Publications of the Research Network

Paper of the quarter

20. February 2024 (GeNeRARe)
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

Am J Respir Crit Care Med. 2024 Feb 20. >>PubMed-Link<<

Jonas Windrich, Peter Braubach, Florian Länger, Jens Dingemann, Nicolaus Schwerk, Martin Wetzke, Diane M Renz, Martin Zenker, Denny Schanze, Christian P Kratz

1. February 2024 (MyPred)
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

Haematologica. 2024 Feb 1. >>PubMed-Link<<

Miriam Erlacher, Felicia Andresen, Martina Sukova, Jan Stary, Barbara De Moerloose, Jutte van der Werff Ten Bosch, Michael Dworzak, Markus G Seidel, Sophia Polychronopoulou, Rita Beier, Christian P Kratz, Michaela Nathrath, Michael C Frühwald, Gudrun Göhring, Anke K Bergmann, Christina Mayerhofer, Dirk Lebrecht, Senthilkumar Ramamoorthy, Ayami Yoshimi, Brigitte Strahm, Marcin W Wlodarski, Charlotte M Niemeyer

17. January 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Cell Rep Med. 2024 Jan 17. >>PubMed-Link<<

Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli et al.

8. November 2023 (GAIN)
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Nature. 2023 Nov. >>PubMed-Link<<

Tom Le Voyer, Audrey V Parent, Xian Liu et al.

Tom Le Voyer, Audrey V Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Jérémie Rosain, Tina Nguyen, Malena Perez Lorenzo, Elze Rackaityte, Darawan Rinchai, Peng Zhang, Lucy Bizien, Gonca Hancioglu, Pascale Ghillani-Dalbin, Jean-Luc Charuel, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman Maglorius Renkilaraj, Masato Ogish, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia M Delmonte, Gabriele Müller, Baerbel Keller, Julio Orrego, William Alexander Franco Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Constance H Katelaris, Peter Mustillo, Johannes Raedler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter; NF-κB Consortium; COVID Human Genetic Effort; Catriona McLean, Aurélien Guffroy, Joseph L DeRisi, David Yu, Corey Miller, Yi Feng, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Marita Bosticardo, Heather Kenney, Riccardo Castagnoli, Charlotte A Slade, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini S Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, Georgios Sogkas, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Melanie Wong, Alisa Kane, Hannah Hu, Cindy Ma, Hana Grombiříková, Peter Ciznar, Ilan Dalal, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphettes, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Makoto Miyara, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa L Bryant, Sophie Trouillet Assant, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim M Roifman, Nils Landegren, Luigi D Notarangelo, Mark S Anderson, Jean-Laurent Casanova, Anne Puel

3. October 2023 (TreatHSP.net)
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

Brain. 2023 Oct 3. >>PubMed-Link<<

Carolina Montoro-Gámez, Hendrik Nolte, Thibaut Molinié, Giovanna Evangelista, Simon E Tröder, Esther Barth, Milica Popovic, Aleksandra Trifunovic, Branko Zevnik, Thomas Langer, Elena I Rugarli

20. March 2024 (TreatHSP.net)
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change

Mov Disord. 2024 Mar 20. >>PubMed-Link<<

Andreas Traschütz, Zofia Fleszar, Holger Hengel, Thomas Klockgether, Friedrich Erdlenbruch, Björn H Falkenburger, Thomas Klopstock, Özgür Öztop-Çakmak, José Luiz Pedroso, Filippo M Santorelli, Ludger Schöls; RFC1 Study Group, PREPARE Consortium; Matthis Synofzik
13. March 2024 (MitoNet)
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

Brain. 2024 Mar 13. >>PubMed-Link<<

Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch
12. March 2024 (CONNECT-GENERATE)
[18F]DPA-714-PET-MRI reveals pronounced innate immunity in human anti-LGI1 and anti-CASPR2 limbic encephalitis

J Neurol. 2024 Mar 12. >>PubMed-Link<<

Wolfgang Roll, Jan Bauer, Andre Dik, Christoph Mueller, Philipp Backhaus, Saskia Räuber, Bastian Zinnhardt, Marco Gallus, Catriona Wimberley, Peter Körtvelyessy, Philipp Schindler, Werner Stenzel, Christian E Elger, Albert Becker, Jan Lewerenz, Heinz Wiendl, Sven G Meuth, Michael Schäfers, Nico Melzer
8. March 2024 (NEOCYST)
Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom [Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]

Klin Padiatr. 2024 Mar 8. >>PubMed-Link<<

Metin Cetiner, Carsten Bergmann, Markus Bettendorf, Johanna Faust, Anja Gäckler, Bernarda Gillissen, Matthias Hansen, Maximilian Kerber, Günter Klaus, Jens König, Laura Kühlewein, Jun Oh, Annette Richter-Unruh, Julia von Schnurbein, Martin Wabitsch, Susann Weihrauch-Blüher, Lars Pape
1. March 2024 (HiChol)
Odevixibat treatment in an adult patient with advanced icteric progressive cholestatic liver disease

JHEP Rep. 2023 Dec 12. eCollection 2024 Mar. >>PubMed-Link<<

Toni Herta, Carola Dröge, Adam Herber, Verena Keitel, Thomas Berg
1. March 2024 (CONNECT-GENERATE)
KCNA2 IgG autoimmunity in neuropsychiatric diseases

Brain Behav Immun. 2024 Mar. >>PubMed-Link<<

Friederike A Arlt, Ramona Miske, Marie-Luise Machule, Peter Broegger Christensen, Swantje Mindorf, Bianca Teegen, Kathrin Borowski, Maria Buthut, Rosa Rößling, Elisa Sánchez-Sendín, Scott van Hoof, César Cordero-Gómez, Isabel Bünger, Helena Radbruch, Andrea Kraft, Ilya Ayzenberg, Jaqueline Klausewitz, Niels Hansen, Charles Timäus, Peter Körtvelyessy, Thomas Postert, Kirsten Baur-Seack, Constanze Rost, Robert Brunkhorst, Kathrin Doppler, Niklas Haigis, Gerhard Hamann, Albrecht Kunze, Alexandra Stützer, Matthias Maschke, Nico Melzer, Felix Rosenow, Kai Siebenbrodt, Christian Stenør, Martin Dichgans, Marios K Georgakis, Rong Fang, Gabor C Petzold, Michael Görtler, Inga Zerr, Silke Wunderlich, Ivan Mihaljevic, Paul Turko, Marianne Schmidt Ettrup, Emilie Buchholz, Helle Foverskov Rasmussen, Mahoor Nasouti, Ivan Talucci, Hans M Maric, Stefan H Heinemann, Matthias Endres; DEMDAS study group; Lars Komorowski, Harald Prüss
1. March 2024 (STOP-FSGS)
Zebrafish as a model for podocyte research

Am J Physiol Renal Physiol. 2024 Mar 1. >>PubMed-Link<<

Maximilian Schindler, Nicole Endlich
1. March 2024 (MyPred)
Somatic variant profiling in chronic phase pediatric chronic myeloid leukemia

Haematologica. 2024 Mar 1. >>PubMed-Link<<

Yvonne Lisa Behrens, Laura Gaschler, Ronny Nienhold, Thea Reinkens, Elke Schirmer, Sabine Knöß, Renate Strasser, Stephanie Sembill, Zofia Wotschofsky, Meinolf Suttorp, Manuela Krumbholz, Brigitte Schlegelberger, Markus Metzler, Gudrun Göhring, Axel Karow
28. February 2024 (STOP-FSGS)
Increased blood pressure after nonsevere COVID-19

J Hypertens. 2023 Nov 1. >>PubMed-Link<<

Christian Schmidt-Lauber, Elisa Alba Schmidt, Sonja Hänzelmann, Elina L Petersen, Christian-Alexander Behrendt, Raphael Twerenbold, Stefan Blankenberg, Tobias B Huber, Ulrich O Wenzel
28. February 2024 (MitoNet)
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

Cell Rep Med. 2024 Feb 28. >>PubMed-Link<<

Patrick Yu-Wai-Man, Valerio Carelli, Nancy J Newman, Magda Joana Silva, Aki Linden, Gregory Van Stavern, Jacek P Szaflik, Rudrani Banik, Wojciech Lubiński, Berthold Pemp, Yaping Joyce Liao, Prem S Subramanian, Marta Misiuk-Hojło, Steven Newman, Lorena Castillo, Jarosław Kocięcki, Marc H Levin, Francisco Jose Muñoz-Negrete, Ali Yagan, Sylvia Cherninkova, David Katz, Audrey Meunier, Marcela Votruba, Magdalena Korwin, Jacek Dziedziak, Neringa Jurkutė, Joshua P Harvey, Chiara La Morgia, Claudia Priglinger, Xavier Llòria, Livia Tomasso, Thomas Klopstock; LEROS Study Group
21. February 2024 (TreatHSP.net)
Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia

Mov Disord. 2024 Feb 21. >>PubMed-Link<<

Laura Krumm, Jürgen Winkler, Beate Winner, Martin Regensburger
21. February 2024 (CMT-net)
Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases

EMBO Mol Med. 2024. >>PubMed-Link<<

Doris Krauter, Daniela Stausberg, Timon J Hartmann, Stefan Volkmann, Theresa Kungl, David A Rasche, Gesine Saher, Robert Fledrich, Ruth M Stassart, Sandra Goebbels, David Ewers , Michael W Sereda
20. February 2024 (GeNeRARe)
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

Am J Respir Crit Care Med. 2024 Feb 20. >>PubMed-Link<<

Jonas Windrich, Peter Braubach, Florian Länger, Jens Dingemann, Nicolaus Schwerk, Martin Wetzke, Diane M Renz, Martin Zenker, Denny Schanze, Christian P Kratz
20. February 2024 (GAIN)
Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity

Sci Signal. 2024 Feb 20. >>PubMed-Link<<

Francis Baumgartner, Stefanos A Bamopoulos, Laura Faletti, Hsiang-Jung Hsiao, Maximilian Holz, Irene Gonzalez-Menendez, Llorenç Solé-Boldo, Arik Horne, Sanket Gosavi, Ceren Özerdem, Nikita Singh, Sven Liebig, Senthilkumar Ramamoorthy, Malte Lehmann, Uta Demel, Anja A Kühl, Tim Wartewig, Jürgen Ruland, Frank T Wunderlich, Markus Schick, Wolfgang Walther, Stefan Rose-John, Simon Haas, Leticia Quintanilla-Martinez, Stefan Feske, Stephan Ehl, Rainer Glauben, Ulrich Keller
20. February 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Cell Rep Med. 2024 Feb 20. >>PubMed-Link<<

Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, Claudio Fiorini, Giada Capirossi, Camille Peron, Alessandra Maresca, Leonardo Caporali, Mariantonietta Capristo, Concetta Valentina Tropeano, Claudia Zanna, Fred N Ross-Cisneros, Alfredo A Sadun, Maria Gemma Pignataro, Carla Giordano, Chiara Fasano, Andrea Cavaliere, Anna Maria Porcelli, Gaia Tioli, Francesco Musiani, Alessia Catania, Costanza Lamperti, Stefania Bianchi Marzoli, Annamaria De Negri, Maria Lucia Cascavilla, Marco Battista, Piero Barboni, Michele Carbonelli, Giulia Amore, Chiara La Morgia, Dmitrii Smirnov, Catalina Vasilescu, Aiman Farzeen, Beryll Blickhaeuser, Holger Prokisch, Claudia Priglinger, Bettina Livonius, Claudia B Catarino, Thomas Klopstock, Valeria Tiranti, Valerio Carelli, Anna Maria Ghelli
16. February 2024 (TreatHSP.net)
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11

Front Neurosci. 2024 Feb 16. >>PubMed-Link<<

Michaela Hörner, Sandy Popp, Julien Branchu, Giovanni Stevanin, Frédéric Darios, Stephan Klebe, Janos Groh, Rudolf Martini
13. February 2024 (TreatHSP.net)
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

Orphanet J Rare Dis. 2024 Feb 13. >>PubMed-Link<<

Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
2. February 2024 (TreatHSP.net)
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

Acta Neuropathol. 2024 Feb 2. >>PubMed-Link<<

Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn Scherpelz, Marie Y Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A Hübner, Markus J Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger
1. February 2024 (STOP-FSGS)
Inhibition of the renal apical sodium dependent bile acid transporter prevents cholemic nephropathy in mice with obstructive cholestasis

J Hepatol. 2024 Feb. >>PubMed-Link<<

Ahmed Ghallab, Daniela González, Ellen Strängberg, Ute Hofmann, Maiju Myllys, Reham Hassan, Zaynab Hobloss, Lisa Brackhagen, Brigitte Begher-Tibbe, Julia C Duda, Carolin Drenda, Franziska Kappenberg, Joerg Reinders, Adrian Friebel, Mihael Vucur, Monika Turajski, Abdel-Latief Seddek, Tahany Abbas, Noha Abdelmageed, Samy A F Morad, Walaa Morad, Amira Hamdy, Wiebke Albrecht, Naim Kittana, Mohyeddin Assali, Nachiket Vartak, Christoph van Thriel, Ansam Sous, Patrick Nell, Maria Villar-Fernandez, Cristina Cadenas, Erhan Genc, Rosemarie Marchan, Tom Luedde, Peter Åkerblad, Jan Mattsson, Hanns-Ulrich Marschall, Stefan Hoehme, Guido Stirnimann, Matthias Schwab, Peter Boor, Kerstin Amann, Jessica Schmitz, Jan H Bräsen, Jörg Rahnenführer, Karolina Edlund, Saul J Karpen, Benedikt Simbrunner, Thomas Reiberger, Mattias Mandorfer, Michael Trauner, Paul A Dawson, Erik Lindström, Jan G Hengstler
1. February 2024 (MyPred)
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

Haematologica. 2024 Feb 1. >>PubMed-Link<<

Miriam Erlacher, Felicia Andresen, Martina Sukova, Jan Stary, Barbara De Moerloose, Jutte van der Werff Ten Bosch, Michael Dworzak, Markus G Seidel, Sophia Polychronopoulou, Rita Beier, Christian P Kratz, Michaela Nathrath, Michael C Frühwald, Gudrun Göhring, Anke K Bergmann, Christina Mayerhofer, Dirk Lebrecht, Senthilkumar Ramamoorthy, Ayami Yoshimi, Brigitte Strahm, Marcin W Wlodarski, Charlotte M Niemeyer
1. February 2024 (MyPred)
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup

Br J Haematol. 2024 Feb. >>PubMed-Link<<

Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flothozik
27. January 2024 (STOP-FSGS)
The podocytes’ inflammatory responses in experimental GN are independent of canonical MYD88-dependent toll-like receptor signaling

Sci Rep. 2024 Jan 27. >>PubMed-Link<<

Thomas Schömig, Paul Diefenhardt, Ingo Plagmann, Bastian Trinsch, Tim Merz, Giuliano Crispatzu, David Unnersjö-Jess, Jasper Nies, David Pütz, Claudio Sierra Gonzalez, Bernhard Schermer, Thomas Benzing, Paul Thomas Brinkkoetter, Sebastian Brähler
17. January 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Cell Rep Med. 2024 Jan 17. >>PubMed-Link<<

Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli et al.
11. January 2024 (GAIN)
Disrupted degradative sorting of TLR7 is associated with human lupus

Sci Immunol. 2024 Jan 11. >>PubMed-Link<<

Harshita Mishra, Claire Schlack-Leigers, Ee Lyn Lim, Oliver Thieck, Thomas Magg, Johannes Raedler, Christine Wolf, Christoph Klein, Helge Ewers, Min Ae Lee-Kirsch, David Meierhofer, Fabian Hauck, Olivia Majer
11. January 2024 (GAIN)
UNC93B1 variants underlie TLR7-dependent autoimmunity

Sci Immunol. 2024 Jan 11. >>PubMed-Link<<

Christine Wolf, Ee Lyn Lim, Mohammad Mokhtari, Barbara Kind, Alexandru Odainic, Eusebia Lara-Villacanas, Sarah Koss, Simon Mages, Katharina Menzel, Kerstin Engel, Gregor Dückers, Benedikt Bernbeck, Dominik T Schneider, Kathrin Siepermann, Tim Niehues, Carl Christoph Goetzke, Pawel Durek, Kirsten Minden, Thomas Dörner, Anna Stittrich, Franziska Szelinski, Gabriela Maria Guerra, Mona Massoud, Markus Bieringer, Carina C de Oliveira Mann, Eduardo Beltrán, Tilmann Kallinich, Mir-Farzin Mashreghi, Susanne V Schmidt, Eicke Latz, Johanna Klughammer, Olivia Majer, Min Ae Lee-Kirsch
1. January 2024 (GAIN)
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

J Allergy Clin Immunol. 2024 Jan. >>PubMed-Link<<

Kathleen Baysac, Guangping Sun, Hiroto Nakano, Elizabeth G Schmitz, Anthony C Cruz, Charles Fisher, Alexis C Bailey; PLCG2-Immune Dysregulation Working Group; Emily Mace, Joshua D Milner, Michael J Ombrello
1. January 2024 (TreatHSP.net)
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

EBioMedicine. 2024 Jan. >>PubMed-Link<<

Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
1. January 2024 (GAIN)
Hypogammaglobulinemia and immune dysregulation-not just 2 sides of a coin

J Allergy Clin Immunol. 2024 Jan. >>PubMed-Link<<

Gulbu Uzel, Baerbel Keller, Klaus Warnatz
20. December 2023 (TreatHSP.net)
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

Genes (Basel). 2023 Dec 20. >>PubMed-Link<<

Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger
19. December 2023 (STOP-FSGS)
In vivo characterization of a podocyte-expressed short podocin isoform

BMC Nephrol. 2023 Dec 19. >>PubMed-Link<<

Linus Butt, David Unnersjö-Jess, Dervla Reilly, Robert Hahnfeldt, Markus M Rinschen, Katarzyna Bozek, Bernhard Schermer, Thomas Benzing, Martin Höhne
13. December 2023 (STOP-FSGS)
Research on Rare Diseases in Germany – Using small fish and super-resolution microscopy to track down a rare disease

J Health Monit. 2023 Dec 13. >>PubMed-Link<<

Deutsche Fassung: Forschung zu Seltenen Erkrankungen in Deutschland – Mit kleinen Fischen und Superresolution-Mikroskopie auf den Spuren einer seltenen Erkrankung

Nicole Endlich
13. December 2023 (GAIN)
Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases

J Health Monit. 2023 Dec 13. >>PubMed-Link<<

Deutsche Fassung: Forschung zu Seltenen Erkrankungen in Deutschland – Das GAIN-Register: Ein Register für Personen mit angeborenen Multi-Organ-Autoimmunerkrankungen

Cynthia Stapornwongkul, Alexandra Nieters, Paulina Staus, Stephan Rusch, Anita Delor, Ulrich Baumann, Julius Wehrle, Melanie Boerries, Markus G Seidel, Bodo Grimbacher, Gerhard Kindle
13. December 2023 (ADDRess)
Research on Rare Diseases in Germany – The cancer predisposition syndrome registry

J Health Monit. 2023 Dec 13. >>PubMed-Link<<

Deutsche Fassung: Forschung zu Seltenen Erkrankungen in Deutschland – Das Krebsprädispositionssyndrom-Register

Christina M Dutzmann, Nathalie E Palmaers, Lucas J Müntnich, Farina J Strüwe, Judith Penkert, Birte Sänger, Beatrice Hoffmann, Anja Karow, Christina Reimer, Tanja Gerasimov, Marena R Niewisch, Christian P Kratz
7. December 2023 (GAIN)
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD

RMD Open. 2023 Dec 7. >>PubMed-Link<<

Faranaz Atschekzei, Mykola Fedchenko, Abdulwahab Elsayed, Natalia Dubrowinskaja, Theresa Graalmann, Felix C Ringshausen, Torsten Witte, Georgios Sogkas
1. December 2023 (Treat-ION)
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Brain. 2023 Dec 1. >>PubMed-Link<<

Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke 5, Jacob Tiller, Amber N Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal
1. December 2023 (STOP-FSGS)
A Novel High-Content Screening Assay Identified Belinostat as Protective in a FSGS-Like Zebrafish Model

J Am Soc Nephrol. 2023 Dec 1. >>PubMed-Link<<

Maximilian Schindler, Florian Siegerist, Tim Lange, Stefan Simm, Sophia-Marie Bach, Marianne Klawitter, Jochen Gehrig, Sheraz Gul, Nicole Endlich
Details
28. November 2023 (STOP-FSGS)
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

Sci Rep. 2023 Nov 283. >>PubMed-Link<<

Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino-Garví, Maximilian Schindler, Hans Jacobus Baelde, Sara Cairoli, Bianca Maria Goffredo, Fanny Oliveira Arcolino, Jürgen Dieker, Manoe Jacoba Janssen, Nicole Endlich, Roland Brock, Rik Gijsbers, Lambertus van den Heuvel, Elena Levtchenko
26. November 2023 (MyPred)
Development of MDS in Pediatric Patients with GATA2 Deficiency: Increased Histone Trimethylation and Deregulated Apoptosis as Potential Drivers of Transformation

Cancers (Basel). 2023 Nov 26. >>PubMed-Link<<

Franziska Schreiber, Guido Piontek, Yuki Schneider-Kimoto, Stephan Schwarz-Furlan, Rita De Vito, Franco Locatelli, Carole Gengler, Ayami Yoshimi, Andreas Jung, Frederick Klauschen, Charlotte M Niemeyer, Miriam Erlacher, Martina Rudelius
14. November 2023 (MitoNet)
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

Mov Disord. 2023 Nov 14. >>PubMed-Link<<

Elisabetta Indelicato, Sylvia Boesch, Niccolo’ E Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zech
8. November 2023 (GAIN)
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Nature. 2023 Nov. >>PubMed-Link<<

Tom Le Voyer, Audrey V Parent, Xian Liu et al.
8. November 2023 (GAIN)
Telomere biology disorders may manifest as common variable immunodeficiency (CVID)

Clin Immunol. 2023 Nov 8. >>PubMed-Link<<

Benjamin Rolles, Andres Caballero-Oteyza, Michele Proietti, Sigune Goldacker, Klaus Warnatz, Nadezhda Camacho-Ordonez, Seraina Prader, Jana Pachlopnik Schmid, Margherita Vieri, Susanne Isfort, Robert Meyer, Martin Kirschner, Tim H Brümmendorf, Fabian Beier, Bodo Grimbacher
7. November 2023 (ADDRess)
Medical students’ knowledge on cancer predisposition syndromes and attitude toward eHealth

Arch Gynecol Obstet. 2023 Nov 7. >>PubMed-Link<<

Juliane Nees, Farina Struewe, Sarah Schott
5. November 2023 (GAIN)
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

J Allergy Clin Immunol. 2024 Jan. Epub 2023 Nov 5. >>PubMed-Link<<

Marco Fischer, Peter Olbrich, Jérôme Hadjadj, Volker Aumann, Shahrzad Bakhtiar, Vincent Barlogis, Philipp von Bismarck, Markéta Bloomfield, Claire Booth, Emmeline P Buddingh, Deniz Cagdas, Martin Castelle, Alice Y Chan, Shanmuganathan Chandrakasan, Kritika Chetty, Pierre Cougoul, Etienne Crickx, Jasmeen Dara, Angela Deyà-Martínez, Susan Farmand, Renata Formankova, Andrew R Gennery, Luis Ignacio Gonzalez-Granado, David Hagin, Leif Gunnar Hanitsch, Jana Hanzlikovà, Fabian Hauck, José Ivorra-Cortés, Kai Kisand, Ayca Kiykim, Julia Körholz, Timothy Ronan Leahy, Joris van Montfrans, Zohreh Nademi, Brigitte Nelken, Suhag Parikh, Silvi Plado, Jan Ramakers, Antje Redlich, Frédéric Rieux-Laucat, Jacques G Rivière, Yulia Rodina, Pérsio Roxo Júnior, Sarah Salou, Catharina Schuetz, Anna Shcherbina, Mary A Slatter, Fabien Touzot, Ekrem Unal, Arjan C Lankester, Siobhan Burns, Mikko R J Seppänen, Olaf Neth, Michael H Albert, Stephan Ehl, Bénédicte Neven, Carsten Speckmann
1. November 2023 (STOP-FSGS)
Introduction of a novel chimeric active immunization mouse model of PLA2R1-associated membranous nephropathy

Kidney Int. 2023 Nov. >>PubMed-Link<<

Nicola M Tomas, Annabel Schnarre, Silke Dehde, Renke Lucas, Irm Hermans-Borgmeyer, Oliver Kretz, Sarah M S Koellner, Thorsten Wiech, Friedrich Koch-Nolte, Larissa Seifert, Tobias B Huber, Gunther Zahner
1. November 2023 (STOP-FSGS)
JNKs protect from cholestatic liver disease progression by modulating Apelin signalling

JHEP Rep. 2023 Jul 18. eCollection 2023 Nov. >>PubMed-Link<<

Mohamed Ramadan Mohamed, Johannes Haybaeck, Hanghang Wu, Huan Su, Matthias Bartneck, Cheng Lin, Mark V Boekschoten, Peter Boor, Benjamin Goeppert, Christian Rupp, Pavel Strnad, Roger J Davis, Francisco Javier Cubero, Christian Trautwein
1. November 2023 (GAIN)
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)

Clin Immunol. 2023 Nov. >>PubMed-Link<<

Xiao P Peng, Moudjahed Saleh Al-Ddafari, Andres Caballero-Oteyza, Chahrazed El Mezouar, Pavla Mrovecova, Saad Eddin Dib, Zoheir Massen, Mohammed Chems-Eddine Smahi, Alddafari Faiza, Rafik Terki Hassaïne, Gérard Lefranc, Mourad Aribi, Bodo Grimbacher
31. October 2023 (TreatHSP.net)
The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells

RNA. 2022 Oct 31. >>PubMed-Link<<

Maike Nagel, Marvin Noss, Jishu Xu, Nicola Horn, Marius Ueffing, Karsten Boldt, Rebecca Schüle
31. October 2023 (CONNECT-GENERATE)
Human NMDAR autoantibodies disrupt excitatory-inhibitory balance, leading to hippocampal network hypersynchrony

Cell Rep. 2023 Oct 31. >>PubMed-Link<<

Mihai Ceanga, Vahid Rahmati, Holger Haselmann, Lars Schmidl, Daniel Hunter, Anna-Katherina Brauer, Sabine Liebscher, Jakob Kreye, Harald Prüss, Laurent Groc, Stefan Hallermann, Josep Dalmau, Alessandro Ori, Manfred Heckmann, Christian Geis
Details
24. October 2023 (MyPred)
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

Blood Adv. 2023 Oct 24. >>PubMed-Link<<

Claire C Homan, Michael W Drazer, Kai Yu, David M Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew J Pozsgai, Kelsey E McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L King-Smith, Jesse Cheah, Mark Armstrong, Paul Wang, Csaba Bödör, Alan B Cantor, Mario Cazzola, Erin Degelman, Courtney D DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P Hsu, Steven M Holland, Kerry Phillips, Nicola K Poplawski, Milena Babic, Andrew H Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul Liu, Lucy A Godley, Anna L Brown; NISC Comparative Sequencing Program
24. October 2023 (CONNECT-GENERATE)
Impaired functional connectivity of the hippocampus in translational murine models of NMDA-receptor antibody associated neuropsychiatric pathology

Mol Psychiatry. 2023 Oct 24. >>PubMed-Link<<

Joseph Kuchling, Betty Jurek, Mariya Kents, Jakob Kreye, Christian Geis, Jonathan Wickel, Susanne Mueller, Stefan Paul Koch, Philipp Boehm-Sturm, Harald Prüss, Carsten Finker
17. October 2023 (NEOCYST)
A novel role for the chloride intracellular channel protein Clic5 in ciliary function

Sci Rep. 2023 Oct 17. >>PubMed-Link<<

Elisabeth Ott, Sylvia Hoff, Lara Indorf, Franck Anicet Ditengou, Julius Müller, Gina Renschler, Soeren S Lienkamp, Albrecht Kramer-Zucker, Carsten Bergmann, Daniel Epting
16. October 2023 (STOP-FSGS)
Banff Digital Pathology Working Group: Image Bank, Artificial Intelligence Algorithm, and Challenge Trial Developments

Transpl Int. 2023 Oct 16. >>PubMed-Link<<

Alton B Farris, Mariam P Alexander, Ulysses G J Balis, Laura Barisoni, Peter Boor, Roman D Bülow, Lynn D Cornell, Anthony J Demetris, Evan Farkash, Meyke Hermsen, Julien Hogan, Renate Kain, Jesper Kers, Jun Kong, Richard M Levenson, Alexandre Loupy, Maarten Naesens, Pinaki Sarder, John E Tomaszewski, Jeroen van der Laak, Dominique van Midden, Yukako Yagi, Kim Solez
12. October 2023 (GeNeRARe)
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication

Am J Med Genet A. 2023 Oct 12. >>PubMed-Link<<

Daniel L Kenney-Jung, Josue E Collazo-Lopez, Dante J Rogers, Ryan Shanley, Abigail L Zatkalik, Ashley E Whitmarsh, Amy E Roberts, Martin Zenker, Elizabeth I Pierpont
11. October 2023 (Treat-ION)
Voltage-gated calcium channels in genetic epilepsies

J Neurochem. 2023 Oct 11. >>PubMed-Link<<

Robert J Lauerer, Holger Lerche
9. October 2023 (HiChol)
Insulin determines TGF-β effects on HNF4α transcription in hepatocytes

Am J Pathol. 2023 Oct 9. >>PubMed-Link<<

Rilu Feng, Chenhao Tong, Tao Lin 1, Hui Liu, Chen Shao, Yujia Li, Carsten Sticht, Kejia Kan, Xiaofeng Li, Rui Liu, Sai Wang, Shanshan Wang, Stefan Munker, Hanno Niess, Christoph Meyer, Roman Liebe, Matthias P Ebert, Steven Dooley, Hua Wang, Huiguo Ding, Hong-Lei Weng
3. October 2023 (TreatHSP.net)
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

Brain. 2023 Oct 3. >>PubMed-Link<<

Carolina Montoro-Gámez, Hendrik Nolte, Thibaut Molinié, Giovanna Evangelista, Simon E Tröder, Esther Barth, Milica Popovic, Aleksandra Trifunovic, Branko Zevnik, Thomas Langer, Elena I Rugarli
3. October 2023 (GAIN)
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards

Nat Rev Gastroenterol Hepatol. 2023 Oct 3. >>PubMed-Link<<

Holm H Uhlig, Claire Booth, Judy Cho, Marla Dubinsky, Anne M Griffiths, Bodo Grimbacher, Sophie Hambleton, Ying Huang, Kelsey Jones, Jochen Kammermeier, Hirokazu Kanegane, Sibylle Koletzko, Daniel Kotlarz, Christoph Klein, Michael J Lenardo, Bernice Lo, Dermot P B McGovern, Ahmet Özen, Lissy de Ridder, Frank Ruemmele, Dror S Shouval, Scott B Snapper, Simon P Travis, Dan Turner, David C Wilson , Aleixo M Muise
3. October 2023 (CONNECT-GENERATE)
Post-herpes simplex virus encephalitis autoimmunity: more the rule than the exception

Brain. 2023 Oct 3. >>PubMed-Link<<
(Scientific Commentary)

Frank Leypoldt, Klaus-Peter Wandinger
1. October 2023 (GAIN)
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

J Allergy Clin Immunol. 2023 Oct. >>PubMed-Link<<

Maria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, Tiziana Lorenzini Jennifer W Leiding, Nathalie Aladjdi, Hassan Abolhassani, Wadih Abou-Chahla, Alessandro Aiuti, Saba Azarnoush, Safa Baris, Vincent Barlogis, Federica Barzaghi, Ulrich Baumann, Marketa Bloomfield, Nadezda Bohynikova, Damien Bodet, David Boutboul, Giorgia Bucciol, Matthew S Buckland, Siobhan O Burns, Caterina Cancrini, Pascal Cathébras, Marina Cavazzana, Morgane Cheminant, Matteo Chinello, Peter Cizna, Tanya I Coulter, Maud D’Aveni, Olov Ekwall, Zelimir Eric, Efrem Eren, Anders Fasth, Pierre Frange, Benjamin Fournier, Marina Garcia-Prat, Martine Gardembas, Christoph Geier, Sujal Ghosh, Vera Goda, Lennart Hammarström, Fabian Hauck, Maximilian Heeg, Edyta Heropolitanska-Pliszka, Anna Hilfanova, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard R Kindle, Ayca Kiykim, Christian Klemann, Patra Koletsi, Sylwia Koltan, Irina Kondratenko, Julia Körholz, Renate Krüger, Eric Jeziorski, Romain Levy, Guillaume Le Guenno, Guillaume Lefevre, Vassilios Lougaris, Antonio Marzollo, Nizar Mahlaoui, Marion Malphettes, Andrea Meinhardt, Etienne Merlin, Isabelle Meyts, Tomas Milota, Fernando Moreira, Despina Moshous, Anna Mukhina, Olaf Neth, Jennifer Neubert, Benedicte Neven, Alexandra Nieters, Raphaele Nove-Josserand, Eric Oksenhendler, Ahmet Ozen, Peter Olbrich, Antoinette Perlat, Malgorzata Pac, Jana Pachlopnik Schmid, Lucia Pacillo, Alba Parra-Martinez, Olga Paschenko, Isabelle Pellier, Asena Pinar Sefer, Alessandro Plebani, Dominique Plantaz, Seraina Prader, Loic Raffray, Henrike Ritterbusch, Jacques G Riviere, Beatrice Rivalta, Stephan Rusch, Inga Sakovich, Sinisa Savic, Raphael Scheible, Nicolas Schleinitz, Catharina Schuetz, Ansgar Schulz, Anna Sediva, Michaela Semeraro, Svetlana O Sharapova, Anna Shcherbina, Mary A Slatter, Georgios Sogkas, Pere Soler-Palacin, Carsten Speckmann, Jean-Louis Stephan, Felipe Suarez, Alberto Tommasini, Johannes Trück, Annette Uhlmann, Koen J van Aerde, Joris van Montfrans, Horst von Bernuth, Klaus Warnatz, Tony Williams, Austen J J Worth, Winnie Ip, Capucine Picard, Emilie Catherinot, Zohreh Nademi, Bodo Grimbacher, Lisa R Forbes Satter, Sven Kracker, Anita Chandra, Alison M Condliffe, Stephan Ehl; European Society for Immunodeficiencies Registry Working Party
1. October 2023 (MyPred)
Down syndrome and leukemia: from basic mechanisms to clinical advances

Haematologica. 2023 Oct 1. >>PubMed-Link<<

André Baruchel, Jean-Pierre Bourquin, John Crispino, Sergi Cuartero, Henrik Hasle, Johann Hitzler, Jan-Henning Klusmann, Shai Izraeli, Andrew A Lane, Sébastien Malinge, Karen R Rabin, Irene Roberts, Sandra Ryeom, Sarah K Tasian, Elvin Wagenblast
1. October 2023 (STOP-FSGS)
Kidney fibrosis: Emerging diagnostic and therapeutic strategies

Mol Aspects Med. 2023 Oct. >>PubMed-Link<<

Barbara Mara Klinkhammer, Peter Boor
25. September 2023 (NEOCYST)
Emerging principles of primary cilia dynamics in controlling tissue organization and function

EMBO J. 2023 Sep 25. >>PubMed-Link<<

Jay Gopalakrishnan, Kerstin Feistel, Benjamin M Friedrich, Anne Grapin-Botton, Nathalie Jurisch-Yaksi, Elvira Mass, David U Mick, Roman-Ulrich Müller, Helen May-Simera, Bernhard Schermer, Miriam Schmidts, Peter Walentek, Dagmar Wachten
23. September 2023 (GAIN)
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry

J Clin Immunol. 2023 Sep 23. >>PubMed-Link<<

Jessica Rojas-Restrepo, Elena Sindram, Simon Zenke, Hanna Haberstroh, Noriko Mitsuiki, Annemarie Gabrysch, Katrin Huebscher, Sara Posadas-Cantera, Máté Krausz, Robin Kobbe, Jan C Rohr, Bodo Grimbacher, Laura Gámez-Díaz
Details
22. September 2023 (MyPred)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

Clin Immunol. 2023 Sep 22. >>PubMed-Link<<

Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Raphaël Carapito, Mario Schubert, Nadja Lucas, Solène Conrad, Sylvaine Poignant, Bertrand Isidor, Meino Rohlfs, Ayşenur Paç Kisaarslan, Denny Schanze, Martin Zenker, Annette Schmitt-Graeff, Brigitte Strahm, Anke Peters, Ayami Yoshimi, Wolfgang Driever, Thomas Zillinger, Claudia Günther, Shovamayee Maharana, Kaomei Guan, Christoph Klein, Stephan Ehl, Charlotte M Niemeyer, Ekrem Unal, Seiamak Bahram, Fabian Hauck, Min Ae Lee-Kirsch, Carsten Speckmann
22. September 2023 (GAIN)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

Clin Immunol. 2023 Sep 22. >>PubMed-Link<<

Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Raphaël Carapito, Mario Schubert, Nadja Lucas, Solène Conrad, Sylvaine Poignant, Bertrand Isidor, Meino Rohlfs, Ayşenur Paç Kisaarslan, Denny Schanze, Martin Zenker, Annette Schmitt-Graeff, Brigitte Strahm, Anke Peters, Ayami Yoshimi, Wolfgang Driever, Thomas Zillinger, Claudia Günther, Shovamayee Maharana, Kaomei Guan, Christoph Klein, Stephan Ehl, Charlotte M Niemeyer, Ekrem Unal, Seiamak Bahram, Fabian Hauck, Min Ae Lee-Kirsch, Carsten Speckmann
21. September 2023 (GAIN)
Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood

Front Immunol. 2023 Sep 21. >>PubMed-Link<<

Claudia Günther, Christine Wolf, Louisa Fennen, Sarah Rösing, Stefan Beissert, Martin Aringer, Min Ae Lee-Kirsch
20. September 2023 (STOP-FSGS)
DISCERN: deep single-cell expression reconstruction for improved cell clustering and cell subtype and state detection

Genome Biol. 2023 Sep 20. >>PubMed-Link<<

Fabian Hausmann, Can Ergen, Robin Khatri, Mohamed Marouf, Sonja Hänzelmann, Nicola Gagliani, Samuel Huber, Pierre Machart, Stefan Bonn
7. September 2023 (GeNeRARe)
Atrial fibrillation-associated electrical remodelling in human induced pluripotent stem cell-derived atrial cardiomyocytes: a novel pathway for antiarrhythmic therapy development

Cardiovasc Res. 2023 Sep 7. >>PubMed-Link<<

Fitzwilliam Seibertz, Tony Rubio, Robin Springer, Fiona Popp, Melanie Ritter, Aiste Liutkute, Lena Bartelt, Lea Stelzer, Fereshteh Haghighi, Jan Pietras, Hendrik Windel, Núria Díaz I Pedrosa, Markus Rapedius, Yannic Döring, Richard Solano, Robin Hindmarsh, Runzhu Shi, Malte Tiburcy, Tobias Brügmann, Ingo Kutschka, Katrin Streckfuss-Bömeke, George Kensah, Lukas Cyganek, Wolfram H Zimmermann, Niels Voigt
1. September 2023 (MyPred)
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

Haematologica. 2023 Sep 1. >>PubMed-Link<<

Oskar Marin-Bejar, Damia Romero-Moya, Javier Rodriguez-Ubreva, Maximiliano Distefano, Francesca Lessi, Paolo Aretini, Alessandro Liquori, Julio Castaño, Emilia Kozyra, Lili Kotmayer, Clara Bueno, José Cervera, José Carlos Rodriguez-Gallego, Josep F Nomdedeu, Laura Murillo-Sanjuán, Cristina Díaz De Heredia, Antonio Pérez-Martinez, Félix López-Cadenas, Carolina Martínez-Laperche, Nieves Dorado-Herrero, Francisco M Marco, Felipe Prósper, Pablo Menendez, David Valcárcel, Esteban Ballestar, Csaba Bödör, Anna Bigas, Albert Catalá, Marcin W Wlodarski, Alessandra Giorgetti
1. September 2023 (NEOCYST)
Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management

Adv Kidney Dis Health. 2023 Sep. >>PubMed-Link<<

Kathrin Burgmaier, Ilse J Broekaert, Max C Liebau
29. August 2023 (CONNECT-GENERATE)
Synapsin autoantibodies during pregnancy are associated with fetal abnormalities

Am J Pathol. 2023 Oct 9. >>PubMed-Link<<

Isabel Bünger, Ivan Talucci 3, Jakob Kreye, Markus Höltje, Konstantin L Makridis, Helle Foverskov Rasmussen, Scott van Hoof, César Cordero-Gomez, Tim Ullrich, Eva Sedlin, Kai Oliver Kreissner, Christian Hoffmann, Dragomir Milovanovic, Paul Turko, Friedemann Paul, Jessica Meckies, Stefan Verlohren, Wolfgang Henrich, Rabih Chaoui, Hans Michael Maric, Angela M Kaindl, Harald Prüss
29. August 2023 (TreatHSP.net)
Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning

Orphanet J Rare Dis. 2023 Aug 29. >>PubMed-Link<<

Malte Ollenschläger, Patrick Höfner, Martin Ullrich, Felix Kluge, Teresa Greinwalder, Evelyn Loris, Martin Regensburger, Bjoern M Eskofier, Jürgen Winkler, Heiko Gaßner
14. August 2023 (STOP-FSGS)
An integrated organoid omics map extends modeling potential of kidney disease

Nat Commun. 2023 Aug 14. >>PubMed-Link<<

Moritz Lassé, Jamal El Saghir, Celine C Berthier, Sean Eddy, Matthew Fischer, Sandra D Laufer, Dominik Kylies, Arvid Hutzfeldt, Léna Lydie Bonin, Bernhard Dumoulin, Rajasree Menon, Virginia Vega-Warner, Felix Eichinger, Fadhl Alakwaa, Damian Fermin, Anja M Billing, Akihiro Minakawa, Phillip J McCown, Michael P Rose, Bradley Godfrey, Elisabeth Meister, Thorsten Wiech, Mercedes Noriega, Maria Chrysopoulou, Paul Brandts, Wenjun Ju, Linda Reinhard, Elion Hoxha, Florian Grahammer, Maja T Lindenmeyer, Tobias B Huber, Hartmut Schlüter, Steffen Thiel, Laura H Mariani, Victor G Puelles, Fabian Braun, Matthias Kretzler, Fatih Demir, Jennifer L Harder, Markus M Rinschen
7. August 2023 (STOP-FSGS)
Extending the landscape of omics technologies by pathomics

NPJ Syst Biol Appl. 2023. >>PubMed-Link<<

Roman D. Bülow, David L. Hölscher, Ivan G. Costa, Peter Boor
5. August 2023 (GAIN)
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9

J Allergy Clin Immunol. 2023 Aug 5. >>PubMed-Link<<

Christine Wolf, Hannah Fischer, Jörn-Sven Kühl, Sarah Koss, Rami Abou Jamra, Sven Starke, Jurek Schultz, Stephan Ehl, Katrin Neumann, Catharina Schuetz, Robert Huber, Veit Hornung, Min Ae Lee-Kirsch
1. August 2023 (GAIN)
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency

J Allergy Clin Immunol. 2023 Aug. >>PubMed-Link<<

Annaïse J Jauch, Olivier Bignucolo, Sayuri Seki, Marie Ghraichy, Ottavia M Delmonte, Valentin von Niederhäusern, Rebecca Higgins, Adhideb Ghosh, Masako Nishizawa, Mariko Tanaka, Adrian Baldrich, Julius Köppen, Julia R Hirsiger, Robin Hupfer, Stephan Ehl, Anne Rensing-Ehl, Helmut Hopfer, Spasenija Savic Prince, Stephen R Daley, Florian A Marquardsen, Benedikt J Meyer, Michael Tamm, Thomas D Daikeler, Tamara Diesch, Thomas Kühne, Arthur Helbling, Caroline Berkemeier, Ingmar Heijnen, Alexander A Navarini, Johannes Trück, Jean-Pierre de Villartay, Annette Oxenius, Christoph T Berger, Christoph Hess, Luigi D Notarangelo, Hiroyuki Yamamoto, Mike Recher
1. August 2023 (STOP-FSGS)
2,8-Dihydroxyadenine-induced nephropathy causes hexosylceramide accumulation with increased mTOR signaling, reduced levels of protective SirT3 expression and impaired renal mitochondrial function

Biochim Biophys Acta Mol Basis Dis. 2023 Aug 1. >>PubMed-Link<<

Julia Moellmann, Katja Krueger, Dickson W L Wong, Barbara M Klinkhammer, Eva M Buhl, Jonas Dehairs, Johan V Swinnen, Heidi Noels, Joachim Jankowski, Corinna Lebherz, Peter Boor, Nikolaus Marx, Michael Lehrke
1. August 2023 (ADDRess)
MRD as Biomarker for Response to Donor Lymphocyte Infusion after Allogeneic Hematopoietic Cell Transplantation in Patients with AML

Cancers (Basel). 2023 Aug 1 >>PubMed-Link<<

Katrin Teich, Michael Stadler, Razif Gabdoulline, Jyoti Kandarp, Clara Wienecke, Bennet Heida, Piroska Klement, Konstantin Büttner, Letizia Venturini, Martin Wichmann, Wolfram Puppe, Christian Schultze-Florey, Christian Koenecke, Gernot Beutel, Matthias Eder, Arnold Ganser, Michael Heuser, Felicitas Thol
1. August 2023 (GAIN)
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing

Genes Immun. 2023 Aug. >>PubMed-Link<<

Zahra Alizadeh, Mohammad Reza Fazlollahi, Marzieh Mazinani, Mohsen Badalzadeh, Hanieh Heydarlou, Raphael Carapito, Anne Molitor, Andrés Caballero Garcia de Oteyza, Michele Proietti, Maryam Soleimani Bavani, Mansoureh Shariat, Morteza Fallahpour, Masoud Movahedi, Leila Moradi, Bodo Grimbacher, Seiamak Bahram, Zahra Pourpak
23. July 2023 (MitoNet)
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

Mov Disord. 2023 Jul 23. >>PubMed-Link<<

Philip Harrer, Matej Škorvánek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriam Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore R Kumar, Niccolo E Mencacci, Manju A Kurian, Alessio Di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech
19. July 2023 (Treat-ION)
Apo state pore opening as functional basis of increased EAAT anion channel activity in episodic ataxia 6

Front Physiol. 2023 Jul 19. >>PubMed-Link<<
Mariia Suslova, Daniel Kortzak, Jan-Philipp Machtens, Peter Kovermann, Christoph Fahlke
13. July 2023 (CONNECT-GENERATE)
No evidence of neuronal/glial autoantibodies in febrile infection-related epilepsy syndrome (FIRES): a prospective clinic-serologic analysis

Front Neurosci. 2023 Jul 13. >>PubMed-Link<<

Janina Soler Wenglein, Gerhard Kluger, Frank Leypoldt, Klaus-Peter Wandinger, Andreas van Baalen
6. July 2023 (STOP-FSGS)
A YAP/TAZ-ARHGAP29-RhoA Signaling Axis Regulates Podocyte Protrusions and Integrin Adhesions

Cells. 2023 Jul 6. >>PubMed-Link<<

Manuel Rogg, Jasmin I Maier, Martin Helmstädter, Alena Sammarco, Felix Kliewe, Oliver Kretz, Lisa Weißer, Clara Van Wymersch, Karla Findeisen, Anna L Koessinger, Olga Tsoy, Jan Baumbach, Markus Grabbert, Martin W
5. July 2023 (CONNECT-GENERATE)
High frequency of cerebrospinal fluid autoantibodies in patients with seizures or epilepsies of unknown etiology

Front Neurol. 2023 Jul 5. >>PubMed-Link<<

Paulina Schulz, Alva Lütt, Winfried Stöcker, Bianca Teegen, Martin Holtkamp, Harald Prüss
4. July 2023 (GeNeRARe)
The Microenvironment of the Pathogenesis of Cardiac Hypertrophy

Cells. 2023 Jul 4. >>PubMed-Link<<

Farhad Bazgir, Julia Nau, Saeideh Nakhaei-Rad, Ehsan Amin, Matthew J. Wolf, Jeffry J. Saucerman, Kristina Lorenz, Mohammad Reza Ahmadian
4. July 2023 (GeNeRARe)
ACE2-EGFR-MAPK signaling contributes to SARS-CoV-2 infection

Life Sci. Alliance. 2023 Jul 4. >>PubMed-Link<<

Melanie Engler, Dan Albers, Pascal Von Maltitz, Rüdiger Groß, Jan Münch, Ion Cristian Cirstea
1. July 2023 (STOP-FSGS)
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Genet Med. 2023 Jul. >>PubMed-Link<<

Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu , Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L Wang, Wolfram Antonin, Ron D Jachimowicz, Verena von Felbert, Felix Distelmaier
1. July 2023 (GAIN)
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility

J Clin Immunol. 2023 Jul. >>PubMed-Link<<

Yoong Wearn Lim, Neftali Jose Ramirez, Michael A Asensio, Yao Chiang, Gabriele Müller, Pavla Mrovecova, Noriko Mitsuiki, Máté Krausz, Nadezhda Camacho-Ordonez, Klaus Warnatz, Adam S Adler, Bodo Grimbacher
1. July 2023 (ADDRess)
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Genet Med. 2023 Jul. >>PubMed-Link<<

Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu , Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L Wang, Wolfram Antonin, Ron D Jachimowicz, Verena von Felbert, Felix Distelmaier
27. June 2023 (GAIN)
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade

Nat Commun. 2023 Jun 27. >>PubMed-Link<<

Juan Carlos Yam-Puc, Zhaleh Hosseini, Emily C Horner, Pehuén Pereyra Gerber, Nonantzin Beristain-Covarrubias, Robert Hughes, Aleksei Lulla, Maria Rust, Rebecca Boston, Magda Ali, Katrin Fischer, Edward Simmons-Rosello, Martin O’Reilly, Harry Robson, Lucy H Booth, Lakmini Kahanawita, Andrea Correa-Noguera, David Favara, Lourdes Ceron-Gutierrez, Baerbel Keller, Andrew Craxton, Georgina S F Anderson, Xiao-Ming Sun, Anne Elmer, Caroline Saunders, Areti Bermperi, Sherly Jose, Nathalie Kingston, Thomas E Mulroney, Lucia P G Piñon; CITIID-NIHR COVID−19 BioResource Collaboration; Michael A Chapman, Sofia Grigoriadou, Marion MacFarlane, Anne E Willis, Kiran R Patil, Sarah Spencer, Emily Staples, Klaus Warnatz, Matthew S Buckland, Florian Hollfelder, Marko Hyvönen, Rainer Döffinger, Christine Parkinson, Sara Lear, Nicholas J Matheson, James E D Thaventhiran
21. June 2023 (GeNeRARe)
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

Commun Biol. 2023 Jun 21. >>PubMed-Link<<

Saeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, Julia Dahlmann, Alexandra Viktoria Busley, Marcel Buchholzer, Karolin Kleemann, Anne Schänzer, Andrea Borchardt, Andreas Hahn, Sebastian Kötter, Denny Schanze, Ruchika Anand, Florian Funk, Annette Vera Kronenbitter, Jürgen Scheller, Roland P Piekorz, Andreas S Reichert, Marianne Volleth, Matthew J Wolf, Ion Cristian Cirstea, Bruce D Gelb, Marco Tartaglia, Joachim P Schmitt, Martina Krüger, Ingo Kutschka, Lukas Cyganek, Martin Zenker, George Kensah, Mohammad R Ahmadian
20. June 2023 (STOP-FSGS)
Partner, Neighbor, Housekeeper and Dimension: 3D versus 2D Glomerular Co-Cultures Reveal Drawbacks of Currently Used Cell Culture Models

Int J Mol Sci. 2023 Jun 20. >>PubMed-Link<<

Anna Rederer, Victoria Rose, René Krüger, Linda Schmittutz, Izabela Swierzy, Lena Fischer, Ingo Thievessen, Julian Bauer, Oliver Friedrich, Mario Schiffer, Janina Müller-Deile
15. June 2023 (CONNECT-GENERATE)
Clinical associations and characteristics of the polyspecific intrathecal immune response in elderly patients with non-multiple sclerosis chronic autoimmune-inflammatory neurological diseases – a retrospective cross-sectional study

Front Neurol. 2023 Jun 15. >>PubMed-Link<<

Felix Brauchle, Daniel Rapp, Makbule Senel, André Huss, Jens Dreyhaupt, Veronika Klose, Marie Süße, Klarissa Hanja Stürner, Frank Leypoldt, Hayrettin Tumani, Jan Lewerenz
9. June 2023 (CONNECT-GENERATE)
Translational imaging of TSPO reveals pronounced innate inflammation in human and murine CD8 T cell-mediated limbic encephalitis

Sci Adv. 2023 Jun 9. >>PubMed-Link<<
Marco Gallus, Wolfgang Roll, Andre Dik, Cristina Barca, Bastian Zinnhardt, Gordon Hicking, Christoph Mueller, Venu Narayanan Naik, Max Anstötz, Julia Krämer, Leoni Rolfes, Lydia Wachsmuth, Julika Pitsch, Karen M J van Loo, Saskia Räuber, Hideho Okada, Catriona Wimberley, Christine Strippel, Kristin S Golombeck, Andreas Johnen, Stjepana Kovac, Catharina C Groß, Philipp Backhaus, Robert Seifert, Jan Lewerenz, Rainer Surges, Christian E Elger, Heinz Wiendl, Tobias Ruck, Albert J Becker, Cornelius Faber, Andreas H Jacobs, Jan Bauer, Sven G Meuth, Michael Schäfers, Nico Melzer
Details
9. June 2023 (Treat-ION)
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

Front Neurol. 2023 Jun 9. >>PubMed-Link<<

Simone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, Ingo Helbig, Yvonne Weber, Niklas Schwarz
6. June 2023 (GeNeRARe)
Improvement of synaptic plasticity and cognitive function in RASopathies-a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)

Trials. 2023 Jun 6. >>PubMed-Link<<

Nikolai H Jung, Silvia Egert-Schwender, Beate Schossow, Victoria Kehl, Ute Wahlländer, Louisa Brich, Viktoria Janke, Christiane Blankenstein, Martin Zenker, Volker Mall
5. June 2023 (GAIN)
Management of a patient with common variable immunodeficiency and hepatopathy

Allergy Asthma Clin Immunol. 2023 Jun 5. >>PubMed-Link<<

Lea Grümme, Hendrik Schulze-Koops
2. June 2023 (MitoNet)
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial

Neurology. 2023 Jun 2. >>PubMed-Link<<

Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D S Pitceathly, Russell Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, David A Brown, James A Shiffer, Michelango Mancuso for the MMPOWER-3 Trial Investigators
2. June 2023 (STOP-FSGS)
Characterizing Intraindividual Podocyte Morphology In Vitro with Different Innovative Microscopic and Spectroscopic Techniques

Neurology. 2023 Jun 2. >>PubMed-Link<<

Annalena Kraus, Victoria Rose, René Krüger, George Sarau, Lasse Kling, Mario Schiffer, Silke Christiansen, Janina Müller-Deile
1. June 2023 (TreatHSP.net)
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy

Nature. 2023 Jun. >>PubMed-Link<<

Hector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, Hartmut T Bocker, Alexis González, Eric Seemann, Patricia Franzka, Andrea Bock, Ramachandra M Bhaskara, Lutz Liebmann, Marina E Hoffmann, Istvan Katona, Nicole Koch, Joachim Weis, Ingo Kurth, Joseph G Gleeson, Fulvio Reggiori, Gerhard Hummer, Michael M Kessels, Britta Qualmann, Muriel Mari, Ivan Dikić, Christian A Hübner
Details
1. June 2023 (STOP-FSGS)
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

J Clin Invest. 2023 Jun 1. >>PubMed-Link<<

Fabian Braun, Ahmed Abed, Dominik Sellung, Manuel Rogg, Mathias Woidy, Oysten Eikrem, Nicola Wanner, Jessica Gambardella, Sandra D Laufer, Fabian Haas, Milagros N Wong, Bernhard Dumoulin, Paula Rischke, Anne Mühlig, Wiebke Sachs, Katharina von Cossel, Kristina Schulz, Nicole Muschol, Sören W Gersting, Ania C Muntau, Oliver Kretz, Oliver Hahn, Markus M Rinschen, Michael Mauer, Tillmann Bork, Florian Grahammer, Wei Liang, Thorsten Eierhoff, Winfried Römer, Arne Hansen, Catherine Meyer-Schwesinger, Guido Iaccarino, Camilla Tøndel, Hans-Peter Marti, Behzad Najafian, Victor G Puelles, Christoph Schell, Tobias B Huber
Details
1. June 2023 (ADDRess)
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study

Fam Cancer. 2023 Jun 23. >>PubMed-Link<<

Farina J Struewe, Sarah Schott, Martina de Zwaan, Christian P Kratz
1. June 2023 (STOP-FSGS)
Deep learning-based segmentation and quantification of podocyte foot process morphology suggests differential patterns of foot process effacement across kidney pathologies

Kidney Int. 2023 Jun. >>PubMed-Link<<

David Unnersjö-Jess, Linus Butt, Martin Höhne, German Sergei, Arash Fatehi, Anna Witasp, Annika Wernerson, Jaakko Patrakka, Peter F Hoyer, Hans Blom, Bernhard Schermer, Katarzyna Bozek, Thomas Benzing
1. June 2023 (MitoNet)
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genet Med. 2023 Jun. >>PubMed-Link<<

Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
29. May 2023 (STOP-FSGS)
A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology

Nat Commun. 2023 May 29. >>PubMed-Link<<

Julian Petersen, Lukas Englmaier, Artem V Artemov, Irina Poverennaya, Ruba Mahmoud, Thibault Bouderlique, Marketa Tesarova, Ruslan Deviatiiarov, Anett Szilvásy-Szabó, Evgeny E Akkuratov, David Pajuelo Reguera, Hugo Zeberg, Marketa Kaucka, Maria Eleni Kastriti, Jan Krivanek, Tomasz Radaszkiewicz, Kristína Gömöryová, Sarah Knauth, David Potesil, Zbynek Zdrahal, Ranjani Sri Ganji, Anna Grabowski, Miriam E Buhl, Tomas Zikmund, Michaela Kavkova, Håkan Axelson, David Lindgren, Rafael Kramann, Christoph Kuppe, Ferenc Erdélyi, Zoltán Máté, Gábor Szabó, Till Koehne, Tibor Harkany, Kaj Fried, Jozef Kaiser, Peter Boor, Csaba Fekete, Jan Rozman, Petr Kasparek, Jan Prochazka, Radislav Sedlacek, Vitezslav Bryja, Oleg Gusev, Igor Adameyko

Published Erratum
27. May 2023 (TreatHSP.net)
Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients

Ann Neurol. 2023 May 27. >>PubMed-Link<<

Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Hasmet A Hanagasi, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers, PREPARE consortium, Matthis Synofzik
27. May 2023 (TreatHSP.net)
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

Ann Neurol. 2023 May 27. >>PubMed-Link<<

Andreas Traschütz, Astrid D Adarmes-Gómez, Mathieu Anheim, Jonathan Baets, BernardBrais , Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Haşmet A Hanağası, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers; PREPARE Consortium; Matthis Synofzik
12. May 2023 (STOP-FSGS)
Insights into human kidney function from the study of Drosophila

Pediatr Nephrol. 2023 May 12. >>PubMed-Link<<

Sybille Koehler, Tobias B Huber
9. May 2023 (MitoNet)
Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy

Eur J Neurol. 2023 May 9. >>PubMed-Link<<

Benedikt Schworm, Jakob Siedlecki, Claudia Catarino, Bettina von Livonius, Daniel R Muth, Guenther Rudolph, Joachim Havla, Thomas Klopstock, Claudia Priglinger
9. May 2023 (HiChol)
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson’s disease

Clin Genet. 2023 May 9. >>PubMed-Link<<

Amelie Stalke, Annika Behrendt, Finja Hennig, Holger Gohlke, Nicole Buhl, Thea Reinkens, Ulrich Baumann, Brigitte Schlegelberger, Thomas Illig, Eva-Doreen Pfister, Britta Skawran
8. May 2023 (TreatHSP.net)
Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography

Eur J Neurol. 2023 May 8. >>PubMed-Link<<

Heike Jacobi, Markus Weiler, Georges Sam, Sabine Heiland, John M Hayes, Martin Bendszus, Rebecca Schüle, Jennifer C Hayes
4. May 2023 (Treat-ION)
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

Bioinformatics. 2023 May 4 >>PubMed-Link<<

Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
3. May 2023 (CONNECT-GENERATE)
Increased flexibility of brain dynamics in patients with multiple sclerosis

Brain Commun. 2023 May 3. >>PubMed-Link<<

Nina von Schwanenflug, Stefan P Koch, Stephan Krohn, Tommy A A Broeders, David M Lydon-Staley, Dani S Bassett, Menno M Schoonheim, Friedemann Paul, Carsten Finke
1. May 2023 (CONNECT-GENERATE)
Immunoreactivity to astrocytes in different forms of dementia: High prevalence of autoantibodies to GFAP

Brain Behav Immun Health. 2023 May. >>PubMed-Link<<

Paula Charlotte Barthel, Finja Staabs, Lucie Y Li, Maria Buthut, Carolin Otto, Klemens Ruprecht, Harald Prüss, Markus Höltje
1. May 2023 (GAIN)
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement

JAMA Netw Open. 2023 May 1. >>PubMed-Link<<

Pui Y Lee, Brad A Davidson, Roshini S Abraham, Blanche Alter, Juan I Arostegui, Katherine Bell, Alexandre Belot, Jenna R E Bergerson, Timothy J Bernard, Paul A Brogan, Yackov Berkun, Natalie T Deuitch, Dimana Dimitrova, Sophie A Georgin-Lavialle, Marco Gattorno, Bodo Grimbacher, Hasan Hashem, Michael S Hershfield, Rebecca N Ichord, Kazushi Izawa, Jennifer A Kanakry, Raju P Khubchandani, Femke C C Klouwer, Evan A Luton, Ada W Man, Isabelle Meyts, Joris M Van Montfrans, Seza Ozen, Janna Saarela, Gustavo C Santo, Aman Sharma, Ariane Soldatos, Rachel Sparks, Troy R Torgerson, Ignacio Leandro Uriarte, Taryn A B Youngstein, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner, Eugene P Chambers, Amanda K Ombrello; DADA2 Foundation
1. May 2023 (GAIN)
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

J Exp Med. 2023 May 1. >>PubMed-Link<<

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Aziz Bousfiha, Stuart E Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro; ESID Registry Working Party; COVID Human Genetic Effort; Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego
1. May 2023 (MitoNet)
Aberrant splicing prediction across human tissues

Nat Genet. 2023 May. >>PubMed-Link<<

Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur
Details
28. April 2023 (STOP-FSGS)
Repetitive administration of rituximab can achieve and maintain clinical remission in patients with MCD or FSGS

Sci Rep. 2023 Apr 28. >>PubMed-Link<<

Thomas Osterholt, Polina Todorova, Lucas Kühne, Rasmus Ehren, Lutz Thorsten Weber, Franziska Grundmann, Thomas Benzing, Paul Thomas Brinkkötter, Linus Alexander Völker
21. April 2023 (CONNECT-GENERATE)
Preclinical safety and efficacy of a therapeutic antibody that targets SARS-CoV-2 at the sotrovimab face but is escaped by Omicron

iScience. 2023 Apr 21. >>PubMed-Link<<

Jakob Kreye, S Momsen Reincke, Stefan Edelburg, Lara M Jeworowski, Hans-Christian Kornau, Jakob Trimpert, Peter Hombach, Sophia Halbe, Volker Nölle, Martin Meyer, Stefanie Kattenbach, Elisa Sánchez-Sendin, Marie L Schmidt, Tatjana Schwarz, Ruben Rose, Andi Krumbholz, Sophie Merz, Julia M Adler, Kathrin Eschke, Azza Abdelgawad, Dietmar Schmitz, Leif E Sander, Uwe Janssen, Victor M Corman, Harald Prüss
21. April 2023 (GAIN)
The GAIN Registry – a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

J Clin Immunol. 2023 Apr 21. >>PubMed-Link<<

Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R J Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
21. April 2023 (HiChol)
Diagnostic workup of suspected hereditary cholestasis in adults: a case report

Explor Dig Dis. 2023 Apr 21. >>Link<<

Carola Dröge , Tobias Götze, Annika Behrendt, Holger Gohlke, Verena Keitel
17. April 2023 (NEOCYST)
Validation of attenuation imaging coefficient, shear wave elastography, and dispersion as emerging tools for non-invasive evaluation of liver tissue in children

Front Pediatr. 2023 Apr 17. >>PubMed-Link<<

Metin Cetiner, Felix Schiepek, Ilja Finkelberg, Raphael Hirtz, Anja K Büscher
13. April 2023 (GeNeRARe)
Editorial: Identifying the isoform-specific roles of RAS paralogs in health and disease

Front Cell Dev Biol. 2023 Apr 13. >>PubMed-Link<<

Saeideh Nakhaei-Rad, Anna Fejtova
13. April 2023 (NEOCYST)
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies

Kidney Int Rep. 2023 Apr 13 >>PubMed-Link<<

Abdul A Halawi, Kathrin Burgmaier, Anja K Buescher, Ismail Dursun, Florian Erger, Matthias Galiano, Michaela Gessner, Ibrahim Gökce, Djalila Mekahli, Sevgi Mir, Lukasz Obrycki, Rukshana Shroff, Stella Stabouli, Maria Szczepanska, Ana Teixeira, Lutz T Weber, Andrea Wenzel Elke Wühl, Katarzyna Zachwieja, Jörg Dötsch, Franz Schaefer, Max C Liebau
10. April 2023 (Treat-ION)
Expansion-enhanced super-resolution radial fluctuations enable nanoscale molecular profiling of pathology specimens

Nat Nanotechnol. 2023 Apr >>PubMed-Link<<

Dominik Kylies, Marina Zimmermann, Fabian Haas, Maria Schwerk, Malte Kuehl, Michael Brehler, Jan Czogalla, Lola C Hernandez, Leonie Konczalla, Yusuke Okabayashi, Julia Menzel, Ilka Edenhofer, Sam Mezher, Hande Aypek, Bernhard Dumoulin, Hui Wu, Smilla Hofmann, Oliver Kretz, Nicola Wanner, Nicola M Tomas, Susanne Krasemann, Markus Glatzel, Christoph Kuppe, Rafael Kramann, Bella Banjanin, Rebekka K Schneider, Christopher Urbschat, Petra Arck, Nicola Gagliani, Marc van Zandvoort, Thorsten Wiech, Florian Grahammer, Pablo J Sáez, Milagros N Wong, Stefan Bonn, Tobias B Huber, Victor G Puelles
7. April 2023 (CONNECT-GENERATE)
Comparative Effects of Domain-Specific Human Monoclonal Antibodies Against LGI1 on Neuronal Excitability

Neurol Neuroimmunol Neuroinflamm. 2023 Apr 7. >>PubMed-Link<<

Josefine Sell, Vahid Rahmati, Marin Kempfer, Sarosh R Irani, Andreas Ritzau-Jost, Stefan Hallermann, Christian Geis
7. April 2023 (TreatHSP.net)
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Mov Disord. 2023 Apr 7. >>PubMed-Link<<

Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Björn H Falkenburger, Janina Gburek-Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe-Einsler, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Chiara Pane, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Dagmar Timmann, Stefan Vielhaber, Tobias B Haack, Bart P van de Warrenburg, Ginevra Zanni, Matthis Synofzik
1. April 2023 (MyPred)
Rare and potentially fatal – Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children

Cancer Genet. 2023 Apr. >>PubMed-Link<<

Ann-Cathrine Berking, Tim Flaadt, Yvonne Lisa Behrens, Ayami Yoshimi, Alfred Leipold, Ursula Holzer, Peter Lang, Leticia Quintanilla-Martinez, Brigitte Schlegelberger, Andreas Reiter, Charlotte Niemeyer, Brigitte Strahm, Gudrun Göhring

joint publication ADDRess/MyPred
1. April 2023 (ADDRess)
Rare and potentially fatal – Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children

Cancer Genet. 2023 Apr. >>PubMed-Link<<

Ann-Cathrine Berking, Tim Flaadt, Yvonne Lisa Behrens, Ayami Yoshimi, Alfred Leipold, Ursula Holzer, Peter Lang, Leticia Quintanilla-Martinez, Brigitte Schlegelberger, Andreas Reiter, Charlotte Niemeyer, Brigitte Strahm, Gudrun Göhring

joint publication ADDRess/MyPred
1. April 2023 (MyPred)
European standard clinical practice – Key issues for the medical care of individuals with familial leukemia

Eur J Med Genet. 2023 Apr. >>PubMed-Link<<

Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher, Alina Ferster, Jude Fitzgibbon, Gudrun Göhring, Henrik Hasle, Marjolijn C Jongmans, Alexandra Kolenova, Geertruijte Kronnie, Tim Lammens, Cristina Mecucci, Wojciech Mlynarski, Charlotte M Niemeyer, Francesc Sole, Tomasz Szczepanski, Esmé Waanders, Andrea Biondi, Marcin Wlodarski, Brigitte Schlegelberger, Tim Ripperger

joint publication ADDRess/MyPred
1. April 2023 (ADDRess)
European standard clinical practice – Key issues for the medical care of individuals with familial leukemia

Eur J Med Genet. 2023 Apr. >>PubMed-Link<<

Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher, Alina Ferster, Jude Fitzgibbon, Gudrun Göhring, Henrik Hasle, Marjolijn C Jongmans, Alexandra Kolenova, Geertruijte Kronnie, Tim Lammens, Cristina Mecucci, Wojciech Mlynarski, Charlotte M Niemeyer, Francesc Sole, Tomasz Szczepanski, Esmé Waanders, Andrea Biondi, Marcin Wlodarski, Brigitte Schlegelberger, Tim Ripperger

joint publication ADDRess/MyPred
1. April 2023 (STOP-FSGS)
Expansion-enhanced super-resolution radial fluctuations enable nanoscale molecular profiling of pathology specimens

Nat Nanotechnol. 2023 Apr. >>PubMed-Link<<

Dominik Kylies, Marina Zimmermann, Fabian Haas, Maria Schwerk, Malte Kuehl, Michael Brehler, Jan Czogalla, Lola C Hernandez, Leonie Konczalla, Yusuke Okabayashi, Julia Menzel, Ilka Edenhofer, Sam Mezher, Hande Aypek, Bernhard Dumoulin, Hui Wu, Smilla Hofmann, Oliver Kretz, Nicola Wanner, Nicola M Tomas, Susanne Krasemann, Markus Glatzel, Christoph Kuppe, Rafael Kramann, Bella Banjanin, Rebekka K Schneider, Christopher Urbschat, Petra Arck, Nicola Gagliani, Marc van Zandvoort, Thorsten Wiech, Florian Grahammer, Pablo J Sáez, Milagros N Wong, Stefan Bonn, Tobias B Huber, Victor G Puelles
30. March 2023 (HiChol)
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study

Hepatol Commun. 2023 Mar 30. >>PubMed-Link<<

Eva-Doreen Pfister, Veronika K Jaeger, André Karch, Denys Shay, Nagoud Schukfeh, Johanna Ohlendorf, Norman Junge, Imeke Goldschmidt, Amelie Stalke, Verena Keitel-Anselmino, Ulrich Baumann
22. March 2023 (CONNECT-GENERATE)
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

Neurol Neuroimmunol Neuroinflamm. 2023 Mar 22. >>PubMed-Link<<

Marc Nikolaus, Philipp Rausch, Kevin Rostásy, Annikki Bertolini, Ronny Wickström, Jessika Johannsen, Jonas Denecke, Markus Breu, Mareike Schimmel, Katharina Diepold, Martin Haeusler, Annegret Quade, Andrea Berger, Hendrik Rosewich, Claudia Steen, Katja von Au, Mona Dreesmann, Carsten Finke, Frederik Bartels, Angela M Kaindl, Markus Schuelke, Ellen Knierim
15. March 2023 (GAIN)
T-bet(high)CD21(low) B cells: the need to unify our understanding of a distinct B cell population in health and disease

Curr Opin Immunol. 2023 Mar 15. >>PubMed-Link<<

Baerbel Keller, Klaus Warnatz
15. March 2023 (TreatHSP.net)
Role of the adipocyte immune brain axis in Parkinson’s disease: friend or foe?

Neural Regen Res. 2023 Nov (online 2023 March 15) >>PubMed-Link<<

Martin Regensburger, Thomas M Kinfe
9. March 2023 (MyPred)
RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemia

Blood. 2023 Mar 9. >>PubMed-Link<<

Sofia Gialesaki, Daniela Bräuer-Hartmann, Hasan Issa, Raj Bhayadia, Oriol Alejo-Valle, Lonneke Verboon, Anna-Lena Schmell, Stephanie Laszig, Enikő Regényi, Konstantin Schuschel, Maurice Labuhn, Michelle Ng, Robert Winkler, Christian Ihling, Andrea Sinz, Markus Glaß, Stefan Hüttelmaier, Sören Matzk, Lena Schmid, Farina Josepha Strüwe, Sofie-Katrin Kadel, Dirk Reinhardt, Marie-Laure Yaspo, Dirk Heckl, Jan-Henning Klusmann
3. March 2023 (TreatHSP.net)
Monogenetic Forms of Parkinson’s Disease – Bridging the Gap Between Genetics and Biomarkers

Front Aging Neurosci. 2022 Mar 3. >>PubMed-Link<<

Lars Tönges, Eun Hae Kwon, Stephan Klebe
1. March 2023 (NEOCYST)
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care

Kidney Int Rep. 2023 Mar. >>PubMed-Link<<

Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, Lea Middelmann, Julika Borde, Eric Hahnen, Denise Krauß, Simon Oehm, Sita Arjune, Polina Todorova, Kathrin Burgmaier, Max Christoph Liebau, Franziska Grundmann, Bodo B Beck, Roman-Ulrich Müller
1. March 2023 (Treat-ION)
Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation

Stem Cell Res. 2023 Mar. >>PubMed-Link<<

Carolin Haag, Betül Uysal, Justus Marquetand, Heidi Löffler, Ulrike A Mau-Holzmann, Holger Lerche, Niklas Schwarz
1. March 2023 (CONNECT-GENERATE)
A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

Brain. 2023 Mar 1 (published online 28.03.2022). >>PubMed-Link<<

Christine Strippel, Marisol Herrera-Rivero, Mareike Wendorff, …, Nico Melzer; German Network for Research on Autoimmune Encephalitis (GENERATE)

Podcast zur Publikation im Podcast-Kanal des BRAIN-Journal (14.08.2023)
Details
1. March 2023 (STOP-FSGS)
Precision nephrology: from molecular diagnostics to an individualized therapy

Kidney Int. 2023 Mar. >>PubMed-Link<<

Anne K Mühlig, Jun Oh, Tobias B Huber
27. February 2023 (GAIN)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

J Clin Immunol. 2023 Feb 27. >>PubMed-Link<<

Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y Kreins, E Graham Davies, Dominik T Schneider, Horst V Bernuth, Thomas Klingebiel, Georg F Hoffmann, Ansgar Schulz, Fabian Hauck
24. February 2023 (MitoNet)
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis

Handb Clin Neurol. 2023. >>PubMed-Link<<

Lea D Schlieben, Holger Prokisch
23. February 2023 (MyPred)
Second allogeneic stem cell transplantation can rescue a significant proportion of patients with JMML relapsing after first allograft

Bone Marrow Transplant. 2023 Feb 23. >>PubMed-Link<<

Luca Vinci, Christian Flotho, Peter Noellke, Dirk Lebrecht, Riccardo Masetti, Valerie de Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Tayfun Güngör, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Cristina Diaz de Heredia, Jochen Buechner, Kirsi Jahnukainen, Krisztian Kallay, Ivana Bodova, Owen P Smith, Marco Zecca, Dorine Bresters, Peter Lang, Tania Nicole Masmas, Roland Meisel, Herbert Pichler, Miriam Erlacher, Gudrun Göhring, Franco Locatelli, Brigitte Strahm, Charlotte M Niemeyer, Ayami Yoshimi
15. February 2023 (CONNECT-GENERATE)
Glutamic acid decarboxylase antibody-associated neurological syndromes: Clinical and antibody characteristics and therapy response

J Neurol Sci. 2023 Feb 15. >>PubMed-Link<<

Marie Madlener, Christine Strippel, Franziska S Thaler, Kathrin Doppler, Klaus P Wandinger, Jan Lewerenz, Marius Ringelstein, Rosa Roessling, Til Menge, Jonathan Wickel, Christoph Kellingshaus, Sigrid Mues, Andrea Kraft, Andreas Linsa, Simone C Tauber, Florian Then Berg, Stefan T Gerner, Asterios Paliantonis, Alexander Finke, Josef Priller, Ingo Schirotzek, Marie Süße, Kurt W Sühs, Christian Urbanek, Makbule Senel, Claudia Sommer, Tania Kuempfel, Harald Pruess, Gereon R Fink, Frank Leypoldt, Nico Melzer, Michael P Malter; German Network for Research on Autoimmune Encephalitis (GENERATE)
15. February 2023 (Treat-ION)
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine

Ann Clin Transl Neurol. 2023 Feb 15. >>PubMed-Link<<

Peter Müller, Danielle S Takacs, Ulrike B S Hedrich, Rohini Coorg, Laura Masters, Kevin E Glinton, Hongzheng Dai, Jon A Cokley, James J Riviello, Holger Lerche, Edward C Cooper
13. February 2023 (Treat-ION)
Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Brain. 2023 Feb 13. >>PubMed-Link<<

Sumaiya Iqbal, Tobias Brünger, Eduardo Pérez-Palma, Marie Macnee, Andreas Brunklaus, Mark J Daly, Arthur J Campbell, David Hoksza, Patrick May, Dennis Lal
8. February 2023 (CONNECT-GENERATE)
Impaired Brain Growth in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Acute Disseminated Encephalomyelitis

Neurol Neuroimmunol Neuroinflamm. 2023 Feb 8. >>PubMed-Link<<

Frederik Bartels, Birgit Baumgartner, Annette Aigner, Graham Cooper, Astrid Blaschek, Eva Maria Wendel, Annikki Bertolini, Michael Karenfort, Matthias Baumann, Robert Cleaveland, Andreas Wegener-Panzer, Steffen Leiz, Michela Salandin, Peter Krieg, Tobias Reindl, Markus Reindl, Carsten Finke, Kevin Rostás
6. February 2023 (GAIN)
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

J Exp Med. 2023 Feb 6. >>PubMed-Link<<

Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian S Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur-Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Baris, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S Abraham, Alan P Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven; CARMIL2 Consortium; Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat
1. February 2023 (MitoNet)
Neuroimaging in mitochondrial disease

Handb Clin Neurol. 2023. >>PubMed-Link<<

Felix Distelmaier, Thomas Klopstock
1. February 2023 (MitoNet)
Clinical trials in mitochondrial diseases

Handb Clin Neurol. 2023. >>PubMed-Link<<

Amel Karaa, Thomas Klopstock
1. February 2023 (STOP-FSGS)
The Role of Platelet-Derived Growth Factor in Focal Segmental Glomerulosclerosis

J Am Soc Nephrol. 2023 Feb 1. >>PubMed-Link<<

Ting Jia, Tong Xu, Bart Smeets, Eva Miriam Buhl, Marcus Johannes Moeller, Jürgen Floege, Barbara Mara Klinkhammer, Peter Boor
1. February 2023 (CONNECT-GENERATE)
Reduced resilience of brain state transitions in anti-N-methyl-D-aspartate receptor encephalitis

Eur J Neurosci. 2023 Feb. >>PubMed-Link<<

Nina von Schwanenflug, Juan P Ramirez-Mahaluf, Stephan Krohn, Amy Romanello, Josephine Heine, Harald Prüss, Nicolas A Crossley, Carsten Finke
1. February 2023 (GeNeRARe)
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

J Am Soc Nephrol. 2023 Feb 1. >>PubMed-Link<<

Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M Connaughton, Steve Seltzsam, Nina Mann, Amar J Majmundar, Chen-Han W Wu, Ana C Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P Lifton, Karin M Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S Lienkamp, Mirjam M P Zegers, Friedhelm Hildebrandt
1. February 2023 (HiChol)
Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency

JHEP Rep. 2023 Feb 1. >>PubMed-Link<<

Jan Stindt, Carola Dröge, Elke Lainka, Simone Kathemann, Eva-Doreen Pfister, Ulrich Baumann, Amelie Stalke, Enke Grabhorn, Mohammad Ali Shagrani, Yael Mozer-Glassberg, Jane Hartley, Marianne Wammers, Caroline Klindt, Paulina Philippski, Roman Liebe, Diran Herebian, Ertan Mayatepek, Thomas Berg, Anjona Schmidt-Choudhury, Constanze Wiek, Helmut Hanenberg, Tom Luedde, Verena Keitel
30. January 2023 (Treat-ION)
Gentherapien für Epilepsie: Klinische Studien sind auf dem Weg [Gene Therapy for Epilepsy: Clinical Studies are on the Road]

Fortschr Neurol Psychiatr. 2023 Jan 30. >>PubMed-Link<<

Peter Müller, Holger Lerche
28. January 2023 (STOP-FSGS)
Next-Generation Morphometry for pathomics-data mining in histopathology

Nat Commun. 2023 Jan 28. >>PubMed-Link<<

David L Hölscher, Nassim Bouteldja, Mehdi Joodaki, Maria L Russo, Yu-Chia Lan, Alireza Vafaei Sadr, Mingbo Cheng, Vladimir Tesar, Saskia V Stillfried, Barbara M Klinkhammer, Jonathan Barratt, Jürgen Floege, Ian S D Roberts, Rosanna Coppo, Ivan G Costa, Roman D Bülow, Peter Boor
24. January 2023 (GAIN)
Common Variable Immunodeficiency: More Pathways than Roads to Rome

Annu Rev Pathol. 2023 Jan 24. >>PubMed-Link<<

Xiao P Peng, Andrés Caballero-Oteyza, Bodo Grimbacher
19. January 2023 (CONNECT-GENERATE)
Maternal synapsin autoantibodies are associated with neurodevelopmental delay

Front Immunol. 2023 Jan 19. >>PubMed-Link<<

Isabel Bünger, Konstantin L Makridis, Jakob Kreye, Marc Nikolaus, Eva Sedlin, Tim Ullrich, Christian Hoffmann, Johannes Vincent Tromm, Helle Foverskov Rasmussen, Dragomir Milovanovic, Markus Höltje, Harald Prüss, Angela M Kaindl
12. January 2023 (TreatHSP.net)
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

N Engl J Med. 2023 Jan 12. >>PubMed-Link<<

David Pellerin, Matt C Danzi, Carlo Wilke, …, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
10. January 2023 (GAIN)
Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)

Front Immunol. 2023 Jan 10. >>PubMed-Link<<

Timi Martelius, Mikko R J Seppänen, Klaus Warnatz
10. January 2023 (STOP-FSGS)
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy

Genome Med. 2023 Jan 10. >>PubMed-Link<<

Shuya Liu, Yu Zhao, Shun Lu, Tianran Zhang, Maja T Lindenmeyer, Viji Nair, Sydney E Gies, Guochao Wu, Robert G Nelson, Jan Czogalla, Hande Aypek, Stephanie Zielinski, Zhouning Liao, Melanie Schaper, Damian Fermin, Clemens D Cohen, Denis Delic, Christian F Krebs, Florian Grahammer, Thorsten Wiech, Matthias Kretzler, Catherine Meyer-Schwesinger, Stefan Bonn, Tobias B Huber
Details
9. January 2023 (TreatHSP.net)
Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegia

Ann Clin Transl Neurol. 2023 Jan 9. >>PubMed-Link<<

Evelyn Loris, Malte Ollenschläger, Teresa Greinwalder, Björn Eskofier, Jürgen Winkler, Heiko Gaßner, Martin Regensburger
6. January 2023 (CONNECT-GENERATE)
Cerebrospinal fluid proteomics indicates immune dysregulation and neuronal dysfunction in antibody associated autoimmune encephalitis

J Autoimmun. 2023 Jan 6. >>PubMed-Link<<

Saskia Räuber, Christina B Schroeter, Christine Strippel, Christopher Nelke, Tillmann Ruland, Andre Dik, Kristin S Golombeck, Liesa Regner-Nelke, Manuela Paunovic, Daniela Esser, Christian Münch, Felix Rosenow, Martijn van Duijn, Antonia Henes, Tobias Ruck, Ido Amit, Frank Leypoldt, Maarten J Titulaer, Heinz Wiendl, Sven G Meuth, Gerd Meyer Zu Hörste, Nico Melzer
5. January 2023 (MitoNet)
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Am J Hum Genet. 2023 Jan 5. >>PubMed-Link<<
>>Published Erratum<<

Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Patricia E Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V Mullegama, Timothy Blake Palculict, Daniel G Calame, Katharina Schwan, Alicia R P Aycinena, Rasa Traberg; Genomics England Research Consortium; Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B Agrawal
2. January 2023 (GAIN)
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

J Exp Med. 2023 Jan 2. >>PubMed-Link<<

Masato Ogishi, Rui Yang, Rémy Rodriguez, Dominic P Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J Pelham, Andrés Augusto Arias, Taushif Khan, Manar Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Laine, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul , Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gulsum Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L Schwartzberg, Sylvain Latour, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
1. January 2023 (Treat-ION)
Data-driven historical characterization of epilepsy-associated genes

Eur J Paediatr Neurol. 2023 Jan. >>PubMed-Link<<

Marie Macnee, Eduardo Pérez-Palma, Javier A López-Rivera, Alina Ivaniuk, Patrick May, Rikke S Møller, Dennis Lal
1. January 2023 (CONNECT-GENERATE)
Molecular disease mechanisms of human antineuronal monoclonal autoantibodies

Trends Mol Med. 2023 Jan. >>PubMed-Link<<

Sophie L Duong, Harald Prüss
1. January 2023 (TreatHSP.net)
Emerging roles of leptin in Parkinson’s disease: Chronic inflammation, neuroprotection and more?

Brain Behav Immun. 2023 Jan. >>PubMed-Link<<

Martin Regensburger, Shafqat Rasul Chaudhry, Hammad Yasin, Yining Zhao, Andreas Stadlbauer, Michael Buchfelder, Thomas Kinfe
20. December 2022 (CONNECT-GENERATE)
Neurochemical profile of BRAFV600E/AktT308D/S473D mouse gangliogliomas reveals impaired GABAergic system inhibition

Dev Neurosci. 2022 Dec 20. >>PubMed-Link<<

Maria Kyriazi, Philipp Müller, Julika Pitsch, Karen M J van Loo, Anne Quatraccioni, Thoralf Opitz, Susanne Schoch, Albert J Becker, Silvia Cases-Cunillera
14. December 2022 (GAIN)
COVID-19 vaccination in individuals with inflammatory rheumatic diseases

Nat Rev Rheumatol. 2022 Dec 14. >>PubMed-Link<<

Alla Skapenko, Hendrik Schulze-Koops
11. December 2022 (CONNECT-GENERATE)
Review and meta-analysis of neuropsychological findings in autoimmune limbic encephalitis with autoantibodies against LGI1, CASPR2, and GAD65 and their response to immunotherapy

Clin Neurol Neurosurg. 2022 Dec 11. >>PubMed-Link<<

Christoph Mueller, Saskia Elben, Gregory S Day, Pedro Alves, Julien Hebert, David F Tang-Wai, Olga Holtmann, Raffaele Iorio, Daniela Perani, Maarten J Titulaer, Niels Hansen, Thorsten Bartsch, Andreas Johnen, Zslot Illes, Leah Borm, Alice G Willison, Heinz Wiendl, Sven G Meuth, Stjepana Kovac, Jens Bölte, Nico Melzer
1. December 2022 (TreatHSP.net)
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study

Mov Disord. 2022 Dec. >>PubMed-Link<<

Christian Laßmann, Winfried Ilg, Marc Schneider, Maximilian Völker, Daniel F B Haeufle, Rebecca Schüle, Martin Giese, Matthis Synofzik, Ludger Schöls, Tim W Rattay
1. December 2022 (GAIN)
Inborn errors of immunity associated with defects of self-tolerance checkpoints: The CD28 family

Pediatr Allergy Immunol. 2022 Dec. >>PubMed-Link<<

Jorrell Rush-Kittle, Laura Gámez-Díaz, Bodo Grimbacher
1. December 2022 (STOP-FSGS)
Glomerular Endothelial Cell-Derived miR-200c Impairs Glomerular Homeostasis by Targeting Podocyte VEGF-A

Int J Mol Sci. 2022 Dec 1. >>PubMed-Link<<

Raluca Ursu, Nina Sopel, Alexandra Ohs, Ramesh Tati, Lisa Buvall, Jenny Nyström, Mario Schiffer, Janina Müller-Deile
1. December 2022 (TreatHSP.net)
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genet Med. 2022 Dec. >>PubMed-Link<<

Adriana P Rebelo, Ariel Ruiz, Maike F Dohrn, Melanie Wayand, Amjad Farooq, Matt C Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, Leslie Matalonga, Lisa Abreu, Guy Rouleau, Mehrdad A Estiar, Liedewei Van de Vondel, Ziv Gan-Or, Jonathan Baets, Rebecca Schüle, Stephan Zuchner
29. November 2022 (STOP-FSGS)
VPS34-dependent control of apical membrane function of proximal tubule cells and nutrient recovery by the kidney

Sci Signal. 2022 Nov 29. >>PubMed-Link<<

Markus M Rinschen, Jennifer L Harder, Madalina E Carter-Timofte, Luis Zanon Rodriguez, Carmen Mirabelli, Fatih Demir, Naziia Kurmasheva, Suresh K Ramakrishnan, Madlen Kunke, Yifan Tan, Anja Billing, Eileen Dahlke, Alexey A Larionov, Wibke Bechtel-Walz, Ute Aukschun, Marlen Grabbe, Rikke Nielsen, Erik I Christensen, Matthias Kretzler, Tobias B Huber, Christiane E Wobus, David Olagnier, Gary Siuzdak, Florian Grahammer, Franziska Theilig
22. November 2022 (GeNeRARe)
Glucocorticoid receptor and RAS: an unexpected couple in cancer

Trends Cell Biol. 2022 Nov 22. >>Web-Link<<

Ion C. Cirstea, Herwig P. Moll, Jan Tuckermann
19. November 2022 (MitoNet)
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

Metabolites. 2022 Nov 19. >>PubMed-Link<<

Pushpa Raj Joshi, Maria Gräfin Zu Stolberg-Stolberg, Leila Motlagh Scholle, Beate Meinhardt, Elena Pegoraro, Stephan Zierz
16. November 2022 (STOP-FSGS)
Paraoxonase 2 (PON2) Deficiency Reproduces Lipid Alterations of Diabetic and Inflammatory Glomerular Disease and Affects TRPC6 Signaling

Cells. 2022 Nov 16. >>PubMed-Link<<

Henning Hagmann, Naghmeh Hassanzadeh Khayyat , Cem Oezel, Antonios Papadakis, Alexander Kuczkowski, Thomas Benzing, Erich Gulbins, Stuart Dryer, Paul T Brinkkoetter
15. November 2022 (TreatHSP.net)
The Effects of an Individualized Smartphone-Based Exercise Program on Self-defined Motor Tasks in Parkinson Disease: Pilot Interventional Study

JMIR Rehabil Assist Technol. 2022 Nov 15. >>PubMed-Link<<

Heiko Gaßner, Jana Friedrich, Alisa Masuch, Jelena Jukic, Sabine Stallforth, Martin Regensburger, Franz Marxreiter, Jürgen Winkler, Jochen Klucken
13. November 2022 (TreatHSP.net)
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia

Nutrients. 2022 Nov 13. >>PubMed-Link<<

Martin Regensburger, Laura Krumm, Manuel Alexander Schmidt, Andreas Schmid, Imke Tabea Spatz, Dominique Cornelius Marterstock, Christoph Kopp, Zacharias Kohl, Arnd Doerfler, Thomas Karrasch, Beate Winner, Jürgen Winkler
12. November 2022 (STOP-FSGS)
Inflammation and vascular remodeling in COVID-19 hearts

Angiogenesis. 2022 Nov 12. >>PubMed-Link<<

Christopher Werlein, Maximilian Ackermann, Helge Stark, Harshit R Shah, Alexandar Tzankov, Jasmin Dinonne Haslbauer, Saskia von Stillfried, Roman David Bülow, Ali El-Armouche, Stephan Kuenzel, Jan Lukas Robertus, Marius Reichardt, Axel Haverich, Anne Höfer, Lavinia Neubert, Edith Plucinski, Peter Braubach, Stijn Verleden, Tim Salditt, Nikolaus Marx, Tobias Welte, Johann Bauersachs, Hans-Heinrich Kreipe, Steven J Mentzer, Peter Boor, Stephen M Black, Florian Länger, Mark Kuehnel, Danny Jonigk
10. November 2022 (TreatHSP.net)
An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons

Nat Commun. 2022 Nov 10. >>PubMed-Link<<

Florian Krach, Judith Stemick, Tom Boerstler, Alexander Weiss, Ioannis Lingos, Stephanie Reischl, Holger Meixner, Sonja Ploetz, Michaela Farrell, Ute Hehr, Zacharias Kohl, Beate Winner, Juergen Winkler
3. November 2022 (TreatHSP.net)
Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4

Int J Mol Sci. 2022 Nov 3. >>PubMed-Link<<

Christoph Kessler, Christoph Ruschil, Ahmed Abdelhak, Carlo Wilke, Aleksandra Maleska, Jens Kuhle, Markus Krumbholz, Markus C Kowarik, Rebecca Schüle
2. November 2022 (Treat-ION)
In vitro effects of eslicarbazepine (S-licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders

Br J Pharmacol. 2022 Nov 2. >>PubMed-Link<<

Erva Bayraktar, Yuanyuan Liu, Lukas Sonnenberg, Ulrike B S Hedrich, Yildirim Sara, Ahmed Eltokhi, Hang Lyu, Holger Lerche, Thomas V Wuttke, Stephan Lauxmann
2. November 2022 (GAIN)
Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

Front Immunol. 2022 Nov 2. >>PubMed-Link<<

Máté Krausz, Noriko Mitsuiki, Valeria Falcone, Johanna Komp, Sara Posadas-Cantera, Hanns-Martin Lorenz, Jiri Litzman, Daniel Wolff, Maria Kanariou, Anita Heinkele, Carsten Speckmann, Georg Häcker, Hartmut Hengel, Laura Gámez-Díaz, Bodo Grimbacher
1. November 2022 (MyPred)
Pearson syndrome-like anemia induced by accumulation of mutant mtDNA and anemia with imbalanced white blood cell lineages induced by Drp1 deletion in a murine model

Pharmacol Res. 2022 Nov. >>PubMed-Link<<

Kaori Ishikawa, Yo Honma, Ayami Yoshimi, Shun Katada, Takaya Ishihara, Naotada Ishihara, Kazuto Nakada
25. October 2022 (GAIN)
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency-Associated Villous Atrophy and Norovirus Infection

J Clin Immunol. 2022 Oct 25. >>PubMed-Link<<

Valentina Strohmeier, Geoffroy Andrieux, Susanne Unger, Anna Pascual-Reguant, Adam Klocperk, Maximilian Seidl, Otavio Cabral Marques, Marleen Eckert, Katja Gräwe, Michelle Shabani, Caroline von Spee-Mayer, David Friedmann, Ina Harder, Sylvia Gutenberger, Baerbel Keller, Michele Proietti, Alla Bulashevska, Bodo Grimbacher, Jan Provaznik, Vladimir Benes, Sigune Goldacker, Christoph Schell, Anja E Hauser, Melanie Boerries, Peter Hasselblatt, Klaus Warnatz
20. October 2022 (GAIN)
Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells

Genes (Basel). 2022 Oct 20. >>PubMed-Link<<

Saskia König, Manfred Fliegauf, Manuel Rhiel, Bodo Grimbacher, Tatjana I Cornu, Toni Cathomen, Claudio Mussolino
18. October 2022 (GeNeRARe)
Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model

Front Cell Dev Biol. 2022 Oct 18. >>PubMed-Link<<

Sayantan Nandi, Saravanakkumar Chennappan, Yannik Andrasch, Miray Fidan, Melanie Engler, Mubashir Ahmad, Jan P Tuckermann, Martin Zenker, Ion Cristian Cirstea
17. October 2022 (MyPred)
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Orphanet J Rare Dis. 2022 Oct 17. >>PubMed-Link<<

Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer, Sarah C Grünert
15. October 2022 (ADDRess)
Health Behavior and Cancer Prevention among Adults with Li-Fraumeni Syndrome and Relatives in Germany-A Cohort Description

Curr Oncol. 2022 Oct 15. >>PubMed-Link<<

Juliane Nees, Senta Kiermeier, Farina Struewe, Myriam Keymling, Imad Maatouk, Christian P Kratz, Sarah Schott
11. October 2022 (GAIN)
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

J Allergy Clin Immunol. 2022 Oct 11. >>PubMed-Link<<

Jennifer W Leiding, Tiphanie P Vogel, Valentine Santarlas, Rahul Mhaskar, Madison R Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai , Charlotte Cunningham-Rundles, Cullen M Dutmer, Svetlana O Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S Bauer, Sarah E Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E Sullivan, Eric Allenspach, Neil Romberg, Sean G Deane, Benjamin T Prince, Melissa J Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris 22, Lisa M Bartnikas, Amy Chang Berger, Tracy A Briggs, Shannon Brothers, Vanessa Bundy, Alice Y Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C Cook, Mukesh M Desai, Ute Fischer, David A Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen 15, Tarja Heiskanen-Kosma, Hal M Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suegeorgz, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth; STAT3 GOF Working Group members; Mikko R J Seppänen, Troy R Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G Tangye, Megan A Cooper, Joshua D Milner, Lisa R Forbes Satter
10. October 2022 (MyPred)
Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies

Hemasphere. 2022 Oct 12. >>PubMed-Link<<

Martin Kirschner, Benjamin Rolles, Martina Crysandt, Christoph Röllig, Friedrich Stölzel, Michael Kramer, Martin Bornhäuser, Hubert Serve, Uwe Platzbecker, Carsten Müller-Tidow, Kim Kricheldorf, Margherita Vieri, Matthias Begemann, Angela Maurer, Marcin W Wlodarski, Sushree S Sahoo, Tim H Brümmendorf, Edgar Jost, Fabian Beier
6. October 2022 (GAIN)
Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency

Front Immunol. 2022 Oct. >>PubMed-Link<<

Pauline van Schouwenburg, Susanne Unger, Kathryn J Payne, Fabian M P Kaiser, Ingrid Pico-Knijnenburg, Jens Pfeiffer, Oliver Hausmann, David Friedmann, Michelle Erbel, Maximilian Seidl, David van Zessen, Andrew P Stubbs, Mirjam van der Burg, Klaus Warnatz
3. October 2022 (GAIN)
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

J Exp Med. 2022 Oct 3. >>PubMed-Link<<

Masato Ogishi , Andrés Augusto Arias, Rui Yang, Ji Eun Han, Peng Zhang, Darawan Rinchai, Joshua Halpern, Jeanette Mulwa, Narelle Keating, Maya Chrabieh, Candice Lainé, Yoann Seeleuthner, Noé Ramírez-Alejo, Nioosha Nekooie-Marnany, Andrea Guennoun, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Sara S. Kilic, Yoshiyuki Minegishi, Stephan Ehl, Petra Kaiser-Labusch, Yasemin Kendir-Demirkol, Flore Rozenberg, Abderrahmane Errami, Shen-Ying Zhang, Qian Zhang, Jonathan Bohlen, Quentin Philippot, Anne Puel, Emmanuelle Jouanguy, Zahra Pourmoghaddas, Shahrzad Bakhtiar, Andre M. Willasch, Gerd Horneff, Genevieve Llanora, Lynette P. Shek, Louis Y.A. Chai, Sen Hee Tay, Hamid H. Rahimi, Seyed Alireza Mahdaviani, Serdar Nepesov, Aziz A. Bousfiha, Emine Hafize Erdeniz, Adem Karbuz, Nico Marr, Carmen Navarrete, Mehdi Adeli, Lennart Hammarstrom, Hassan Abolhassani, Nima Parvaneh, Saleh Al Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Maryam Nourizadeh, Mostafa Moin, Rand Arnaout, Saad Alshareef, Jamila El-Baghdadi, Ferah Genel, Roya Sherkat, Ayça Kiykim, Esra Yücel, Sevgi Keles, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
1. October 2022 (Treat-ION)
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine. 2022 Oct. >>PubMed-Link<<

Artikel in der Rubrik “Gesichter der Gesundheitsforschung” des BMBF

Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J Steinhoff, Yvonne G Weber, Pascale Keo-Kosal, Samuel F Berkovic, Michael S Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
Details
1. October 2022 (STOP-FSGS)
Integrating basic science with translational research: the 13th International Podocyte Conference 2021

Kidney Int. 2022 Oct. >>PubMed-Link<<

Franziska Lausecker, Sybille Koehler, Maryline Fresquet, Richard W Naylor, Pinyuan Tian, Nicola Wanner, Fabian Braun, Linus Butt, Tobias B Huber, Rachel Lennon
1. October 2022 (STOP-FSGS)
Pro-oxidative priming but maintained cardiac function in a broad spectrum of murine models of chronic kidney disease

Redox Biol. 2022 Oct. >>PubMed-Link<<

Julia Wollenhaupt, Janina Frisch, Eva Harlacher, Dickson W L Wong, Han Jin, Corinna Schulte, Sonja Vondenhoff, Julia Moellmann, Barbara Mara Klinkhammer, Li Zhang, Adelina Baleanu-Curaj, Elisa A Liehn, Thimoteus Speer, Andrey Kazakov, Christian Werner, Emiel P C van der Vorst, Simina-Ramona Selejan, Mathias Hohl, Michael Böhm, Rafael Kramann, Erik A L Biessen, Michael Lehrke, Nikolaus Marx, Joachim Jankowski, Christoph Maack, Peter Boor, Leticia Prates Roma, Heidi Noels
1. October 2022 (MyPred)
Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party

Transplant Cell Ther. 2022 Oct. >>PubMed-Link<<

Simone Cesaro, Jean Donadieu, Marco Cipolli, Jean Hugues Dalle, Jan Styczynski, Riccardo Masetti, Brigitte Strahm, Margherita Mauro, Amal Alseraihy, Mahmoud Aljurf, Carlo Dufour, Regis Peffault de la Tour
29. September 2022 (STOP-FSGS)
Adversarial attacks and adversarial robustness in computational pathology

Nat Commun. 2022 Sep 29. >>PubMed-Link<<

Narmin Ghaffari Laleh, Daniel Truhn, Gregory Patrick Veldhuizen, Tianyu Han, Marko van Treeck, Roman D Buelow, Rupert Langer, Bastian Dislich, Peter Boor, Volkmar Schulz, Jakob Nikolas Kather
24. September 2022 (GAIN)
The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial

Contemp Clin Trials Commun. 2022 Sep 24. >>PubMed-Link<<

Máté Krausz, Annette Uhlmann, Ina Caroline Rump, Gabriele Ihorst, Sigune Goldacker, Georgios Sogkas, Sara Posadas-Cantera, Reinhold Schmidt, Manuel Feißt, Laia Alsina, Ingunn Dybedal, Mike Recher, Klaus Warnatz, Bodo Grimbacher
16. September 2022 (HiChol)
Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3

Hepatol Commun. 2022 Sep 16. >>PubMed-Link<<

Annika Behrendt, Pegah Golchin, Filip König, Daniel Mulnaes, Amelie Stalke, Carola Dröge, Verena Keitel, Holger Gohlke
16. September 2022 (CONNECT-GENERATE)
Functional connectivity dynamics reflect disability and multi-domain clinical impairment in patients with relapsing-remitting multiple sclerosis

Neuroimage Clin. 2022 Sep 16. >>PubMed-Link<<

Amy Romanello, Stephan Krohn, Nina von Schwanenflug, Claudia Chien, Judith Bellmann-Strobl, Klemens Ruprecht, Friedemann Paul, Carsten Finke
10. September 2022 (STOP-FSGS)
Recommendations on compiling test datasets for evaluating artificial intelligence solutions in pathology

Mod Pathol. 2022 Sep 10. >>PubMed-Link<<

André Homeyer, Christian Geißler, Lars Ole Schwen, Falk Zakrzewski, Theodore Evans, Klaus Strohmenger, Max Westphal, Roman David Bülow, Michaela Kargl, Aray Karjauv, Isidre Munné-Bertran, Carl Orge Retzlaff, Adrià Romero-López, Tomasz Sołtysiński, Markus Plass, Rita Carvalho, Peter Steinbach, Yu-Chia Lan, Nassim Bouteldja, David Haber, Mateo Rojas-Carulla, Alireza Vafaei Sadr, Matthias Kraft, Daniel Krüger, Rutger Fick, Tobias Lang, Peter Boor, Heimo Müller, Peter Hufnagl, Norman Zerbe
1. September 2022 (NEOCYST)
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Kidney Int Rep. 2022 Jun 16. >>PubMed-Link<<

Jens Christian König, Rebeka Karsay, Joachim Gerß, Karl-Peter Schlingmann, Mareike Dahmer-Heath, Anna-Katharina Telgmann, Sabine Kollmann, Gema Ariceta, Valentine Gillion, Detlef Bockenhauer, Aurélia Bertholet-Thomas, Antonio Mastrangelo, Olivia Boyer, Marc Lilien, Stéphane Decramer, Joost P Schanstra, Martin Pohl, Raphael Schild, Stefanie Weber, Julia Hoefele, Jens Drube, Metin Cetiner, Matthias Hansen, Julia Thumfart, Burkhard Tönshoff, Sandra Habbig, Max Christoph Liebau, Martin Bald, Carsten Bergmann, Petra Pennekamp and Martin Konrad on behalf of the NEOCYST consortium
1. September 2022 (MitoNet)
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

Kidney Int. 2022 Sept. >>PubMed-Link<<

Stefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L Stenton, Alexey N Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium, Franz Schaefer
1. September 2022 (MitoNet)
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

Kidney Int. 2022 Sept. >>PubMed-Link<<

Stefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L Stenton, Alexey N Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun , Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium, Franz Schaefer
1. September 2022 (ADDRess)
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome

Am J Surg Pathol. 2022 Sep 1. >>PubMed-Link<<

Martin Hasselblatt, Christian Thomas, Aniello Federico, Karolina Nemes, Pascal D Johann, Brigitte Bison, Susanne Bens, Sonja Dahlum, Uwe Kordes, Antje Redlich, Lienhard Lessel, Kristian W Pajtler, Christian Mawrin, Ulrich Schüller, Kay Nolte, Christof M Kramm, Felix Hinz, Felix Sahm, Caterina Giannini, Judith Penkert, Christian P Kratz, Stefan M Pfister, Reiner Siebert, Werner Paulus, Marcel Kool, Michael C Frühwald
1. September 2022 (Treat-ION)
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

EBioMedicine. 2022 Sep. >>PubMed-Link<<

Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber
1. September 2022 (GAIN)
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis

RMD Open. 2022 Sep. >>PubMed-Link<<

Faranaz Atschekzei, Natalia Dubrowinskaja, Manfred Anim, Thea Thiele, Torsten Witte, Georgios Sogkas
31. August 2022 (MitoNet)
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

Nutrients. 2022 Aug 31. >>PubMed-Link<<

Bigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A Mayr, Holger Prokisch, Saskia B Wortmann
29. August 2022 (Treat-ION)
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Brain. 2022 Aug 29. >>PubMed-Link<<

Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S Møller, Stephanie Schorge, Sameer Zuberi, Joseph Symonds, Johannes R Lemke, Andreas Brunklaus, Stephen F Traynelis, Patrick May, Dennis Lal
29. August 2022 (GAIN)
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

Front Immunol. 2022 Aug 29. >>PubMed-Link<<

Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, Nadezhda Camacho-Ordonez, Hassan Abolhassani, Laia Alsina, Faranaz Atschekzei, Delfien J Bogaert, Siobhan O Burns, Joseph A Church, Gregor Dückers, Alexandra F Freeman, Lennart Hammarström, Leif Gunnar Hanitsch, Tessa Kerre, Robin Kobbe, Svetlana O Sharapova, Kathrin Siepermann, Carsten Speckmann, Sophie Steiner, Nisha Verma, Jolan E Walter, Emma Westermann-Clark, Sigune Goldacker, Klaus Warnatz, Markku Varjosalo, Bodo Grimbacher
26. August 2022 (Treat-ION)
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

Front Pediatr. 2022 Aug 26. >>PubMed-Link<<

Veronika M Berghold, Mahmoud Koko, Riccardo Berutti, Barbara Plecko
23. August 2022 (TreatHSP.net)
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction

Hum Mol Genet. 2022 Aug 23. >>PubMed-Link<<

Lara Marrone, Paolo M Marchi, Christopher P Webster, Raffaele Marroccella, Ian Coldicott, Steven Reynolds, João Alves-Cruzeiro, Zih-Liang Yang, Adrian Higginbottom, Mukhran Khundadze, Pamela J Shaw, Christian A Hübner, Matthew R Livesey, Mimoun Azzouz
23. August 2022 (NEOCYST)
Perspectives on Drug Development in Autosomal Recessive Polycystic Kidney Disease

Clin J Am Soc Nephrol. 2022 Aug 23. >>PubMed-Link<<

Max C Liebau, Erum A Hartung, Ronald D Perrone
22. August 2022 (CONNECT-GENERATE)
Optical analysis of glutamate spread in the neuropil

Cereb Cortex. 2022 Aug 22. >>PubMed-Link<<

E A Matthews, W Sun, S M McMahon, M Doengi, L Halka, S Anders, J A Müller, P Steinlein, N S Vana, G van Dyk, J Pitsch, A J Becker, A Pfeifer, E T Kavalali, A Lamprecht, C Henneberger, V Stein, S Schoch, D Dietrich
19. August 2022 (GAIN)
The long term vaccine-induced anti-SARS-CoV-2 immune response is impaired in quantity and quality under TNFα blockade.

J Med Virol., 2022 Aug 19. >>PubMed-Link<<

Ulf Martin Geisen, Ruben Rose, Franziska Neumann, Maria Ciripoi, Lena Vullriede, Hayley M Reid, Dennis Kristopher Berner, Federico Bertoglio, Paula Hoff, Michael Hust, Ann Carolin Longardt, Thomas Lorentz, Gabriela Rios Martini, Carina Saggau, Jan Henrik Schirmer, Maren Schubert, Melike Sümbül, Florian Tran, Mathias Voß, Rainald Zeuner, Peter J Morrison, Petra Bacher, Helmut Fickenscher, Sascha Gerdes, Matthias Peipp, Stefan Schreiber, Andi Krumbholz, Bimba Franziska Hoyer
Details
18. August 2022 (MyPred)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<

Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin

joint publication ADDRess/MyPred
18. August 2022 (ADDRess)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<

Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin

joint publication ADDRess/MyPred//mitoNET
18. August 2022 (MitoNet)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<

Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin

joint publication ADDRess/MyPred//mitoNET
16. August 2022 (ADDRess)
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

J Hematol Oncol. 2022 Aug 16. >>PubMed-Link<<

Judith Penkert, Farina J Strüwe, Christina M Dutzmann, Beate B Doergeloh, Emilie Montellier, Claire Freycon, Myriam Keymling, Heinz-Peter Schlemmer, Birte Sänger, Beatrice Hoffmann, Tanja Gerasimov, Claudia Blattmann, Sebastian Fetscher, Michael Frühwald, Simone Hettmer, Uwe Kordes, Vita Ridola, Sabine Kroiss Benninger, Angela Mastronuzzi, Sarah Schott, Juliane Nees, Aram Prokop, Antje Redlich, Markus G Seidel, Stefanie Zimmermann, Kristian W Pajtler, Stefan M Pfister, Pierre Hainaut, Christian P Kratz
16. August 2022 (GAIN)
Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI

Front Immunol. 2022 Aug 16. >>PubMed-Link<<

Neftali Ramirez, Sara Posadas-Cantera, Niko Langer, Andres Caballero Garcia de Oteyza, Michele Proietti, Baerbel Keller, Fangwen Zhao, Victoria Gernedl, Matteo Pecoraro, Hermann Eibel, Klaus Warnatz, Esteban Ballestar, Roger Geiger, Claudia Bossen, Bodo Grimbacher
15. August 2022 (CONNECT-GENERATE)
Spectrum of Novel Anti-Central Nervous System Autoantibodies in the Cerebrospinal Fluid of 119 Patients With Schizophreniform and Affective Disorders

Biol Psychiatry. 2022 Aug 15. >>PubMed-Link<<

Dominique Endres, Katharina von Zedtwitz, Isabelle Matteit, Isabel Bünger, Helle Foverskov-Rasmussen, Kimon Runge, Bernd Feige, Andrea Schlump, Simon Maier, Kathrin Nickel, Benjamin Berger, Miriam A Schiele, Janet L Cunningham, Katharina Domschke, Harald Prüss, Ludger Tebartz van Elst
11. August 2022 (MyPred)
The role of inflammation in hematopoiesis and bone marrow failure: What can we learn from mouse models?

Front Immunol. 2022 Aug 1. >>PubMed-Link<<

Jun Wang, Miriam Erlacher, Juncal Fernandez-Orth
9. August 2022 (MitoNet)
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

Orphanet J Rare Dis. 2022 Aug 9. >>PubMed-Link<<

Julia Zibold, Bettina von Livonius, Hana Kolarova, Günter Rudolph, Claudia S Priglinger, Thomas Klopstock, Claudia B Catarino
9. August 2022 (GeNeRARe)
CDC42-IQGAP Interactions Scrutinized: New Insights into the Binding Properties of the GAP-Related Domain

Int J Mol Sci. 2022 Aug 9. >>PubMed-Link<<

Niloufar Mosaddeghzadeh, Silke Pudewell, Farhad Bazgir, Neda S Kazemein Jasemi, Oliver H F Krumbach, Lothar Gremer, Dieter Willbold, Radovan Dvorsky, Mohammad R Ahmadian
9. August 2022 (GAIN)
The long term vaccine-induced anti-SARS-CoV-2 immune response is impaired in quantity and quality under TNFα blockade

J Med Virol. 2022 Aug 9. >>PubMed-Link<<

Ulf Martin Geisen, Ruben Rose, Franziska Neumann, Maria Ciripoi, Lena Vullriede, Hayley M Reid, Dennis Kristopher Berner, Federico Bertoglio, Paula Hoff, Michael Hust, Ann Carolin Longardt, Thomas Lorentz, Gabriela Rios Martini, Carina Saggau, Jan Henrik Schirmer, Maren Schubert, Melike Sümbü, Florian Tran, Mathias Voß, Rainald Zeuner, Peter J Morrison, Petra Bacher, Helmut Fickenscher, Sascha Gerdes, Matthias Peipp, Stefan Schreiber, Andi Krumbholz, Bimba Franziska Hoyer
4. August 2022 (NEOCYST)
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

Genes Dis. 2022 Aug 4. >>PubMed-Link<<

Sebastian Sewerin, Jörg Piontek, Ria Schönauer, Sonja Grunewald, Angelika Rauch, Steffen Neuber, Carsten Bergmann, Dorothee Günzel, Jan Halbritter
2. August 2022 (GeNeRARe)
T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation

Front Immunol. 2022 Aug 2. >>PubMed-Link<<

Clemens Cammann, Nicole Israel, Sarah Frentzel, Andreas Jeron, Eylin Topfstedt, Thomas Schüler, Luca Simeoni, Martin Zenker, Hans Joerg Fehling, Burkhart Schraven, Dunja Bruder, Ulrike Seifert
2. August 2022 (TreatHSP.net)
Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia

Brain. 2022 Aug.

Tania Rizo, Lisa Gebhardt, Julia Riedlberger, Esther Eberhardt, Lars Fester, Dalia Alansary, Jürgen Winkler, Soeren Turan, Philipp Arnold, Barbara A. Niemeyer, Michael J. M. Fischer, Beate Winner
29. July 2022 (TreatHSP.net)
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia

Orphanet J Rare Dis. 2022 Jul 29. >>PubMed-Link<<

Kathrin S Utz, Zacharias Kohl, Dominique Cornelius Marterstock, Arnd Doerfler, Jürgen Winkler, Manuel Schmidt, Martin Regensburger
22. July 2022 (GAIN)
Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cells

Sci Immunol. 2022 Jul 22. >>PubMed-Link<<

Rui Yang, Danielle T Avery, Katherine J L Jackson, Masato Ogishi, Ibtihal Benhsaien, Likun Du, Xiaofei Ye, Jing Han, Jérémie Rosain, Jessica N Peel, Marie-Alexandra Alyanakian, Bénédicte Neven, Sarah Winter, Anne Puel, Bertrand Boisson, Kathryn J Payne, Melanie Wong, Amanda J Russell, Yoko Mizoguchi, Satoshi Okada, Gulbu Uzel, Christopher C Goodnow, Sylvain Latour, Jalila El Bakkouri, Aziz Bousfiha, Kahn Preece, Paul E Gray, Baerbel Keller, Klaus Warnatz, Stéphanie Boisson-Dupuis, Laurent Abel, Qiang Pan-Hammarström, Jacinta Bustamante, Cindy S Ma, Jean-Laurent Casanova, Stuart G Tangye
19. July 2022 (STOP-FSGS)
Renal inflamm-aging provokes intra-graft inflammation following experimental kidney transplantation

Am J Transplant. 2022 Jul 19. >>PubMed-Link<<

An He, Attia Sarwar, Linda Marie Laura Thole, Janine Siegle, Arne Sattler, Muhammad Imtiaz Ashraf, Vanessa Proß, Carolin Stahl, Theresa Dornieden, Yasmin Bergmann, Paul Viktor Ritschl, Susanne Ebner, Karolin Wiebke Hublitz, Efstathios Gregorios Stamatiades, Roman David Bülow, Peter Boor, Katja Kotsch
19. July 2022 (Treat-ION)
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Neurology. 2022 Jul 19. >>PubMed-Link<<

Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffner, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E Scheffer, Pasquale Striano, Rikke S Møller, Elena Gardella, Sarah Weckhuysen
17. July 2022 (ADDRess)
A New Multi-Color FISH Assay for Brush Biopsy-Based Detection of Chromosomal Aneuploidy in Oral (Pre)Cancer in Patients with Fanconi Anemia

Cancers (Basel). 2022 Jul 17. >>PubMed-Link<<

Bruno Eduardo Silva de Araujo, Mona Markgraf, Isabela Karoline de Santana Almeida Araujo, Eunike Velleuer, Ralf Dietrich, Natalia Pomjanski, Martin Schramm
15. July 2022 (TreatHSP.net)
The Quest for Anti-α-Synuclein Antibody Specificity-Lessons Learnt From Flow Cytometry Analysis

Front Neurol. 2022 Jul 15. >>PubMed-Link<<

Lukas Leupold, Veronika Sigutova, Elizaveta Gerasimova, Martin Regensburger, Sebastian Zundler, Friederike Zunke, Wei Xiang, Beate Winner, Iryna Prots
15. July 2022 (GeNeRARe)
Cross-Activation of Hemichannels/Gap Junctions and Immunoglobulin-Like Domains in Innate-Adaptive Immune Responses

Front Immunol. 2022 Jul 15. >>PubMed-Link<<

Jiang-Hui Meng, Chang-Xu Chen, Mohammad R Ahmadian, Hong Zan, Kai-Jun Luo, Jean X Jiang
15. July 2022 (GeNeRARe)
Cross-Activation of Hemichannels/Gap Junctions and Immunoglobulin-Like Domains in Innate-Adaptive Immune Responses

Front Immunol. 2022 Jul 15. >>PubMed-Link<<

Jiang-Hui Meng, Chang-Xu Chen, Mohammad R Ahmadian, Hong Zan, Kai-Jun Luo, Jean X Jiang
14. July 2022 (MyPred)
Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

Cancers (Basel). 2022 Jul 14. >>PubMed-Link<<

Alisa Förster, Melanie Decker, Brigitte Schlegelberger, Tim Ripperger
8. July 2022 (TreatHSP.net)
SARS-CoV-2, COVID-19 and Neurodegeneration

Brain Sci. 2022 Jul 8. >>PubMed-Link<<

Lars Tönges, Stephan Klebe
7. July 2022 (CONNECT-GENERATE)
Structural mechanisms of GABA A receptor autoimmune encephalitis

Cell. 2022 Jul 7. >>PubMed-Link<<

Colleen M Noviello, Jakob Kreye, Jinfeng Teng, Harald Prüss, Ryan E Hibbs
Details
1. July 2022 (Treat-ION)
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

EBioMedicine. 2022 Jul. >>PubMed-Link<<

Christian Malte Boßelmann, Ulrike B S Hedrich, Peter Müller, Lukas Sonnenberg, Shridhar Parthasarathy, Ingo Helbig, Holger Lerche, Nico Pfeifer
1. July 2022 (GeNeRARe)
Noonan syndrome-associated myocardial malfunctions caused by a RIT1 mutation can be partially rescued by modulating RAS/MAPK signaling in vitro

Eur J Heart Fail. 2022 Jul.

Kleemann, K., Szallies, H., Haghighi, F., Pietras, J., Busley, A., Dahlmann, J., Rubio, T., Seibertz, F., Moebius, W., Voigt, N., Zenker, M., Cyganek, L., Kutschka, I., Kensah, G.
1. July 2022 (GeNeRARe)
Electrophysiological anomalies associated with a noonan syndrome mutation in RAF1 contribute to the development of cardiac arrhythmias

Eur J Heart Fail. 2022 Jul.

Haghighi, F. F., Boehmker, L., Liutkute, A., Kleemann, K., Busley, A. V., Pietras, J. P., Seibertz, W., Rubio, T., Nourmohammadi, S., Dahlmann, J., Kutschka, I., Zenker, M., Voigt, N., Cyganek, L., Kensah, G.
1. July 2022 (STOP-FSGS)
Predicting Future Outcomes from Kidney Biopsies with MCD/FSGS Lesions: Opportunities and Limitations

J Am Soc Nephrol. 2022 Jul. >>PubMed-Link<<

Hans-Joachim Anders, Peter Boor
1. July 2022 (MyPred)
No time to die? Intrinsic apoptosis signaling in hematopoietic stem and progenitor cells and therapeutic implications

Curr Opin Hematol. 2022 Jul 1. >>PubMed-Link<<

Florian Hagenbourger, Sheila Bohler, Miriam Erlacher
1. July 2022 (NEOCYST)
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

Kidney Int Rep. 2022 Jul 1. >>PubMed-Link<<

Ramona Ajiri, Kathrin Burgmaier, Nurver Akinci, Ilse Broekaert, Anja Büscher, Ismail Dursun, Ali Duzova, Loai Akram Eid, Marc Fila, Michaela Gessner, Ibrahim Gokce, Laura Massella, Antonio Mastrangelo, Monika Miklaszewska, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Rina Rus, Lale Sever, Julia Thumfart, Lutz Thorsten Weber, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau
30. June 2022 (STOP-FSGS)
Definition, diagnosis, and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet working group on Kidney Malformations

Nephrol Dial Transplant. 2022 Jun 30. >>PubMed-Link<<

Stefan Kohl, Fred E Avni, Peter Boor, Valentina Capone, William L Clapp, Diego De Palma, Tess Harris, Laurence Heidet, Alina C Hilger, Helen Liapis, Marc Lilie, Gianantonio Manzoni, Giovanni Montini, Susanna Negrisolo, Marie-Jeanne Pierrat, Ann Raes, Heiko Reutter, Michiel F Schreuder, Stefanie Weber, Paul J D Winyard, Adrian S Woolf, Franz Schaefer, Max C Liebau

joint publication NEOCYST/STOP-FSGS
30. June 2022 (NEOCYST)
Definition, diagnosis, and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet working group on Kidney Malformations

Nephrol Dial Transplant. 2022 Jun 30. >>PubMed-Link<<

Stefan Kohl, Fred E Avni, Peter Boor, Valentina Capone, William L Clapp, Diego De Palma, Tess Harris, Laurence Heidet, Alina C Hilger, Helen Liapis, Marc Lilie, Gianantonio Manzoni, Giovanni Montini, Susanna Negrisolo, Marie-Jeanne Pierrat, Ann Raes, Heiko Reutter, Michiel F Schreuder, Stefanie Weber, Paul J D Winyard, Adrian S Woolf, Franz Schaefer, Max C Liebau

joint publication NEOCYST/STOP-FSGS
29. June 2022 (GeNeRARe)
Bassoon controls synaptic vesicle release via regulation of presynaptic phosphorylation and cAMP

EMBO Rep. 2022 Jun 29. >>PubMed-Link<<

Carolina Montenegro-Venegas, Debarpan Guhathakurta, Eneko Pina-Fernandez, Maria Andres-Alonso, Florian Plattner, Eckart D Gundelfinger, Anna Fejtova
29. June 2022 (GeNeRARe)
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

Eur J Hum Genet. 2022 Jun 29. >>PubMed-Link<<

Suzanna Lindsey-Temple, Matt Edwards, Verena Rickassel, Theresa Nauth, Georg Rosenberger
21. June 2022 (GAIN)
STAT3-confusion-of-function: Beyond the loss and gain dualism

J Allergy Clin Immunol. 2022 Jun 21. >>PubMed-Link<<

Lorenzo Lodi, Laura Eva Faletti, Maria Elena Maccari, Filippo Consonni, Miriam Groß, Ilaria Pagnini, Silvia Ricci, Maximilian Heeg, Gabriele Simonini, Chiara Azzari, Stephan Ehl
18. June 2022 (Treat-ION)
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

Epilepsia. 2022 Jun 18. >>PubMed-Link<<

Juliet K Knowles, Ingo Helbig, Cameron S Metcalf, Laura S Lubbers, Lori L Isom, Scott Demarest, Ethan M Goldberg, Alfred L George Jr, Holger Lerche, Sarah Weckhuysen, Vicky Whittemore, Samuel F Berkovic, Daniel H Lowenstein
18. June 2022 (GAIN)
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations

Iran J Allergy Asthma Immunol. 2022 Jun 18. >>PubMed-Link<<

Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa Moin
14. June 2022 (MitoNet)
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND ): Time to Move Beyond the Skin

Mov Disord. 2022 Jun 14. >>PubMed-Link<<

Isabell Cordts, Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop, Peter Koertvelyessy, Saskia Biskup, Stephan Forchhammer, Johannes Binder, Andreas Tzschach, Frank Meiss, Axel Schmidt, Martina Kreiß, Kirsten Cremer, Martin A Mensah, Joohyun Park, Maren Rautenberg, Natalie Deininger, Marc Sturm, Paul Lingor, Thomas Klopstock, Markus Weiler, Franz Marxreiter, Matthis Synofzik, Christian Posch, Judith Sirokay, Thomas Klockgether, Tobias B Haack, Marcus Deschauer
8. June 2022 (STOP-FSGS)
What We Have Learned so far From Single Cell Sequencing in Acute Kidney Injury

Front Physiol. 2022 Jun 8. >>PubMed-Link<<

Marc Buse, Marcus J Moeller, Eleni Stamellou
6. June 2022 (TreatHSP.net)
Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia: A Cross-Sectional Multicenter Clinical Study

Neurology. 2022 Jun 6. >>PubMed-Link<<

Martin Regensburger, Imke Tabea Spatz, Malte Ollenschläger, Christine F Martindale, Philipp Lindeburg, Zacharias Kohl, Björn Eskofier, Jochen Klucken, Rebecca Schüle, Stephan Klebe, Jürgen Winkler, Heiko Gaßner
6. June 2022 (TreatHSP.net)
Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia: A Cross-Sectional Multicenter Clinical Study

Neurology. 2022 Jun 6. >>PubMed-Link<<

Martin Regensburger, Imke Tabea Spatz, Malte Ollenschläger, Christine F Martindale, Philipp Lindeburg, Zacharias Kohl, Björn Eskofier, Jochen Klucken, Rebecca Schüle, Stephan Klebe, Jürgen Winkler, Heiko Gaßner
1. June 2022 (STOP-FSGS)
The calcium-sensing receptor stabilizes podocyte function in proteinuric humans and mice

Kidney Int. 2022 Jun. >>PubMed-Link<<

Anne K Mühlig, Johanna Steingröver, Hannah S Heidelbach, Madelaine Wingerath, Wiebke Sachs, Irm Hermans-Borgmeyer, Catherine Meyer-Schwesinger, Hoon Young Choi, Beom Jin Lim, Christian Patry, Georg Friedrich Hoffmann, Nicole Endlich, Katharina Bracke, Mariella Weiß, Andreas H Guse, Moritz Lassé, Markus M Rinschen, Fabian Braun, Tobias B Huber, Victor G Puelles, Claus Peter Schmitt, Jun Oh
1. June 2022 (MyPred)
Stayin’ alive: BCL-2 proteins in the hematopoietic system

Exp Hematol. 2022 Jun. >>PubMed-Link<<

Patricia M A Zehnle, Ying Wu, Henrike Pommerening, Miriam Erlacher
1. June 2022 (MitoNet)
How many molecules of mitochondrial complex I are in a cell?

Anal Biochem. 2022 Jun 1. >>PubMed-Link<<

Fariha Ansari, Belem Yoval, Zoya Niatsetskaya, Vadim Ten, Ilka Wittig, Alexander Galkin
29. May 2022 (MitoNet)
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

Hum Mutat. 2022 May 29. >>PubMed-Link<<

Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, Riccardo Berutti, Holger Prokisch
26. May 2022 (Treat-ION)
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Clin Genet. 2022 May 26. >>PubMed-Link<<

Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D’Haenens, E., Doco-Fenzy, M., Geßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio F. C., Gomez-Puertas, P., Møller, R. S., Tümer, Z.
25. May 2022 (NEOCYST)
Crosstalk between cilia and autophagy: implication for human diseases

Autophagy. 2022 May 25. >>PubMed-Link<<

Manuela Morleo, Helena L A Vieira, Petra Pennekamp, Alessandro Palma, Liliana Bento-Lopes, Heymut Omran, Susana S Lopes, Duarte C Barral, Brunella Franco
24. May 2022 (GeNeRARe)
Real-Time Optical Mapping of Contracting Cardiac Tissues With GPU-Accelerated Numerical Motion Tracking

Front Cardiovasc Med. 2022 May 24. >>PubMed-Link<<

Jan Lebert, Namita Ravi, George Kensah, Jan Christoph
20. May 2022 (TreatHSP.net)
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators

Exp Neurol. 2022 May 20. >>PubMed-Link<<

Michaela Hörner, Janos Groh, Dennis Klein, Winfried Ilg, Ludger Schöls, Sara Dos Santos, Anna Bergmann, Stephan Klebe, Margaux Cauhape, Julien Branchu, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios, Rudolf Martini
20. May 2022 (TreatHSP.net)
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene

Neurol Genet. 2022 May 20. >>PubMed-Link<<

Tsepo Goerttler, Letizia Zanetti, Maria Regoni, Karl Egger, Elias Kellner, Cornelius Deuschl, Christoph Kleinschnitz, Jenny Sassone, Stephan Klebe
20. May 2022 (STOP-FSGS)
ScoMorphoFISH: A deep learning enabled toolbox for single-cell single-mRNA quantification and correlative (ultra-)morphometry

J Cell Mol Med. 2022 May 20. >>PubMed-Link<<

Florian Siegerist, Eleonora Hay, Juan Saydou Dikou, Marion Pollheimer, Anja Büscher, Jun Oh, Silvia Ribback, Uwe Zimmermann, Jan Hinrich Bräsen, Olivia Lenoir, Vedran Drenic, Kathrin Eller, Pierre-Louis Tharaux, Nicole Endlich
18. May 2022 (GeNeRARe)
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations

Eur J Med Genet. 2022 May; Epub 2022 Mar 26. >>PubMed-Link<<

Claudia Schuart, Andrea Bassi, Friedrich Kapp, Ilse Wieland, Angelica Pagliazzi, Heike Losch, Carlo Mazzatenta, Giacomo M Bacci, Teresa Oranges, Denny Schanze, Klaus Mohnik9, Arti Nanda, Judith Fischer, Martin Zenker, Rudolf Happle
17. May 2022 (Treat-ION)
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Neurology. 2022 May 17. >>PubMed-Link<<

Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger, Ulrike B S Hedrich, Paul B Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, Russell J Buono, Ben Zeev Bruria, Michael G Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S Papacostas, Francesca Ragona, Tiziana Granata, Phillip S Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber
17. May 2022 (TreatHSP.net)
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1

Neurology. 2022 May 17. >>PubMed-Link<<

Carlo Wilke et al.
16. May 2022 (GAIN)
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains

J Clin Immunol. 2022 Apr 29. >>PubMed-Link<<

Rensheng Wan, Maximilian Schieck, Andrés Caballero-Oteyza, Winfried Hofmann, Alexis Virgil Cochino, Anna Shcherbina, Roya Sherkat, Clarisse Wache-Mainier, Anita Fernandez, Marc Sultan, Thomas Illig, Bodo Grimbacher, Michele Proietti, Doris Steinemann
16. May 2022 (STOP-FSGS)
The ShGlom Assay Combines High-Throughput Drug Screening With Downstream Analyses and Reveals the Protective Role of Vitamin D3 and Calcipotriol on Podocytes

Front Cell Dev Biol. 2022 May 16. >>PubMed-Link<<

Marie-Christin Ristov, Tim Lange, Nadine Artelt, Neetika Nath, Andreas W Kuss, Jochen Gehrig, Maja Lindenmeyer, Clemens D Cohen, Sheraz Gul, Karlhans Endlich, Uwe Völker, Nicole Endlich
5. May 2022 (NEOCYST)
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

Am J Hum Genet. 2022 Apr 5. >>PubMed-Link<<

John Devane, Elisabeth Ott, Eric G Olinger, Daniel Epting, Eva Decker, Anja Friedrich, Nadine Bachmann, Gina Renschler, Tobias Eisenberger, Andrea Briem-Richter, Enke Freya Grabhorn, Laura Powell, Ian J Wilson, Sarah J Rice, Colin G Miles, Katrina Wood, Genomics England Research Consortium; Palak Trivedi, Gideon Hirschfield, Andrea Pietrobattista, Elizabeth Wohler, Anya Mezina, Nara Sobreira, Emanuele Agolini, Giuseppe Maggiore, Mareike Dahmer-Heath, Ali Yilmaz, Melanie Boerries, Patrick Metzger, Christoph Schell, Inga Grünewald, Martin Konrad, Jens König, Bernhard Schlevogt, John A Sayer, Carsten Bergmann
5. May 2022 (HiChol)
Ileal Bile Acid Transporter Inhibition Reduces Post-Transplant Diarrhea and Growth Failure in FIC1 Disease-A Case Report

Children (Basel). 2022 May 5. >>PubMed-Link<<

Johanna Ohlendorf, Imeke Goldschmidt, Norman Junge, Tobias Laue, Hamoud Nasser, Elmar Jäckel, Frauke Mutschler, Eva-Doreen Pfister, Diran Herebian, Verena Keitel, Ulrich Baumann
5. May 2022 (NEOCYST)
Potential Therapeutic Effects of Long-Term Stem Cell Administration: Impact on the Gene Profile and Kidney Function of PKD/Mhm (Cy/ plus ) Rats

J Clin Med. 2022 May 5. >>PubMed-Link<<

Daniela Nardozi, Stefania Palumbo, Arif Ul Maula Khan, Carsten Sticht, Karen Bieback, Samar Sadeghi, Mark Andreas Kluth, Michael Keese, Norbert Gretz
4. May 2022 (CONNECT-GENERATE)
Key benefits of dexamethasone and antibody treatment in COVID-19 hamster models revealed by single-cell transcriptomics

Mol Ther. 2022 May 4. >>PubMed-Link<<

Emanuel Wyler, Julia M Adler, Kathrin Eschke, G Teixeira Alves, Stefan Peidli, Fabian Pott, Julia Kazmierski, Laura Michalick, Olivia Kershaw, Judith Bushe, Sandro Andreotti, Peter Pennitz, Azza Abdelgawad, Dylan Postmus, Christine Goffinet, Jakob Kreye, S Momsen Reincke, Harald Prüss, Nils Blüthgen, Achim D Gruber, Wolfgang M Kuebler, Martin Witzenrath, Markus Landthaler, Geraldine Nouailles, Jakob Trimpert
4. May 2022 (STOP-FSGS)
Benchmarking weakly-supervised deep learning pipelines for whole slide classification in computational pathology

Med Image Anal. 2022 Jul. Epub 2022 May 4. >>PubMed-Link<<

Narmin Ghaffari Laleh, Hannah Sophie Muti, Chiara Maria Lavinia Loeffler, Amelie Echle, Oliver Lester Saldanha, Faisal Mahmood, Ming Y Lu, Christian Trautwein, Rupert Langer, Bastian Dislich, Roman D Buelow, Heike Irmgard Grabsch, Hermann Brenner, Jenny Chang-Claude, Elizabeth Alwers, Titus J Brinker, Firas Khader, Daniel Truhn, Nadine T Gaisa, Peter Boor, Michael Hoffmeister, Volkmar Schulz, Jakob Nikolas Kather
2. May 2022 (NEOCYST, STOP-FSGS)
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

J Clin Invest. 2022 May 2. >>PubMed-Link<<

Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-Mao Hu, Sulaiman M Alsulaiman, Arif O Khan, Maik Grohmann, Timo Wagner, Janina Müller-Deile, Hartmut Schlüter, Victor G Puelles, Carsten Bergmann, Tobias B Huber, Florian Grahammer
Details
1. May 2022 (NEOCYST)
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Kidney Int. 2022 May. >>PubMed-Link<<

Johannes Münch, Marie Engesser, Ria Schönauer, J Austin Hamm, Christin Hartig, Elena Hantmann, Gulsen Akay, Davut Pehlivan, Tadahiro Mitani, Zeynep Coban Akdemir, Beyhan Tüysüz, Toshihiko Shirakawa, Sumito Dateki, Laura R Claus, Albertien M van Eerde, Genomics England Research Consortium; Thomas Smol, Louise Devisme, Hélène Franquet, Tania Attié-Bitach, Timo Wagner, Carsten Bergmann, Anne Kathrin Höhn, Shirlee Shril, Ari Pollack, Tara Wenger, Abbey A Scott, Sarah Paolucci, Jillian Buchan, George C Gabriel, Jennifer E Posey, James R Lupski, Florence Petit, Andrew A McCarthy, Gregory J Pazour, Cecilia W Lo, Bernt Popp, Jan Halbritter
1. May 2022 (STOP-FSGS)
The potential of artificial intelligence-based applications in kidney pathology

Curr Opin Nephrol Hypertens. 2022 May 1. >>PubMed-Link<<

Roman D Büllow, Jon N Marsh, S Joshua Swamidass, Joseph P Gaut, Peter Boor
1. May 2022 (MitoNet)
Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart

Redox Biol. 2022 May. >>PubMed-Link<<

Belem Yoval-Sánchez, Fariha Ansari, Joel James, Zoya Niatsetskaya, Sergey Sosunov, Peter Filipenko, Irina G Tikhonova, Vadim Ten, Ilka Wittig, Ruslan Rafikov, Alexander Galkin
20. April 2022 (TreatHSP.net)
Efficient and Easy Conversion of Human iPSCs into Functional Induced Microglia-like Cells

Int J Mol Sci. 2022 Apr 20. >>PubMed-Link<<

Jonas Lanfer, Johanna Kaindl, Laura Krumm, Miguel Gonzalez Acera, Markus Neurath, Martin Regensburger, Florian Krach, Beate Winner
20. April 2022 (HiChol)
FOXA2 prevents hyperbilirubinaemia in acute liver failure by maintaining apical MRP2 expression

Gut. 2022 Apr 20. >>PubMed-Link<<

Sai Wang, Rilu Feng, Shan Shan Wang, Hui Liu, Chen Shao, Yujia Li, Frederik Link, Stefan Munker, Roman Liebe, Christoph Meyer, Elke Burgermeister, Matthias Ebert, Steven Dooley, Huiguo Ding, Honglei Weng
13. April 2022 (CONNECT-GENERATE)
Patient-Derived Anti-NMDAR Antibody Disinhibits Cortical Neuronal Networks through Dysfunction of Inhibitory Neuron Output

J Neurosci. 2022 Apr 13. >>PubMed-Link<<

Ewa Andrzejak, Eshed Rabinovitch, Jakob Kreye, Harald Prüss, Christian Rosenmund, Noam E Ziv, Craig C Garner, Frauke Ackermann
5. April 2022 (MitoNet)
Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Genome Med. 2022 Apr 5. >>PubMed-Link<<

Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J Hayflick, Maja Hempel, Yulia S Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L Stenton, Tim M Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W Taylor, Saskia B Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Details
1. April 2022 (STOP-FSGS)
Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier

Kidney Int. 2022 Apr. >>PubMed-Link<<

Sybille Koehler, Johanna Odenthal, Vivian Ludwig, David Unnersjö Jess, Martin Höhne, Christian Jüngst, Ferdi Grawe, Martin Helmstädter, Johanna L Janku, Carsten Bergmann, Peter F Hoyer, H Henning Hagmann, Gerd Walz, Wilhelm Bloch, Carien Niessen, Bernhard Schermer, Andreas Wodarz, Barry Denholm, Thomas Benzing, Sandra Iden, Paul T Brinkkoetter
1. April 2022 (TreatHSP.net)
Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4

Stem Cell Res. 2022 Apr. >>PubMed-Link<<

M Korneck, L Wiora, L Schöls, S Hauser
1. April 2022 (STOP-FSGS)
Pathogenesis of vaccine-induced immune thrombotic thrombocytopenia (VITT)

Semin Hematol. 2022 Apr. >>PubMed-Link<<

Andreas Greinacher, Linda Schönborn, Florian Siegerist, Leif Steil, Raghavendra Palankar, Stefan Handtke, Alexander Reder, Thomas Thiele, Konstanze Aurich, Karen Methling, Michael Lalk, Uwe Völker, Nicole Endlich
31. March 2022 (GAIN)
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

Blood. 2022 Mar 31. >>PubMed-Link<<

Michael H Albert, Mary A Slatter, Andrew R Gennery, Tayfun Güngör, Katerina Bakunina, Benyamin Markovitch, Sheree Hazelaar, Tiarlan Sirait, Virginie Courteille, Alessandro Aiuti, Olga V Aleinikova, Dmitry Balashov, Maria Ester Bernardo, Ivana Bodova, Benedicte Bruno, Marina Cavazzana, Robert Chiesa, Alain Fischer, Fabian Hauck, Marianne Ifversen, Krzysztof Kałwak, Christoph Klein, Alexander Kulagin, Alphan Kupesiz, Baris Kuskonmaz, Caroline A Lindemans, Franco Locatelli, Su Han Lum, Alexey Maschan, Roland Meisel, Despina Moshous, Fulvio Porta, Martin G Sauer, Petr Sedlacek, Ansgar Schulz, Felipe Suarez, Tanja C Vallée, Jacek H Winiarski, Marco Zecca, Bénédicte Neven, Paul Veys, Arjan C Lankester
30. March 2022 (STOP-FSGS)
BECLIN1 Is Essential for Podocyte Secretory Pathways Mediating VEGF Secretion and Podocyte-Endothelial Crosstalk

Int J Mol Sci. 2022 Mar 30. >>PubMed-Link<<

Tillmann Bork, Wei Liang, Oliver Kretz, Simon Lagies, Kosuke Yamahara, Camila Hernando-Erhard, Martin Helmstädter, Christoph Schell, Bernd Kammerer, Tobias B Huber
28. March 2022 (CONNECT-GENERATE)
A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

Barin. 2022 Mar 28. >>PubMed-Link<<

Christine Strippel, Marisol Herrera-Rivero, Mareike Wendorff, Anja K Tietz, Frauke Degenhardt, Anika Witten, Christina Schroeter, Christopher Nelke, Kristin S Golombeck, Marie Madlener, Theodor Rüber, Leon Ernst, Attila Racz, Tobias Baumgartner, Guido Widman, Kathrin Doppler, Franziska Thaler, Kai Siebenbrodt, Andre Dik, Constanze Kerin, Saskia Räuber, Marco Gallus, Stjepana Kovac, Oliver M Grauer, Alexander Grimm, Harald Prüss, Jonathan Wickel, Christian Geis, Jan Lewerenz, Norbert Goebels, Marius Ringelstein, Til Menge, Björn Tackenberg, Christoph Kellinghaus, Christian G Bien, Andrea Kraft, Uwe Zettl, Fatme Seval Ismail, Ilya Ayzenberg, Christian Urbanek, Kurt-Wolfram Sühs, Simone C Tauber, Sigrid Mues, Peter Körtvélyessy, Robert Markewitz, Asterios Paliantonis, Christian E Elger, Rainer Surges, Claudia Sommer, Tania Kümpfel, Catharina C Gross, Holger Lerche, Jörg Wellmer, Carlos M Quesada, Florian Then Bergh, Klaus-Peter Wandinger, Albert J Becker, Wolfram S Kunz, Gerd Meyer Zu Hörste, Michael P Malter, Felix Rosenow, Heinz Wiendl, Gregor Kuhlenbäumer, Frank Leypoldt, Wolfgang Lieb, Andre Franke, Sven G Meuth, Monika Stoll, Nico Melzer, German Network for Research on Autoimmune Encephalitis (GENERATE)
28. March 2022 (CONNECT-GENERATE)
GABA A Receptor Autoantibodies Decrease GABAergic Synaptic Transmission in the Hippocampal CA3 Network

Int J Mol Sci. 2022 Mar 28. >>PubMed-Link<<

Amélie F Menke, Fatme Seval Ismail, Klaus Dornmair, Manuela Cerina, Sven G Meuth, Nico Melzer
28. March 2022 (MyPred)
The Cytogenetic Landscape of Pediatric Chronic Myeloid Leukemia Diagnosed in Chronic Phase

Cancers (Basel). 2022 Mar 28. >>PubMed-Link<<

Axel Karow, Gudrun Göhring, Stephanie Sembill, Friederike Lutterloh, Fina Neuhaus, Sara Callies, Elke Schirmer, Zofia Wotschofsky, Oisin Roche-Lancaster, Meinolf Suttorp, Manuela Krumbholz, Markus Metzler
28. March 2022 (TreatHSP.net)
SARS-CoV-2, COVID-19 and Parkinson’s Disease-Many Issues Need to Be Clarified-A Critical Review

Brain Sci. 2022 Mar 28. >>PubMed-Link<<

Tsepo Goerttler, Eun-Hae Kwon, Michael Fleischer, Mark Stettner, Lars Tönges, Stephan Klebe
26. March 2022 (GeNeRARe)
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Hum Mol Genet. 2022 Mar 26. >>PubMed-Link<<

Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Thomas-Teinturier, Anne Guimier, Viviana Cordeddu, Laura Mazzanti, Giuseppe Zampino, Giovanni Chillemi, Martin Zenker, Hélène Cavé, Jeroen Hertog, Marco Tartaglia
25. March 2022 (GAIN)
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation

Sci Immunol. 2022 Mar 25. >>PubMed-Link<<

Akihiro Hoshino, David Boutboul, Yuan Zhang, Hye Sun Kuehn, Jerôme Hadjadj, Nihal Özdemir, Tiraje Celkan, Christoph Walz, Capucine Picard, Christelle Lenoir, Nizar Mahlaoui, Christoph Klein, Xiao Peng, Antoine Azar, Erin Reigh, Morgane Cheminant, Alain Fischer, Frédéric Rieux-Laucat, Isabelle Callebaut, Fabian Hauck, Joshua Milner, Sergio D Rosenzweig, Sylvain Latour
22. March 2022 (GeNeRARe)
The glucocorticoid receptor associates with RAS complexes to inhibit cell proliferation and tumor growth

Sci Signal. 2022 Mar 22. >>PubMed-Link<<

Bozhena Caratti, Miray Fidan, Giorgio Caratti, Kristina Breitenecker, Melanie Engler, Naser Kazemitash, Rebecca Traut, Rainer Wittig, Emilio Casanova, Mohammad Reza Ahmadian, Jan P Tuckermann, Herwig P Moll, Ion Cristian Cirstea
Details
9. March 2022 (NEOCYST)
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Orphanet J Rare Dis. 2022 Mar 9. >>PubMed-Link<<

Wolfgang H Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner
8. March 2022 (CONNECT-GENERATE)
Clinical, serological and genetic predictors of response to immunotherapy in anti-IgLON5 disease

Brain. 2022 Mar 8. >>PubMed-Link<<

Thomas Grüter, Franziska E Möllers, Anja Tietz, Justina Dargvainiene, Nico Melzer, Anna Heidbreder, Christine Strippel, Andrea Kraft, Romana Höftberger, Florian Schöberl, Franziska S Thaler, Jonathan Wickel, Ha-Yeun Chung, Frank Seifert, Marlene Tschernatsch, Michael Nagel, Jan Lewerenz, Sven Jarius, Brigitte C Wildemann, Lucie de Azevedo, Fedor Heidenreich, Raphaela Heusgen, Ulrich Hofstadt-van Oy, Andreas Linsa, Jannis Justus Maaß, Til Menge, Marius Ringelstein, David J Pedrosa, Josef Schill, Thomas Seifert-Held, Caspar Seitz, Silke Tonner, Christian Urbanek, Simone Zittel, Robert Markewitz, Mirjam Korporal-Kuhnke, Thomas Schmitter, Carsten Finke, Norbert Brüggemann, Corinna I Bien, Ingo Kleiter, Ralf Gold, Klaus-Peter Wandinger, Gregor Kuhlenbäumer, Frank Leypoldt, Ilya Ayzenberg, German Network for Research on Autoimmune Encephalitis (GENERATE)
1. March 2022 (HiChol)
Acute cholestatic liver injury following carbimazole treatment in a patient with VPS33B haploinsufficiency

Clin Res Hepatol Gastroenterol. 2022 Mar. >>PubMed-Link<<

Thomas Adams, Roman Liebe, Johannes Lehmann, Marcin Krawczyk, Frank Lammert
1. March 2022 (Treat-ION)
Reply to: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China

Bain. 2022 Mar 1. >>PubMed-Link<<

Katrine M Johannesen, Yuanyuan Liu, Elena Gardella, Holger Lerch, Rikke S Møller
21. February 2022 (MitoNet)
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery

Br J Ophthalmol. 2022 Feb 21. >>PubMed-Link<<

Jakob Siedlecki, Susanna Koenig, Claudia Catarino, Markus M Schaumberger, Benedikt Schworm, Siegfried Georg Priglinger, Guenther Rudolph, Bettina von Livonius, Thomas Klopstock, Claudia S Priglinger
20. February 2022 (HiChol)
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: presentation of a case series and literature review

Liver Int. 2022 Feb 20. >>PubMed-Link<<

Eva-Doreen Pfister, Carola Dröge, Roman Liebe, Amelie Stalke, Nicole Buhl, Antje Ballauff, Tobias Cantz, Eva Bueltmann, Jan Stindt, Tom Luedde, Ulrich Baumann, Verena Keitel
18. February 2022 (CONNECT-GENERATE)
SARS-CoV-2 Beta variant infection elicits potent lineage-specific and cross-reactive antibodies

Science. 2022 Feb 18. >>PubMed-Link<<

S Momsen Reincke, Meng Yuan, Hans-Christian Kornau, Victor M Corman, Scott van Hoof, Elisa Sánchez-Sendin, Melanie Ramberger, Wenli Yu, Yuanzi Hua, Henry Tien, Marie Luisa Schmidt, Tatjana Schwarz, Lara Maria Jeworowski, Sarah E Brandl, Helle Foverskov Rasmussen, Marie A Homeyer, Laura Stöffler, Martin Barner, Désirée Kunkel, Shufan Huo, Johannes Horler, Niels von Wardenburg, Inge Kroidl, Tabea M Eser, Andreas Wieser, Christof Geldmacher, Michael Hoelscher, Hannes Gänzer, Günter Weiss, Dietmar Schmitz, Christian Drosten, Harald Prüss, Ian A Wilson, Jakob Kreye
Details
18. February 2022 (MitoNet)
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

Biomolecules. 2022 Feb 18. >>PubMed-Link<<

Maike Werning, Verena Dobretzberger, Martin Brenne, Ernst W Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M Baron, Lena Fragner, Almut T Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer
17. February 2022 (MyPred)
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Blood. 2022 Feb 17. >>PubMed-Link<<

Richa Sharma, Sushree S Sahoo, Masayoshi Honda, Sophie L Granger, Charnise Goodings, Louis Sanchez, Axel Künstner, Hauke Busch, Fabian Beier, Shondra M Pruett-Miller, Marcus B Valentine, Alfonso G Fernandez, Ti-Cheng Chang, Vincent Géli, Dmitri Churikov, Sandrine Hirschi, Victor B Pastor, Melanie Boerries, Melchior Lauten, Charikleia Kelaidi, Megan A Cooper, Sarah Nicholas, Jill A Rosenfeld, Sophia Polychronopoulou, Caroline Kannengiesser, Carole Saintomé, Charlotte M Niemeyer, Patrick Revy, Marc S Wold, Maria Spies, Miriam Erlacher, Stéphane Coulon, Marcin W Wlodarski
Details
17. February 2022 (GAIN)
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency

J Allergy Clin Immunol. 2022 Feb 17. >>PubMed-Link<<

Florian Gothe, Jarmila Stremenova Spegarova, Catherine F Hatton, Helen Griffin, Thomas Sargent, Sally A Cowley, William James, Anna Roppelt, Anna Shcherbina, Fabian Hauck, Hugh T Reyburn, Christopher J A Duncan, Sophie Hambleton
17. February 2022 (GAIN)
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors

Front Immunol. 2022 Feb 17. >>PubMed-Link<<

Luzia Bruns, Victoria Panagiota, Sandra von Hardenberg, Gunnar Schmidt, Ignatius Ryan Adriawan, Eleni Sogka, Stefanie Hirsch, Gerrit Ahrenstorf, Torsten Witte, Reinhold Ernst Schmidt, Faranaz Atschekzei, Georgios Sogkas
16. February 2022 (TreatHSP.net)
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Ann Clin Transl Neurol. 2022 Feb 16. >>PubMed-Link<<

Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, Tim W Rattay, Holger Hengel, Jennifer Reichbauer, Elke Stransky, Alejandra Leyva-Gutiérrez, David Mengel, Matthis Synofzik, Ludger Schöls, Peter Martus, Rebecca Schüle
16. February 2022 (GeNeRARe)
The Pseudo-Natural Product Rhonin Targets RHOGDI

Angew Chem Int Ed Engl. 2022 Feb 16. >>PubMed-Link<<

Mohammad Akbarzadeh, Jana Flegel, Sumersing Patil, Erchang Shang, Rishikesh Narayan, Marcel Buchholzer, Neda S Kazemein Jasemi, Michael Grigalunas, Adrian Krzyzanowski, Daniel Abegg, Anton Shuster, Marco Potowski, Hacer Karatas, George Karageorgis, Niloufar Mosaddeghzadeh, Mia-Lisa Zischinsky, Christian Merten, Christopher Golz, Lucas Brieger, Carsten Strohmann, Andrey P Antonchick, Petra Janning, Alexander Adibekian, Roger S Goody, Mohammad Reza Ahmadian, Slava Ziegler, Herbert Waldmann
10. February 2022 (MitoNet)
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Brain. 2022 Feb 10. >>PubMed-Link<<

Sarah L Stenton, Marketa Tesarova, Natalia L Sheremet, Claudia Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch
6. February 2022 (NEOCYST)
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies

Hum Mol Genet. 2022 Feb 6. >>PubMed-Link<<

Daniel Epting, Eva Decker, Elisabeth Ott, Tobias Eisenberger, Ingrid Bader, Nadine Bachmann, Carsten Bergmann
3. February 2022 (STOP-FSGS)
Complement activation induces excessive T cell cytotoxicity in severe COVID-19

Cell. 2022 Feb 3. >>PubMed-Link<<

Philipp Georg, Rosario Astaburuaga-García, Lorenzo Bonaguro, Sophia Brumhard, Laura Michalick, Lena J Lippert, Tomislav Kostevc, Christiane Gäbel, Maria Schneider, Mathias Streitz, Vadim Demichev, Ioanna Gemünd, Matthias Barone, Pinkus Tober-Lau, Elisa T Helbig, David Hillus, Lev Petrov, Julia Stein, Hannah-Philine Dey, Daniela Paclik, Christina Iwert, Michael Mülleder, Simran Kaur Aulakh, Sonja Djudjaj, Roman D Bülow, Henrik E Mei, Axel R Schulz, Andreas Thiel, Stefan Hippenstiel, Antoine-Emmanuel Saliba, Roland Eils, Irina Lehmann, Marcus A Mall, Sebastian Stricker, Jobst Röhmel, Victor M Corman, Dieter Beule, Emanuel Wyler, Markus Landthaler, Benedikt Obermayer, Saskia von Stillfried, Peter Boor, Münevver Demir, Hans Wesselmann, Norbert Suttorp, Alexander Uhrig, Holger Müller-Redetzky, Jacob Nattermann, Wolfgang M Kuebler, Christian Meisel, Markus Ralser, Joachim L Schultze, Anna C Aschenbrenner, Charlotte Thibeault, Florian Kurth, Leif E Sander, Nils Blüthgen, Birgit Sawitzki, PA-COVID-19 Study Group
Details
2. February 2022 (NEOCYST)
Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing

Kidney Int Rep. 2022 Feb 2. >>PubMed-Link<<

Mira Choi, Anne Rübsam, Marten Schulz, Eva Decker, Anja Friedrich, Eva Schrezenmeier, Fabian Halleck, Kai-Uwe Eckardt, Carsten Bergmann
1. February 2022 (ADDRess)
A Summary of the Inaugural WHO Classification of Pediatric Tumors: Transitioning from the Optical into the Molecular Era

Cancer Discov. 2022 Feb. >>PubMed-Link<<

Stefan M Pfister, Miguel Reyes-Múgica, John K C Chan, Henrik Hasle, Alexander J Lazar, Sabrina Rossi, Andrea Ferrari, Jason A Jarzembowski, Kathy Pritchard-Jones, D Ashley Hill, Thomas S Jacques, Pieter Wesseling, Dolores H López Terrada, Andreas von Deimling, Christian P Kratz, Ian A Cree, Rita Alaggio
1. February 2022 (CONNECT-GENERATE)
Treating sarcoidosis-associated progressive multifocal leukoencephalopathy with infliximab

Brain Commun. 2022 Feb. >>PubMed-Link<<

Sina C Rosenkranz, Vivien Häußler, Manuela Kolster, Anne Willing, Jakob Matschke, Christoph Röcken, Klarissa Stürner, Frank Leypoldt, Eva Tolosa, Manuel A Friese
1. February 2022 (CONNECT-GENERATE)
State-dependent signatures of anti- N-methyl-d-aspartate receptor encephalitis

Brain Commun. 2022 Feb 1. >>PubMed-Link<<

Nina von Schwanenflug, Stephan Krohn, Josephine Heine, Friedemann Paul, Harald Prüss, Carsten Finke
1. February 2022 (Treat-ION)
Genetic testing before epilepsy surgery-An exploratory survey and case collection from German epilepsy centers

Seizure-European Journal of Epilepsy. 2022 Feb. Epub 2021 Dec 17. >>PubMed-Link<<

Christian Malte Boßelmann, Victoria San Antonio-Arce, Andreas Schulze-Bonhage, Susanne Fauser, Pia Zacher, Thomas Mayer, Javier Aparicio, Kristina Albers, Thomas Cloppenborg, Wolfram Kunz, Rainer Surges, Steffen Syrbe, Yvonne Weber, Stefan Wolking
28. January 2022 (GAIN)
Dysregulated PI3K Signaling in B Cells of CVID Patients

Cells. 2022 Jan 28. >>PubMed-Link<<

Ina Harder, Matthias Münchhalfen, Geoffroy Andrieux, Melanie Boerries, Bodo Grimbacher, Hermann Eibel, Maria Elena Maccari, Stephan Ehl, Jürgen Wienands, Julia Jellusova, Klaus Warnatz, Baerbel Keller
26. January 2022 (Treat-ION)
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

Dev Med Child Neurol. 2022 Jan 26. >>PubMed-Link<<

Allan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, Christian M Korff, Ashley Thomas, Christian Boßelmann, Yvonne Weber, Elena Gardella, Allan M Lund, Monique G M de Sain-van der Velden, Rikke S Møller
25. January 2022 (NEOCYST)
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Nephrol Dial Transplant. 2022 Jan 25. >>PubMed-Link<<

Nine Knoers, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S Lipska-Ziętkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas-Poussou, Franz Schaefer
24. January 2022 (TreatHSP.net)
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia

Mov Disord. 2022 Jan 24. >>PubMed-Link<<

Annika Thierfelder, Jens Seemann, Natalie John, Florian Harmuth, Martin Giese, Rebecca Schüle, Ludger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg
24. January 2022 (GAIN)
Treatment of STAT3-deficient hyper-immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammation

J Allergy Clin Immunol Pract. 2022 Jan 24. >>PubMed-Link<<

Alyssa E James, Laura West, Katheryn Schloss, Pavan Nataraj, Amanda Urban, Aleksandra Hirsch, Máté Krausz, Shashi Kumar, Jason Raasch, Kimberly Risma, Joseph A Church, Bodo Grimbacher, Jenna R E Bergerson, Hey Chong, Alexandra F Freeman
20. January 2022 (MitoNet)
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Annals of Neurology. 2022 Feb. Epub 2022 Jan 20. >>PubMed-Link<<

Michael Zech, Robert Kopajtich, Katja Steinbrücker, Céline Bris, Naig Gueguen, René G Feichtinger, Melanie T Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J T Rodenburg, Lynn S Pais, Christina Austin-Tse, Melanie O’Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B Wortmann, Matthias Eckenweiler, Johannes A Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelman, Holger Prokisch
19. January 2022 (CONNECT-GENERATE)
Clinical manifestations and immunomodulatory treatment experiences in psychiatric patients with suspected autoimmune encephalitis: a case series of 91 patients from Germany

Molecular psychiatry. 2022 Jan 19. >>PubMed-Link<<

Dominique Endres, Eva Lüngen, Alkomiet Hasan, Michael Kluge, Sabrina Fröhlich, Jan Lewerenz, Tom Bschor, Ida Sibylle Haußleiter, Georg Juckel, Florian Then Bergh, Barbara Ettrich, Lisa Kertzscher, Tatiana Oviedo-Salcedo, Robert Handreka, Martin Lauer, Klaas Winter, Norbert Zumdick, Anna Drews, Jost Obrocki, Yavor Yalachkov, Anna Bubl, Felix von Podewils, Udo Schneider, Kristina Szabo, Margarete Mattern, Alexandra Philipsen, Katharina Domschke, Klaus-Peter Wandinger, Alexandra Neyazi, Oliver Stich, Harald Prüss, Frank Leypoldt, Ludger Tebartz van Elst
Details
13. January 2022 (MyPred)
Validation and clinical application of transactivation assays for RUNX1 variant classification

Blood Adv. 2022 Jan 13. >>PubMed-Link<<

Melanie Decker, Anupriya Agarwal, Andreas Benneche, Jane E Churpek, Nicolas Duployez, Adam DuVall, Martijn P T Ernst, Alisa Förster, Hildegunn Høberg Vetti, Michelle Nash, Marc H G P Raaijmakers, Tor Henrik Anderson Tvedt, Adrianna Vlachos, Brigitte Schlegelberger, Thomas Illig, Tim Ripperger
11. January 2022 (GAIN)
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders

J Clin Immunol. 2022 Jan 11. >>PubMed-Link<<

Johannes M Sperlich, Bodo Grimbacher, Veronika Soetedjo, Sarita Workman, Siobhan O Burns, David M Lowe, John R Hurst
6. January 2022 (MitoNet)
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Human Mutation. 2022 Jan 6. >>PubMed-Link<<

Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G Karimiani, Yilmaz Yildiz, Ahmet C Ceylan, Teresa Santiago-Sim, Amy Dameron, Hui Yang, Mehran B Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A Al-Muhaizea, Meznah O Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H Alwadei, Maha M AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A Lines, M Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P Ferla, Jenny C Taylor, Hessa S Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt-Mechelke, Andreas Ziegler, Mahmoud Y Issa, Hasnaa M Elbendary, Pasquale Striano, Fowzan S Alkuraya, Maha S Zaki, Joseph G Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S van der Knaap, Reza Maroofian, Henry Houlden
6. January 2022 (Treat-ION)
Cellular Physiology and Pathophysiology of EAAT Anion Channels

Front Cell Nerurosci. 2022 Jan 6. >>PubMed-Link<<

Peter Kovermann, Miriam Engels, Frank Müller, Christoph Fahlke
1. January 2022 (GAIN)
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

Clin Immunol. 2022 Jan. >>PubMed-Link<<

Chantal E Hargreaves, Fatima Dhalla, Arzoo M Patel, Andrés Caballero Garcia de Oteyza, Elizabeth Bateman, Joanne Miller, Consuelo Anzilotti, Lisa Ayers, Bodo Grimbacher, Smita Y Patel
1. January 2022 (ADDRess)
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis

Acta Neuropathol. 2021 Jan. >>PubMed-Link<<

Abigail K Suwala, Damian Stichel, Daniel Schrimpf, Matthias Kloor, Annika K Wefers, Annekathrin Reinhardt, Sybren L N Maas, Christian P Kratz, Leonille Schweizer, Martin Hasselblatt, Matija Snuderl, Malak Sameer J Abedalthagafi, Zied Abdullaev, Camelia M Monoranu, Markus Bergmann, Arnulf Pekrun, Christian Freyschlag, Eleonora Aronica, Christof M Kramm, Felix Hinz, Philipp Sievers, Andrey Korshunov, Marcel Kool, Stefan M Pfister, Dominik Sturm, David T W Jones, Wolfgang Wick, Andreas Unterberg, Christian Hartmann, Andrew Dodgshun, Uri Tabori, Pieter Wesseling, Felix Sahm, Andreas von Deimling, David E Reuss
1. January 2022 (HiChol)
KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease

J Pediatr. 2022 Jan. Epub 2021 Sep 21. >>PubMed-Link<<

Amelie Stalke, Malte Sgodda, Tobias Cantz, Britta Skawran, Elke Lainka, Björn Hartleben, Ulrich Baumann, Eva-Doreen Pfister
1. January 2022 (MitoNet)
Mitochondrial Retinopathy

Ophthalmol Retina. 2022 Jan. Epub 2021 Jul 10. >>PubMed-Link<<

Johannes Birtel, Christina von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt, Cornelia Kornblum, Peter Charbel Issa
1. January 2022 (STOP-FSGS)
Super-Resolution Imaging of the Filtration Barrier Suggests a Role for Podocin R229Q in Genetic Predisposition to Glomerular Disease

J Am Soc Nephrol. 2022 Jan. >>PubMed-Link<<

Linus Butt, David Unnersjö-Jess, Martin Höhne, Robert Hahnfeldt, Dervla Reilly, Markus M Rinschen, Ingo Plagmann, Paul Diefenhardt, Sebastian Brähler, Paul T Brinkkötter, Hjalmar Brismar, Hans Blom, Bernhard Schermer, Thomas Benzing
28. December 2021 (Treat-ION)
Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function

Epilepsia. 2021 Dec 28. >>PubMed-Link<<

Peter Kovermann, Yulia Kolobkova, Arne Franzen, Christoph Fahlke
26. December 2021 (GAIN)
The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid Tumors

Curr Oncol. 2021 Dec 26. >>PubMed-Link<<

Julian Kolorz, Salih Demir, Adrian Gottschlich, Iris Beirith, Matthias Ilmer, Daniel Lüthy, Christoph Walz, Mario M. Dorostkar, Thomas Magg, Fabian Hauck, Dietrich von Schweinitz, Sebastian Kobold, Roland Kappler, Michael Berger
24. December 2021 (GAIN)
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1

Front Immunol. 2021 Dec 24. >>PubMed-Link<<

Manfred Anim, Georgios Sogkas, Gunnar Schmidt, Natalia Dubrowinskaja, Torsten Witte, Reinhold Ernst Schmidt, Faranaz Atschekzei
24. December 2021 (MyPred)
Efficient In Vitro Generation of IL-22-Secreting ILC3 From CD34+ Hematopoietic Progenitors in a Human Mesenchymal Stem Cell Niche

Front Immunol. 2021 Dec 24. >>PubMed-Link<<

Sabrina B Bennstein, Sandra Weinhold, Özer Degistirici, Robert A J Oostendorp, Katharina Raba, Gesine Kögler, Roland Meisel, Lutz Walter, Markus Uhrberg
20. December 2021 (GAIN)
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity

Front Immunol. 2021 Dec 20. >>PubMed-Link<<

Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-Hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K Bayer, Lenora M Noroski, Michael T Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H Albert, Roshini S Abraham, Hemalatha G Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K Meyer, Amy Theos, T Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, Kathleen E Sullivan
17. December 2021 (GAIN)
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

Front Immunol. 2021 Dec 17. >>PubMed-Link<<

Jessica Rojas-Restrepo , Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher
14. December 2021 (GAIN)
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

J Allergy Clin Immunol. 2021 Dec. >>PubMed-Link<<

Linlin Yang, Claire Booth, Carsten Speckmann, Markus G Seidel, Austen Jj Worth, Gerhard Kindle, Arjan C Lankester, Grimbacher B, ESID Clinical and Registry Working Parties; Andrew R Gennery, Mikko Rj Seppanen, Emma C Morris, Siobhan O Burns
9. December 2021 (MyPred)
Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood. 2021 Dec 9. >>PubMed-Link<<

Emilia J Kozyra, Gudrun Göhring, Dennis D Hickstein, Katherine R Calvo, Courtney D DiNardo , Michael Dworzak, Valerie de Haas, Jan Starý, Henrik Hasle, Akiko Shimamura, Mark D Fleming, Hiroto Inaba, Sara Lewis, Amy P Hsu, Steven M Holland, Danielle E Arnold, Cristina Mecucci, Siobán B Keel, Alison A Bertuch, Kiran Tawana, Shlomit Barzilai, Shinsuke Hirabayashi, Masahiro Onozawa, Shaohua Lei, Helena Alaiz, Hajnalka Andrikovics, David Betts, Berna H Beverloo, Jochen Buechner, Martin Čermák, José Cervera, Olga Haus, Kirsi Jahnukainen, Kalliopi N Manola, Karin Nebral, Francesco Pasquali, Joelle Tchinda, Dominik Turkiewicz, Nadine Van Roy, Zuzana Zemanova, Victor B Pastor, Brigitte Strahm, Peter Noellke, Charlotte M Niemeyer, Brigitte Schlegelberger, Ayami Yoshimi, Marcin W Wlodarski
2. December 2021 (ADDRess)
SIOP PNET5 MB Trial: History and Concept of a Molecularly Stratified Clinical Trial of Risk-Adapted Therapies for Standard-Risk Medulloblastoma

Cancers (Basel). 2021 Dec 2. >>PubMed-Link<<

Martin Mynarek, Till Milde, Laetitia Padovani, Geert O Janssens, Robert Kwiecien, Veronique Mosseri, Steven C Clifford, François Doz, Stefan Rutkowski
2. December 2021 (MyPred)
Guideline for management of non-Down syndrome neonates with a myeloproliferative disease on behalf of the I-BFM AML Study Group and EWOG-MDS

Haematologica. 2021 Dec 2. >>PubMed-Link<<

Eline J M Bertrums, C Michel Zwaan, Daisuke Hasegawa, Valerie De Haas, Dirk N Reinhardt, Franco Locatelli, Barbara De Moerloose, Michael Dworzak, Arjan Buijs, Petr Smisek, Alexandra Kolenova, Cornelis Jan Pronk, Jan-Henning Klusmann, Ana Carboné, Alina Ferster, Evangelia Antoniou, Soheil Meshinchi, Susana C Raimondi, Charlotte M Niemeyer, Henrik Hasle, Marry M Van den Heuvel-Eibrink, Bianca F Goemans
2. December 2021 (Treat-ION)
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Am J Hum Genet. 2021 Dec 2. >>PubMed-Link<<

Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, Reza Maroofian, Isabelle Schrauwen, Manuela Pendziwiat, Sunhee Jung, Elizabeth Bhoj, Pasquale Striano, Kshitij Mankad, Barbara Vona, Sanmati Cuddapah, Anja Wagner, Javeria Raza Alvi, Elham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Srinitya Gannavarapu, Costanza Lamperti, Andrea Legati, Bibi Nazia Murtaza, Muhammad Shahid Nadeem, Mujaddad Ur Rehman, Kolsoum Saeidi, Vincenzo Salpietro, Sarah von Spiczak, Abigail Sandoval, Sirous Zeinali, Massimo Zeviani, Adi Reich, SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Cholsoon Jang, Ingo Helbig, Tahsin Stefan Barakat, Daniele Ghezzi, Suzanne M Leal, Yvonne Weber, Henry Houlden, Wan Hee Yoon
2. December 2021 (ADDRess)
Detection of cytogenetic changes and chromosomal aneuploidy with fluorescent in situ hybridization in cytological specimens of oral cancers in Fanconi anemia-Proof of concept

Clin Exp Dent Res. 2021 Dec 2. >>PubMed-Link<<

Bruno Eduardo Silva de Araujo, Eunike Velleuer, Ralf Dietrich, Natalia Pomjanski, Isabela Karoline de Santana Almeida Araujo, Martin Schlensog, Susanne Irmtraud Wells, Josephine Christine Dorsman, Martin Schramm
1. December 2021 (CONNECT-GENERATE)
Clinical and neuroimaging findings in MOGAD-MRI and OCT

Clin Exp Immunol. 2021 Dec. >>PubMed-Link<<

Frederik Bartels, Angelo Lu, Frederike Cosima Oertel, Carsten Finke, Friedemann Paul, Claudia Chien
1. December 2021 (CONNECT-GENERATE)
Autoantibodies in neurological disease

Nat Rev Immunol. 2021 Dec. >>PubMed-Link<<

Harald Prüss
1. December 2021 (GAIN)
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapies

RMD Open. 2021 Dec. >>PubMed-Link<<

Ulf M Geisen, Melike Sümbül, Florian Tran, Dennis K Berner, Hayley M Reid, Lena Vullriede, Maria Ciripoi, Ann C Longardt, Paula Hoff, Peter J Morrison, Verena E Schneider, Rainald Zeuner, Jan H Schirmer, Andrea Steinbach, Susanna Nikolaus, S Gerdes, Stefan Schreiber, Petra Bacher, Bimba F Hoyer
1. December 2021 (GAIN)
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapies

RMD Open. 2021 Dec. >>PubMed-Link<<

Ulf M Geisen, Melike Sümbül, Florian Tran, Dennis K Berner, Hayley M Reid, Lena Vullriede, Maria Ciripoi, Ann C Longardt, Paula Hoff, Peter J Morrison, Verena E Schneider, Rainald Zeuner, Jan H Schirmer, Andrea Steinbach, Susanna Nikolaus, S Gerdes, Stefan Schreiber, Petra Bacher, Bimba F Hoyer
1. December 2021 (CONNECT-GENERATE)
Clinical and neuroimaging findings in MOGAD-MRI and OCT

Clin Exp Immunol. 2021 Dec. >>PubMed-Link<<

Frederik Bartels, Angelo Lu, Frederike Cosima Oertel, Carsten Finke, Friedemann Paul, Claudia Chien
1. December 2021 (GAIN)
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapies

RMD Open. 2021 Dec. >>PubMed-Link<<

Ulf M Geisen, Melike Sümbül, Florian Tran, Dennis K Berner, Hayley M Reid, Lena Vullriede, Maria Ciripoi, Ann C Longardt, Paula Hoff, Peter J Morrison, Verena E Schneider, Rainald Zeuner, Jan H Schirmer, Andrea Steinbach, Susanna Nikolaus, S Gerdes, Stefan Schreiber, Petra Bacher, Bimba F Hoyer
29. November 2021 (MitoNet)
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Cells. 2021 Nov 29. >>PubMed-Link<<

Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger
27. November 2021 (STOP-FSGS)
SARS-CoV-2 infection triggers profibrotic macrophage responses and lung fibrosis

Cell. 2021 Nov 27. >>PubMed-Link<<

Daniel Wendisch, Oliver Dietrich, Tommaso Mari, Saskia von Stillfried, Ignacio L Ibarra, Mirja Mittermaier, Christin Mache, Robert Lorenz Chua, Rainer Knoll, Sara Timm, Sophia Brumhard, Tobias Krammer, Henrik Zauber, Anna Luisa Hiller, Anna Pascual-Reguant, Ronja Mothes, Roman David Bülow, Jessica Schulze, Alexander M Leipold, Sonja Djudjaj, Florian Erhard, Robert Geffers, Fabian Pott, Julia Kazmierski, Josefine Radke, Panagiotis Pergantis, Kevin Baßler, Claudia Conrad, Anna C Aschenbrenner, Birgit Sawitzki, Markus Landthaler, Emanuel Wyler, David Horst, Deutsche COVID-19 OMICS Initiative (DeCOI); Stefan Hippenstiel, Andreas Hocke, Frank L Heppner, Alexander Uhrig, Carmen Garcia, Felix Machleidt, Susanne Herold, Sefer Elezkurtaj, Charlotte Thibeault, Martin Witzenrath, Clément Cochain, Norbert Suttorp, Christian Drosten, Christine Goffinet, Florian Kurth, Joachim L Schultze, Helena Radbruch, Matthias Ochs, Roland Eils, Holger Müller-Redetzky, Anja E Hauser, Malte D Luecken, Fabian J Theis, Christian Conrad, Thorsten Wolff, Peter Boor, Matthias Selbach, Antoine-Emmanuel Saliba, Leif Erik Sander
26. November 2021 (Treat-ION)
Genetic generalized epilepsies in adults – challenging assumptions and dogmas

Nat Rev Neurol. 2021 Nov 26. >>PubMed-Link<<

Bernd J Vorderwülbecke , Britta Wandschneider, Yvonne Weber, Martin Holtkamp
24. November 2021 (STOP-FSGS)
Evaluation of endogenous miRNA reference genes across different zebrafish strains, developmental stages and kidney disease models

Sci Rep. 2021 Nov 24. >>PubMed-Link<<

Florian Siegerist, Tim Lange, Anna Iervolino, Thor Magnus Koppe, Weibin Zhou, Giovambattista Capasso, Karlhans Endlich, Nicole Endlich
22. November 2021 (GeNeRARe)
Selectivity Determinants of RHO GTPase Binding to IQGAPs

Int. J. Mol. Sci. 2021 Nov 22. >>PubMed-Link<<

Niloufar Mosaddeghzadeh, Kazem Nouri, Oliver H F Krumbach, Ehsan Amin, Radovan Dvorsky, Mohammad R Ahmadian
21. November 2021 (HiChol)
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Genes. 2021 Nov 21. >>PubMed-Link<<
Rebecca Jeyaraj, Kirsten McKay Bounford, Nicola Ruth, Carla Lloyd, Fiona MacDonald, Christian J Hendriksz, Ulrich Baumann, Paul Gissen, Deirdre Kelly
19. November 2021 (GeNeRARe)
Electrostatic Forces Mediate the Specificity of RHO GTPase-GDI Interactions

Int J Mol Sci. 2021 Nov 19. >>PubMed-Link<<

Niloufar Mosaddeghzadeh, Neda S Kazemein Jasemi, Jisca Majolée, Si-Cai Zhang, Peter L Hordijk, Radovan Dvorsky, Mohammad Reza Ahmadian
19. November 2021 (GAIN)
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity

J Clin Immunol. 2021 Nov 19. >>PubMed-Link<<

Markus G Seidel, Victoria K Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch
15. November 2021 (STOP-FSGS)
Deep learning-based classification of kidney transplant pathology: a retrospective, multicentre, proof-of-concept study

Lancet Digit Health. 2021 Nov 15. >>PubMed-Link<<

Jesper Kers, Roman D Bülow, Barbara M Klinkhammer, Gerben E Breimer, Francesco Fontana, Adeyemi Adefidipe Abiola, Rianne Hofstraat, Garry L Corthals, Hessel Peters-Sengers, Sonja Djudjaj, Saskia von Stillfried, David L Hölscher, Tobias T Pieters, Arjan D van Zuilen, Frederike J Bemelman, Azam S Nurmohamed, Maarten Naesens, Joris J T H Roelofs, Sandrine Florquin, Jürgen Floege, Tri Q Nguyen, Jakob N Kather, Peter Boor
12. November 2021 (HiChol)
A selectable all-in-one CRISPR prime editing piggyBac transposon allows for highly efficient gene editing in human cell lines

Sci Rep. 2021 Nov 12. >>PubMed-Link<<

Reto Eggenschwiler Thomas Gschwendtberger, Christian Felski, Christopher Jahn, Florian Langer, Jared Sterneckert, Andreas Hermann, Jonathan Lühmann, Doris Steinemann, Alexandra Haase, Ulrich Martin, Susanne Petri, Tobias Cantz
9. November 2021 (STOP-FSGS)
Regenerating tubular epithelial cells of the kidney

Nephrol Dial Transplant. 2021 Nov 9. >>PubMed-Link<<

Eleni Stamellou, Katja Leuchtle, Marcus J Moeller
8. November 2021 (MitoNet)
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes

EMBO Mol Med. 2021 Nov 8. >>PubMed-Link<<

Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus-Durner, Martin Hrabě de Angelis
5. November 2021 (MitoNet)
Mitochondriale Erkrankungen

Dtsch Arztebl Int. 2021 Nov 5 . >>PubMed-Link<<

Thomas Klopstock, Claudia Priglinger, Ali Yilmaz, Cornelia Kornblum, Felix Distelmaier, Holger Prokisch
4. November 2021 (NEOCYST)
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Sci Rep. 2021 Nov 4. >>PubMed-Link<<

Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Anja Büscher, Ute Derichs, Ismail Dursun, Ali Duzova, Loai Akram Eid, Matthias Galiano, Michaela Gessner, Ibrahim Gokce, Karsten Haeffner, Nakysa Hooman, Augustina Jankauskiene, Friederike Körber, Germana Longo, Laura Massella, Djalila Mekahli, Gordana Miloševski-Lomić, Hulya Nalcacioglu, Rina Rus, Rukshana Shroff , Stella Stabouli, Lutz T Weber, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, ARegPKD Consortium
4. November 2021 (GeNeRARe)
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Am J Hum Genet. 2021 Nov 4. >>PubMed-Link<<

Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Leila Essaddam, Gulen Eda Utine, Ingrid Guarnetti Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E L M Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, Saayda Ben Becher, Bruce D Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia
2. November 2021 (ADDRess)
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis

JAMA Oncol. 2021 Oct 28. >>PubMed-Link<<

Christian P Kratz, Claire Freycon, Kara N Maxwell, Kim E Nichols, Joshua D Schiffman, D Gareth Evans, Maria I Achatz, Sharon A Savage, Jeffrey N Weitzel, Judy E Garber, Pierre Hainaut, David Malkin
Details
1. November 2021 (STOP-FSGS)
Role of mTOR Signaling for Tubular Function and Disease

Physiology (Bethesda). 2021 Nov 1. >>PubMed-Link<<

Florian Grahammer, Tobias B Huber, Ferruh Artunc
1. November 2021 (Treat-ION)
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model

J Clin Invest. 2021 Nov 1. >>PubMed-Link<<

Eva Auffenberg, Ulrike Bs Hedrich, Raffaella Barbieri, Daniela Miely, Bernhard Groschup, Thomas V Wuttke, Niklas Vogel, Philipp Lührs, Ilaria Zanardi, Sara Bertelli, Nadine Spielmann, Valerie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Michael Pusch, Martin Dichgans, Holger Lerche, Paola Gavazzo, Nikolaus Plesnila, Tobias Freilinger
1. November 2021 (ADDRess)
Cluster of differentiation 33 single nucleotide polymorphism rs12459419 is a predictive factor in patients with nucleophosmin1-mutated acute myeloid leukemia receiving gemtuzumab ozogamicin

Haematologica. 2021 Nov 1. >>PubMed-Link<<

Katrin Teich, Julia Krzykalla, Silke Kapp-Schwoerer, Verena I Gaidzik, Richard F Schlenk, Peter Paschka, Daniela Weber, Walter Fiedler, Michael W M Kühn, Thomas Schroeder, Karin Mayer, Michael Lübbert, Dhanya Ramachandran , Axel Benner, Arnold Ganser, Hartmut Döhner, Michael Heuser, Konstanze Döhner, Felicitas Thol
1. November 2021 (CONNECT-GENERATE)
Encephalitis patient-derived monoclonal GABAA receptor antibodies cause epileptic seizures

J Exp Med. 2021 Nov 1. >>PubMed-Link<<

Jakob Kreye, Sukhvir K Wright, Adriana van Casteren, Laura Stöffler, Marie-Luise Machule, S Momsen Reincke, Marc Nikolaus, Scott van Hoof, Elisa Sanchez-Sendin, Marie A Homeyer, César Cordero Gómez, Hans-Christian Kornau, Dietmar Schmitz, Angela M Kaindl, Philipp Boehm-Sturm, Susanne Mueller, Max A Wilson, Manoj A Upadhya, Divya R Dhangar, Stuart Greenhill, Gavin Woodhall, Paul Turko, Imre Vida, Craig C Garner, Jonathan Wickel, Christian Geis, Yuko Fukata, Masaki Fukata, Harald Prüss
1. November 2021 (GAIN)
BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity

J Exp Med. 2021 Nov 1. >>PubMed-Link<<

Zsófia Agnes Bittner, Xiao Liu, Maria Mateo Tortola, Ana Tapia-Abellán, Sangeetha Shankar, Liudmila Andreeva, Matthew Mangan, Marianne Spalinger, Hubert Kalbacher, Peter Düwell, Marta Lovotti, Karlotta Bosch, Sabine Dickhöfer, Ana Marcu, Stefan Stevanović, Franziska Herster, Yamel Cardona Gloria, Tzu-Hsuan Chang, Francesca Bork, Carsten L Greve, Markus W Löffler, Olaf-Oliver Wolz, Nadine A Schilling, Jasmin B Kümmerle-Deschner, Samuel Wagner, Anita Delor, Bodo Grimbacher, Oliver Hantschel, Michael Scharl, Hao Wu, Eicke Latz, Alexander N R Weber
1. November 2021 (MyPred)
Recommendations for Diagnosis and Treatment of Children with Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia in Down Syndrome (ML-DS)

Klin Padiatr. 2021 Nov. >>PubMed-Link<<

Sina Al-Kershi, Richard Golnik, Marius Flasinski, Katharina Waack, Mareike Rasche, Ursula Creutzig, Michael Dworzak, Dirk Reinhardt, Jan-Henning Klusmann
1. November 2021 (MyPred)
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

Leukemia. 2021 Nov. >>PubMed-Link<<

Melanie Decker, Tim Lammens, Alina Ferster, Miriam Erlacher, Ayami Yoshimi, Charlotte M Niemeyer, Martijn P T Ernst, Marc H G P Raaijmakers, Nicolas Duployez, Andreas Flaum, Doris Steinemann, Brigitte Schlegelberger, Thomas Illig, Tim Ripperger
1. November 2021 (MyPred)
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Haematologica. 2021 Nov 1. >>PubMed-Link<<

Claire C Homan, Sarah L King-Smith, David M Lawrence, Peer Arts, Jinghua Feng, James Andrews, Mark Armstrong, Thuong Ha, Julia Dobbins, Michael W Drazer, Kai Yu, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Jude Fitzgibbon, Jeffery M Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Paul Liu, Lucy A Godley, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Anna L Brown
1. November 2021 (NEOCYST)
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy

Kidney Int. 2021 Nov. >>PubMed-Link<<

Johannes Birtel, Georg Spital, Marius Book, Sandra Habbig, Sören Bäumner, Vera Riehmer, Bodo B Beck, David Rosenkranz, Hanno J Bolz, Mareike Dahmer-Heath, Philipp Herrmann, Jens König, Peter Charbel Issa
30. October 2021 (GeNeRARe)
Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment

Genes (Basel). 2021 Oct 30. >>PubMed-Link<<

Verica Vasic, Mattson S O Jones, Denise Haslinger, Lisa S Knaus, Michael J Schmeisser, Gaia Novarino, Andreas G Chiocchett
28. October 2021 (GeNeRARe)
Inhibition of the RacGEF VAV3 by the small molecule IODVA1 impedes RAC signaling and overcomes resistance to tyrosine kinase inhibition in acute lymphoblastic leukemia

Leukemia. 2021 Oct 28. >>PubMed-Link<<

Shailaja Hegde, Anjelika Gasilina, Mark Wunderlich, Yuan Lin, Marcel Buchholzer, Oliver H F Krumbach, Mohammad Akbarzadeh, Mohammad Reza Ahmadian, William Seibel, Yi Zheng, John P Perentesis, Benjamin E Mizukawa, Lisa Privette Vinnedge, José A Cancelas, Nicolas N Nassar
27. October 2021 (GeNeRARe)
RHO GTPase-Related Long Noncoding RNAs in Human Cancers

Cancers (Basel). 2021 Oct 27. >>PubMed-Link<<

Mahsa Saliani, Amin Mirzaiebadizi, Niloufar Mosaddeghzadeh, Mohammad Reza Ahmadian
27. October 2021 (MyPred)
The regulatory effect of hyaluronan on human mesenchymal stem cells’ fate modulates their interaction with cancer cells in vitro

Sci Rep. 2021 Oct 27. >>PubMed-Link<<

Christian Vogeley, Özer Degistirici, Sören Twarock, Jessica Wladarz, Oliver Reiners, Tobias Gorges, Jens W Fischer, Roland Meisel, Katharina Gorges
25. October 2021 (CONNECT-GENERATE)
CSF Findings in Acute NMDAR and LGI1 Antibody-Associated Autoimmune Encephalitis

EMBO Mol Med. 2021 Nov 8. >>PubMed-Link<<

Marc Dürr, Gunnar Nissen, Kurt-Wolfram Sühs, Philipp Schwenkenbecher , Christian Geis, Marius Ringelstein, Hans-Peter Hartung, Manuel A Friese, Max Kaufmann, Michael P Malter, Marie Madlener, Franziska S Thaler, Tania Kümpfel, Makbule Senel, Martin G Häusler, Hauke Schneider, Florian Then Bergh, Christoph Kellinghaus, Uwe K Zettl, Klaus-Peter Wandinger, Nico Melzer, Catharina C Gross, Peter Lange, Jens Dreyhaupt, Hayrettin Tumani, Frank Leypoldt, Jan Lewerenz, German Network for Research on Autoimmune Encephalitis
22. October 2021 (MitoNet)
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Brain. 2021 Oct 22. >>PubMed-Link<<

Federica Invernizzi, Andrea Legati, Alessia Nasca, Eleonora Lamantea, Barbara Garavaglia, Mirjana Gusic, Robert Kopajtich, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Daniele Ghezzi
21. October 2021 (MitoNet)
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Mol Ther Nucleic Acids. 2021 Oct 21. >>PubMed-Link<<

Christoph Jüschke, Thomas Klopstock, Claudia B Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt
18. October 2021 (NEOCYST)
Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene

Stem Cell Res. 2021 Oct 18. >>PubMed-Link<<

Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter
16. October 2021 (NEOCYST)
Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Res. 2021 Oct 16. >>PubMed-Link<<

Mansoureh Tabatabaeifar, Theresa Leonie Fluhr, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter
15. October 2021 (GAIN)
The expansion of human T-bet high CD21 low B cells is T cell dependent

Sci Immunol. 2021 Oct 15. >>PubMed-Link<<

Bärbel Keller, Valentina Strohmeier, Ina Harder, Susanne Unger, Kathryn J Payne, Geoffroy Andrieux, Melanie Boerries, Peter Tobias Felixberger, Jonathan J M Landry, Alexandra Nieters, Anne Rensing-Ehl, Ulrich Salzer, Natalie Frede, Susanne Usadel, Roland Elling, Carsten Speckmann, Ina Hainmann, Elizabeth Ralph, Kimberly Gilmour, Marjolein W J Wentink, Mirjam van der Burg, Hye Sun Kuehn, Sergio D Rosenzweig, Uwe Kölsch, Horst von Bernuth, Petra Kaiser-Labusch, Florian Gothe, Sophie Hambleton, Alexandru Daniel Vlagea, Ana Garcia Garcia, Laia Alsina, Gašper Markelj, Tadej Avcin, Julia Vasconcelos, Margarida Guedes, Jing-Ya Ding, Cheng-Lung Ku , Bella Shadur, Danielle T Avery, Nils Venhoff, Jens Thiel, Heiko Becker, Lucía Erazo-Borrás, Claudia Milena Trujillo-Vargas, José Luis Franco, Claire Fieschi, Satoshi Okada, Paul E Gray, Gulbu Uzel, Jean-Laurent Casanova, Manfred Fliegauf, Bodo Grimbacher, Hermann Eibel, Stephan Ehl, Reinhard E Voll, Marta Rizzi, Polina Stepensky, Vladimir Benes, Cindy S Ma, Claudia Bossen, Stuart G Tangye, Klaus Warnatz
Details
14. October 2021 (MitoNet)
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

Int J Mol Sci. 2021 Oct 14. >>PubMed-Link<<

Matthias Elstner, Konrad Olszewski, Holger Prokisch, Thomas Klopstock, Marta Murgia
13. October 2021 (CONNECT-GENERATE)
Super-resolving Microscopy in Neuroscience

Chem Rev. 2021 Oct 13. >>PubMed-Link<<

Christian Werner, Markus Sauer, Christian Geis
7. October 2021 (GAIN)
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency

Int Arch Allergy Immunol. 2021 Oct 7. >>PubMed-Link<<

Georgios Sogkas, Natalia Dubrowinskaja, Katharina Schütz, Lars Steinbrück, Jasper Götting, Nicolaus Schwerk, Ulrich Baumann, Bodo Grimbacher, Torsten Witte, Reinhold E Schmidt, Faranaz Atschekzei
5. October 2021 (ADDRess)
Inhibition of USP28 overcomes Cisplatin-resistance of squamous tumors by suppression of the Fanconi anemia pathway

Cell Death Differ. 2021 Oct 5. >>PubMed-Link<<

Cristian Prieto-Garcia, Oliver Hartmann, Michaela Reissland, Thomas Fischer, Carina R Maier, Mathias Rosenfeldt, Christina Schülein-Völk, Kevin Klann, Reinhard Kalb, Ivan Dikic, Christian Münch, Markus E Diefenbacher
5. October 2021 (NEOCYST)
Is There a Functional Role of Mitochondrial Dysfunction in the Pathogenesis of ARPKD?

Front Med (Lausanne). 2021 Oct 5. >>PubMed-Link<<

Max Christoph Liebau
4. October 2021 (GeNeRARe)
Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis

Gene Expr Patterns. 2021 Oct 4. >>PubMed-Link<<

Ernestine Treimer, Kathrin Niedermayer, Sven Schumann, Martin Zenker, Michael J Schmeisser, Susanne J Kühl
1. October 2021 (ADDRess)
Proportion of children with cancer that have an indication for genetic counseling and testing based on the cancer type irrespective of other features

Fam Cancer. 2021 Oct. >>Web-Link<<

Thi Minh Kha Nguyen, Astrid Behnert, Torsten Pietsch, Christian Vokuhl, Christian Peter Kratz
1. October 2021 (TreatHSP.net)
Functional gait measures correlate to fear of falling, and quality of life in patients with Hereditary Spastic Paraplegia: A cross-sectional study

Clin Neurol Neurosurg. 2021 Oct. >>PubMed-Link<<

Heiko Gaßner, Julia List, Christine F Martindale, Martin Regensburger, Jochen Klucken, Jürgen Winkler, Zacharias Kohl
1. October 2021 (CONNECT-GENERATE)
Rituximab Treatment and Long-term Outcome of Patients With Autoimmune Encephalitis: Real-world Evidence From the GENERATE Registry

Neurol Neuroimmunol Neuroinflamm. 2021 Oct 1. >>PubMed-Link<<

Franziska S Thaler, Luise Zimmermann, Stefan Kammermeier, Christine Strippel, Marius Ringelstein, Andrea Kraft, Kurt-Wolfram Sühs, Jonathan Wickel, Christian Geis, Robert Markewitz, Christian Urbanek, Claudia Sommer, Kathrin Doppler, Loana Penner, Jan Lewerenz, Rosa Rößling, Carsten Finke, Harald Prüss, Nico Melzer, Klaus-Peter Wandinger, Frank Leypoldt, Tania Kümpfel, German Network for Research on Autoimmune Encephalitis (GENERATE)
1. October 2021 (MyPred)
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Nat Med. 2021 Oct. >>PubMed-Link<<

Sushree S Sahoo, Victor B Pastor, Charnise Goodings, Rebecca K Voss, Emilia J Kozyra, Amina Szvetnik, Peter Noellke, Michael Dworzak, Jan Starý, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Barbara De Moerloose, Albert Catala, Krisztián Kállay, Dominik Turkiewicz, Henrik Hasle, Jochen Buechner, Kirsi Jahnukainen, Marek Ussowicz, Sophia Polychronopoulou, Owen P Smith, Oksana Fabri, Shlomit Barzilai, Valerie de Haas, Irith Baumann, Stephan Schwarz-Furlan, European Working Group of MDS in Children (EWOG-MDS); Marena R Niewisch, Martin G Sauer, Birgit Burkhardt, Peter Lang, Peter Bader, Rita Beier, Ingo Müller, Michael H Albert, Roland Meisel, Ansgar Schulz, Gunnar Cario, Pritam K Panda, Julius Wehrle, Shinsuke Hirabayashi, Marta Derecka, Robert Durruthy-Durruthy, Gudrun Göhring, Ayami Yoshimi-Noellke, Manching Ku, Dirk Lebrecht, Miriam Erlacher, Christian Flotho, Brigitte Strahm, Charlotte M Niemeyer, Marcin W Wlodarski
Details
1. October 2021 (STOP-FSGS)
High salt diet-induced proximal tubular phenotypic changes and sodium-glucose cotransporter-2 expression are coordinated by cold shock Y-box binding protein-1

FASEB J. 2021 Oct. >>PubMed-Link<<

Anja Bernhardt, Saskia Häberer, JingJing Xu, Hannah Damerau, Johannes Steffen, Charlotte Reichardt, Katharina Wolters, Hannes Steffen, Berend Isermann, Katrin Borucki, Nadine Artelt, Nicole Endlich, Renata Kozyraki, Sabine Brandt, Jonathan A Lindquist, Peter R Mertens
1. October 2021 (MitoNet)
Quantification of NADH:ubiquinone oxidoreductase (complex I) content in biological samples

J Biol Chem. 2021 Oct. >>PubMed-Link<<

Fariha Ansari, Belem Yoval-Sánchez, Zoya Niatsetskaya, Sergey Sosunov, Anna Stepanova, Christian Garcia, Edward Owusu-Ansah, Vadim Ten, Ilka Wittig, Alexander Galkin
1. October 2021 (ADDRess)
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer

Fam Cancer. 2021 Oct. >>PubMed-Link<<

Tim Ripperger, D Gareth Evans, David Malkin, Christian P Kratz

joint publication ADDRess/MyPred
1. October 2021 (CONNECT-GENERATE)
Analysis of autoantibody spectrum and human herpesvirus 6 in adult patients with ‘early’ versus ‘late’ diagnosis of ‘possible limbic encephalitis’

Epilepsy Res. 2021 Oct. >>PubMed-Link<<

Annika Reimers, Chiara A Hummel, Anna Maria Eis-Hübinger, Rainer Surges, Pitt Niehusmann, Susanne Schoch, Albert J Becker, Julika Pitsch
1. October 2021 (ADDRess)
Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline

Geburtshilfe Frauenheilkd. 2021 Oct.

Kratz Christian Peter, Steinke-Lange Verena, Spier Isabel, Aretz Stefan, Schroeck Evelin, Holinski-Feder Elke
1. October 2021 (MyPred)
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer

Fam Cancer. 2021 Oct. >>PubMed-Link<<

Tim Ripperger, D Gareth Evans, David Malkin, Christian P Kratz

joint publication ADDRess/MyPred
1. October 2021 (ADDRess)
Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany

J Clin Oncol. 2021 Oct 1. >>PubMed-Link<<

Christina M Dutzmann, Claudia Spix, Isabell Popp, Melanie Kaiser, Friederike Erdmann, Miriam Erlacher, Thilo Dörk, Detlev Schindler, Reinhard Kalb, Christian P Kratz
Details
1. October 2021 (GAIN)
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation

J Clin Immunol. 2021 Oct 1. >>PubMed-Link<<

Cornelia M van Schewick, David M Lowe, Siobhan O Burns, Sarita Workman, Andrew Symes, David Guzman, Fernando Moreira, Jennifer Watkins, Ian Clark, Bodo Grimbacher
1. October 2021 (MitoNet)
Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy

Int Ophthalmol Clin. 2021 Oct 1. >>PubMed-Link<<

José-Alain Sahel, Nancy J Newman, Patrick Yu-Wai-Man, Catherine Vignal-Clermont, Valerio Carelli, Valérie Biousse, Mark L Moster, Robert Sergott, Thomas Klopstock, Alfredo A Sadun, Laure Blouin, Barrett Katz, Magali Taiel
1. October 2021 (MitoNet)
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

Neurogenetic. 2021 Oct. >>PubMed-Link<<

Maletzko A., Key J., Wittig I., Gispert S., Koepf G., Canet-Pons J., Torres-Odio S., West A. P., Auburger G.
30. September 2021 (CONNECT-GENERATE)
Long-Term Cognitive Outcome in Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Ann Neurol. 2021 Sep 30. >>PubMed-Link<<

Josephine Heine, Ute A Kopp, Johanna Klag, Christoph J Ploner, Harald Prüss, Carsten Finke
29. September 2021 (TreatHSP.net)
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives

Nucleic Acid Ther. 2021 Sep 29. >>PubMed-Link<<

Matthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, Hermine A van Duyvenvoorde, Holm Graessner, Rebecca Schüle, Annemieke Aartsma-Rus
28. September 2021 (CONNECT-GENERATE)
Genome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis

Neurol Neuroimmunol Neuroinflamm. 2021 Sep 28. >>PubMed-Link<<

Anja K Tietz, Klemens Angstwurm, Tobias Baumgartner, Kathrin Doppler, Katharina Eisenhut, Martin Elisak, Andre Franke, Kristin S Golombeck, Robert Handreka, Max Kaufmann, Markus Kraemer, Andrea Kraft, Jan Lewerenz, Wolfgang Lieb, Marie Madlener, Nico Melzer, Hana Mojzisova, Peter Möller, Thomas Pfefferkorn, Harald Prüss, Kevin Rostásy, Margret Schnegelsberg, Ina Schröder, Kai Siebenbrodt, Kurt-Wolfram Sühs, Jonathan Wickel, Klaus-Peter Wandinger, Frank Leypoldt, Gregor Kuhlenbäumer, German Network for Research on Autoimmune Encephalitis (GENERATE)
28. September 2021 (GAIN)
Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritis

Ann Rheum Dis. 2021 Sep 28. >>PubMed-Link<<

Ignatius Ryan Adriawan, Faranaz Atschekzei, Oliver Dittrich-Breiholz, Panagiotis Garantziotis, Stefanie Hirsch, Linus Maximillian Risser, Maike Kosanke, Reinhold Ernst Schmidt, Torsten Witte, Georgios Sogkas
26. September 2021 (ADDRess)
Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study

Cancer Med. 2021 Sep 26. >>PubMed-Link<<

Nathalie Rippinger, Christine Fischer, Hans-Peter Sinn, Nicola Dikow, Christian Sutter, Kerstin Rhiem, Sabine Grill, Friedrich W Cremer, Huu P Nguyen, Nina Ditsch, Karin Kast, Simone Hettmer, Christian P Kratz, Sarah Schott
23. September 2021 (STOP-FSGS)
Increased rejection rates in kidney transplantations during the COVID-19 pandemic

Transpl Int. 2021 Sep 23. >>PubMed-Link<<

Christian Schmidt-Lauber, Melissa Spoden, Tobias B Huber, Christian Günster, Florian Grahammer
22. September 2021 (GAIN)
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients

Pediatr Pulmonol. 2021 Sep 22. >>PubMed-Link<<

Florian Gothe, Jonathan Gehrig, Christina Katharina Rapp, Katrin Knoflach, Simone Reu-Hofer, Florian Länger, Dirk Schramm, Julia Ley-Zaporozhan, Stephan Ehl, Nicolaus Schwerk, Laura Faletti, Matthias Griese
20. September 2021 (CONNECT-GENERATE)
Multimodal electrophysiological analyses reveal that reduced synaptic excitatory neurotransmission underlies seizures in a model of NMDAR antibody-mediated encephalitis

Commun Biol. 2021 Sep 20. >>PubMed-Link<<

Sukhvir K Wright, Richard E Rosch, Max A Wilson, Manoj A Upadhya, Divya R Dhangar, Charlie Clarke-Bland, Tamara T Wahid, Sumanta Barman, Norbert Goebels, Jakob Kreye, Harald Prüss, Leslie Jacobson, Danielle S Bassett, Angela Vincent, Stuart D Greenhill, Gavin L Woodhall
10. September 2021 (HiChol)
Intrahepatic cholestasis of pregnancy in conjunction with a frameshift deletion in FGFR4

Clin Res Hepatol Gastroenterol. 2021 Sep 10. >>PubMed-Link<<

Syeda Saima Batool, Marc Dauer, Susanne Nicole Weber, Roman Liebe, Frank Lammert, Matthias Christian Reichert
9. September 2021 (Treat-ION)
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature

Front Neurol. 2021 Sep 9. >>PubMed-Link<<

Stephan Lauxmann, Lukas Sonnenberg, Nils A Koch, Christian Bosselmann, Natalie Winter, Niklas Schwarz, Thomas V Wuttke, Ulrike B S Hedrich, Yuanyuan Liu, Holger Lerche, Jan Benda, Josua Kegele
6. September 2021 (MyPred)
Induced Pluripotent Stem Cells to Model Juvenile Myelomonocytic Leukemia: New Perspectives for Preclinical Research

Cells. 2021 Sep 6. >>PubMed-Link<<

Zeinab Wehbe, Foued Ghanjati, Christian Flotho
6. September 2021 (STOP-FSGS)
Multiorgan tropism of SARS-CoV-2 lineage B.1.1.7

Int J Legal Med. 2021 Sep 6. >>PubMed-Link<<

Benjamin Ondruschka, Fabian Heinrich, Maja Lindenmeyer, Carolin Edler, Dustin Möbius, Jan Czogalla, Axel Heinemann, Fabian Braun, Martin Aepfelbacher, Marc Lütgehetmann, Tobias B Huber
3. September 2021 (GeNeRARe)
Criss-crossing autism spectrum disorder and adult neurogenesis

J Neurochem. 2021 Sep 3. >>PubMed-Link<<

Frank Bicker, Leonardo Nardi, Jannik Maier, Verica Vasic, Michael J Schmeisser
1. September 2021 (NEOCYST)
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Kidney Int. 2021 Sep. >>PubMed-Link<<

Burgmaier, K., Brinker, L., Erger, F., Beck, B. B., Benz, M. R., Bergmann, C., Boyer, O., Collard, L., Dafinger, C., Fila, M., Kowalewska, C., Lange-Sperandio, B., Massella, L., Mastrangelo, A., Mekahli, D., Miklaszewska, M., Ortiz-Bruechle, N., Patzer, L., Prikhodina, L., Ranchin, B., Ranguelov, N., Schild, R., Seeman, T., Sever, L., Sikora, P., Szczepanska, M., Teixeira, A., Thumfart, J., Uetz, B., Weber, L. T., Wuhl, E., Zerres, K., Dotsch, J., Schaefer, F., Liebau, M. C., Escape Study Grp, G. P. N. Study Grp, A. RegPKD Consortium
Details
1. September 2021 (NEOCYST)
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

J Med Genet. 2021 Sep. >>PubMed-Link<<

Mareike Dahmer-Heath, Valentin Schriever, Sabine Kollmann, Carolin Schleithoff, Andrea Titieni, Metin Cetiner, Ludwig Patzer, Burkhard Tönshoff, Matthias Hansen, Petra Pennekamp, Joachim Gerß, Martin Konrad, Jens König
1. September 2021 (HiChol)
Downregulation of TGR5 (GPBAR1) in biliary epithelial cells contributes to the pathogenesis of sclerosing cholangitis

J Hepatol. 2021 Sep. >>PubMed-Link<<

Reich, M., Spomer, L., Klindt, C., Fuchs, K., Stindt, J., Deutschmann, K., Hohne, J., Liaskou, E., Hov, J. R., Karlsen, T. H., Beuers, U., Verheij, J., Ferreira-Gonzalez, S., Hirschfield, G., Forbes, S. J., Schramm, C., Esposito, I., Nierhoff, D., Fickert, P., Fuchs, C. D., Trauner, M., Garcia-Beccaria, M., Gabernet, G., Nahnsen, S., Mallm, J. P., Vogel, M., Schoonjans, K., Lautwein, T., Kohrer, K., Haussinger, D., Luedde, T., Heikenwalder, M., Keitel, V.
1. September 2021 (GeNeRARe)
Rigosertib elicits potent anti-tumor responses in colorectal cancer by inhibiting Ras signaling pathway

Cell Signal. 2021 Sep. >>PubMed-Link<<

Rahmani, F., Hashemzehi, M., Avan, A., Barneh, F., Asgharzadeh, F., Marjaneh, R. M., Soleimani, A., Parizadeh, M., Ferns, G. A., Mobarhan, M. G., Ryzhikov, M., Afshari, A. R., Ahmadian, M. R., Giovannetti, E., Jafari, M., Khazaei, M., Hassanian, S. M.
1. September 2021 (CONNECT-GENERATE)
Association Between Neuronal Autoantibodies and Cognitive Impairment in Patients With Lung Cancer

JAMA Oncol. 2021 Sep 1. >>PubMed-Link<<

Bartels F, Wandrey MM, Aigner A, Strönisch T, Farmer K, Rentzsch K, Tessmer A, Grohé C, Finke C
Details
1. September 2021 (MitoNet)
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies

J Neuroophthalmol. 2021 Sep 1. >>PubMed-Link<<

Mark L Moster, Robert C Sergott, Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Molly Scannell Bryan, Gerard Smits, Valérie Biousse, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A Sadun, Adam A DeBusk, Michele Carbonelli, Rabih Hage, Siegfried Priglinger, Rustum Karanjia, Laure Blouin, Magali Taiel, Barrett Katz, José Alain Sahel, LHON study group
1. September 2021 (Treat-ION)
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy

Science Translational Medicine. 2021 Sep. >>PubMed-Link<<

U. B. S. Hedrich, S. Lauxmann, M. Wolff, M. Synofzik, T. Bast, A. Binelli, J. M. Serratosa, P. Martínez-Ulloa, N. M. Allen, M. D. King, K. M. Gorman, B. B. Zeev, M. Tzadok, L. Wong-Kisiel, D. Marjanovic, G. Rubboli, S. M. Sisodiya, F. Lutz, H. P. Ashraf, K. Torge, P. Yan, C. Bosselmann, N. Schwarz, M. Fudali, H. Lerche
Details
26. August 2021 (TreatHSP.net)
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in

Stem Cell Res. 2021 Aug 26. >>PubMed-Link<<

Laura Krumm, Tatyana Pozner, Johanna Kaindl, Martin Regensburger, Claudia Günther, Soeren Turan, Reza Asadollahi, Anita Rauch, Beate Winner
25. August 2021 (Treat-ION)
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Brain. 2021 Aug 25. >>PubMed-Link<<

Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M Rho, Alice W Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S Verhoeven, Bert van der Zwaag, Aster V E Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Grønborg, Stephen W Scherer, Jennifer Howe, Walid Fazeli, Katherine B Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Bénédicte Gerard, Sara Matricardi, Claudia M Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M Savatt, Karen Müller-Schlüter, Haim Bassan, Artem Borovikov, Marie-Cecile Nassogne, Anne Destrée, An-Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen-Hann Tan, Heather E Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L Helbig, Ingo Helbig, Mark P Fitzgerald, Ethan M Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brünger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O Heyne, Gaetan Lesca, Ulrike B S Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S Møller
24. August 2021 (CONNECT-GENERATE)
Intrathecal Antibody Production Against Epstein-Barr, Herpes Simplex, and Other Neurotropic Viruses in Autoimmune Encephalitis

Neurol Neuroimmunol Neuroinflamm. 2021 Aug 24. >>PubMed-Link<<

Philipp Schwenkenbecher, Thomas Skripuletz, Peter Lange, Marc Dürr, Felix F Konen, Nora Möhn, Marius Ringelstein, Til Menge, Manuel A Friese, Nico Melzer, Michael P Malter, Martin Häusler, Franziska S Thaler, Martin Stangel, Jan Lewerenz, Kurt-Wolfram Sühs, German Network for Research on Autoimmune Encephalitis
20. August 2021 (STOP-FSGS)
Intercellular cGAMP transmission induces innate immune activation and tissue inflammation in Trex1 deficiency

iScience. 2021 Jul 9. >>PubMed-Link<<

Jutte, B. B., Krollmann, C., Cieslak, K., Koerber, R. M., Boor, P., Graef, C. M., Bartok, E., Wagner, M., Carell, T., Landsberg, J., Aymans, P., Wenzel, J., Brossart, P., Teichmann, L. L.
13. August 2021 (CONNECT-GENERATE)
Structural and functional ramifications of antigenic drift in recent SARS-CoV-2 variants

Science. 2021 Aug 13. >>PubMed-Link<<

Meng Yuan, Deli Huang, Chang-Chun D Lee, Nicholas C Wu, Abigail M Jackson, Xueyong Zhu, Hejun Liu, Linghang Peng, Marit J van Gils, Rogier W Sanders, Dennis R Burton, S Momsen Reincke, Harald Prüss, Jakob Kreye, David Nemazee, Andrew B Ward, Ian A Wilson
13. August 2021 (GAIN)
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

J Clin Immunol. 2021 Aug 13. >>PubMed-Link<<

Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Baric, I., Boy, N., Church, J. A., Crushell, E., Dick, A., Distelmaier, F., Gujar, J., Indolfi, G., Lurz, E., Peters, B., Schwerd, T., Serranti, D., Kolker, S., Klein, C., Hoffmann, G. F., Prokisch, H., Greil, J., Cerwenka, A., Giese, T., Staufner, C.
12. August 2021 (NEOCYST)
Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease-are patient-centered outcomes our blind spot?

Pediatr Nephrol. 2021 Aug 12. >>PubMed-Link<<

Gimpel, C., Liebau, M. C., Schaefer, F.
8. August 2021 (Treat-ION)
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations

Mol Genet Metab. Sep-Oct 2021. >>PubMed-Link<<

Alexander Tobias Kaczmarek, Nike Bahlmann, Besarta Thaqi, Patrick May, Guenter Schwarz
6. August 2021 (MitoNet)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Am J Hum Genet. 2020 Aug 6. >>PubMed-Link<<

Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack

joint publication mitoNET/TreatHSP.net
Details
5. August 2021 (MitoNet)
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder

EMBO Rep. 2021 Aug 5;e51991. [Epub ahead of print] >>PubMed-Link<<

Esther Nuebel, Jeffrey T Morgan, Sarah Fogarty, Jacob M Winter, Sandra Lettlova , Jordan A Berg, Yu-Chan Chen, Chelsea U Kidwell, J Alan Maschek, Katie J Clowers, Catherine Argyriou, Lingxiao Chen, Ilka Wittig, James E Cox, Minna Roh-Johnson, Nancy Braverman, Joshua Bonkowsky, Steven P Gygi, Jared Rutter
1. August 2021 (GAIN)
TACI deficiency – a complex system out of balance

Curr Opin Immunol. 2021 Aug. >>PubMed-Link<<

Ulrich Salzer, Bodo Grimbacher
1. August 2021 (STOP-FSGS)
Multisystemic Cellular Tropism of SARS-CoV-2 in Autopsies of COVID-19 Patients

Cells. 2021 Aug. >>PubMed-Link<<

Wong, D. W. L., Klinkhammer, B. M., Djudjaj, S., Villwock, S., Timm, M. C., Buhl, E. M., Wucherpfennig, S., Cacchi, C., Braunschweig, T., Knuchel-Clarke, R., Jonigk, D., Werlein, C., Bulow, R. D., Dahl, E., Von Stillfried, S., Boor, P.
1. August 2021 (HiChol)
Kapitel 50 – Behandlung progressiv-familiärer intrahepatischer Cholestasen (PFIC)

in: Therapie-Handbuch – Gastroenterologie und Hepatologie, 2021. >>ScienceDirect-Link<<

Verena Keitel-Anselmino
1. August 2021 (STOP-FSGS)
Deep-Learning-Driven Quantification of Interstitial Fibrosis in Digitized Kidney Biopsies

Am J Pathol. 2021 Aug. >>PubMed-Link<<

Yi Zheng, Clarissa A Cassol, Saemi Jung, Divya Veerapaneni, Vipul C Chitalia, Kevin Y M Ren, Shubha S Bellur, Peter Boor, Laura M Barisoni, Sushrut S Waikar, Margrit Betke, Vijaya B Kolachalama
1. August 2021 (GAIN)
TACI deficiency – a complex system out of balance

Curr Opin Immunol. 2021 Aug. >>PubMed-Link<<

Salzer, U, Grimbacher, B
1. August 2021 (MitoNet)
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

Mol Genet Metab. 2021 Aug. >>PubMed-Link<<

Marisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, Ann Punnoose, Eric Wartchow, Kaz M Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A Mayr, Johan L K Van Hove
1. August 2021 (GAIN)
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency

Clin Immunol. 2021 Aug. >>PubMed-Link<<

Lanz, A. L., Riester, M., Peters, P., Schwerd, T., Lurz, E., Hajji, M. S., Rohlfs, M., Ley-Zaporozhan, J., Walz, C., Kotlarz, D., Klein, C., Albert, M. H., Hauck, F.
26. July 2021 (MitoNet)
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Bone Rep. 2021 Jul 26. >>PubMed-Link<<

Ahmed El-Gazzar, Johannes A Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler
21. July 2021 (MitoNet)
Complexome Profiling: Assembly and Remodeling of Protein Complexes

Int J Mol Sci. 2021 Jul 21. >>PubMed-Link<<

Ilka Wittig, Pedro Felipe Malacarne
20. July 2021 (MitoNet)
Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data

Brief Bioinform. 2021 Jul 20. >>PubMed-Link<<

Heike Deutelmoser, Dominique Scherer, Hermann Brenner, Melanie Waldenberger, INTERVAL study; Karsten Suhre, Gabi Kastenmüller, Justo Lorenzo Bermejo
20. July 2021 (MitoNet)
Natural History of Polymerase Gamma-Related Ataxia

Mov Disord. 2021 Jul 20. >>PubMed-Link<<

Friedemann Bender, Dagmar Timmann, Bart P van de Warrenburg, Astrid D Adarmes-Gómez, Benjamin Bender, Andreas Thieme, Matthis Synofzik, Ludger Schöls
13. July 2021 (MyPred)
Current Treatment of Juvenile Myelomonocytic Leukemia

J Clin Med. 2021 Jul 13. >>PubMed-Link<<

Christina Mayerhofer, Charlotte M Niemeyer, Christian Flotho
11. July 2021 (STOP-FSGS)
Macrophage migration inhibitory factor exerts pro-proliferative and anti-apoptotic effects via CD74 in murine hepatocellular carcinoma

Br J Pharmacol. 2021 Jul 11. >>PubMed-Link<<

Wirtz, T. H., Saal, A., Bergmann, I., Fischer, P., Heinrichs, D., Brandt, E. F., Koenen, M. T., Djudjaj, S., Schneider, K.M., Boor, P., Bucala, R., Weiskirchen, R., Bernhagen, J., Trautwein, C., Berres, M. L.
9. July 2021 (MyPred)
Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

Bone Marrow Transplant. 2021 Jul 9. >>PubMed-Link<<

Rachel Bortnick, Marcin Wlodarski, Valerie de Haas, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Riccardo Masetti, Jan Starý, Dominik Turkiewicz, Marek Ussowicz, Emilia Kozyra, Michael Albert, Peter Bader, Victoria Bordon, Gunnar Cario, Rita Beier, Johannes Schulte, Dorine Bresters, Ingo Müller, Herbert Pichler, Petr Sedlacek, Martin G Sauer, Marco Zecca, Gudrun Göhring, Ayami Yoshimi, Peter Noellke, Miriam Erlacher, Franco Locatelli, Charlotte M Niemeyer, Brigitte Strahm, for EWOG-MDS
9. July 2021 (STOP-FSGS)
Validation of a Prospective Urinalysis-Based Prediction Model for ICU Resources and Outcome of COVID-19 Disease: A Multicenter Cohort Study

J Clin Med. 2021 Jul 9. >>PubMed-Link<<

Oliver Gross, Onnen Moerer, Thomas Rauen, Jan Böckhaus, Elion Hoxha, Achim Jörres, Matthias Kamm, Amin Elfanish, Wolfram Windisch, Michael Dreher, Juergen Floege, Stefan Kluge, Christian Schmidt-Lauber, Jan-Eric Turner, Samuel Huber, Marylyn M Addo, Simone Scheithauer, Tim Friede, Gerald S Braun, Tobias B Huber, Sabine Blaschke
8. July 2021 (Treat-ION)
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders

Front Neurol. 2021 Jul 8. >>PubMed-Link<<

Josua Kegele, Johanna Krüger, Mahmoud Koko, Lara Lange, Ana Victoria Marco Hernandez, Francisco Martinez, Alexander Münchau, Holger Lerche, Stephan Lauxmann
7. July 2021 (TreatHSP.net)
Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons

Front Neurosci. 2021 Jul 7. >>PubMed-Link<<

Fabian Güner, Tatyana Pozner, Florian Krach, Iryna Prots, Sandra Loskarn, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Beate Winner, Martin Regensburger
7. July 2021 (GeNeRARe)
The intramolecular allostery of GRB2 governing its interaction with SOS1 is modulated by phosphotyrosine ligands

Biochem J. 2021 Jul 7. >>PubMed-Link<<

Jasemi, N. S. K., Herrmann, C., Estirado, E. M., Gremer, L., Willbold, D., Brunsveld, L., Dvorsky, R., Ahmadian, M. R.
6. July 2021 (NEOCYST)
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

J Med Genet. 2021 Jul. >>PubMed-Link<<

Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti , Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha
5. July 2021 (GAIN)
B cell depletion impairs vaccination-induced CD8 + T cell responses in a type I interferon-dependent manner

Ann Rheum Dis. 2021 Jul 5. >>PubMed-Link<<

Theresa Graalmann, Katharina Borst, Himanshu Manchanda, Lea Vaas, Matthias Bruhn, Lukas Graalmann, Mario Koster, Murielle Verboom, Michael Hallensleben, Carlos Alberto Guzmán, Gerd Sutter, Reinhold E Schmidt, Torsten Witte, Ulrich Kalinke
1. July 2021 (CONNECT-GENERATE)
ATR regulates neuronal activity by modulating presynaptic firing

Nat Commun. 2021 Jul 1. >>PubMed-Link<<

Murat Kirtay, Josefine Sell, Christian Marx, Holger Haselmann, Mihai Ceanga, Zhong-Wei Zhou, Vahid Rahmati, Joanna Kirkpatrick, Katrin Buder, Paulius Grigaravicius, Alessandro Ori, Christian Geis, Zhao-Qi Wang
1. July 2021 (CONNECT-GENERATE)
Autoimmune Global Amnesia as Manifestation of AMPAR Encephalitis and Neuropathologic Findings

Neurol Neuroimmunol Neuroinflamm. 2021 Jul. >>PubMed-Link<<

Gerda Ricken, Tobias Zrzavy, Stefan Macher, Patrick Altmann, Johannes Troger, Kim Kristin Falk, Andreas Kiefer, Andreas Fichtenbaum, Goran Mitulovic, Helmut Kubista, Klaus-Peter Wandinger, Paulus Rommer, Thorsten Bartsch, Thomas Berger, Jörg Weber, Frank Leypoldt, Romana Höftberger
1. July 2021 (MitoNet)
Mitochondrial disease in adults: recent advances and future promise

Lancet Neurol. 2021 Jul. >>PubMed-Link<<

Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M.
Details
1. July 2021 (NEOCYST)
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021

Am J Kidney Dis. 2021 Jul. >>PubMed-Link<<

Rupesh Raina, Ronith Chakraborty, Sidharth K Sethi, Deepak Kumar, Kelly Gibson, Carsten Bergmann
1. July 2021 (GAIN)
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency

J Am Soc Nephrol. 2022 Jan. >>PubMed-Link<<

Tom Le Voyer, Sonoko Sakata, Miyuki Tsumura, Taushif Khan, Ana Esteve-Sole, Bandar K Al-Saud, Hatice Eke Gungor, Prasad Taur, Valentine Jeanne-Julien, Mette Christiansen, Lisa-Maria Köhler, Gehad Eltayeb ElGhazali, Jérémie Rosain, Shiho Nishimura, Fumiaki Sakura, Matthieu Bouaziz, Carmen Oleaga-Quintas, Alejandro Nieto-Patlán , Àngela Deyà-Martinez, Yasemin Altuner Torun, Anna-Lena Neehus, Manon Roynard, Sefika Elmas Bozdemir, Nawal Al Kaabi, Moza Al Hassani, Irina Mersiyanova, Flore Rozenberg, Carsten Speckmann, Ina Hainmann, Fabian Hauck, Mohammed Hamdan Alzahrani, Sami Hussain Alhajjar, Saleh Al-Muhsen, Theresa Cole, Ramsay Fuleihan, Peter D Arkwright, Raffaele Badolato, Laia Alsina, Laurent Abel, Mukesh Desai, Hamoud Al-Mousa, Anna Shcherbina, Nico Marr, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Satoshi Okada, Jacinta Bustamante
1. July 2021 (ADDRess)
A novel classification of hematologic conditions in patients with Fanconi anemia

Haematologica. 2021 Jul 1. >>PubMed-Link<<

Yvonne Lisa Behrens, Gudrun Göhring, Randa Bawadi, Sümeyye Cöktü, Christina Reimer, Beatrice Hoffmann, Birte Sänger, Simon Käfer, Felicitas Thol, Miriam Erlacher, Charlotte M Niemeyer, Irith Baumann, Reinhard Kalb, Detlev Schindler, Christian Peter Kratz

joint publication ADDRess/MyPred
1. July 2021 (GAIN)
Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients

J Neurol. 2021 Jul 1. >>PubMed-Link<<

Volk, T., Warnatz, K., Marks, R., Urbach, H., Schluh, G., Strohmeier, V., Rojas-Restrepo, J., Grimbacher, B., Rauer, S.
1. July 2021 (CONNECT-GENERATE)
Association Between Neuronal Autoantibodies and Cognitive Impairment in Patients With Lung Cancer

JAMA Oncol. 2021 Jul 1. >>PubMed-Link<<

Bartels, F., Wandrey, M. M., Aigner, A., Stronisch, T., Farmer, K., Rentzsch, K., Tessmer, A., Grohe, C., Finke, C.
1. July 2021 (MyPred)
A novel classification of hematologic conditions in patients with Fanconi anemia

Haematologica. 2021 Jul 1. >>PubMed-Link<<

Yvonne Lisa Behrens, Gudrun Göhring, Randa Bawadi, Sümeyye Cöktü, Christina Reimer, Beatrice Hoffmann, Birte Sänger, Simon Käfer, Felicitas Thol, Miriam Erlacher, Charlotte M Niemeyer, Irith Baumann, Reinhard Kalb, Detlev Schindler, Christian Peter Kratz

joint publication ADDRess/MyPred
1. July 2021 (MitoNet)
CEDAR, an online resource for the reporting and exploration of complexome profiling data

Biochim Biophys Acta Bioenerg. 2021 Jul 1. >>PubMed-Link<<

Joeri van Strien, Alexander Haupt, Uwe Schulte, Hans-Peter Braun, Alfredo Cabrera-Orefice, Jyoti S Choudhary, Felix Evers, Erika Fernandez-Vizarra, Sergio Guerrero-Castillo, Taco W A Kooij, Petra Páleníková, Mercedes Pardo, Cristina Ugalde, Ilka Wittig, Lars Wöhlbrand, Ulrich Brandt, Susanne Arnold, Martijn A Huynen
1. July 2021 (GeNeRARe)
The RHO Family GTPases: Mechanisms of Regulation and Signaling

Cells. 2021 Jul. >>PubMed-Link<<

Mosaddeghzadeh Niloufar; Ahmadian, Mohammad Reza
29. June 2021 (STOP-FSGS)
Non-invasive molecular imaging of kidney diseases

Nat Rev Nephrol. 2021 Jun 29. >>PubMed-Link<<

Barbara M Klinkhammer, Twan Lammers, Felix M Mottaghy, Fabian Kiessling, Jürgen Floege, Peter Boor
27. June 2021 (MyPred)
Somatic mosaicism in inherited bone marrow failure syndromes

Best Pract Res Clin Haematol. 2021 Jun. >>PubMed-Link<<

Gutierrez-Rodrigues, F., Sahoo, S. S., Wlodarski, M. W., Young, N. S.
25. June 2021 (TreatHSP.net)
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

Front Neurol. 2021 Jun 25. >>PubMed-Link<<

Andreas Traschütz, Selina Reich, Astrid D Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H Roxburgh, Filippo M Santorelli, Tommaso Schirinzi, Deborah A Sival, Dagmar Timmann, Stefan Vielhaber, Michael Wallner, Bart P van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Rebecca Schüle, Ludger Schöls, PREPARE Consortium; Matthis Synofzik
22. June 2021 (STOP-FSGS)
Super-resolved local recruitment of CLDN5 to filtration slits implicates a direct relationship with podocyte foot process effacement

J Cell Mol Med. 2021 Jun 22. >>PubMed-Link<<

Florian Tesch, Florian Siegerist, Eleonora Hay, Nadine Artelt, Christoph Daniel, Kerstin Amann, Uwe Zimmermann, Panagiotis Kavvadas, Olaf Grisk, Christos Chadjichristos, Karlhans Endlich, Christos Chatziantoniou, Nicole Endlich
22. June 2021 (TreatHSP.net)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Brain. 2021 Jun 22. >>PubMed-Link<<

Manuela Wiessner, Reza Maroofian , Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Genomics England Research Consortium, PREPARE network; Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
18. June 2021 (GAIN)
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

Sci Immunol. 2021 Jun 18. >>PubMed-Link<<

Thomas Magg, Tsubasa Okano, Lars M Koenig, Daniel F R Boehmer, Samantha L Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M Ferdman, Andrés Caballero-Oteyza, Esther N Park, Brenda M Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L Conn, Kathleen E Sullivan, Christoph Klein, Tomohiro Morio, Fabian Hauck
18. June 2021 (GAIN)
There is no gene for CVID — novel monogenetic causes

Curr Opin Immunol. 2021 Jun 18. >>PubMed-Link<<

Neftali J Ramirez, Sara Posadas-Cantera, Andrés Caballero-Oteyza, Nadezhda Camacho-Ordonez, Bodo Grimbacher
16. June 2021 (GeNeRARe)
Spotlight on Accessory Proteins: RTK-RAS-MAPK Modulators as New Therapeutic Targets

Biomolecules. 2021 Jun. >>PubMed-Link<<

Silke Pudewell and Mohammad Reza Ahmadian
8. June 2021 (GAIN)
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency

Lanz Clin Immunol. 2021 Jun 8. >>PubMed-Link<<

Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, Rohlfs M, Ley-Zaporozhan J, Walz C, Kotlarz D, Klein C, Albert MH, Hauck F
7. June 2021 (GAIN)
Therapeutic options for CTLA-4 Insufficiency

J Allergy Clin Immunol. 2021 Jun 7. >>PubMed-Link<<

Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari M-E, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Yesim Kucuk Z, Chapdelaine H, Petruzelkova L, Lorenz H-M, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim Y-J, Bakhtiar S, Atschekzei F, Schmidt RE, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B.
2. June 2021 (MitoNet)
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

Commun Biol. 2021 Jun 2 [Epub ahead of print] >>PubMed-Link<<

Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
2. June 2021 (GAIN)
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency

J Clin Immunol. 2021 Jun 2. >>PubMed-Link<<

Raedler J, Magg T, Rohlfs M, Klein C, Vallée T, Hauck F, Albert MH
1. June 2021 (HiChol)
Diagnosis and management of secondary causes of steatohepatitis

J Hepatol. 2021 Jun. >>PubMed-Link<<

Roman Liebe, Irene Esposito, Hans H Bock, Stephan Vom Dahl, Jan Stindt, Ulrich Baumann, Tom Luedde, Verena Keitel
Details
1. June 2021 (MitoNet)
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

Front Mol Biosci. 2021 Jun 1. >>PubMed-Link<<

Schlieben, L. D., Prokisch, H., Yepez, V. A.
1. June 2021 (STOP-FSGS)
Pro-cachectic factors link experimental and human chronic kidney disease to skeletal muscle wasting programs

J Clin Invest. 2021 Jun 1. >>PubMed-Link<<

Solagna, Francesca; Tezze, Caterina; Lindenmeyer, Maja T.; Lu, Shun; Wu, Guochao; Liu, Shuya; Zhao,Yu; Mitchell, Robert; Meyer, Charlotte; Omairi, Saleh; Kilic, Temel; Paolini, Andrea; Ritvos, Olli; Pasternack, Arja; Matsakas, Antonios; Kylies, Dominik; Schulze Zur Wiesch, Julian; Turner, Jan-Eric; Wanner, Nicola; Nair, Viji; Eichinger, Felix; Menon, Rajasree; Martin, Ina V; Klinkhammer, Barbara M; Hoxha, Elion; Cohen, Clemens D; Tharaux, Pierre-Louis; Boor, Peter; Ostendorf, Tammo; Kretzler, Matthias; Sandri, Marco; Kretz, Oliver; Puelles, Victor G; Patel, Ketan; Huber, Tobias B
Details
1. June 2021 (STOP-FSGS)
A multicenter blinded preclinical randomized controlled trial on Jak1/2 inhibition in MRL/MpJ-Fas(lpr) mice with proliferative lupus nephritis predicts low effect size

Kidney International. 2021 Jun. >>PubMed-Link<<

Lei, Yutian; Sehnert, Bettina; Voll, Reinhard E.; Jacobs-Cacha, Conxita; Jose Soler, Maria; et al
1. June 2021 (MitoNet)
Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes

Physiol Rep. 2021 Jun. >>PubMed-Link<<

Daniela Schranner, Martin Schönfelder, Werner Römisch-Margl, Johannes Scherr, Jürgen Schlegel, Otto Zelger, Annett Riermeier, Stephanie Kaps, Cornelia Prehn, Jerzy Adamski, Quirin Söhnlein, Fabian Stöcker, Florian Kreuzpointner, Martin Halle, Gabi Kastenmüller, Henning Wackerhage
31. May 2021 (MyPred)
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies

Fam Cancer. 2021 May 31. >>PubMed-Link<<

Brigitte Schlegelberger, Cristina Mecucci, Marcin Wlodarski
31. May 2021 (GAIN)
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32

Cell Mol Immunol. 2021 May 31. >>PubMed-Link<<

Lehmkuhl P, Gentz M, Caballero Garcia de Otezya A, Grimbacher B, Schulze-Koops H, Skapenko A
24. May 2021 (MitoNet)
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

Frontiers In Neurology. May 24. >>PubMed-Link<<

Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Biousse, Valerie; Moster, Mark L.; et al.
21. May 2021 (GAIN)
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction

Nucleic Acids Res. 2021 May 21.[Epub ahead of print] >>PubMed-Link<<

Francesc Català-Moll, Anna G Ferreté-Bonastre, Tianlu Li, Dieter Weichenhan, Pavlo Lutsik, Laura Ciudad, Ángel F Álvarez-Prado, Javier Rodríguez-Ubreva, Christian Klemann, Carsten Speckmann, Amaya Vilas-Zornoza, Hassan Abolhassani, Mónica Martínez-Gallo, Romina Dieli-Crimi, Jacques G Rivière, Andrea Martín-Nalda, Roger Colobran, Pere Soler-Palacín, Sven Kracker, Lennart Hammarström, Felipe Prosper, Anne Durandy, Bodo Grimbacher, Christoph Plass, Esteban Ballestar
16. May 2021 (STOP-FSGS)
SARS-CoV-2 RNA screening in routine pathology specimens

Microb Biotechnol. 2021 May 16. >>PubMed-Link<<

Saskia von Stillfried, Sophia Villwock, Roman D Bülow, Sonja Djudjaj, Eva M Buhl, Angela Maurer, Nadina Ortiz-Brüchle, Peter Celec, Barbara M Klinkhammer, Dickson W L Wong, Claudio Cacchi, Till Braunschweig, Ruth Knüchel-Clarke, Edgar Dahl, Peter Boor
14. May 2021 (GeNeRARe)
Early life adversity targets the transcriptional signature of hippocampal NG2+ glia and affects voltage gated sodium (Na v) channels properties

Neurobiol Stress. 2021 May 14. >>PubMed-Link<<

Giulia Treccani, Hatice Yigit, Thomas Lingner, Vanessa Schleuβner, Franziska Mey, Michael A van der Kooij, Malin Wennström, David P Herzog, Matthias Linke, Markus Fricke, Michael J Schmeisser, Gregers Wegener, Thomas Mittmann, Jacqueline Trotter, Marianne B Müller
11. May 2021 (ADDRess)
Posttransplantation MRD monitoring in patients with AML by next-generation sequencing using DTA and non-DTA mutations

Blood Adv. 2021 May 11.[Epub ahead of print] >>PubMed-Link<<

Michael Heuser, Bennet Heida, Konstantin Büttner, Clara Philine Wienecke, Katrin Teich, Carolin Funke, Maximilian Brandes, Piroska Klement, Alessandro Liebich, Martin Wichmann, Blerina Neziri, Anuhar Chaturvedi, Arnold Kloos, Konstantinos Mintzas, Verena I Gaidzik, Peter Paschka, Lars Bullinger, Walter Fiedler, Albert Heim, Wolfram Puppe, Jürgen Krauter, Konstanze Döhner, Hartmut Döhner, Arnold Ganser, Michael Stadler, Lothar Hambach, Razif Gabdoulline, Felicitas Thol
10. May 2021 (TreatHSP.net)
Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Eur J Hum Genet. 2021 May 10. >>PubMed-Link<<

Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND; Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD Consortium
10. May 2021 (TreatHSP.net)
Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia

Front Mol Biosci. 2021 May 10. >>PubMed-Link<<

Nimesha Tadepalle, Elena I Rugarli
6. May 2021 (MyPred)
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia

Cell Stem Cell. 2021 May 6.[Epub ahead of print] >>PubMed-Link<<

Benjamin Dannenmann, Maksim Klimiankou, Benedikt Oswald, Anna Solovyeva, Jehan Mardan, Masoud Nasri, Malte Ritter, Azadeh Zahabi, Patricia Arreba-Tutusaus, Perihan Mir, Frederic Stein, Siarhei Kandabarau, Nico Lachmann, Thomas Moritz, Tatsuya Morishima, Martina Konantz, Claudia Lengerke, Tim Ripperger, Doris Steinemann, Miriam Erlacher, Charlotte M Niemeyer, Cornelia Zeidler, Karl Welte, Julia Skokowa
3. May 2021 (STOP-FSGS)
Crumbs2 Is an Essential Slit Diaphragm Protein of the Renal Filtration Barrier

J Am Soc Nephrol. 2021 May 3. >>PubMed-Link<<

Annika Möller-Kerutt, Juan E Rodriguez-Gatica, Karin Wacker, Rohan Bhatia, Jan-Peter Siebrasse, Nanda Boon, Veerle Van Marck, Peter Boor, Ulrich Kubitscheck, Jan Wijnholds, Hermann Pavenstädt, Thomas Weide
1. May 2021 (ADDRess)
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome

Leukemia. 2021 May. >>PubMed-Link<<

Greta Winter, Renate Kirschner-Schwabe, Stefanie Groeneveld-Krentz, Gabriele Escherich, Anja Möricke, Arend von Stackelberg, Martin Stanulla, Simon Bailey, Lisa Richter, Doris Steinemann, Tim Ripperger, Adela Escudero, Roula Farah, Olli Lohi, Karin Wadt, Marjolijn Jongmans, Nienke van Engelen, Cornelia Eckert, Christian Peter Kratz

joint publication ADDRess/MyPred
1. May 2021 (MyPred)
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome

Leukemia. 2021 May. >>PubMed-Link<<

Greta Winter, Renate Kirschner-Schwabe, Stefanie Groeneveld-Krentz, Gabriele Escherich, Anja Möricke, Arend von Stackelberg, Martin Stanulla, Simon Bailey, Lisa Richter, Doris Steinemann, Tim Ripperger, Adela Escudero, Roula Farah, Olli Lohi, Karin Wadt, Marjolijn Jongmans, Nienke van Engelen, Cornelia Eckert, Christian Peter Kratz

joint publication ADDRess/MyPred
1. May 2021 (STOP-FSGS)
The role of filamins in mechanically stressed podocytes

Faseb Journal. 2021 May. >>PubMed-Link<<

Greiten, Jonas K.; Kliewe, Felix; Schnarre, Annabel; Artelt, Nadine; Schroeder, Sindy; Rogge Henrik, Amann, Kerstin; Daniel, Christoph; Lindenmeyer, Maja TL; Cohen, Clemens D; Endlich, Karlhans; Endlich, Nicole
1. May 2021 (STOP-FSGS)
The Actin-Binding Protein α-Adducin Modulates Desmosomal Turnover and Plasticity

J Invest Dermatol. 2021 May. >>PubMed-Link<<

Matthias Hiermaier, Felix Kliewe, Camilla Schinner, Chiara Stüdle, I Piotr Maly, Marie-Therès Wanuske, Vera Rötzer, Nicole Endlich, Franziska Vielmuth, Jens Waschke, Volker Spindler
28. April 2021 (GeNeRARe)
A comprehensive analysis of RAS-effector interactions reveals interaction hotspots and new binding partners

J Biol Chem. Jan-Jun 2021. >>PubMed-Link<<

Soheila Rezaei Adariani, Neda S Kazemein Jasemi, Farhad Bazgir, Christoph Wittich, Ehsan Amin, Claus A M Seidel, Radovan Dvorsky, Mohammad R Ahmadian
27. April 2021 (GAIN)
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage

Front Immunol. 2021 Apr 27. >>PubMed-Link<<

Manfred Fliegauf, Renate Krüger, Sophie Steiner, Leif Gunnar Hanitsch, Sarah Büchel, Volker Wahn, Horst von Bernuth, Bodo Grimbacher
23. April 2021 (Treat-ION)
Präzisionsmedizin in der Epileptologie – wie weit sind wir wirklich?

Zeitschrift für Epileptologie. 2021 Apr 23.

Holger Lerche
19. April 2021 (GAIN)
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes

Biomed J. 2021 Apr 19. >>PubMed-Link<<

Laura Gámez-Díaz, Bodo Grimbacher
17. April 2021 (GeNeRARe)
Aβ1-16 controls synaptic vesicle pools at excitatory synapses via cholinergic modulation of synapsin phosphorylation

Cell Mol Life Sci. 2021 Apr 17. >>PubMed-Link<<

Daniela Anni, Eva-Maria Weiss, Debarpan Guhathakurta, Yagiz Enes Akdas, Julia Klueva, Stefanie Zeitler, Maria Andres-Alonso, Tobias Huth, Anna Fejtova
16. April 2021 (STOP-FSGS)
Effects of Environmental Conditions on Nephron Number: Modeling Maternal Disease and Epigenetic Regulation in Renal Development

Int J Mol Sci. 2021 Apr 16. >>PubMed-Link<<

Lars Fuhrmann, Saskia Lindner, Alexander-Thomas Hauser, Clemens Höse, Oliver Kretz, Clemens D Cohen, Maja T Lindenmeyer, Wolfgang Sippl, Manfred Jung, Tobias B Huber, Nicola Wanner
8. April 2021 (GeNeRARe)
Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line

Communications Biology. 2021 Jun 8. >>PubMed-Link<<

Pudewell, Silke; Wittich, Christoph; Jasemi, Neda S. Kazemein; Bazgir, Farhad; Ahmadian, Mohammad R.
8. April 2021 (STOP-FSGS)
Deep learning-based molecular morphometrics for kidney biopsies

JCI Insight. 2021 Apr 8. >>PubMed-Link<<

Marina Zimmermann, Martin Klaus, Milagros N Wong, Ann-Katrin Thebille, Lukas Gernhold, Christoph Kuppe, Maurice Halder, Jennifer Kranz, Nicola Wanner, Fabian Braun, Sonia Wulf, Thorsten Wiech, Ulf Panzer, Christian F Krebs, Elion Hoxha, Rafael Kramann, Tobias B Huber, Stefan Bonn, Victor G Puelles
5. April 2021 (TreatHSP.net)
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

Ann Clin Transl Neurol. 2021 Apr 5. >>PubMed-Link<<

Christoph Kessler, Lina M Serna-Higuita, Tim W Rattay, Walter Maetzler, Isabel Wurster, Stefanie Hayer, Carlo Wilke, Holger Hengel, Jennifer Reichbauer, Marcel Armbruster, Ludger Schöls, Peter Martus, Rebecca Schüle
1. April 2021 (GAIN)
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Nat Genet. 2021 Apr. >>PubMed-Link<<

Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, Xiya Cao, Daniel Mayr, Meera Mehta, Melania Capitani, Neil Warner, Jie Pan, Liren Wang, Qi Li, Tao Zuo, Sarit Cohen-Kedar, Jiawei Lu, Rico Chandra Ardy, Daniel J Mulder, Dilan Dissanayake, Kaiyue Peng, Zhiheng Huang, Xiaoqin Li, Yuesheng Wang, Xiaobing Wang, Shuchao Li, Samuel Bullers, Anís N Gammage, Klaus Warnatz, Ana-Iris Schiefer, Gergely Krivan, Vera Goda, Walter H A Kahr, Mathieu Lemaire, Genomics England Research Consortium; Chien-Yi Lu, Iram Siddiqui, Michael G Surette, Daniel Kotlarz, Karin R Engelhardt, Helen R Griffin, Robert Rottapel, Hélène Decaluwe, Ronald M Laxer, Michele Proietti, Sophie Hambleton, Suzanne Elcombe, Cong-Hui Guo, Bodo Grimbacher, Iris Dotan, Siew C Ng, Spencer A Freeman, Scott B Snapper, Christoph Klein, Kaan Boztug, Ying Huang, Dali Li, Holm H Uhlig, Aleixo M Muise
Details
1. April 2021 (GAIN)
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

Cell Mol Immunol. 2021 Apr 1. >>PubMed-Link<<

Georgios Sogkas, Faranaz Atschekzei, Ignatius Ryan Adriawan, Natalia Dubrowinskaja, Torsten Witte, Reinhold Ernst Schmidt
1. April 2021 (Treat-ION)
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study

EBioMedicine. 2021 Apr. >>PubMed-Link<<

Sana Amanat, Alvaro Gallego-Martinez, Joseph Sollini, Patricia Perez-Carpena, Juan M Espinosa-Sanchez, Ismael Aran, Andres Soto-Varela, Angel Batuecas-Caletrio, Barbara Canlon, Patrick May, Christopher R Cederroth, Jose A Lopez-Escamez
26. March 2021 (NEOCYST)
Collagen IV alpha 345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases

J Biol Chem. Jan-Jun 2021. >>PubMed-Link<<

Pokidysheva, E. N., Seeger, H., Pedchenko, V., Chetyrkin, S., Bergmann, C., Abrahamson, D., Cui, Z. W., Delpire, E., Fervenza, F. C., Fidler, A. L., Fogo, A. B., Gaspert, A., Grohmann, M., Gross, O., Haddad, G., Harris, . C., Kashtan, C., Kitching, A. R., Lorenzen, J. M., McAdoo, S., Pusey, C. D., Segelmark, M., Simmons, A., Voziyan, P. A., Wagner, T., Wuthrich, R. P., Zhao, M. H., Boudko, S. P., Kistler, A. D., Hudson, B. G.
24. March 2021 (GAIN)
Immunogenicity and safety of anti-SARS-CoV-2 mRNA vaccines in patients with chronic inflammatory conditions and immunosuppressive therapy in a monocentric cohort

Ann Rheum Dis. 2021 Mar 24. >>PubMed-Link<<

Ulf M Geisen, Dennis K Berner, Florian Tran, Melike Sümbül, Lena Vullriede, Maria Ciripoi, Hayley M Reid, Annika Schaffarzyk, Ann C Longardt, Jeanette Franzenburg, Paula Hoff, Jan H Schirmer, Rainald Zeuner, Anette Friedrichs, Andrea Steinbach, Christine Knies, Robert Dh Markewitz, Peter J Morrison, Sascha Gerdes, Stefan Schreiber, Bimba F Hoyer
Details
23. March 2021 (STOP-FSGS)
JNK signaling prevents biliary cyst formation through a CASPASE-8-dependent function of RIPK1 during aging

Proc Natl Acad Sci U S A. 2021 Mar 23. >>PubMed-Link<<

Katrin Müller, Hanna Honcharova-Biletska, Christiane Koppe, Michèle Egger, Lap Kwan Chan, Anne T Schneider, Lena Küsgens, Friederike Böhm, Yannick Boege, Marc E Healy, Johannes Schmitt, Sarah Comtesse, Mirco Castoldi, Christian Preisinger, Marta Szydlowska, Enrico Focaccia, Nadine T Gaisa, Sven H Loosen, Simone Jörs, Frank Tacke, Christoph Roderburg, Verena Keitel, Johannes G Bode, Peter Boor, Roger J Davis, Thomas Longerich, Fabian Geisler, Mathias Heikenwalder, Achim Weber, Mihael Vucur, Tom Luedde
20. March 2021 (GAIN)
Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype

Biomed J. 2021 Mar 20. >>PubMed-Link<<

Laura Faletti, Stephan Ehl, Maximilian Heeg
11. March 2021 (MitoNet)
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

Orphanet J Rare Dis. 2021 Mar 11. >>PubMed-Link<<

Andrea Rabenstein, Claudia B Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther, Thomas Klopstock
7. March 2021 (NEOCYST)
The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

Pediatr Nephrol. 2021 Mar 7. >>PubMed-Link<<

Charlotte Gimpel, Carsten Bergmann, Djalila Mekahli
3. March 2021 (MitoNet)
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Brain. 2021 Mar 3. >>PubMed-Link<<

Korbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, Maren Wenzel, Burkhard Adis-Dutschmann, Uwe Ahting, Bader Alhaddad, Astrid Blaschek, Tobias B Haack, Robert Kopajtich, Jessica Lee, Victor Murcia Pienkowski, Agnieszka Pollak, Krystyna Szymanska, Maja Tarailo-Graovac, Robin van der Lee, Clara D van Karnebeek, Thomas Meitinger, Ingeborg Krägeloh-Mann, Katharina Vill
2. March 2021 (ADDRess)
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire

Fam Cancer. 2021 Mar. >>PubMed-Link<<

Miriam Schwermer, Astrid Behnert, Beate Dörgeloh, Tim Ripperger, Christian P Kratz

joint publication ADDRess/MyPred
2. March 2021 (MitoNet)
Genetic basis of mitochondrial diseases

FEBS Lett. 2021 Mar 2. >>PubMed-Link<<

Mirjana Gusic, Holger Prokisch
2. March 2021 (CONNECT-GENERATE)
Cross-reactivity of a pathogenic autoantibody to a tumor antigen in GABA(A) receptor encephalitis

Proc Natl Acad Sci U S A. 2021 Mar 2. >>PubMed-Link<<

Simone M Brändle, Manuela Cerina, Susanne Weber, Kathrin Held, Amélie F Menke, Carmen Alcalá, David Gebert, Alexander M Herrmann, Hannah Pellkofer, Lisa Ann Gerdes, Stefan Bittner, Frank Leypoldt, Bianca Teegen, Lars Komorowski, Tania Kümpfel, Reinhard Hohlfeld, Sven G Meuth, Bonaventura Casanova, Nico Melzer, Eduardo Beltrán, Klaus Dornmair
2. March 2021 (MyPred)
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire

Fam Cancer. 2021 Mar. >>PubMed-Link<<

Miriam Schwermer, Astrid Behnert, Beate Dörgeloh, Tim Ripperger, Christian P Kratz

joint publication ADDRess/MyPred
1. March 2021 (STOP-FSGS)
SRGAP1 Controls Small Rho GTPases To Regulate Podocyte Foot Process Maintenance

J Am Soc Nephrol. 2021 Mar. >>PubMed-Link<<

Manuel Rogg, Jasmin I Maier, Robert Dotzauer, Nadine Artelt, Oliver Kretz, Martin Helmstädter, Ahmed Abed, Alena Sammarco, August Sigle, Dominik Sellung, Patrick Dinse, Karoline Reiche, Mako Yasuda-Yamahara, Martin L Biniossek, Gerd Walz, Martin Werner, Nicole Endlich, Oliver Schilling, Tobias B Huber, Christoph Schell
1. March 2021 (CONNECT-GENERATE)
High frequency of cerebrospinal fluid autoantibodies in COVID-19 patients with neurological symptoms

Brain Behav Immun. 2021 Mar. >>PubMed-Link<<

Christiana Franke, Caroline Ferse, Jakob Kreye, S Momsen Reincke, Elisa Sanchez-Sendin, Andrea Rocco, Mirja Steinbrenner, Stefan Angermair, Sascha Treskatsch, Daniel Zickler, Kai-Uwe Eckardt, Rick Dersch, Jonas Hosp, Heinrich J Audebert, Matthias Endres, J Christoph Ploner, Harald Prüß
1. March 2021 (STOP-FSGS)
Deep learning detects genetic alterations in cancer histology generated by adversarial networks

J Pathol. 2021 Feb 9. >>PubMed-Link<<

Jeremias Krause, Heike I Grabsch, Matthias Kloor, Michael Jendrusch, Amelie Echle, Roman David Buelow, Peter Boor, Tom Luedde, Titus J Brinker, Christian Trautwein, Alexander T Pearson, Philip Quirke, Josien Jenniskens, Kelly Offermans, Piet A van den Brandt, Jakob Nikolas Kather
1. March 2021 (MitoNet)
Plasma metabolites to profile pathways in noncommunicable disease multimorbidity

Nat Med. 2021 Mar. >>PubMed-Link<<

Maik Pietzner, Isobel D Stewart, Johannes Raffler, Kay-Tee Khaw, Gregory A Michelotti, Gabi Kastenmüller, Nicholas J Wareham, Claudia Langenberg
1. March 2021 (GeNeRARe)
Senescence in RASopathies, a possible novel contributor to a complex pathophenoype

Mech Ageing Dev. 2021 Mar. >>PubMed-Link<<

Melanie Engler, Miray Fidan, Sayantan Nandi, Ion Cristian Cirstea
27. February 2021 (GAIN)
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency

J Clin Immunol. 2021 Feb 27. >>PubMed-Link<<

Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Sebastian A Schroeder, Giancarlo la Marca, Michael H Albert, Fabian Hauck
26. February 2021 (MitoNet)
The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

Ther Adv Neurol Disord. 2021 Feb 26. >>PubMed-Link<<

Diana Lehmann Urban, Mohamed Mohamed, Albert C Ludolph, Jan Kassubek, Angela Rosenbohm
25. February 2021 (STOP-FSGS)
Novel diagnostic and therapeutic techniques reveal changed metabolic profiles in recurrent focal segmental glomerulosclerosis

Sci Rep. 2021 Feb 25. >>PubMed-Link<<

Janina Müller-Deile, George Sarau, Ahmed M Kotb, Christian Jaremenko, Ulrike E Rolle-Kampczyk, Christoph Daniel, Stefan Kalkhof, Silke H Christiansen, Mario Schiffer
25. February 2021 (STOP-FSGS)
Surprising Hyperkalemia of 10.2 mmol/L in a Patient with Hyperglycemia: A Case Report

Case Rep Nephrol Dial. 2021 Feb 25.[Epub ahead of print] >>PubMed-Link<<

Jan Czogalla, Pischtaz Adel Tariparast, Tobias B Huber, Matthias Janneck, Florian Grahammer
19. February 2021 (STOP-FSGS)
A muscle growth-promoting treatment based on the attenuation of activin/myostatin signalling results in long-term testicular abnormalities

Dis Model Mech. 2021 Feb 19. >>PubMed-Link<<

Danielle Vaughan, Robert Mitchell, Oliver Kretz, David Chambers, Maciej Lalowski, Helge Amthor, Olli Ritvos, Arja Pasternack, Antonios Matsakas, Sakthivel Vaiyapuri, Tobias B Huber, Bernd Denecke, Abir Mukherjee, Darius Widera, Ketan Patel
17. February 2021 (GAIN)
What can clinical immunology learn from inborn errors of epigenetic regulators?

J Allergy Clin Immunol. 2021 Feb 17. >>PubMed-Link<<

Nadezhda Camacho-Ordonez, Esteban Ballestar, H Th Marc Timmers, Bodo Grimbacher
14. February 2021 (MitoNet)
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines

J Pathol. 2021 Feb 14. >>PubMed-Link<<

Charlotte L Alston, Sarah L Stenton, Gavin Hudson, Holger Prokisch, Robert W Taylor
12. February 2021 (NEOCYST)
Targeted deletion of Ruvbl1 results in severe defects of epidermal development and perinatal mortality

Mol Cell Pediatr. 2021 Feb 12. >>PubMed-Link<<

Claudia Dafinger, Thomas Benzing, Jörg Dötsch, Bernhard Schermer, Max C Liebau
4. February 2021 (MitoNet)
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

Orphanet J Rare Dis. 2021 Feb 4. >>PubMed-Link<<
Marie‑Christine Reinert, David Pacheu‑Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling, Knut Brockmann
1. February 2021 (MyPred)
Nicotinamide (vitamin B3) treatment improves response to G-CSF in severe congenital neutropenia patients

Br J Haematol. 2021 Feb. >>PubMed-Link<<

Ekaterina Deordieva, Oksana Shvets, Kirill Voronin, Alexei Maschan, Karl Welte, Julia Skokowa, Galina Novichkova, Anna Shcherbina
1. February 2021 (ADDRess)
Predisposition to cancer in children and adolescents

Lancet Child Adolesc Health. 2021 Feb. >>PubMed-Link<<

Christian P Kratz, Marjolijn C Jongmans, Hélène Cavé, Katharina Wimmer, Sam Behjati, Lea Guerrini-Rousseau, Till Milde, Kristian W Pajtler, Lisa Golmard, Marion Gauthier-Villars, Rosalyn Jewell, Catriona Duncan, Eamonn R Maher, Laurence Brugieres, Kathy Pritchard-Jones, Franck Bourdeaut
29. January 2021 (CONNECT-GENERATE)
Common Denominators in the Immunobiology of IgG4 Autoimmune Diseases: What Do Glomerulonephritis, Pemphigus Vulgaris, Myasthenia Gravis, Thrombotic Thrombocytopenic Purpura and Autoimmune Encephalitis Have in Common?

Front Immunol. 2021 Jan 29. >>PubMed-Link<<

Inga Koneczny, Vuslat Yilmaz, Konstantinos Lazaridis, John Tzartos, Tobias L Lenz, Socrates Tzartos, Erdem Tüzün, Frank Leypoldt
28. January 2021 (MyPred)
Germline variants drive myelodysplastic syndrome in young adults

Leukemia. 2021 Jan 28. >>PubMed-Link<<

Simone Feurstein, Jane E Churpek, Tom Walsh, Sioban Keel, Marja Hakkarainen, Thomas Schroeder, Ulrich Germing, Stefanie Geyh, Michael Heuser, Felicitas Thol, Christian Pohlkamp, Torsten Haferlach, Juehua Gao, Carolyn Owen, Gudrun Goehring, Brigitte Schlegelberger, Divij Verma, Daniela S Krause, Guimin Gao, Tara Cronin, Suleyman Gulsuner, Ming Lee, Colin C Pritchard, Hari Prasanna Subramanian, Daniela Del Gaudio, Zejuan Li, Soma Das, Outi Kilpivaara, Ulla Wartiovaara-Kautto, Eunice S Wang, Elizabeth A Griffiths, Konstanze Döhner, Hartmut Döhner, Mary-Claire King, Lucy A Godley

joint publication ADDRess/MyPred
28. January 2021 (ADDRess)
Germline variants drive myelodysplastic syndrome in young adults

Leukemia. 2021 Jan 28. >>PubMed-Link<<

Simone Feurstein, Jane E Churpek, Tom Walsh, Sioban Keel, Marja Hakkarainen, Thomas Schroeder, Ulrich Germing, Stefanie Geyh, Michael Heuser, Felicitas Thol, Christian Pohlkamp, Torsten Haferlach, Juehua Gao, Carolyn Owen, Gudrun Goehring, Brigitte Schlegelberger, Divij Verma, Daniela S Krause, Guimin Gao, Tara Cronin, Suleyman Gulsuner, Ming Lee, Colin C Pritchard, Hari Prasanna Subramanian, Daniela Del Gaudio, Zejuan Li, Soma Das, Outi Kilpivaara, Ulla Wartiovaara-Kautto, Eunice S Wang, Elizabeth A Griffiths, Konstanze Döhner, Hartmut Döhner, Mary-Claire King, Lucy A Godley

joint publication ADDRess/MyPred
22. January 2021 (MitoNet)
Detection of aberrant splicing events in RNA-seq data using FRASER

Nat Commun. 2021 Jan 22. >>PubMed-Link<<

Christian Mertes, Ines F Scheller, Vicente A Yépez, Muhammed H Çelik, Yingjiqiong Liang, Laura S Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
19. January 2021 (MitoNet)
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

J Clin Invest. 2021 Jan 19. >>PubMed-Link<<

Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, Natalia Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor O Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, Sylvie Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Heon, Yulia S Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Reka Kovacs-Nagy, Tatiana Krylova, Wolfram S Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro F Malacarne, Alessandra Maresca, Johannes A Mayr, Jana Meisterknecht, Tatiana Nevinitsyna, Flavia Palombo, Ben Pode-Shakked, Maria S Shmelkova, Tim M Strom, Francesca Tagliavini, Michal Tzadok, Amelie T van der Ven, Catherine Vignal-Clermont, Matias Wagner, Ekaterina Zakharova, Nino Zhorzholadze, Jen-Michel Rozet, Valerio Carelli, Polina Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch
18. January 2021 (MitoNet)
Detection of aberrant gene expression events in RNA sequencing data

Nat Protoc. 2021 Jan 18. >>PubMed-Link<<

Vicente A Yépez, Christian Mertes, Michaela F Müller, Daniela Klaproth-Andrade, Leonhard Wachutka, Laure Frésard, Mirjana Gusic, Ines F Scheller, Patricia F Goldberg, Holger Prokisch, Julien Gagneur
13. January 2021 (CONNECT-GENERATE)
Decreased inflammatory cytokine production of antigen-specific CD4(+) T cells in NMDA receptor encephalitis

J Neuro. 2021 Jan 13. >>PubMed-Link<<

Le-Minh Dao, Marie-Luise Machule, Petra Bacher, Julius Hoffmann, Lam-Thanh Ly, Florian Wegner, Alexander Scheffold, Harald Prüss
12. January 2021 (MitoNet)
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

Ophtalmology. 2021 Jan 12. >>PubMed-Link<<

Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark L Moster, Valerie Biousse, Catherine Vignal-Clermont, Robert C Sergott, Thomas Klopstock, Alfredo A Sadun, Piero Barboni, Adam A DeBusk, Jean François Girmens , Günther Rudolph, Rustum Karanjia, Magali Taiel, Laure Blouin, Gerard Smits, Barrett Katz, José-Alain Sahel, LHON Study Group
1. January 2021 (GAIN)
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies

Transplant Cell Ther. 2021 Jan. >>PubMed-Link<<

Manfred Hoenig, Joachim Roesler, Markus G Seidel, Michael H Albert, Fabian Hauck, Britta Maecker-Kolhoff, Britta Eiz-Vesper, Katharina Kleinschmidt, Klaus-Michael Debatin, Eva-Maria Jacobsen, Ingrid Furlan, Meinolf Suttorp, Catharina Schuetz, Ansgar S Schulz
1. January 2021 (STOP-FSGS)
Consistent alteration of chain length-specific ceramides in human and mouse fibrotic kidneys

Biochim Biophys Acta Mol Cell Biol Lipids. 2021 Jan. >>PubMed-Link<<

Timon Eckes, Sandra Trautmann, Sonja Djudjaj, Sandra Beyer, Sammy Patyna, Stephanie Schwalm, Stefan Gauer, Dominique Thomas, Liliana Schaefer, Peter Boor, Alexander Koch, Josef Pfeilschifter
1. January 2021 (MyPred)
International Consensus Definition of DNA Methylation Subgroups in Juvenile Myelomonocytic Leukemia

Clin Cancer Res. 2021 Jan 1. >>PubMed-Link<<

Maximilian Schönung, Julia Meyer, Peter Nöllke, Adam B Olshen, Mark Hartmann, Norihiro Murakami, Manabu Wakamatsu, Yusuke Okuno, Christoph Plass, Mignon L Loh, Charlotte M Niemeyer, Hideki Muramatsu, Christian Flotho, Elliot Stieglitz, Daniel B Lipka
Details
1. January 2021 (STOP-FSGS)
Deep Learning-Based Segmentation and Quantification in Experimental Kidney Histopathology

J Am Soc Nephrol. 2021 Jan. >>PubMed-Link<<

Nassim Bouteldja, Barbara M Klinkhammer, Roman D Bülow, Patrick Droste, Simon W Otten, Saskia Freifrau von Stillfried, Julia Moellmann, Susan M Sheehan, Ron Korstanje, Sylvia Menzel, Peter Bankhead, Matthias Mietsch, Charis Drummer, Michael Lehrke, Rafael Kramann, Jürgen Floege, Peter Boor, Dorit Merhof
1. January 2021 (GeNeRARe)
Genetic influences of autism candidate genes on circuit wiring and olfactory decoding

Cell Tissue Res. 2021 Jan. >>PubMed-Link<<

Renée Hartig, David Wolf, Michael J Schmeisser, Wolfgang Kelsch
1. January 2021 (STOP-FSGS)
Multistain segmentation of renal histology: first steps toward artificial intelligence-augmented digital nephropathology

Kidney Int. 2021 Jan. >>PubMed-Link<<

Roman D Bülow, Jesper Kers, Peter Boor
1. January 2021 (MitoNet)
Mitochondrial Complexome Profiling

Methods Mol Biol. 2021. >>PubMed-Link<<

Heiko Giese, Jana Meisterknecht, Juliana Heidler, Ilka Wittig
31. December 2020 (CONNECT-GENERATE)
Autoimmune encephalitis: novel therapeutic targets at the preclinical level

Expert Opin Ther Targets. 2020 Dec 31;1-11 [Epub ahead of print] >>PubMed-Link<<

Josefine Sell, Holger Haselmann, Stefan Hallermann, Michael Hust, Christian Geis
21. December 2020 (MitoNet)
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Hum Mutat. 2020 Dec 21. [Epub ahead of print] >>PubMed-Link<<

Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Elżbieta Ciara, Johannes Eisen, Rafał Płoski, Ewa Pronicka, Katarzyna Malczyk, Matias Wagner, Saskia B Wortmann, Holger Prokisch
18. December 2020 (GeNeRARe)
Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders

J Mol Med. 2020 Dec 18. [Epub ahead of print] >>PubMed-Link<<

Liliana Rojas-Charry, Leonardo Nardi, Axel Methner, Michael J. Schmeisser
15. December 2020 (CONNECT-GENERATE)
Low-Avidity CD4 + T Cell Responses to SARS-CoV-2 in Unexposed Individuals and Humans with Severe COVID-19

Immunity. 2020 Dec 15 >>PubMed-Link<<

Petra Bacher, Elisa Rosati, Daniela Esser, Gabriela Rios Martini, Carina Saggau, Esther Schiminsky, Justina Dargvainiene, Ina Schröder, Imke Wieters, Yascha Khodamoradi, Fabian Eberhardt, Maria J G T Vehreschild, Holger Neb, Michael Sonntagbauer, Claudio Conrad, Florian Tran, Philip Rosenstiel, Robert Markewitz, Klaus-Peter Wandinger, Max Augustin, Jan Rybniker, Matthias Kochanek, Frank Leypoldt, Oliver A Cornely, Philipp Koehler, Andre Franke, Alexander Scheffold
9. December 2020 (MitoNet)
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

Sci Transl Med. 2020 Dec 9. [Epub ahead of print] >>PubMed-Link<<

Patrick Yu-Wai-Man, Nancy J Newman, Valerio Carelli, Mark L Moster, Valerie Biousse, Alfredo A Sadun, Thomas Klopstock, Catherine Vignal-Clermont, Robert C Sergott, Günther Rudolph, Chiara La Morgia, Rustum Karanjia, Magali Taiel, Laure Blouin, Pierre Burguière, Gerard Smits, Caroline Chevalier, Harvey Masonson, Yordak Salermo, Barrett Katz, Serge Picaud, David J Calkins, José-Alain Sahel
Details
7. December 2020 (GeNeRARe)
Aplasia cutis congenita in a CDC42-related developmental phenotype

Am J Med Genet A. 2020 Dec 7. [Epub ahead of print] >>PubMed-Link<<

Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, Silke Kaulfuß, Bernd Wollnik, Martin Zenker
4. December 2020 (STOP-FSGS)
Dynamics of salivary markers of kidney functions in acute and chronic kidney diseases

Sci Rep. 2020 Dec 4.[Epub ahead of print] >>PubMed-Link<<

Alexandra Gaál Kovalčíková, Kristína Pavlov, Róbert Lipták, Marianna Hladová, Emese Renczés, Peter Boor, Ľudmila Podracká, Katarína Šebeková, Július Hodosy, Ľubomíra Tóthová, Peter Celec
3. December 2020 (GAIN)
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Blood. 2020 Dec 3 >>PubMed-Link<<

Sujal Ghosh, Sevgi Köstel Bal, Emily S J Edwards, Bethany Pillay, Raúl Jiménez Heredia, Funda Erol Cipe , Geetha Rao , Elisabeth Salzer, Samaneh Zoghi, Hassan Abolhassani, Tooba Momen, Emma Gostick, David A Price, Yu Zhang, Andrew J Oler, Claudia Gonzaga-Jauregui, Baran Erman, Ayse Metin, Inci Ilhan, Sule Haskologlu, Candan Islamoglu, Kubra Baskin, Serdar Ceylaner, Ebru Yilmaz, Ekrem Unal, Musa Karakukcu, Dagmar Berghuis, Theresa Cole, Aditya K Gupta, Fabian Hauck, Hubert Kogler, Andy I M Hoepelman, Safa Baris, Elif Karakoc-Aydiner, Ahmet Ozen, Leo Kager, Dirk Holzinger, Michael Paulussen, Renate Krüger, Roland Meisel, Prasad T Oommen, Emma Morris, Benedicte Neven, Austen Worth, Joris van Montfrans, Pieter L A Fraaij, Sharon Choo, Figen Dogu, E Graham Davies, Siobhan Burns, Gregor Dückers, Ruy Perez Becker, Horst von Bernuth, Sylvain Latour, Maura Faraci, Marco Gattorno, Helen C Su, Qiang Pan-Hammarström, Lennart Hammarström, Michael J Lenardo, Cindy S Ma, Tim Niehues, Asghar Aghamohammadi, Nima Rezaei, Aydan Ikinciogullari, Stuart G Tangye, Arjan C Lankester, Kaan Boztug
1. December 2020 (STOP-FSGS)
A reciprocal regulation of spermidine and autophagy in podocytes maintains the filtration barrier

Kidney Int. 2020 Dec. Epub 2020 Jun 27. >>PubMed-Link<<

Wei Liang, Kosuke Yamahara, Camila Hernando-Erhard, Simon Lagies, Nicola Wanner, Huan Liang, Christoph Schell, Bernd Kammerer, Tobias B Huber, Tillmann Bork
1. December 2020 (TreatHSP.net)
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1

Stem Cell Research. 2020 Dec. >>PubMed-Link<<

Maike Nagela, Sandra Müßig Philip Höflinger, Ludger Schöls, Stefan Hauser, Rebecca Schüle
1. December 2020 (TreatHSP.net)
Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1

Stem Cell Research. 2020 Dec. >>PubMed-Link<<

Maike Nagela, Sandra Müßig Philip Höflinger, Ludger Schöls, Stefan Hauser, Rebecca Schüle
27. November 2020 (CONNECT-GENERATE)
Transdiagnostic hippocampal damage patterns in neuroimmunological disorders

Neuroimage Clin. 2020;28 Epub 2020 Nov 27. >>PubMed-Link<<

Josephine Heine, Harald Prüß, Michael Scheel, Alexander U. Brandt, Stefan M.Gold, Thorsten Bartsch, Friedemann Paul, Carsten Finke
26. November 2020 (MitoNet)
The Dimensions of Primary Mitochondrial Disorders

Front Cell Dev Biol. 2020 Nov 26. [Epub ahead of print] >>PubMed-Link<<

Lea D Schlieben, Holger Prokisch
22. November 2020 (MitoNet)
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

Mol Genet Metab Rep. 2020 Nov 22. >>PubMed-Link<<

Lara M Marten, Florian Brinkert, Desirée E C Smith, Holger Prokisch, Maja Hempel, René Santer
20. November 2020 (STOP-FSGS)
Vascular neutrophilic inflammation and immunothrombosis distinguish severe COVID-19 from influenza pneumonia

J Thromb Haemost. 2020 Nov 20 [Epub ahead of print] >>PubMed-Link<<

Leo Nicolai, Alexander Leunig, Sophia Brambs, Rainer Kaiser, Markus Joppich, Marie-Louise Hoffknecht, Christoph Gold, Anouk Engel, Vivien Polewka, Maximilian Muenchhoff, Johannes C Hellmuth, Adrian Ruhle, Stephan Ledderose, Tobias Weinberger, Heiko Schulz, Clemens Scherer, Martina Rudelius, Michael Zoller, Oliver T Keppler, Bernhard Zwißler, Michael von Bergwelt-Baildon, Stefan Kääb, Ralf Zimmer, Roman D Bülow, Saskia von Stillfried, Peter Boor, Steffen Massberg, Kami Pekayvaz, Konstantin Stark
13. November 2020 (STOP-FSGS)
Adriamycin does not damage podocytes of zebrafish larvae

PLoS One. 2020 Nov 13. [Epub ahead of print] >>PubMed-Link<<

Maximilian Schindler, Antje Blumenthal, Marcus Johannes Moeller, Karlhans Endlich, Nicole Endlich
12. November 2020 (CONNECT-GENERATE)
A Therapeutic Non-self-reactive SARS-CoV-2 Antibody Protects from Lung Pathology in a COVID-19 Hamster Model

Cell. 2020 Nov 12. [Epub ahead of print] >>PubMed-Link<<

Jakob Kreye, S Momsen Reincke, Hans-Christian Kornau, Elisa Sánchez-Sendin, Victor Max Corman, Hejun Liu, Meng Yuan, Nicholas C Wu, Xueyong Zhu, Chang-Chun D Lee, Jakob Trimpert, Markus Höltje, Kristina Dietert, Laura Stöffler, Niels von Wardenburg, Scott van Hoof, Marie A Homeyer, Julius Hoffmann, Azza Abdelgawad, Achim D Gruber, Luca D Bertzbach, Daria Vladimirova, Lucie Y Li, Paula Charlotte Barthel, Karl Skriner, Andreas C Hocke, Stefan Hippenstiel, Martin Witzenrath, Norbert Suttorp, Florian Kurth, Christiana Franke, Matthias Endres, Dietmar Schmitz, Lara Maria Jeworowski, Anja Richter, Marie Luisa Schmidt, Tatjana Schwarz, Marcel Alexander Müller, Christian Drosten, Daniel Wendisch, Leif E Sander, Nikolaus Osterrieder, Ian A Wilson, Harald Prüss
Details
12. November 2020 (NEOCYST)
Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Front Pediatr. 2020 Nov 12. [Epub ahead of print] >>PubMed-Link<<

Dorota Wicher, Ryszard Grenda, Mikołaj Teisseyre, Marek Szymczak, Paulina Halat-Wolska, Dorota Jurkiewicz, Max Christoph Liebau, Elżbieta Ciara, Małgorzata Rydzanicz, Joanna Kosińska, Krystyna Chrzanowska, Irena Jankowska
11. November 2020 (TreatHSP.net)
Intracellular A53T Mutant α-Synuclein Impairs Adult Hippocampal Newborn Neuron Integration

Front Cell Dev Biol. 2020 Nov 11. [Epub ahead of print] >>PubMed-Link<<

Martin Regensburger, Judith Stemick, Eliezer Masliah, Zacharias Kohl, Beate Winner
1. November 2020 (Treat-ION)
Drug-resistant epilepsy – time to target mechanisms

Nat Rev Neurol. 2020 Nov. >>PubMed-Link<<

Holger Lerche
1. November 2020 (MitoNet)
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

Eur J Med Genet. 2020 Nov. [Epub ahead of print] >>PubMed-Link<<

Sabine Illsinger, G Christoph Korenke, Sylvia Boesch, Michael Nocker, Daniela Karall, Jean M Nuoffer, Lucia Laugwitz, Johannes A Mayr, Sabine Scholl-Bürgi, Peter Freisinger, Tobias Kowald, Stefan Kölker, Holger Prokisch, Tobias B Haack
1. November 2020 (NEOCYST)
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Hum Mutat. 2020 Nov 1. [Epub ahead of print] >>PubMed-Link<<

Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M Larsen, Julia Wallmeier, Diana Bracht, Kari-Anne M Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann-Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian G Phelps, Nicholas Katsanis, Rachel Giles, Miriam Schmidts, Manuela Zucknick, Soeren S Lienkamp, Heymut Omran, Erica E Davis, Dan Doherty, Petter Strømme, Eirik Frengen, Carsten Bergmann, Doriana Misceo
1. November 2020 (TreatHSP.net)
Clinical Relevance of Standardized Mobile Gait Tests. Reliability Analysis Between Gait Recordings at Hospital and Home in Parkinson’s Disease: A Pilot Study

J Parkinsons Dis. 2020. [Epub ahead of print] >>PubMed-Link<<

Heiko Gaßner, Philipp Sanders, Alisa Dietrich, Franz Marxreiter, Bjoern M Eskofier, Jürgen Winkler, Jochen Klucken
1. November 2020 (CONNECT-GENERATE)
Do cross-reactive antibodies cause neuropathology in COVID-19?

Nat Rev Immunol. 2020 Nov. >>PubMed-Link<<

Jakob Kreye, S Momsen Reincke, Harald Prüss
28. October 2020 (NEOCYST)
The carboxy-terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC-activation

J Cell Mol Med. 2020 Oct 28. [Epub ahead of print] >>PubMed-Link<<

Claudia Dafinger, Amrei M Mandel, Alina Braun, Heike Göbel, Kathrin Burgmaier, Laura Massella, Antonio Mastrangelo, Jörg Dötsch, Thomas Benzing, Thomas Weimbs, Bernhard Schermer, Max C Liebau
23. October 2020 (MyPred)
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns

Front Pediatr. 2020 Oct 23. >>PubMed-Link<<

Richa Sharma, Sara Lewis, Marcin W Wlodarski
20. October 2020 (GeNeRARe)
The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered

Eur J Hum Genet. 2020 Oct 20. [Epub ahead of print] >>PubMed-Link<<

Julia Brinkmann, Christina Lissewski, Valentina Pinna, Yoann Vial, Francesca Pantaleoni, Francesca Lepri, Paola Daniele, Birute Burnyte, Goran Cuturilo, Christine Fauth, Alper Gezdirici, Dieter Kotzot, Elif Yılmaz Güleç, Violeta Iotova, Denny Schanze, Francis Ramond, Markéta Havlovicová, Gulen Eda Utine, Pelin Ozlem Simsek-Kiper, Milena Stoyanova, Alain Verloes, Alessandro De Luca, Marco Tartaglia, Hélène Cavé, Martin Zenker
18. October 2020 (STOP-FSGS)
Prolonged podocyte depletion in larval zebrafish resembles mammalian focal and segmental glomerulosclerosis

FASEB J. 2020 Oct 18. [Epub ahead of print] >>PubMed-Link<<

Kerrin Ursula Ingeborg Hansen, Florian Siegerist, Sophie Daniel, Maximilian Schindler, Anna Iervolino, Antje Blumenthal, Christoph Daniel, Kerstin Amann, Weibin Zhou, Karlhans Endlich, Nicole Endlich
13. October 2020 (MitoNet)
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

Neurol Genet. 2020 Oct 13. eCollection 2020 Dec. >>PubMed-Link<<

Florentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner
12. October 2020 (TreatHSP.net)
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons

Dis Model Mech. 2020 Oct 12. >>PubMed-Link<<

S Schuster, E Heuten, A Velic, J Admard, M Synofzik, S Ossowski, B Macek, S Hauser, L Schöls

joint publication Treat-ION/TreatHSP.net
12. October 2020 (Treat-ION)
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons

Dis Model Mech. 2020 Oct 12. >>PubMed-Link<<

S Schuster, E Heuten, A Velic, J Admard, M Synofzik, S Ossowski, B Macek, S Hauser, L Schöls

joint publication Treat-ION/TreatHSP.net
12. October 2020 (GAIN)
High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia

Ann Rheum Dis. 2020 Oct 12. [Epub ahead of print] >>PubMed-Link<<

Georgios Sogkas, Natalia Dubrowinskaja, Ignatius Ryan Adriawan, Manfred Anim, Torsten Witte, Reinhold E Schmidt, Faranaz Atschekzei
3. October 2020 (GAIN)
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies

Transplant Cell Ther. 2020 Oct 3 [Epub ahead of print] >>PubMed-Link<<

Manfred Hoenig, Joachim Roesler, Markus G Seidel, Michael H Albert, Fabian Hauck, Britta Maecker-Kolhoff, Britta Eiz-Vesper, Katharina Kleinschmidt, Klaus-Michael Debatin, Eva-Maria Jacobsen, Ingrid Furlan, Meinolf Suttorp, Catharina Schuetz, Ansgar S Schulz
1. October 2020 (STOP-FSGS)
The proteomic landscape of small urinary extracellular vesicles during kidney transplantation

J Extracell Vesicles. 2020 Oct.[Epub ahead of print] >>PubMed-Link<<

Fabian Braun, Markus Rinschen, Denise Buchner, Katrin Bohl, Ingo Plagmann, Daniel Bachurski, Martin Richard Späth, Philipp Antczak, Heike Göbel, Corinna Klein, Jan-Wilm Lackmann, Oliver Kretz, Victor G Puelles, Roger Wahba, Michael Hallek, Bernhard Schermer, Thomas Benzing, Tobias B Huber, Andreas Beyer, Dirk Stippel, Christine E Kurschat, Roman-Ulrich Müller
1. October 2020 (STOP-FSGS)
Macrophage frequency in the bone marrow correlates with morphologic subtype of myeloproliferative neoplasm

Ann Hematol. 2020 Oct 26. [Epub ahead of print] >>PubMed-Link<<

David C A Molitor, Peter Boor, Andreas Buness, Rebekka K Schneider, Lino L Teichmann, Ruth-Miriam Körber, Gabor L Horvath, Steffen Koschmieder, Ines Gütgemann
1. October 2020 (NEOCYST)
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Kidney Int. 2020 Oct. [Epub ahead of print] >>PubMed-Link<<

Ria Schönauer, Wenjun Jin, Anastasia Ertel, Melanie Nemitz-Kliemchen, Nydia Panitz, Elena Hantmann, Anna Seidel, Daniela A Braun, Shirlee Shril, Matthias Hansen, Khurrum Shahzad, Richard Sandford, Sophie Saunier, Alexandre Benmerah, Carsten Bergmann, Friedhelm Hildebrandt, Jan Halbritter
1. October 2020 (MitoNet)
MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes

Life Sci Alliance. 2020 Oct 1. [Epub ahead of print] >>PubMed-Link<<

Ruchika Anand, Arun Kumar Kondadi, Jana Meisterknecht, Mathias Golombek, Oliver Nortmann, Julia Riedel, Leon Peifer-Weiß, Nahal Brocke-Ahmadinejad, David Schlütermann, Björn Stork, Thomas O Eichmann, Ilka Wittig, Andreas S Reichert
29. September 2020 (NEOCYST)
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Sci Rep. 2020 Sep 29. [Epub ahead of print] >>PubMed-Link<<

Kathrin Burgmaier, Gema Ariceta, Martin Bald, Anja Katrin Buescher, Mathias Burgmaier, Florian Erger, Michaela Gessner, Ibrahim Gokce, Jens König, Claudia Kowalewska, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Lars Pape, Ludwig Patzer, Alexandra Potemkina, Gesa Schalk, Raphael Schild, Rukshana Shroff, Maria Szczepanska, Katarzyna Taranta-Janusz, Marcin Tkaczyk, Lutz Thorsten Weber, Elke Wühl, Donald Wurm, Simone Wygoda, Ilona Zagozdzon, Jörg Dötsch, Jun Oh, Franz Schaefer, Max Christoph Liebau
24. September 2020 (TreatHSP.net)
Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models

Front Cell Dev Biol. 2020 Sep 24. >>PubMed-Link<<

Stefan Hauser, Stefanie Schuster, Elena Heuten, Philip Höflinger, Jakob Admard, Yvonne Schelling, Ana Velic, Boris Macek, Stephan Ossowski, Ludger Schöls
24. September 2020 (MitoNet)
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

EMBO Mol Med. 2020 Sep 24. [Epub ahead of print] >>PubMed-Link<<

Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
Details
11. September 2020 (NEOCYST)
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

J Med Genet. 2020 Sep 11. [Epub ahead of print] >>PubMed-Link<<

Mareike Dahmer-Heath, Valentin Schriever, Sabine Kollmann, Carolin Schleithoff, Andrea Titieni, Metin Cetiner, Ludwig Patzer, Burkhard Tönshoff, Matthias Hansen, Petra Pennekamp, Joachim Gerß, Martin Konrad, Jens König
7. September 2020 (CONNECT-GENERATE)
Autoantibody-associated psychiatric syndromes: a systematic literature review resulting in 145 cases

Psychol Med. 2020 Sep 7. >>PubMed-Link<<

Dominique Endres, Viktoria Maier, Frank Leypoldt, Klaus-Peter Wandinger, Belinda Lennox, Thomas A Pollak, Kathrin Nickel, Simon Maier, Bernd Feige, Katharina Domschke, Harald Prüss, Karl Bechter, Rick Dersch, Ludger Tebartz van Elst
3. September 2020 (CONNECT-GENERATE)
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

J Neuroinflammation. 2020 Sep 3. [Epub ahead of print] >>PubMed-Link<<

Sven Jarius, Christian Lechner, Eva M Wendel, Matthias Baumann, Markus Breu, Mareike Schimmel, Michael Karenfort, Adela Della Marina, Andreas Merkenschlager, Charlotte Thiels, Astrid Blaschek, Michela Salandin, Steffen Leiz, Frank Leypoldt, Alexander Pschibul, Annette Hackenberg, Andreas Hahn, Steffen Syrbe, Jurgis Strautmanis, Martin Häusler, Peter Krieg, Astrid Eisenkölbl, Johannes Stoffels, Matthias Eckenweiler, Ilya Ayzenberg, Jürgen Haas, Romana Höftberger, Ingo Kleiter, Mirjam Korporal-Kuhnke, Marius Ringelstein, Klemens Ruprecht, Nadja Siebert, Kathrin Schanda, Orhan Aktas, Friedemann Paul, Markus Reindl, Brigitte Wildemann, Kevin Rostásy, in cooperation with the BIOMARKER study group and the Neuromyelitis optica Study Group (NEMOS)
3. September 2020 (CONNECT-GENERATE)
Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 1: Results from 163 lumbar punctures in 100 adult patients

J Neuroinflammation. 2020 Sep 3. [Epub ahead of print] >>PubMed-Link<<

Sven Jarius, Hannah Pellkofer, Nadja Siebert, Mirjam Korporal-Kuhnke, Martin W Hümmert, Marius Ringelstein, Paulus S Rommer, Ilya Ayzenberg, Klemens Ruprecht, Luisa Klotz, Nasrin Asgari, Tobias Zrzavy , Romana Höftberger, Rafik Tobia, Mathias Buttmann, Kai Fechner, Kathrin Schanda, Martin Weber, Susanna Asseyer, Jürgen Haas, Christian Lechner, Ingo Kleiter, Orhan Aktas, Corinna Trebst, Kevin Rostasy, Markus Reindl, Tania Kümpfel, Friedemann Paul, Brigitte Wildemann,
1. September 2020 (CONNECT-GENERATE)
Cognitive impact of neuronal antibodies: encephalitis and beyond

Transl Psychiatry. 2020 Sep 1. [Epub ahead of print] >>PubMed-Link<<

L L Gibson, A McKeever, E Coutinho, C Finke, T A Pollak
1. September 2020 (NEOCYST)
Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie) [Kidney Cysts and Cystic Nephropathies in Children – A Consensus Guideline by 10 German Medical Societies]

Klin Padiatr. 2020 Sep. >>PubMed-Link<<

Charlotte Gimpel, Carsten Bergmann, Florian Brinkert, Metin Cetiner, Ulrich Gembruch, Dieter Haffner, Markus Kemper, Jens König, Max Liebau, Rolf Felix Maier, Jun Oh, Lars Pape, Silke Riechardt, Udo Rolle, Rainer Rossi, Joachim Stegmann, Udo Vester, Constantin von Kaisenberg, Stefanie Weber, Franz Schaefer
1. September 2020 (GeNeRARe)
Anti-tumor mechanisms of rigosertib in colorectal cancer

Ann Oncol. 2020 Sep 01. [Epub ahead of print]
S.M. Hassanian Mehr, F. Rahmani, M. Hashemzehi, A. Avan, F. Barneh, F. Asgharzadeh, R. Moradi-Marjaneh, A. Soleimani, M. Parizadeh, G.A. Ferns, M. Ghayour Mobarhan, M. Ryzhikov, A.R. Afshari, M.R. Ahmadian, E. Giovannetti, M. Jafari, A.R. Rezaei, M. Khazaei
31. August 2020 (STOP-FSGS)
Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria

J Am Soc Nephrol. 2020 Aug. [Epub ahead of print] >>PubMed-Link<<

Wiebke Sachs, Marlies Sachs, Elke Krüger, Stephanie Zielinski, Oliver Kretz, Tobias B Huber, Anke Baranowsky, Lena Marie Westermann, Renata Voltolini Velho, Nataniel Floriano Ludwig, Timur Alexander Yorgan, Giorgia Di Lorenzo, Katrin Kollmann, Thomas Braulke, Ida Vanessa Schwartz, Thorsten Schinke, Tatyana Danyukova, Sandra Pohl, Catherine Meyer-Schwesinger
29. August 2020 (TreatHSP.net)
Long-term course of anterior spinal cord herniation presenting with an upper motor neuron syndrome: case report illustrating diagnostic and therapeutic implications

BMC Neurol. 2020 Aug 29. >>PubMed-Link<<

Martin Regensburger, Johannes C M Schlachetzki, Jörg Klekamp, Arnd Doerfler, Jürgen Winkler
25. August 2020 (MitoNet)
Mitochondrial Regulation of the 26S Proteasome

Cell Rep. 2020 Aug 25. [Epub ahead of print] >>PubMed-Link<<

Thomas Meul, Korbinian Berschneider, Sabine Schmitt, Christoph H Mayr, Laura F Mattner, Herbert B Schiller, Ayse S Yazgili, Xinyuan Wang, Christina Lukas, Camille Schlesser, Cornelia Prehn, Jerzy Adamski, Elisabeth Graf, Thomas Schwarzmayr, Fabiana Perocchi, Alexandra Kukat, Aleksandra Trifunovic, Laura Kremer, Holger Prokisch, Bastian Popper, Christine von Toerne, Stefanie M Hauck, Hans Zischka, Silke Meiners
25. August 2020 (CONNECT-GENERATE)
Gender issues of antibody-mediated diseases in neurology: (NMOSD/autoimmune encephalitis/MG)

Ther Adv Neurol Disord. 2020 Aug 25. >>PubMed-Link<<

Ayse Altintas, Justina Dargvainiene, Christiane Schneider-Gold, Nasrin Asgari, Ilya Ayzenberg, Andrea I Ciplea, Ralf Junker, Frank Leypoldt, Klaus-Peter Wandinger, Kerstin Hellwig
24. August 2020 (NEOCYST)
Metabolic Changes in Polycystic Kidney Disease as a Potential Target for Systemic Treatment

Int J Mol Sci. 2020 Aug 24. [Epub ahead of print] >>PubMed-Link<<

Sophie Haumann, Roman-Ulrich Müller, Max C Liebau
21. August 2020 (STOP-FSGS)
Orthotopic Kidney Auto-Transplantation in a Porcine Model Using 24 Hours Organ Preservation And Continuous Telemetry

J Vis Exp. 2020 Aug 21. [Epub ahead of print] >>PubMed-Link<<

Wen-Jia Liu, Lisa Ernst, Benedict Doorschodt, Jan Bednarsch, Felix Becker, Richi Nakatake, Yuki Masano, Ulf Peter Neumann, Sven Arke Lang, Peter Boor, Isabella Lurje, Georg Lurje, René Tolba, Zoltan Czigany
14. August 2020 (STOP-FSGS)
SARS-CoV-2 renal tropism associates with acute kidney injury

Lancet. 2020 Aug 14. [Epub ahead of print] >>PubMed-Link<<

Fabian Braun, Marc Lütgehetmann, Susanne Pfefferle, Milagros N Wong, Alexander Carsten, Maja T Lindenmeyer, Dominik Nörz, Fabian Heinrich, Kira Meißner, Dominic Wichmann, Stefan Kluge, Oliver Gross, Klaus Pueschel, Ann S Schröder, Carolin Edler, Martin Aepfelbacher, Victor G Puelles, Tobias B Huber
12. August 2020 (Treat-ION)
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Sci Transl Med. 2020 Aug 12. [Epub ahead of print] >>PubMed-Link<<

Henrike O Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S Palmer, Andreas Brunklaus, Patrick May, Epi25 Collaborative; Katrine M Johannesen, Stephan Lauxmann, Johannes R Lemke, Rikke S Møller, Eduardo Pérez-Palma, Ute I Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J Campbell, Hao-Ran Wang, Jen Pan, Mark J Daly
12. August 2020 (GeNeRARe)
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Eur J Hum Genet. 2020 Aug 12. [Epub ahead of print] >>PubMed-Link<<

Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Marco Tartaglia, Martin Zenker
6. August 2020 (TreatHSP.net)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Am J Hum Genet. 2020 Aug 6. [Epub ahead of print] >>PubMed-Link<<

Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack

joint publication mitoNET/TreatHSP.net
Details
6. August 2020 (TreatHSP.net)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Am J Hum Genet. 2020 Aug 6. >>PubMed-Link<<

Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack
Details
6. August 2020 (MitoNet)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Am J Hum Genet. 2020 Aug 6. [Epub ahead of print] >>PubMed-Link<<

Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack
Details
2. August 2020 (Treat-ION)
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6

Hum Mutat. 2020 Aug 2. [Epub ahead of print] >>PubMed-Link<<

Aparna Sharma Chivukula, Mariia Suslova, Daniel Kortzak, Peter Kovermann, Christoph Fahlke
1. August 2020 (NEOCYST)
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Genet Med. 2020 Aug. [Epub ahead of print] >>PubMed-Link<<

Ria Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, Valeska Frank, Friederike Petzold, Sebastian Sewerin, Bernt Popp, Johannes Münch, Steffen Neuber, Carsten Bergmann, Jan Halbritter
1. August 2020 (GAIN)
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients

J Clin Immunol. 2020 Aug. [Epub ahead of print] >>PubMed-Link<<

Safa Meshaal, Rabab El Hawary, Rana Adel, Dalia Abd Elaziz, Aya Erfan, Sohilla Lotfy, Mona Hafez, Mona Hassan, Matthew Johnson, Jessica Rojas-Restrepo, Laura Gamez-Diaz, Bodo Grimbacher, Walaa Shoman, Yasmine Abdelmeguid, Jeannette Boutros, Nermeen Galal, Nancy El-Guindy, Aisha Elmarsafy
1. August 2020 (GAIN)
Dynamics in protein translation sustaining T cell preparedness

Nat Immunol. 2020 Aug. [Epub ahead of print] >>PubMed-Link<<

Tobias Wolf, Wenjie Jin, Giada Zoppi, Ian A Vogel, Murodzhon Akhmedov, Christopher K E Bleck, Tim Beltraminelli, Jan C Rieckmann, Neftali J Ramirez, Marco Benevento, Samuele Notarbartolo, Dirk Bumann, Felix Meissner, Bodo Grimbacher, Matthias Mann, Antonio Lanzavecchia, Federica Sallusto, Ivo Kwee, Roger Geiger
31. July 2020 (GAIN)
Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea

Front Immunol. 2020 Jul 31. [Epub ahead of print] >>PubMed-Link<<

Cornelia M van Schewick, Christina Nöltner, Svenja Abel, Siobhan O Burns, Sarita Workman, Andrew Symes, David Guzman, Michele Proietti, Alla Bulashevska, Fernando Moreira, Veronika Soetedjo, David M Lowe, Bodo Grimbacher
29. July 2020 (MyPred)
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes

Best Pract Res Clin Haematol. 2020 Jul 29. [Epub ahead of print] >>PubMed-Link<<

Sushree S. Sahoo, Emilia J. Kozyra, Marcin W. Wlodarskia,
27. July 2020 (STOP-FSGS)
Pan-cancer image-based detection of clinically actionable genetic alterations

Nature Cancer. 2020 Jul 27.[Epub ahead of print] >>Web-Link<<

Jakob Nikolas Kather, Lara R. Heij, Heike I. Grabsch, Chiara Loeffler, Amelie Echle, Hannah Sophie Muti, Jeremias Krause, Jan M. Niehues, Kai A. J. Sommer, Peter Bankhead, Loes F. S. Kooreman, Jefree J. Schulte, Nicole A. Cipriani, Roman D. Buelow, Peter Boor, Nadina Ortiz-Brüchle, Andrew M. Hanby, Valerie Speirs, Sara Kochanny, Akash Patnaik, Andrew Srisuwananukorn, Hermann Brenner, Michael Hoffmeister, Piet A. van den Brandt, Dirk Jäger, Christian Trautwein, Alexander T. Pearson, Tom Luedde
24. July 2020 (CONNECT-GENERATE)
Antiparanodal antibodies and IgG subclasses in acute autoimmune neuropathy

Neurol Neuroimmunol Neuroinflamm. 2020 Jul 24. >>PubMed-Link<<

Luise Appeltshauser, Anna-Michelle Brunder, Annika Heinius, Peter Körtvélyessy, Klaus-Peter Wandinger, Ralf Junker, Carmen Villmann, Claudia Sommer, Frank Leypoldt, Kathrin Doppler
24. July 2020 (MitoNet)
The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation

Biomolecules. 2020 Jul 24. [Epub ahead of print] >>PubMed-Link<<

Leila Motlagh Scholle, Helena Schieffers, Samiya Al-Robaiy, Annemarie Thaele, Faramarz Dehghani, Diana Lehmann Urban, Stephan Zierz
21. July 2020 (GeNeRARe)
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Hum Mol Genet. 2020 Jul 21. [Epub ahead of print] >>PubMed-Link<<

Marialetizia Motta, Lena Sagi-Dain, Oliver H F Krumbach, Andreas Hahn, Amir Peleg, Alina German, Christina Lissewski, Simona Coppola, Francesca Pantaleoni, Luisa Kocherscheid, Franziska Altmüller, Denny Schanze, Thushiha Logeswaran, Soheyla Chahrokh-Zadeh, Anna Munzig, Saeideh Nakhaei-Rad, Hélène Cavé, Mohammad R Ahmadian, Marco Tartaglia, Martin Zenker
20. July 2020 (NEOCYST)
Fibrocystin is Essential to Cellular Control of Adhesion and Epithelial Morphogenesis

Int J Mol Sci. 2020 Jul 20. >>PubMed-Link<<

Wolfgang H Ziegler, Birga Soetje, Lisa P Marten, Jana Wiese, Mithila Burute, Dieter Haffner
16. July 2020 (GAIN)
Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effect

Haematologica. 2020 July 16. (pre-published) >>PubMed-Link<<

Eileen Haring, Franziska M Uhl, Geoffroy Andrieux, Michele Proietti, Alla Bulashevska, Barbara Sauer, Lukas M Braun, Enrique de Vega Gomez, Philipp R Esser, Stefan F Martin, Dietmar Pfeifer, Marie Follo, Annette Schmitt-Graeff, Joerg Buescher, Justus Duyster, Bodo Grimbacher, Melanie Boerries, Erika L Pearce, Robert Zeiser, Petya Apostolova
16. July 2020 (GAIN)
Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effect

Haematologica. 2020 Jul 16. [Epub ahead of print] >>PubMed-Link<<

Eileen Haring, Franziska M Uhl, Geoffroy Andrieux, Michele Proietti, Alla Bulashevska, Barbara Sauer, Lukas M Braun, Enrique de Vega Gomez, Philipp R Esser, Stefan F Martin, Dietmar Pfeifer, Marie Follo, Annette Schmitt-Graeff, Joerg Buescher, Justus Duyster, Bodo Grimbacher, Melanie Boerries, Erika L Pearce, Robert Zeiser, Petya Apostolova
8. July 2020 (CONNECT-GENERATE)
Generate-Boost: study protocol for a prospective, multicenter, randomized controlled, double-blinded phase II trial to evaluate efficacy and safety of bortezomib in patients with severe autoimmune encephalitis

Trials. 2020 Jul 8. >>PubMed-Link<<

Jonathan Wickel, Ha-Yeun Chung, Stephanie Platzer, Thomas Lehmann, Harald Prüss, Frank Leypoldt, Albrecht Günther, André Scherag, Christian Geis, GENERATE Study Group
6. July 2020 (MyPred)
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

Clin Genet. 2020 Jul 6. [Epub ahead of print] >>PubMed-Link<<

Jan Hendrik Niemann, Chen Du, Susanne Morlot, Gunnar Schmidt, Bernd Auber, Beate Kaune, Gudrun Göhring, Tim Ripperger, Brigitte Schlegelberger, Winfried Hofmann, Thomas Smol, Emilie Ait-Yahya, Anna Raimbault, Anne Lambilliotte, Florence Petit, Doris Steinemann
2. July 2020 (GAIN)
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Am J Hum Genet. 2020 Jul 2. [Epub ahead of print] >>PubMed-Link<<

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M Kroisel, Gianluca Tadini, Scott D Walter, Fabian Hauck, Katta M Girisha, Anne-Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buness, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl-Heinz Grzeschik, Regina C Betz, Zhimiao Lin
1. July 2020 (CONNECT-GENERATE)
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Ann Neurol. 2020 Jul. [Epub ahead of print] >>PubMed-Link<<

Frederik Bartels, Stephan Krohn, Marc Nikolaus, Jessika Johannsen, Ronny Wickström, Mareike Schimmel, Martin Häusler, Andrea Berger, Markus Breu, Markus Blankenburg, Johannes Stoffels, Oliver Hendricks, Günther Bernert, Gerd Kurlemann, Ellen Knierim, Angela Kaindl, Kevin Rostásy , Carsten Finke
1. July 2020 (CONNECT-GENERATE)
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Ann Neurol 2020 Jul;88(1):148-159, Epub 2020 May 29 >>PubMed-Link<<

Frederik Bartels, Stephan Krohn , Marc Nikolaus, Jessika Johannsen , Ronny Wickström, Mareike Schimmel, Martin Häusler, Andrea Berger , Markus Breu, Markus Blankenburg, Johannes Stoffels, Oliver Hendricks, Günther Bernert, Gerd Kurlemann, Ellen Knierim, Angela Kaindl, Kevin Rostásy, Carsten Finke
1. July 2020 (STOP-FSGS)
Artificial intelligence and machine learning in nephropathology

Kidney Int. 2020 Jul. Epub 2020 Apr 1. >>PubMed-Link<<

Becker JU, Mayerich D, Padmanabhan M, Barratt J, Ernst A, Boor P, Cicalese PA, Mohan C, Nguyen HV, Roysam B.
27. June 2020 (GAIN)
A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation

J Allergy Clin Immunol Pract. 2020 Jun 27. [Epub ahead of print] >>PubMed-Link<<

Daniel F R Boehmer, Lisa M Koehler, Thomas Magg, Philipp Metzger, Meino Rohlfs, Julia Ahlfeld, Anita Rack-Hoch, Karl Reiter, Michael H Albert, Stefan Endres, Simon Rothenfusser, Christoph Klein, Lars M Koenig, Fabian Hauck
27. June 2020 (GAIN)
A novel complete autosomal recessive STAT1 LOF variant causes immunodeficiency with hemophagocytic lymphohistiocytosis-like hyperinflammation

J Allergy Clin Immunol Pract. 2020 Jun 27 >>PubMed-Link<<

Boehmer D, Koehler L, Magg T, Metzger P, Rohlfs M, Ahlfeld J, Rack-Hoch A, Reiter K , Albert M, Endres S, Rothenfusser S, Klein C, Koenig L, Hauck F.
24. June 2020 (GeNeRARe)
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Hum Mutat. 2020 Jun 24. [Epub ahead of print] >>PubMed-Link<<

Fatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, Patrick J Morrison, Evren Gumus, Katherine D Mathews, Benjamin W Darbro, David J Amor, Maie Walsh, Yves Sznajer, Luisa Weiß, Sabine Weidensee, David Chitayat, Patrick Shannon, Eva Bermejo-Sánchez, Isolina Riaño-Galán, Ian Hayes, Gemma Poke, Caroline Rooryck, Perrine Pennamen, Suonavy Khung-Savatovsky, Annick Toutain, Marie-Laure Vuillaume, Siavash Ghaderi-Sohi, Mohamad H Kariminejad, Sönke Weinert, Heinrich Sticht, Martin Zenker, Denny Schanze
22. June 2020 (STOP-FSGS)
Diminution in sperm quantity and quality in mouse models of Duchenne Muscular Dystrophy induced by a myostatin-based muscle growth-promoting intervention

Eur J Transl Myol. 2020 Jun 22. [Epub ahead of print] >>PubMed-Link<<

Fabian Braun, Marc Lütgehetmann, Susanne Pfefferle, Milagros N Wong, Alexander Carsten, Maja T Lindenmeyer, Dominik Nörz, Fabian Heinrich, Kira Meißner, Dominic Wichmann, Stefan Kluge, Oliver Gross, Klaus Pueschel, Ann S Schröder, Carolin Edler, Martin Aepfelbacher, Victor G Puelles, Tobias B Huber
18. June 2020 (MyPred)
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Leukemia. 2020 Jun 18. [Epub ahead of print] >>PubMed-Link<<

Emilia J Kozyra, Victor B Pastor, Stylianos Lefkopoulos, Sushree S Sahoo, Hauke Busch, Rebecca K Voss, Miriam Erlacher, Dirk Lebrecht, Enikoe A Szvetnik, Shinsuke Hirabayashi, Ramunė Pasaulienė, Lucia Pedace, Marco Tartaglia, Christian Klemann, Patrick Metzger, Melanie Boerries, Albert Catala, Henrik Hasle, Valerie de Haas, Krisztián Kállay, Riccardo Masetti, Barbara De Moerloose, Michael Dworzak, Markus Schmugge, Owen Smith, Jan Starý, Ester Mejstrikova, Marek Ussowicz, Emma Morris, Preeti Singh, Matthew Collin, Marta Derecka, Gudrun Göhring, Christian Flotho, Brigitte Strahm, Franco Locatelli, Charlotte M Niemeyer, Eirini Trompouki, Marcin W Wlodarski,
17. June 2020 (STOP-FSGS)
Clinical-grade Detection of Microsatellite Instability in Colorectal Tumors by Deep Learning

Gastroenterology, 2020 Jun 17;S0016-5085(20)34818-6. >>PubMed-Link<<

Ms. Amelie Echle, Prof. Heike Irmgard Grabsch, Prof. Philip Quirke, Prof. Piet A., van den Brandt, Dr Nicholas P. West, Dr. Gordon G.A. Hutchins, Dr. Lara R. Heij, Ms. Xiuxiang Tan, Dr. Susan D. Richman, Mr. Jeremias Krause, Dr. Elizabeth Alwers, Ms. Josien Jenniskens, Ms. Kelly Offermans, Prof. Richard Gray, Prof. Hermann Brenner, Prof. Jenny Chang-Claude, Prof. Christian Trautwein, Prof. Alexander T. Pearson, Prof. Peter Boor, Prof. Tom Luedde, Prof. Nadine Therese Gaisa, Prof. Michael Hoffmeister, Dr. Jakob Nikolas Kather
15. June 2020 (GAIN)
Glucagon like peptide-2 for Intestinal stem cell and Paneth cell repair during graft-versus-host disease in mice and humans.

Blood. 2020 Jun 15. Online ahead of print. >>PubMed-Link<<

Norona J, Apostolova P, Schmidt D, Ihlemann R, Reischmann N, Taylor G, Köhler N, de Heer J, Heeg S, Andrieux G, Siranosian BA, Schmitt-Graeff A, Pfeifer D, Catalano A, Frew I, Proietti M, Grimbacher B, Bulashevska A, Bhatt AS, Brummer T, Clauditz TS, Zabelina T, Kroeger N, Blazar BR, Boerries M, Ayuk F, Zeiser R.
Details
11. June 2020 (GeNeRARe)
Novel FMRP interaction networks linked to cellular stress

FEBS J. 2020 Jun 11. [Epub ahead of print] >>PubMed-Link<<

Mohamed S Taha, Fereshteh Haghighi, Anja Stefanski, Saeideh Nakhaei-Rad, Neda S Kazemein Jasemi, Mohamed Aghyad Al Kabbani, Boris Görg, Masahiro Fujii, Phillip A Lang, Dieter Häussinger, Roland P Piekorz, Kai Stühler, Mohammad R Ahmadian
9. June 2020 (Treat-ION)
In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising During Neurodevelopment

Stem Cell Reports, 2020 Jun 9. [Epub ahead of print]>>PubMed-Link<<

Filip Rosa, Ashutosh Dhingra, Betül Uysal, G Dulini C Mendis, Heidi Loeffler, Gina Elsen, Stephan Mueller, Niklas Schwarz, Melissa Castillo-Lizardo, Claire Cuddy, Felicitas Becker, Peter Heutink, Christopher A Reid, Steven Petrou, Holger Lerche, Snezana Maljevic
8. June 2020 (MitoNet)
Multiple Pathways Coordinate Assembly of Human Mitochondrial Complex IV and Stabilization of Respiratory Supercomplexes

EMBO J. 2020 Jun 8. [Epub ahead of print] >>PubMed-Link<<

Teresa Lobo-Jarne, Rafael Pérez-Pérez, Flavia Fontanesi, Alba Timón-Gómez, Ilka Wittig, Ana Peñas, Pablo Serrano-Lorenzo, Inés García-Consuegra, Joaquín Arenas, Miguel A Martín, Antoni Barrientos, Cristina Ugalde
4. June 2020 (GeNeRARe)
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

Eur J Hum Genet. 2020 Jun 4. [Epub ahead of print] >>PubMed-Link<<

Karen W Gripp, Laura Baker, Katherine M Robbins, Deborah L Stabley, Gary A Bellus, Verena Kolbe, Theresa Nauth, Georg Rosenberger
2. June 2020 (CONNECT-GENERATE)
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy

Neurol Neuroimmunol Neuroinflamm. 2020 Jun 2. [Epub ahead of print] >>PubMed-Link<<

Desiree De Simoni, Gerda Ricken, Michael Winklehner, Inga Koneczny, Michael Karenfort, Ulf Hustedt, Ulrich Seidel, Omar Abdel-Mannan, Pinki Munot, Simon Rinaldi, Claudia Steen, Michael Freilinger, Markus Breu, Rainer Seidl, Markus Reindl, Julia Wanschitz, Cinta Lleixà, Günther Bernert, Klaus-Peter Wandinger, Ralf Junker, Luis Querol, Frank Leypoldt, Kevin Rostásy, Romana Höftberger
1. June 2020 (MitoNet)
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

Clin Lab Med. 2020 Jun >>PubMed-Link<<

Sarah L Stenton, Holger Prokisch
1. June 2020 (GAIN)
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

J Exp Med. 2020 Jun 1; >> PubMed-Link <<

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A
1. June 2020 (MitoNet)
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

EBioMedicine. 2020 Jun. [Epub ahead of print] >>PubMed-Link<<

Sarah L Stenton, Holger Prokisch
1. June 2020 (MyPred)
Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells

Gene Ther. 2020 Jun. [Epub ahead of print] >>PubMed-Link<<

Dirk Hoffmann, Johannes Kuehle, Daniela Lenz, Friederike Philipp, Daniela Zychlinski, Nico Lachmann, Thomas Moritz, Doris Steinemann, Michael Morgan, Julia Skokowa, Christoph Klein, Axel Schambach
1. June 2020 (CONNECT-GENERATE)
Drebrin Autoantibodies in Patients with Seizures and Suspected Encephalitis

Ann Neurol. 2020 Jun. >>PubMed-Link<<

Julika Pitsch, Delara Kamalizade, Anna Braun, Julia C Kuehn, Polina E Gulakova, Theodor Rüber, Gert Lubec, Dirk Dietrich, Randi von Wrede, Christoph Helmstaedter, Rainer Surges, Christian E Elger, Elke Hattingen, Hartmut Vatter, Susanne Schoch, Albert J Becker
1. June 2020 (GeNeRARe)
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2’s functional regulation

Hum Mutat. 2020 Jun;41(6):1171-1182. Epub 2020 Mar 11 >>PubMedLink<<

Martinelli S, Pannone L, Lissewski C, Brinkmann J, Flex E, Schanze D, Calligari P, Anselmi M, Pantaleoni F, Canale VC, Radio FC, Ioannides A, Rahner N, Schanze I, Josifova D, Bocchinfuso G, Ryten M, Stella L, Tartaglia M, Zenker M
28. May 2020 (STOP-FSGS)
Microbiota-Induced Type I Interferons Instruct a Poised Basal State of Dendritic Cells

Cell. 2020 May 28. [Epub ahead of print] >>PubMed-Link<<

Laura Schaupp, Sabine Muth, Leif Rogell, Michael Kofoed-Branzk, Felix Melchior, Stefan Lienenklaus, Stephanie C Ganal-Vonarburg, Matthias Klein, Fabian Guendel, Tobias Hain, Kristian Schütze, Ulrike Grundmann, Vanessa Schmitt, Martina Dorsch, Julia Spanier 10 , Pia-Katharina Larsen, Thomas Schwanz, Sven Jäckel, Christoph Reinhardt, Tobias Bopp, Sven Danckwardt, Karsten Mahnke, Gitta Anne Heinz, Mir-Farzin Mashreghi, Pawel Durek, Ulrich Kalinke, Oliver Kretz, Tobias B Huber, Siegfried Weiss, Christoph Wilhelm, Andrew J Macpherson, Hansjörg Schild, Andreas Diefenbach, Hans Christian Probst
25. May 2020 (NEOCYST)
Maintenance Peritoneal Dialysis in Children With Autosomal Recessive Polycystic Kidney Disease: A Comparative Cohort Study of the International Pediatric Peritoneal Dialysis Network Registry

Am J Kidney Dis. 2020 Mar. [Epub ahead of print] >>PubMed-Link<<

Abdelaziz Akarkach, Kathrin Burgmaier, Anja Sander, Nakysa Hooman, Lale Sever, Francisco Cano, Pedro Zambrano, Ilmay Bilge, Joseph T Flynn, Onder Yavascan, Patricia G Vallés , Reyner Loza Munarriz, Hiren P Patel, Erkin Serdaroglu, Vera H Koch, Angela Del Carmen Suarez, Monica Galanti, Claudia Gonzalez Celedon, Anabella Rébori, Jameela A Kari, Cynthia J Wong, Ewa Elenberg, Luisa F Rojas, Bradley A Warady, Max C Liebau, Franz Schaefer, IPPN Registry
24. May 2020 (STOP-FSGS)
Chemokine CXCL13 as a New Systemic Biomarker for B-Cell Involvement in Acute T Cell-Mediated Kidney Allograft Rejection

Int J Mol Sci. 2019 May 24. [Epub ahead of print] >>PubMed-Link<<

Lena Schiffer, Flavia Wiehle, Jan Hinrich Bräsen, Wilfried Gwinner, Robert Greite, Kirill Kreimann, Anja Thorenz, Katja Derlin, Beina Teng, Song Rong, Sibylle von Vietinghoff, Hermann Haller, Michael Mengel, Lars Pape, Christian Lerch, Mario Schiffer, Faikah Gueler
18. May 2020 (TreatHSP.net)
Decoding Parkinson’s disease – iPSC-derived models in the OMICs era

Mol Cell Neurosci. 2020 Jul. [Epub ahead of print] >>PubMed-Link<<

Florian Krach, Marios-Evangelos Bogiongko, Beate Winner
18. May 2020 (TreatHSP.net)
Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa

Mov Disord . 2020 May 18. [Epub ahead of print] >>PubMed-Link<<

Martin Regensburger, Georgia Minakaki, Matthias Kettwig, Cord Huchzermeyer, Felix Eisenhut, Tobias B Haack, Zacharias Kohl, Jürgen Winkler
13. May 2020 (Treat-ION)
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

Nucleic Acids Res. 2020 May 13 [Epub ahead of print] >>PubMed-Link<<

Iqbal S, Hoksza D, Pérez-Palma E, May P, Jespersen JB, Ahmed SS, Rifat ZT, Heyne HO, Rahman MS, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D.
13. May 2020 (STOP-FSGS)
Multiorgan and Renal Tropism of SARS-CoV-2

N Engl J Med. 2020 May 13. [Epub ahead of print] >>PubMed-Link<<

Puelles VG, Lütgehetmann M, Lindenmeyer MT, Sperhake JP, Wong MN, Allweiss L, Chilla S, Heinemann A, Wanner N, Liu S, Braun F, Lu S, Pfefferle S, Schröder AS, Edler C, Gross O, Glatzel M, Wichmann D, Wiech T, Kluge S, Pueschel K, Aepfelbacher M, Huber TB
Details
1. May 2020 (TreatHSP.net)
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Nat Genet. 2020 May. [Epub ahead of print]>>PubMed-Link<<

Andrea Cortese, Yi Zhu, Adriana P Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J Bacon, Yunhong Bai, Dana M Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C Danzi, Shawna M E Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A Haridy, Inherited Neuropathy Consortium; Rosario Isasi, Alaa Khan, Matilde Laurà, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M Rossor, Paola Saveri, Janet E Sowden, Stefano Tozza, Jana Vandrovcova, Julia Dallman, Elena Grignani, Enrico Marchioni, Steven S Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al-Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer-Grumbach, Mohamed A Abdelhamed, Sherifa A Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N Herrmann, Mary M Reilly, Michael E Shy, R Grace Zhai, Stephan Zuchner
1. May 2020 (GAIN)
Long-term Outcome of LRBA Deficiency in 76 Patients After Various Treatment Modalities as Evaluated by the Immune Deficiency and Dysregulation Activity (IDDA) Score

J Allergy Clin Immunol. 2020 May. [Epub ahead of print] >>PubMed-Link<<

Victoria Katharina Tesch, Hassan Abolhassani, Bella Shadur, Joachim Zobel, Yuliya Mareika, Svetlana Sharapova, Elif Karakoc-Aydiner, Jacques G Rivière, Marina Garcia-Prat, Nicolette Moes, Filomeen Haerynck, Luis I Gonzales-Granado, Juan Luis Santos Pérez, Anna Mukhina, Anna Shcherbina , Asghar Aghamohammadi, Lennart Hammarström, Figen Dogu, Sule Haskologlu, Aydan I İkincioğulları, Sevgi Köstel Bal, Safa Baris, Sara Sebnem Kilic, Neslihan Edeer Karaca, Necil Kutukculer, Hermann Girschick, Antonios Kolios, Sevgi Keles, Vedat Uygun, Polina Stepensky, Austen Worth, Joris M van Montfrans, Anke M J Peters, Isabelle Meyts, Mehdi Adeli, Antonio Marzollo, Nurcicek Padem, Amer M Khojah, Zahra Chavoshzadeh, Magdalena Avbelj Stefanija, Shahrzad Bakhtiar, Benoit Florkin, Marie Meeths, Laura Gamez, Bodo Grimbacher, Mikko R J Seppänen, Arjan Lankester, Andrew R Gennery, Markus G Seidel, Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies
1. May 2020 (CONNECT-GENERATE)
Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

Neurol Neuroimmunol Neuroinflamm. 2020 May 1. >>PubMed-Link<<

Andreas Wegener-Panzer, Robert Cleaveland, Eva-Maria Wendel, Matthias Baumann, Annikki Bertolini, Martin Häusler, Ellen Knierim, Edith Reiter-Fink, Markus Breu, Özcan Sönmez, Adela Della Marina, Renate Peters, Christian Lechner, Martin Piepkorn, Claudia Roll, Romana Höftberger, Frank Leypoldt, Markus Reindl, Kevin Rostásy
1. May 2020 (STOP-FSGS)
A novel mouse model of phospholipase A2 receptor 1-associated membranous nephropathy mimics podocyte injury in patients

Kidney Int. 2020 May. [Epub ahead of print] >>PubMed-Link<<

Catherine Meyer-Schwesinger, Nicola M Tomas, Silke Dehde, Larissa Seifert, Irm Hermans-Borgmeyer, Thorsten Wiech, Friedrich Koch-Nolte, Tobias B Huber, Gunther Zahner
1. May 2020 (TreatHSP.net)
Janus-faced Spatacsin (SPG11): Involvement in Neurodevelopment and Multisystem Neurodegeneration

Brain. 2020 May 1. [Epub ahead of print] >>PubMed-Link<<

Tatyana Pozner, Martin Regensburger, Tobias Engelhorn, Jürgen Winkler, Beate Winner
20. April 2020 (NEOCYST)
STAT Signaling in Polycystic Kidney Disease

Cell Signal. 2020 Apr 20. [Epub ahead of print] >>PubMed-Link<<

Sebastian Strubl, Jacob A Torres, Alison K Spindt, Hannah Pellegrini, Max C Liebau, Thomas Weimbs
16. April 2020 (MitoNet)
Lifetime Risk of Autosomal Recessive Mitochondrial Disorders Calculated From Genetic Databases

EBioMedicine. 2020 Apr. [Epub ahead of print]>>PubMed-Link<<

Jing Tan, Matias Wagner, Sarah L Stenton, Tim M Strom, Saskia B Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
9. April 2020 (GAIN)
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

J Allergy Clin Immunol. 2020 Apr 9. [Epub ahead of print] >>PubMed-Link<<

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W M van der Meer, Rohan Ameratunga, Chaim M Roifman, Yael D Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Bar, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E Thaventhiran, Alexandra F Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R J Seppänen, Siobhan O Burns, Paul Tuijnenburg, Taco W Kuijpers, NIHR-BioResource – Rare Diseases Consortium; Klaus Warnatz, Bodo Grimbacher
2. April 2020 (MitoNet)
A Salvage Pathway Maintains Highly Functional Respiratory Complex I

Nat Commun. 2020 Apr 2. >>PubMed-Link<<

Karolina Szczepanowska, Katharina Senft, Juliana Heidler, Marija Herholz, Alexandra Kukat, Michaela Nicole Höhne, Eduard Hofsetz, Christina Becker, Sophie Kaspar, Heiko Giese, Klaus Zwicker, Sergio Guerrero-Castillo, Linda Baumann, Johanna Kauppila Anastasia Rumyantseva, Stefan Müller, Christian K Frese, Ulrich Brandt, Jan Riemer, Ilka Wittig, Aleksandra Trifunovic
1. April 2020 (GAIN)
Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals With 56 Distinct Heterozygous NFKB1 Mutations

J Allergy Clin Immunol. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W M van der Meer, Rohan Ameratunga, Chaim M Roifman, Yael D Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E Thaventhiran, Alexandra F Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R J Seppänen, Siobhan O Burns, Paul Tuijnenburg, Taco W Kuijpers, NIHR-BioResource – Rare Diseases Consortium; Klaus Warnatz, Bodo Grimbacher
1. April 2020 (GAIN)
Cancer Tendency in a Patient With ZNF341 Deficiency

J Clin Immunol. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<

Sukru Cekic, Julia Maria Hartberger, Stefanie Frey-Jakobs, Huzeyfe Huriyet, Melika Bektas Hortoglu, Johanna Charlotte Neubauer, Yasin Karali, Candan Demiroz Abakay, Ozlem Saraydaroglu, Tolga Cavas, Bodo Grimbacher, Sara Sebnem Kilic
1. April 2020 (MitoNet)
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells

Nucleic Acid Ther. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<

Nisha Verwey, Isabella Gazzoli, Sabine Krause, Kamel Mamchaoui, Vincent Mouly, Annemieke Aartsma-Rus
1. April 2020 (STOP-FSGS)
Inhibition of Activin/Myostatin signalling induces skeletal muscle hypertrophy but impairs mouse testicular development

Eur J Transl Myol. 2020 Apr 1. >>PubMed-Link<<

Danielle Vaughan, Olli Ritvos, Robert Mitchell, Oliver Kretz, Maciej Lalowski, Helge Amthor, David Chambers, Antonios Matsakas, Arja Pasternack, Henry Collins-Hooper, Randy Ballesteros, Tobias B Huber, Bernd Denecke, Darius Widera, Abir Mukherjee, Ketan Patel
17. March 2020 (Treat-ION)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Genome Med. 2020 Mar 17. >>PubMed-Link<<

Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, and Mark J. Daly
8. March 2020 (GAIN)
Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency Disorders

J Allergy Clin Immunol Pract. 2020 Mar;8(3):1047-1062.e6. doi: 10.1016/j.jaip.2019.11.039. Epub 2019 Dec 16 >>PubMed-Link<<

van de Ven A, Mader I, Wolff D, Goldacker S, Fuhrer H, Rauer S, Grimbacher B, Warnatz K.
6. March 2020 (STOP-FSGS)
Dysregulated mesenchymal PDGFR-β drives kidney fibrosis

EMBO Mol Med. 2020 März 6 >>PubMed-Link<<

Buhl EM, Djudjaj S, Klinkhammer BM, Ermert K, Puelles VG, Lindenmeyer MT, Cohen CD, He C, Borkham-Kamphorst E, Weiskirchen R, Denecke B, Trairatphisan P, Saez-Rodriguez J, Huber TB, Olson LE, Floege J, Boor P.
4. March 2020 (Treat-ION)
Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6

Brain Communications Vol 2(1) 2020 >>PubMed-Link<<

Kovermann P, Untiet V, Kolobkova Y, Engels M, Baader S, Schilling K, and Fahlke C.
1. March 2020 (CONNECT-GENERATE)
Human Cerebrospinal Fluid Monoclonal LGI1 Autoantibodies Increase Neuronal Excitability

Ann Neurol. 2020 Mar. >>PubMed-Link<<

Hans-Christian Kornau, Jakob Kreye, Alexander Stumpf, Yuko Fukata, Daniel Parthier, Rosanna P Sammons, Barbara Imbrosci, Sarah Kurpjuweit, Alexander B Kowski, Masaki Fukata, Harald Prüss, Dietmar Schmitz
1. March 2020 (STOP-FSGS)
A collagen-binding protein enables molecular imaging of kidney fibrosis in vivo

Kidney Int. 2020 Mar. [Epub ahead of print] >>PubMed-Link<<

Baues M, Klinkhammer BM, Ehling J, Gremse F, van Zandvoort MAMJ, Reutelingsperger CPM, Daniel C, Amann K, Bábíčková J, Kiessling F, Floege J, Lammers T, Boor P.
1. March 2020 (GAIN)
Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency Disorders

J Allergy Clin Immunol Pract. 2020 Mar. [Epub ahead of print] >>PubMed-Link<<

Annick van de Ven, Irina Mader, Daniel Wolff, Sigune Goldacker, Hannah Fuhrer, Sebastian Rauer, Bodo Grimbacher, Klaus Warnatz
24. February 2020 (STOP-FSGS)
Crystal Clots as Therapeutic Target in Cholesterol Crystal Embolism

Circ Res. 2020 Feb 24. [Epub ahead of print] >>PubMed-Link<<

Shi C, Kim T, Steiger S, Mulay SR, Klinkhammer BM, Bäuerle T, Melica ME, Romagnani P, Möckel D, Baues M, Mammadova-Bach E, Yang L, Brouns SL, Heemskerk JW, Braun A, Lammers T, Boor P, Anders HJ.
21. February 2020 (STOP-FSGS)
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy

J Am Soc Nephrol. 2020 Feb 21. [Epub ahead of print] >>PubMed-Link<<

Barbara Mara Klinkhammer, Sonja Djudjaj, Uta Kunter, Runolfur Palsson, Vidar Orn Edvardsson, Thorsten Wiech, Margret Thorsteinsdottir, Sverrir Hardarson, Orestes Foresto-Neto, Shrikant R. Mulay, Marcus Johannes Moeller, Wilhelm Jahnen-Dechent, Jürgen Floege, Hans-Joachim Anders and Peter Boor
20. February 2020 (CONNECT-GENERATE)
Antibody-related movement disorders – a comprehensive review of phenotype-autoantibody correlations and a guide to testing

Neurol Res Pract. 2020 Feb 20. >>PubMed-Link<<

Felix Gövert, Frank Leypoldt, Ralf Junker, Klaus-Peter Wandinger, Günther Deuschl, Kailash P Bhatia, Bettina Balint
10. February 2020 (MitoNet)
Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia

J Cell Mol Med. 2020 Feb 10. [Epub ahead of print]>>PubMed-Link<<

Szibor M, Schreckenberg R, Gizatullina Z, Dufour E, Wiesnet M, Dhandapani PK, Debska-Vielhaber G, Heidler J, Wittig I, Nyman TA8, Gärtner U, Hall AR, Pell V, Viscomi C, Krieg T, Murphy MP, Braun T, Gellerich FN, Schlüter KD, Jacobs HT.
1. February 2020 (MitoNet)
Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FET

Biochim Biophys Acta Bioenerg. 2020 Feb 1. [Epub ahead of print] >>PubMed-Link<<

Szibor M, Gainutdinov T, Fernandez-Vizarra E, Dufour E, Gizatullina Z, Debska-Vielhaber G, Heidler J, Wittig I, Viscomi C, Gellerich F, Moore AL.
1. February 2020 (TreatHSP.net)
Aicardi-Goutières Syndrome Due to a Paternal Mosaic IFIH1 Mutation

Neurol Genet. 2020 Feb. [Epub ahead of print] >>PubMed-Link<<

Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, Peter Kaufmann, Christine Wolf, Nadja Lucas, Florian Harmuth, Jennifer Reichbauer, Ingeborg Krägeloh-Mann, Rebecca Schüle, Min Ae Lee-Kirsch
30. January 2020 (MitoNet)
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Hum Mutat. 2020 Jan 30. [Epub ahead of print] >>PubMed-Link<<

Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.
24. January 2020 (GAIN)
Cancer Tendency in a Patient with ZNF341 Deficiency

J Clin Immunol. 2020 Jan 24 [Epub ahead of print] >>PubMed-Link<<

Cekic S, Hartberger JM, Frey-Jakobs S, Huriyet H, Hortoglu MB, Neubauer JC, Karali Y, Abakay CD, Saraydaroglu O, Cavas T, Grimbacher B, Kilic S
17. January 2020 (TreatHSP.net)
Modeling Cell-Cell Interactions in Parkinson’s Disease Using Human Stem Cell-Based Models

Front Cell Neurosci. 2020 Jan 17. [Epub ahead of print] >>PubMed-Link<<

Katrin Simmnacher, Jonas Lanfer, Tania Rizo, Johanna Kaindl, Beate Winner
15. January 2020 (CONNECT-GENERATE)
Pregnancy outcomes in anti-NMDA receptor encephalitis: Case series

Neurol Neuroimmunol Neuroinflamm. 2020 Jan 16. >>PubMed-Link<<

Bastien Joubert, Anna García-Serra, Jesús Planagumà, Eugenia Martínez-Hernandez, Andrea Kraft, Frederick Palm, Takahiro Iizuka, Jérôme Honnorat, Frank Leypoldt, Francesc Graus, Josep Dalmau
13. January 2020 (MitoNet)
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet. 2020 Jan 13 >> PubMed-Link<<

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group
2. January 2020 (MitoNet)
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

Am J Hum Genet. 2020 Jan 2. >>PubMed-Link<<

Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A Mayr, Chae-Young Lee, Vicente A Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M Panneman, Agnès Rötig, Richard J T Rodenburg, Saskia B Wortmann, Holger Prokisch, Markus Schuelke
2. January 2020 (MitoNet)
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Am J Hum Genet. 2020 Jan 2. [Epub ahead of print] >> PubMed-Link<<

Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW.
1. January 2020 (GAIN)
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

Clin Immunol. 2020 Jan [Epub ahead of print 2019 Nov 23] >>PubMed-Link<<

Sabine Jägle, Maximilian Heeg, Sarah Grün, Anne Rensing-Ehl, Maria Elena Maccari, Christian Klemann, Neil Jones, Kai Lehmberg, Claudia Bettoni, Klaus Warnatz, Bodo Grimbacher, Ariane Biebl, Uwe Schauer, Rosie Hague, Olaf Neth, Andrea Mauracher, Jana Pachlopnik Schmid, Alexandre Fabre, Larysa Kostyuchenko, Marita Führer, Myriam Ricarda Lorenz, Klaus Schwarz, Jan Rohr, Stephan Ehl
1. January 2020 (MitoNet)
The diagnosis of inborn errors of metabolism by an integrative “multi-omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics

J Inherit Metab Dis. 2020 Jan. [Epub ahead of print] >>PubMed-Link<<

Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H.
1. January 2020 (Treat-ION)
Genetic Potassium Channel-Associated Epilepsies: Clinical Review of the Kv Family

Eur J Paediatr Neurol. 2020 Jan [Epub ahead of print] >>PubMed-Link<<

Nicholas M Allen, Sarah Weckhuysen, Kathleen Gorman, Mary D King, Holger Lerche
23. December 2019 (STOP-FSGS)
Podocytes maintain high basal levels of autophagy independent of mtor signaling

Autophagy. 2019 Dec 23 [Epub ahead of print]
Bork T, Liang W, Yamahara K, Lee P, Tian Z, Liu S, Schell C, Thedieck K, Hartleben B, Patel K, Tharaux PL, Lenoir O, Huber TB.
17. December 2019 (MitoNet)
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy

Cell Rep. 2019 Dec 17.

Murgia M, Tan J, Geyer PE, Doll S, Mann M, Klopstock T.
13. December 2019 (MitoNet)
Consensus-based statements for the management of mitochondrial stroke-like episodes

Wellcome Open Res. 2019 Dec 13;4:201. eCollection 2019 >>PubMed-Link<<

Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM.
11. December 2019 (MitoNet)
High-resolution cryo-EM Structures of Respiratory Complex I: Mechanism, Assembly, and Disease

Sci Adv. 2019 Dec 11. [Epub ahead of print] >>PubMed-Link<<

Kristian Parey, Outi Haapanen, Vivek Sharma, Harald Köfeler, Thomas Züllig, Simone Prinz, Karin Siegmund, Ilka Wittig, Deryck J Mills, Janet Vonck, Werner Kühlbrandt, Volker Zickermann
2. December 2019 (GeNeRARe)
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

J Exp Med. 2019 Dec 2. [Epub ahead of print] >>PubMed-Link<<

Michael T Lam , Simona Coppola, Oliver H F Krumbach, Giusi Prencipe, Antonella Insalaco, Cristina Cifaldi, Immacolata Brigida, Erika Zara, Serena Scala, Silvia Di Cesare, Simone Martinelli, Martina Di Rocco, Antonia Pascarella, Marcello Niceta, Francesca Pantaleoni, Andrea Ciolfi, Petra Netter, Alexandre F Carisey, Michael Diehl, Mohammad Akbarzadeh, Francesca Conti, Pietro Merli, Anna Pastore, Stefano Levi Mortera, Serena Camerini, Luciapia Farina, Marcel Buchholzer, Luca Pannone, Tram N Cao, Zeynep H Coban-Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Luca Basso-Ricci, Maria Chiriaco, Radovan Dvorsky, Lorenza Putignani, Rita Carsetti, Petra Janning, Asbjorg Stray-Pedersen, Hans Christian Erichsen, AnnaCarin Horne, Yenan T Bryceson, Lamberto Torralba-Raga, Kim Ramme, Vittorio Rosti, Claudia Bracaglia, Virginia Messia, Paolo Palma, Andrea Finocchi , Franco Locatelli, Ivan K Chinn, James R Lupski, Emily M Mace, Caterina Cancrini, Alessandro Aiuti, Mohammad R Ahmadian, Jordan S Orange, Fabrizio De Benedetti, Marco Tartaglia
1. December 2019 (NEOCYST)
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

J Am Soc Nephrol. 2019 Dec. [Epub ahead of print] >>PubMed-Link<<

Lina L Kampf, Ronen Schneider, Lea Gerstner, Roland Thünauer , Mengmeng Chen, Martin Helmstädter, Ali Amar, Ana C Onuchic-Whitford, Reyner Loza Munarriz, Afig Berdeli, Dominik Mülle, Eva Schrezenmeier, Klemens Budde, Shrikant Mane, Kristen M Laricchia, Heidi L Rehm, Daniel G MacArthur, Richard P Lifton, Gerd Walz, Winfried Römer, Carsten Bergmann, Friedhelm Hildebrandt, Tobias Hermle
1. December 2019 (Treat-ION)
SCN2A channelopathies: Mechanisms and models

Epilepsia. 2019 Dec;60 Suppl 3:S68-S76

Hedrich UBS, Lauxmann S, Lerche H.
1. December 2019 (GeNeRARe)
Variants in nuclear factor I genes influence growth and development

Am J Med Genet C Semin Med Genet. 2019 Dec. [Epub ahead of print] >>PubMed-Link<<

Martin Zenker, Jens Bunt, Ina Schanze, Denny Schanze, Michael Piper, Manuela Priolo, Erica H Gerkes, Richard M Gronostajski, Linda J Richards, Julie Vogt, Marja W Wessels, Raoul C Hennekam
28. November 2019 (STOP-FSGS)
Primary decidual zone formation requires Scribble for pregnancy success in mice

Nat Commun. 2019 Nov 28. >>PubMed-Link<<

Yuan J, Aikawa S, Deng W, Bartos A, Walz G, Grahammer F, Huber TB, Sun X, Dey SK.
27. November 2019 (STOP-FSGS)
Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model

Sci Rep. 2019 Nov 27. [Epub ahead of print] >>PubMed-Link<<

H Schenk, J Müller-Deile, P Schroder, P Bolaños-Palmieri, L Beverly-Staggs, R White, J H Bräsen, H Haller, M Schiffer
15. November 2019 (CONNECT-GENERATE)
Human gestational N-methyl-d-aspartate receptor autoantibodies impair neonatal murine brain function

Ann Neurol. 2019 Nov. >>PubMed-Link<<

Betty Jurek, Mariya Chayka, Jakob Kreye, Katharina Lang, Larissa Kraus, Pawel Fidzinski, Hans-Christian Kornau, Le-Minh Dao, Nina K Wenke, Melissa Long, Marion Rivalan, York Winter, Jonas Leubner, Julia Herken, Simone Mayer, Susanne Mueller, Philipp Boehm-Sturm, Ulrich Dirnagl, Dietmar Schmitz, Michael Kölch, Harald Prüss
14. November 2019 (GAIN)
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

Front Immunol. 2019 Nov 14;10:2618. doi: 10.3389/fimmu.2019.02618. eCollection 2019 >>PubMed-Link<<

Schröder C, Sogkas G, Fliegauf M, Dörk T, Liu D, Hanitsch LG, Steiner S, Scheibenbogen C, Jacobs R, Grimbacher B, Schmidt RE, Atschekzei F.
14. November 2019 (GAIN)
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

Front Immunol. 2019 Nov 14. [Epub ahead of print] >>PubMed-Link<<

Claudia Schröder, Georgios Sogkas, Manfred Fliegauf, Thilo Dörk, Di Liu, Leif G Hanitsch, Sophie Steiner, Carmen Scheibenbogen, Roland Jacobs, Bodo Grimbacher, Reinhold E Schmidt, Faranaz Atschekzei
8. November 2019 (Treat-ION)
Novel treatment approaches and pediatric research networks in status epilepticus

Epilepsy Behav. 2019 Dec;101(Pt B):106564. Epub 2019 Nov 8

Bialer M, Cross H, Hedrich UBS, Lagae L, Lerche H, Loddenkemper T.
6. November 2019 (CONNECT-GENERATE)
Combining super-resolution microscopy with neuronal network recording using magnesium fluoride thin films as cover layer for multi-electrode array technology

Sci Rep. 2019 Nov 6. >>PubMed-Link<<

L Schmidl, G Schmidl, A Gawlik, J Dellith, U Hübner, V Tympel, F Schmidl, J Plentz, C Geis, H Haselmann
6. November 2019 (CONNECT-GENERATE)
Combining super-resolution microscopy with neuronal network recording using magnesium fluoride thin films as cover layer for multi-electrode array technology

Sci Rep 2019 Nov 6;9(1):16110. <<PubMed-Link>>

L Schmidl, G Schmidl, A Gawlik, J Dellith, U Hübner, V Tympel, F Schmidl, J Plentz, C Geis, H Haselmann
1. November 2019 (CONNECT-GENERATE)
Human gestational N-methyl-d-aspartate receptor autoantibodies impair neonatal murine brain function

Ann Neurol. 2019 Nov. >>PubMed-Link<<

Betty Jurek, Mariya Chayka, Jakob Kreye, Katharina Lang, Larissa Kraus, Pawel Fidzinski, Hans-Christian Kornau, Le-Minh Dao, Nina K Wenke, Melissa Long, Marion Rivalan, York Winter, Jonas Leubner, Julia Herken, Simone Mayer, Susanne Mueller, Philipp Boehm-Sturm, Ulrich Dirnagl, Dietmar Schmitz, Michael Kölch, Harald Prüss
1. November 2019 (MitoNet)
Leberʼsche hereditäre Optikusneuropathie [Leber’s Hereditary Optic Neuropathy]

Klin Monbl Augenheilkd. 2019 Nov. >>PubMed-Link<<

Claudia Priglinger, Thomas Klopstock Günter Rudolph, Siegfried Georg Priglinger
1. November 2019 (GeNeRARe)
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Am J Hum Genet. 2018 Nov 1. [Epub ahead of print] >>PubMed-Link<<

Ina Schanze, Jens Bunt, Jonathan W C Lim, Denny Schanze, Ryan J Dean, Marielle Alders, Patricia Blanchet, Tania Attié-Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J Bridges, Megan T Cho, William B Dobyns, Dian Donnai, Jessica Douglas, Dawn L Earl, Timothy J Edwards, Laurence Faivre, Brieana Fregeau, David Genevieve, Marion Gérard, Vincent Gatinois, Muriel Holder-Espinasse, Samuel F Huth, Kosuke Izumi, Bronwyn Kerr, Elodie Lacaze, Phillis Lakeman, Sonal Mahida, Ghayda M Mirzaa, Sian M Morgan, Catherine Nowak, Hilde Peeters, Florence Petit, Daniela T Pilz, Jacques Puechberty, Eyal Reinstein, Jean-Baptiste Rivière, Avni B Santani, Anouck Schneider, Elliott H Sherr, Constance Smith-Hicks, Ilse Wieland, Elaine Zackai, Xiaonan Zhao, Richard M Gronostajski, Martin Zenker, Linda J Richards
30. October 2019 (STOP-FSGS)
Mitochondria Permeability Transition versus Necroptosis in Oxalate-Induced AKI

J Am Soc Nephrol. 2019 Oct; 30 >>PubMed-Link<<

Shrikant Ramesh Mulay, Mohsen M. Honarpisheh, Orestes Foresto-Neto, Chongxu Shi, Jyaysi Desai, Zhi Bo Zhao, Julian A. Marschner, Bastian Popper, Ewa Miriam Buhl, Peter Boor, Andreas Linkermann, Helen Liapis, Rostyslav Bilyy, Martin Herrmann, Paola Romagnani, Ilya Belevich, Eija Jokitalo, Jan U. Becker and Hans-Joachim Anders
29. October 2019 (MitoNet)
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

Orphanet J Rare Dis. 2019 Oct 29.

Catania A1, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M.
28. October 2019 (STOP-FSGS)
Pathology and natural history of organ fibrosis

Curr Opin Pharmacol. 2019 Oct 28;49:82-89 [Epub ahead of print] Review.

Majo J, Klinkhammer BM, Boor P, Tiniakos D.
21. October 2019 (TreatHSP.net)
Bi-allelic Variants in RNF170 Are Associated With Hereditary Spastic Paraplegia

Nat Commun. 2019 Oct 21. >>PubMed-Link<<

Matias Wagner, Daniel P S Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni , Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
15. October 2019 (NEOCYST)
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

J Clin Invest. 2019 Oct 15. pii: 129937. doi: 10.1172/JCI129937. [Epub ahead of print]
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Brix Folsted Andersen C, Bergmann C, Antignac C, Simons M.
9. October 2019 (STOP-FSGS)
Artificial intelligence in nephropathology

Nat Rev Nephrol. 2019 Oct 9. [Epub ahead of print]
Boor P
Details
7. October 2019 (STOP-FSGS)
Cre recombinase toxicity in podocytes, a novel genetic model for FSGS in adolescent mice

Am J Physiol Renal Physiol. 2019 Oct 7. doi: 10.1152/ajprenal.00573.2018. [Epub ahead of print]
Frahsek M, Schulte K, Chia-Gil A, Djudjaj S, Schueler H, Leuchtle K, Smeets B, Dijkman H, Floege J6, Moeller M
1. October 2019 (Treat-ION)
Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation

Stem Cell Res. 2019 Oct;40:101543.

Uysal B, Löffler H, Rosa F, Lerche H, Schwarz N
1. October 2019 (STOP-FSGS)
Generative Adversarial Networks for Facilitating Stain-Independent Supervised & Unsupervised Segmentation

IEEE Trans Med Imaging. 2019 Oct;38(10). Epub 2019 Feb 14. >>PubMedLink<<

Gadermayr M, Gupta L, Appel V, Boor P, Klinkhammer BM, Merhof D.
25. September 2019 (CONNECT-GENERATE)
Fatal PCR-negative herpes simplex virus-1 encephalitis with GABA A receptor antibodies

Neurol Neuroimmunol Neuroinflamm. 2019 Sep 25. >>PubMed-Link<<

Simon Schuster, Ligia Abrante, Jakob Matschke, Marc Lütgehetmann, Brigitte Holst, Mathias Gelderblom, Hanna Braass, Frank Leypoldt, Tim Magnus
24. September 2019 (MitoNet)
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

J Clin Invest. 2019 Sep 24. [Epub ahead of print]
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Péron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan JA, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page MJ, Boesch S, Wortmann SB, Kopajtich R, Stong N, Sperl W, Davis E, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.
Details
20. September 2019 (MitoNet)
Redox-Dependent Loss of Flavin by Mitochondrial Complex I in Brain Ischemia/Reperfusion Injury

Antioxid Redox Signal. 2019 Sep 20. [Epub ahead of print] >>PubMed-Link<<

Anna Stepanova, Sergey Sosunov, Zoya Niatsetskaya, Csaba Konrad, Anatoly A Starkov, Giovanni Manfredi, Ilka Wittig, Vadim Ten, Alexander Galkin
19. September 2019 (STOP-FSGS)
mTOR-mediated podocyte hypertrophy regulates glomerular integrity in mice and humans

JCI Insight. 2019 Sep 19;4(18). pii: 99271. doi: 10.1172/jci.insight.99271.

Puelles VG, van der Wolde JW, Wanner N, Scheppach MW, Cullen-McEwen LA, Bork T, Lindenmeyer MT, Gernhold L, Wong MN, Braun F, Cohen CD, Kett MM, Kuppe C, Kramann R, Saritas T, van Roeyen CR, Moeller MJ, Tribolet L, Rebello R, Sun YB, Li J, Müller-Newen G, Hughson MD, Hoy WE, Person F, Wiech T, Ricardo SD, Kerr PG, Denton KM, Furic L, Huber TB, Nikolic-Paterson DJ, Bertram JF
12. September 2019 (STOP-FSGS)
Collagen-specific molecular imaging of renal fibrosis

Kidney Int 2019 >>PubMed-Link<<

Baues M, Klinkhammer BM, Ehling J, Gremse F, van Zandvoort MAMJ, Reutelingsperger CPM, Daniel C, Amann K, Bábíčková J, Kiessling F, Floege J, Lammers L, Boor P
5. September 2019 (NEOCYST)
Autosomal dominant tubulointerstitial kidney disease

Nat Rev Dis Primers. 2019 Sep 5. [Epub ahead of print] >>PubMed-Link<<

Olivier Devuyst, Eric Olinger, Stefanie Weber, Kai-Uwe Eckardt, Stanislav Kmoch , Luca Rampoldi, Anthony J Bleyer
1. September 2019 (STOP-FSGS)
Extracellular Matrix in Kidney Fibrosis: More Than Just a Scaffold

J Histochem Cytochem. 2019 Sep. [Epub ahead of print] >>PubMed-Link<<

Roman David Bülow, Peter Boor
1. September 2019 (STOP-FSGS)
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children

Pediatr Nephrol. 2019 Sep. [Epub ahead of print] >>PubMed-Link<<

Asaf Vivante, Orna Staretz Chacham, Shirlee Shril, Ruth Schreiber, Shrikant M Mane, Ben Pode-Shakked, Neveen A Soliman, Irene Koneth, Mario Schiffer, Yair Anikster, Friedhelm Hildebrandt
19. August 2019 (STOP-FSGS)
Management of Tamm-Horsfall Protein for Reliable Urinary Analytics

Proteomics Clin Appl. 2019 Aug 19:e1900018. doi: 10.1002/prca.201900018. [Epub ahead of print]
Xu X, Barreiro K, Musante L, Kretz O, Lin H, Zou H, Huber TB, Holthofer H
Details
1. August 2019 (GeNeRARe)
From basic researches to new achievements in therapeutic strategies of KRAS-driven cancers

Cancer Biol Med. 2019 Aug. [Epub ahead of print] >>PubMed-Link<<

Mahsa Saliani, Razieh Jalal, Mohammad Reza Ahmadian
1. August 2019 (GeNeRARe)
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Genet Med. 2019 Aug. [Epub ahead of print] >>PubMed-Link<<

Sina Renner, Helke Schüler, Malik Alawi, Verena Kolbe, Meike Rybczynski, Rixa Woitschach, Sara Sheikhzadeh, Veronika C Stark, Jakob Olfe, Elke Roser, Friederike Sophia Seggewies, Adrian Mahlmann, Maja Hempel, Melanie J Hartmann, Mathias Hillebrand, Dagmar Wieczorek, Alexander Erich Volk, Katja Kloth, Margarete Koch-Hogrebe, Rami Abou Jamra, Diana Mitter, Janine Altmüller, Alexandra Wey-Fabrizius, Christine Petersen, Isabella Rau, Guntram Borck, Christian Kubisch, Thomas S Mir, Yskert von Kodolitsch, Kerstin Kutsche, Georg Rosenberger
1. August 2019 (STOP-FSGS)
Circulating factors cause proteinuria in parabiotic zebrafish

Kidney Int. 2019 Aug. [Epub ahead of print] >>PubMed-Link<<

J Müller-Deile, H Schenk, P Schroder, K Schulze, P Bolaños-Palmieri, F Siegerist, N Endlich, H Haller, M Schiffer
1. August 2019 (STOP-FSGS)
Novel 3D analysis of rapidly progressive glomerulonephritis using optical tissue clearing.

Kidney Int 2019, 96:505-516 >>PubMedLink<<

Puelles VG, Fleck D, Ortz L, Papadouri S, Strieder T, Boehner A, van der Wolde JW, Vogt M, Saritas T, Kuppe C, Fuss A, Menzel S, Klinkhammer BM, Müller-Newen G, Heymann F, Decker L, Braun F, Kretz O, Huber TB, Susaki EA, Ueda HR, Boor P, Floege J, Kramann R, Kurts C, Bertram JF, Spehr M, Nikolic-Paterson DJ, Moeller MJ
30. July 2019 (GAIN)
Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency

Frontiers in Immunology, Volume: ‏ 10, Article Number 1781, Jul 30 2019

Hauck, Fabian; Gennery, Andrew R.; Seidel, Markus G.
30. July 2019 (GAIN)
Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency

Front Immunol. 2019 Jul 30. [Epub ahead of print] >>PubMed-Link<<

Fabian Hauck, Andrew R Gennery, Markus G Seidel
24. July 2019 (STOP-FSGS)
The tetraspanin CD9 controls migration and proliferation of parietal epithelial cells and glomerular disease progression

Nat Commun, 2019 Jul 24; 10(1): p. 3303. 2019 >>PubMedLink<<

Lazareth, H., C. Henique, O. Lenoir, V.G. Puelles, M. Flamant, G. Bollee, C. Fligny,
M. Camus, L. Guyonnet, C. Millien, F. Gaillard, A. Chipont, B. Robin, S. Fabrega, N.
Dhaun, E. Camerer, O. Kretz, F. Grahammer, F. Braun, T.B. Huber, D. Nochy, C.
Mandet, P. Bruneval, L. Mesnard, E. Thervet, A. Karras, F. Le Naour, E. Rubinstein,
C. Boucheix, A. Alexandrou, M.J. Moeller, C. Bouzigues, and P.L. Tharaux
10. July 2019 (STOP-FSGS)
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016. Epub 2019 Jul 10

Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH4, Hugo H, Nakayama M3, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D
10. July 2019 (GeNeRARe)
Cdk5 Deletion Enhances the Anti-inflammatory Potential of GC-Mediated GR Activation During Inflammation

Front Immunol. 2019 Jul 10. [Epub ahead of print] >>PubMed-Link<<

Pauline Pfänder, Miray Fidan, Ute Burret, Lena Lipinski, Sabine Vettorazzi
1. July 2019 (STOP-FSGS)
Novel parietal epithelial cell subpopulations contribute to focal segmental glomerulosclerosis and glomerular tip lesions

Kidney Int. 2019 Jul;96(1):80-93. doi: 10.1016/j.kint.2019.01.037. Epub 2019 Feb 27

Kuppe C, Leuchtle K, Wagner A, Kabgani N, Saritas T, Puelles VG, Smeets B, Hakroush S, van der Vlag J, Boor P, Schiffer M, Gröne HJ, Fogo A, Floege J, Moeller MJ
1. July 2019 (Treat-ION)
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

Ann Clin Transl Neurol. 2019 Jul. [Epub ahead of print] >>PubMed-Link<<

Joohyun Park, Mahmoud Koko, Ulrike B S Hedrich, Andreas Hermann, Kirsten Cremer, Edda Haberlandt, Mona Grimmel, Bader Alhaddad, Stefanie Beck-Woedl, Merle Harrer, Daniela Karall, Lisa Kingelhoefer, Andreas Tzschach, Lars C Matthies, Tim M Strom, Erich Bernd Ringelstein, Marc Sturm, Hartmut Engel, Markus Wolff, Holger Lerche, Tobias B Haack
1. July 2019 (STOP-FSGS)
Postnatal podocyte gain: Is the jury still out?

Puelles VG1, Moeller MJ2

Semin Cell Dev Biol. 2019 Jul;91:147-152. doi: 10.1016/j.semcdb.2018.07.007. Epub 2018 Jul 12
1. July 2019 (STOP-FSGS)
Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex

J Am Soc Nephrol. 2019 Jul. [Epub ahead of print] >>PubMed-Link<<

Irini Tossidou, Beina Teng, Kirstin Worthmann, Janina Müller-Deile, Tilman Jobst-Schwan, Christian Kardinal, Patricia Schroder , Patricia Bolanos-Palmieri, Hermann Haller, Jonas Willerding, Dana M Drost, Laura de Jonge, Thomas Reubold, Susanne Eschenburg, Ruth I Johnson, Mario Schiffer
30. June 2019 (GAIN)
Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency

Clinical Immunology, Vol. 203, pages 59-62, Jun 2019
von Spee-Mayer, Caroline; Koemm, Verena; Wehr, Claudia; et al.
10. June 2019 (STOP-FSGS)
Compression of morbidity in a progeroid mouse model through the attenuation of myostatin/activin signalling

J Cachexia Sarcopenia Muscle. 2019 Jun; 10(3): 662–686. Published online 2019 Mar 27. doi: 10.1002/jcsm.12404

Alyodawi K, Vermeij WP, Omairi S, Kretz O, Hopkinson M, Solagna F, Joch B, Brandt RMC, Barnhoorn S, van Vliet N, Ridwan Y, Essers J, Mitchell R, Morash T, Pasternack A, Ritvos O, Matsakas A, Collins-Hooper H, Huber TB, Hoeijmakers JHJ, Patel K
Details
6. June 2019 (GeNeRARe)
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Am J Hum Genet. 2019 Jun 6. [Epub ahead of print] >>PubMed-Link<<

Yline Capri, Elisabetta Flex, Oliver H F Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca R Lepri, Elaine Suk-Ying Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Cuturilo, Neda S Kazemein Jasemi, Radovan Dvorsky, Kristin G Monaghan, Lisa M Vincent, Hélène Cavé, Alain Verloes, Mohammad R Ahmadian, Marco Tartaglia, Martin Zenker
1. June 2019 (STOP-FSGS)
MIF in kidney diseases : A story of Dr. Jekyll and Mr. Hyde

Pathologe. 2019 Jun. >>PubMed-Link<<

P Boor
1. June 2019 (GAIN)
Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency

Clin Immunol. 2019 Jun. [Epub ahead of print] >>PubMed-Link<<

Caroline von Spee-Mayer, Verena Koemm, Claudia Wehr, Sigune Goldacker, Gerhard Kindle, Alla Bulashevska, Michele Proietti, Bodo Grimbacher, Stephan Ehl, Klaus Warnatz
28. May 2019 (NEOCYST)
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w.

Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Büscher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wühl E, Dötsch J, Schaefer F, Liebau MC
24. May 2019 (STOP-FSGS)
Chemokine CXCL13 as a New Systemic Biomarker for B-Cell Involvement in Acute T Cell-Mediated Kidney Allograft Rejection

Int J Mol Sci. 2019 May 24;20(10). pii: E2552. doi: 10.3390/ijms20102552

Schiffer L, Wiehler F, Bräsen JH, Gwinner W, Greite R, Kreimann K, Thorenz A, Derlin K, Teng B, Rong S, von Vietinghoff S, Haller H, Mengel M, Pape L, Lerch C, Schiffer M, Gueler F
22. May 2019 (STOP-FSGS)
Extracellular Matrix in Kidney Fibrosis: More Than Just a Scaffold

J Histochem Cytochem. 2019 May 22. doi: 10.1369/0022155419849388. [Epub ahead of print]
Bülow RD, Boor P
22. May 2019 (NEOCYST)
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease (ADPKD) in children and young people

Nat Rev Nephrol. 2019 May 22. doi: 10.1038/s41581-019-0155-2

C. Gimpel, C. Bergmann, D.Bockenhauer, L. Breysem, M. Cadnapaphornchai, M.Cetiner, J. Dudley, F Emma, M. Konrad, T. Harris, P. Harris, J. König, M.Liebau, M. Marlais, D.Mekahli, A.Metcalfe, J. Oh, R. Perrone, M. Sinha, A. Titieni, R. Torra, S. Weber, P. Winyard, and F.Schaefer
21. May 2019 (GeNeRARe)
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Human Molecular Genetics, Published 21 May 2019

Marialetizia Motta,Lena Sagi-Dain, Oliver H.F. Krumbach, Andreas , Amir Peleg, Alina
German, Christina Lissewski, Simona Coppola, Francesca Pantaleoni, Luisa Kocherscheid,
Franziska Altmüller, Denny Schanze, Thushiha Logeswaran, Soheyla Chahrokh-Zadeh, Anna
Munzig, Saeideh Nakhaei-Rad, Hélène Cavé, Mohammad R. Ahmadian, Marco Tartaglia,
Martin Zenker
13. May 2019 (GeNeRARe)
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Am J Hum Genet. 2019 May 13. pii: S0002-9297(19)30161-2. doi: 10.1016/j.ajhg.2019.04.013. [Epub ahead of print]
Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M.
Details
7. May 2019 (STOP-FSGS)
MiR-21 is up-regulated in urinary exosomes of chronic kidney disease patients and after glomerular injury

J Cell Mol Med. 2019 May 7. doi: 10.1111/jcmm.14317. [Epub ahead of print]
Lange T, Artelt N, Kindt F, Stracke S, Rettig R, Lendeckel U, Chadjichristos CE, Kavvadas P, Chatziantoniou C, Endlich K, Endlich N.
7. May 2019 (GeNeRARe)
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

J Am Coll Cardiol. 2019 May 7;73(17):2237-2239. doi: 10.1016/j.jacc.2019.01.066.

Andelfinger G, Marquis C, Raboisson MJ, Théoret Y, Waldmüller S, Wiegand G, Gelb BD, Zenker M, Delrue MA, Hofbeck M
7. May 2019 (GeNeRARe)
Deregulation of Hepatic Mek1/2⁻Erk1/2 Signaling Module in Iron Overload Conditions

Pharmaceuticals (Basel). 2019 May 7;12(2). pii: E70. doi: 10.3390/ph12020070.

Tangudu NK, Buth N, Strnad P, Cirstea IC, Spasić MV
7. May 2019 (GeNeRARe)
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

J Am Coll Cardiol. 2019 May 7. [Epub ahead of print] >>PubMed-Link<<

Gregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, Yves Théoret, Stephan Waldmüller, Gesa Wiegand, Bruce D Gelb, Martin Zenker, Marie-Ange Delrue, Michael Hofbeck
7. May 2019 (GeNeRARe)
Deregulation of Hepatic Mek1/2⁻Erk1/2 Signaling Module in Iron Overload Conditions

Pharmaceuticals (Basel). 2019 May 7. [Epub ahead of print] >>PubMed-Link<<

Naveen Kumar Tangudu, Nils Buth, Pavel Strnad, Ion C Cirstea, Maja Vujić Spasić
1. May 2019 (CONNECT-GENERATE)
Neuronal autoantibodies associated with cognitive impairment in melanoma patients

Ann Oncol. 2019 May 1. >>PubMed-Link<<

F Bartels, T Strönisch, K Farmer, K Rentzsch, F Kiecker, C Finke
1. May 2019 (CONNECT-GENERATE)
IgA autoantibodies against native myelin basic protein in a patient with MS

Neurol Neuroimmunol Neuroinflamm. 2019 May 1. >>PubMed-Link<<

Heike Schumacher, Nina K Wenke, Jakob Kreye, Markus Höltje, Katrin Marcus, Caroline May, Harald Prüss
1. May 2019 (MitoNet)
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Hum Mutat. 2019 May. >>PubMed-Link<<

Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk
1. May 2019 (STOP-FSGS)
Evolving complexity of MIF signaling

Cell Signal. 2019 May;57:76-88. doi: 10.1016/j.cellsig.2019.01.006. Epub 2019 Jan 23

Jankauskas SS, Wong DWL, Bucala R, Djudjaj S, Boor P
1. May 2019 (Treat-ION)
Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation

Stem Cell Res. 2019 May;37:101445

Schwarz N, Uysal B, Rosa F, Löffler H, Mau-Holzmann UA, Liebau S, Lerche H.
1. May 2019 (GeNeRARe)
Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

Pigment Cell Melanoma Res. 2019 May;32(3):470-473. doi: 10.1111/pcmr.12761. Epub 2018 Dec 21

Ulrich M, Tinschert S, Siebert E, Franke I, Tüting T, Ulrich J, Schanze D, Wieland I, Zenker M
30. April 2019 (STOP-FSGS)
Anaerobic Glycolysis Maintains the Glomerular Filtration Barrier Independent of Mitochondrial Metabolism and Dynamics

Brinkkoetter PT, Bork T, Salou S, Liang W, Mizi A, Özel C, Koehler S, Hagmann HH, Ising C, Kuczkowski A, Schnyder S, Abed A2, Schermer B, Benzing T, Kretz O, Puelles VG, Lagies S, Schlimpert M, Kammerer B, Handschin C, Schell C, Huber TB

Cell Rep. 2019 Apr 30;27(5):1551-1566.e5. doi: 10.1016/j.celrep.2019.04.012
17. April 2019 (STOP-FSGS)
Elastin imaging enables non-invasive staging and treatment monitoring of kidney fibrosis

Sci Transl Med 2019, 11:486

Sun Q, Baues M, Klinkhammer BM, Ehling J, Djudjaj S, Drude NI, Daniel C, Amann K, Kramann R, Kim H, Saez-Rodriguez J, Weiskirchen R, Onthank DC, Botnar RM, Kiessling F, Floege J, Lammers T, Boor P
1. April 2019 (NEOCYST)
Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis

Kidney Int. 2019 Apr;. [Epub ahead of print] >>PubMed-Link<<

Manaswita Jain, Rainer W J Kaiser, Katrin Bohl, Martin Hoehne, Heike Göbel, Malte P Bartram, Sandra Habbig, Roman-Ulrich Müller, Agnes B Fogo, Thomas Benzing, Bernhard Schermer, Katja Höpker, Gisela G Slaats
15. March 2019 (STOP-FSGS)
Novel 3D analysis using optical tissue clearing documents the evolution of murine rapidly progressive glomerulonephritis

Kidney Int. 2019 Mar 15. pii: S0085-2538(19)30318-7. doi: 10.1016/j.kint.2019.02.034. [Epub ahead of print]
Puelles VG, Fleck D, Ortz L, Papadouri S, Strieder T, Böhner AMC, van der Wolde JW, Vogt M, Saritas T, Kuppe C, Fuss A, Menzel S, Klinkhammer BM, Müller-Newen G, Heymann F, Decker L, Braun F, Kretz O, Huber TB, Susaki EA, Ueda HR, Boor P, Floege J, Kramann R, Kurts C, Bertram JF, Spehr M, Nikolic-Paterson DJ, Moeller MJ
15. March 2019 (GeNeRARe)
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Hum Mol Genet. 2019 Mar 15. [Epub ahead of print] >>PubMed-Link<<

Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider-Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion C Cirstea, Marco Tartaglia
4. March 2019 (STOP-FSGS)
Mutation of microphthalmia-associated transcription factor (mitf) in zebrafish sensitizes for glomerulopathy

Biol Open. 2019 Mar. [Epub ahead of print] >>PubMed-Link<<

Janina Müller-Deile, Heiko Schenk, Philipp Niggemann, Patricia Bolaños-Palmieri, Beina Teng, Alysha Higgs, Lynne Staggs, Hermann Haller, Patricia Schroder, Mario Schiffer
1. March 2019 (MitoNet)
Charles Bonnet syndrome in Leber’s hereditary optic neuropathy

J Neurol. 2019 Mar. >>PubMed-Link<<

Hana Kolarova, Claudia B Catarino, Claudia Priglinger, Thomas Klopstock
1. March 2019 (NEOCYST)
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement

Radiology. 2019 Mar. [Epub ahead of print] >>PubMed-Link<<

Charlotte Gimpel, E Fred Avni, Luc Breysem, Kathrin Burgmaier, Anna Caroli, Metin Cetiner, Dieter Haffner, Erum A Hartung, Doris Franke, Jens König, Max C Liebau, Djalila Mekahli, Albert C M Ong, Lars Pape, Andrea Titieni, Roser Torra, Paul J D Winyard, Franz Schaefer
28. February 2019 (STOP-FSGS)
Identification of platelet-derived growth factor C as a mediator of both renal fibrosis and hypertension

Kidney Int. 2019 May; 95(5):1103-1119. doi: 10.1016/j.kint.2018.11.031. Epub 2019 Feb 28.

van Roeyen CRC, Martin IV2, Drescher A, Schuett KA, Hermert D, Raffetseder U, Otten S, Buhl EM, Braun GS, Kuppe C, Liehn E, Boor P, Weiskirchen R, Eriksson U, Gross O, Eitner F, Floege J, Ostendorf T
18. February 2019 (NEOCYST)
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children

Sci Rep. 2019 Feb 18;9(1):2225. doi: 10.1038/s41598-019-38713-5

Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P.
14. February 2019 (STOP-FSGS)
Generative Adversarial Networks for Facilitating Stain-Independent Supervised & Unsupervised Segmentation: A Study on Kidney Histology

IEEE Trans Med Imaging (TMI) 2019, doi: 10.1109/TMI.2019.2899364

Gadermayr M, Gupta L, Appel V, Boor P, Klinkhammer BM, Merhof D
1. February 2019 (STOP-FSGS)
Cellular and molecular mechanisms of kidney fibrosis

Mol Aspects Med. 2019 Feb;65:16-36. doi: 10.1016/j.mam.2018.06.002. Epub 2018 Jun 22

Djudjaj S, Boor P
1. February 2019 (STOP-FSGS)
Conference, Management and treatment of glomerular diseases (part 2): conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Kidney Int, 95(2): p. 281-295. 2019 Feb >>PubMedLink<<

Rovin, B.H., D.J. Caster, D.C. Cattran, K.L. Gibson, J.J. Hogan, M.J. Moeller, D.
Roccatello, M. Cheung, D.C. Wheeler, W.C. Winkelmayer, J. Floege, and P.
30. January 2019 (NEOCYST)
Management von Ziliopathien im Kindes- und Jugendalter

Der Nephrologe 2019, doi.org/10.1007/s11560-019-0312-4

J. König, S. Habbig, M.C. Liebau
24. January 2019 (GeNeRARe)
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Genet Med. 2019 Jan 24. doi: 10.1038/s41436-019-0435-z. [Epub ahead of print]
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G.
21. January 2019 (STOP-FSGS)
DNA Methyltransferase 1 Controls Nephron Progenitor Cell Renewal and Differentiation

J Am Soc Nephrol. 2019 Jan;30(1):63-78. doi: 10.1681/ASN.2018070736. Epub 2018 Dec 5.

Wanner N, Vornweg J, Combes A, Wilson S, Plappert J, Rafflenbeul G, Puelles VG, Rahman RU, Liwinski T, Lindner S, Grahammer F, Kretz O, Wlodek ME, Romano T, Moritz KM, Boerries M, Busch H, Bonn S, Little MH, Bechtel-Walz W, Huber TB.
Details
21. January 2019 (NEOCYST)
HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

Pediatr Nephrol. 2019 Jan 21. [Epub ahead of print] >>PubMed-Link<<

Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S.
10. January 2019 (NEOCYST)
Diagnostic Utility of Exome Sequencing for Kidney Disease

N Engl J Med. 2019 Jan 10. [Epub ahead of print] >>PubMed-Link<<

Emily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, Slavé Petrovski, Vimla S Aggarwa, Hila Milo-Rasouly, Yifu Li, Junying Zhang, Jordan Nestor, Priya Krithivasan, Wan Yee Lam, Adele Mitrotti, Stacy Piva, Byum H Kil, Debanjana Chatterjee, Rachel Reingold, Drew Bradbury, Michael DiVecchia, Holly Snyder, Xueru Mu, Karla Mehl, Olivia Balderes, David A Fasel, Chunhua Weng, Jai Radhakrishnan, Pietro Canetta, Gerald B Appel, Andrew S Bomback, Wooin Ahn, Natalie S Uy 1 , Shumyle Alam, David J Cohen, Russell J Crew, Geoffrey K Dube, Maya K Rao, Sitharthan Kamalakaran, Brett Copeland, Zhong Ren, Joshua Bridgers, Colin D Malone, Caroline M Mebane, Neha Dagaonkar, Bengt C Fellström, Carolina Haefliger, Sumit Mohan, Simone Sanna-Cherchi, Krzysztof Kiryluk, Jan Fleckner, Ruth March, Adam Platt, David B Goldstein, Ali G Gharavi
1. January 2019 (CONNECT-GENERATE)
Management and prognostic markers in patients with autoimmune encephalitis requiring ICU treatment

Neurol Neuroimmunol Neuroinflamm. 2018 Oct 30;6(1):e514. eCollection 2019 Jan >>>>pub med<<

Schubert J, Brämer D, Huttner HB, Gerner ST, Fuhrer H, Melzer N, Dik A, Prüss H, Ly LT, Fuchs K, Leypoldt F, Nissen G, Schirotzek I, Dohmen C, Bösel J, Lewerenz J, Thaler F, Kraft A, Juranek A, Ringelstein M, Sühs KW1, Urbanek C, Scherag A, Geis C, Witte OW, Günther A; GENERATE and IGNITE network
1. January 2019 (AID-Net)
Publication list AID-NET
Details
1. January 2019 (DysTract)
Publication list DysTract
Details
1. January 2019 (PID-Net)
PID-NET publications
Details
1. January 2019 (Geramy)
GERAMY publication list
Details
1. January 2019 (FACE)
Publication list FACE
Details
1. January 2019 (Carpud)
Publication list CARPuD
Details
1. January 2019 (GALENUS)
Publication list GALENUS
Details
1. January 2019 (MitoNet)
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Brain. 2019 Jan 1.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.
1. January 2019 (CHROMATIN-Net)
Publication list CHROMATIN-Net
Details
1. January 2019 (DysTract)
Publikationsliste des Forschungsverbunds Dystract
Details
1. January 2019 (CMT-net)
Publication list CMT-NET
Details

Publications of the Research Network

20. February 2024 (GeNeRARe)RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

1. February 2024 (MyPred)Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

17. January 2024 (MitoNet)Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

8. November 2023 (GAIN)Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

3. October 2023 (TreatHSP.net)SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

20. March 2024 (TreatHSP.net) FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change

13. March 2024 (MitoNet) Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

12. March 2024 (CONNECT-GENERATE) [18F]DPA-714-PET-MRI reveals pronounced innate immunity in human anti-LGI1 and anti-CASPR2 limbic encephalitis

8. March 2024 (NEOCYST) Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom [Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]

1. March 2024 (HiChol) Odevixibat treatment in an adult patient with advanced icteric progressive cholestatic liver disease

1. March 2024 (CONNECT-GENERATE) KCNA2 IgG autoimmunity in neuropsychiatric diseases

1. March 2024 (STOP-FSGS) Zebrafish as a model for podocyte research

1. March 2024 (MyPred) Somatic variant profiling in chronic phase pediatric chronic myeloid leukemia

28. February 2024 (STOP-FSGS) Increased blood pressure after nonsevere COVID-19

28. February 2024 (MitoNet) Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

21. February 2024 (TreatHSP.net) Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia

21. February 2024 (CMT-net) Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases

20. February 2024 (GeNeRARe) RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

20. February 2024 (GAIN) Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity

20. February 2024 (MitoNet) Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

16. February 2024 (TreatHSP.net) Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11

13. February 2024 (TreatHSP.net) Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

2. February 2024 (TreatHSP.net) Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

1. February 2024 (STOP-FSGS) Inhibition of the renal apical sodium dependent bile acid transporter prevents cholemic nephropathy in mice with obstructive cholestasis

1. February 2024 (MyPred) Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

1. February 2024 (MyPred) Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup

27. January 2024 (STOP-FSGS) The podocytes’ inflammatory responses in experimental GN are independent of canonical MYD88-dependent toll-like receptor signaling

17. January 2024 (MitoNet) Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

11. January 2024 (GAIN) Disrupted degradative sorting of TLR7 is associated with human lupus

11. January 2024 (GAIN) UNC93B1 variants underlie TLR7-dependent autoimmunity

1. January 2024 (GAIN) PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

1. January 2024 (TreatHSP.net) Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

1. January 2024 (GAIN) Hypogammaglobulinemia and immune dysregulation-not just 2 sides of a coin

20. December 2023 (TreatHSP.net) Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

19. December 2023 (STOP-FSGS) In vivo characterization of a podocyte-expressed short podocin isoform

13. December 2023 (STOP-FSGS) Research on Rare Diseases in Germany – Using small fish and super-resolution microscopy to track down a rare disease

13. December 2023 (GAIN) Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases

13. December 2023 (ADDRess) Research on Rare Diseases in Germany – The cancer predisposition syndrome registry

7. December 2023 (GAIN) Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD

1. December 2023 (Treat-ION) SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

1. December 2023 (STOP-FSGS) A Novel High-Content Screening Assay Identified Belinostat as Protective in a FSGS-Like Zebrafish Model

28. November 2023 (STOP-FSGS) Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

26. November 2023 (MyPred) Development of MDS in Pediatric Patients with GATA2 Deficiency: Increased Histone Trimethylation and Deregulated Apoptosis as Potential Drivers of Transformation

14. November 2023 (MitoNet) Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

8. November 2023 (GAIN) Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

8. November 2023 (GAIN) Telomere biology disorders may manifest as common variable immunodeficiency (CVID)

7. November 2023 (ADDRess) Medical students’ knowledge on cancer predisposition syndromes and attitude toward eHealth

5. November 2023 (GAIN) JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

1. November 2023 (STOP-FSGS) Introduction of a novel chimeric active immunization mouse model of PLA2R1-associated membranous nephropathy

1. November 2023 (STOP-FSGS) JNKs protect from cholestatic liver disease progression by modulating Apelin signalling

1. November 2023 (GAIN) Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)

31. October 2023 (TreatHSP.net) The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells

31. October 2023 (CONNECT-GENERATE) Human NMDAR autoantibodies disrupt excitatory-inhibitory balance, leading to hippocampal network hypersynchrony

24. October 2023 (MyPred) Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

24. October 2023 (CONNECT-GENERATE) Impaired functional connectivity of the hippocampus in translational murine models of NMDA-receptor antibody associated neuropsychiatric pathology

17. October 2023 (NEOCYST) A novel role for the chloride intracellular channel protein Clic5 in ciliary function

16. October 2023 (STOP-FSGS) Banff Digital Pathology Working Group: Image Bank, Artificial Intelligence Algorithm, and Challenge Trial Developments

12. October 2023 (GeNeRARe) Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication

11. October 2023 (Treat-ION) Voltage-gated calcium channels in genetic epilepsies

9. October 2023 (HiChol) Insulin determines TGF-β effects on HNF4α transcription in hepatocytes

3. October 2023 (TreatHSP.net) SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

3. October 2023 (GAIN) Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards

3. October 2023 (CONNECT-GENERATE) Post-herpes simplex virus encephalitis autoimmunity: more the rule than the exception

1. October 2023 (GAIN) Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

1. October 2023 (MyPred) Down syndrome and leukemia: from basic mechanisms to clinical advances

1. October 2023 (STOP-FSGS) Kidney fibrosis: Emerging diagnostic and therapeutic strategies

25. September 2023 (NEOCYST) Emerging principles of primary cilia dynamics in controlling tissue organization and function

23. September 2023 (GAIN) Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry

22. September 2023 (MyPred) C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

22. September 2023 (GAIN) C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

21. September 2023 (GAIN) Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood

20. September 2023 (STOP-FSGS) DISCERN: deep single-cell expression reconstruction for improved cell clustering and cell subtype and state detection

7. September 2023 (GeNeRARe) Atrial fibrillation-associated electrical remodelling in human induced pluripotent stem cell-derived atrial cardiomyocytes: a novel pathway for antiarrhythmic therapy development

1. September 2023 (MyPred) Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

1. September 2023 (NEOCYST) Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management

29. August 2023 (CONNECT-GENERATE) Synapsin autoantibodies during pregnancy are associated with fetal abnormalities

29. August 2023 (TreatHSP.net) Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning

14. August 2023 (STOP-FSGS) An integrated organoid omics map extends modeling potential of kidney disease

7. August 2023 (STOP-FSGS) Extending the landscape of omics technologies by pathomics

20. February 2024 (GeNeRARe)
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

1. February 2024 (MyPred)
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

17. January 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

8. November 2023 (GAIN)
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

3. October 2023 (TreatHSP.net)
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

20. March 2024 (TreatHSP.net)
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change

13. March 2024 (MitoNet)
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

12. March 2024 (CONNECT-GENERATE)
[18F]DPA-714-PET-MRI reveals pronounced innate immunity in human anti-LGI1 and anti-CASPR2 limbic encephalitis

8. March 2024 (NEOCYST)
Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom [Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]

1. March 2024 (HiChol)
Odevixibat treatment in an adult patient with advanced icteric progressive cholestatic liver disease

1. March 2024 (CONNECT-GENERATE)
KCNA2 IgG autoimmunity in neuropsychiatric diseases

1. March 2024 (STOP-FSGS)
Zebrafish as a model for podocyte research

1. March 2024 (MyPred)
Somatic variant profiling in chronic phase pediatric chronic myeloid leukemia

28. February 2024 (STOP-FSGS)
Increased blood pressure after nonsevere COVID-19

28. February 2024 (MitoNet)
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

21. February 2024 (TreatHSP.net)
Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia

21. February 2024 (CMT-net)
Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases

20. February 2024 (GeNeRARe)
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

20. February 2024 (GAIN)
Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity

20. February 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

16. February 2024 (TreatHSP.net)
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11

13. February 2024 (TreatHSP.net)
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

2. February 2024 (TreatHSP.net)
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

1. February 2024 (STOP-FSGS)
Inhibition of the renal apical sodium dependent bile acid transporter prevents cholemic nephropathy in mice with obstructive cholestasis

1. February 2024 (MyPred)
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome

1. February 2024 (MyPred)
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup

27. January 2024 (STOP-FSGS)
The podocytes’ inflammatory responses in experimental GN are independent of canonical MYD88-dependent toll-like receptor signaling

17. January 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

11. January 2024 (GAIN)
Disrupted degradative sorting of TLR7 is associated with human lupus

11. January 2024 (GAIN)
UNC93B1 variants underlie TLR7-dependent autoimmunity

1. January 2024 (GAIN)
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

1. January 2024 (TreatHSP.net)
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

1. January 2024 (GAIN)
Hypogammaglobulinemia and immune dysregulation-not just 2 sides of a coin

20. December 2023 (TreatHSP.net)
Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

19. December 2023 (STOP-FSGS)
In vivo characterization of a podocyte-expressed short podocin isoform

13. December 2023 (STOP-FSGS)
Research on Rare Diseases in Germany – Using small fish and super-resolution microscopy to track down a rare disease

13. December 2023 (GAIN)
Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases

13. December 2023 (ADDRess)
Research on Rare Diseases in Germany – The cancer predisposition syndrome registry

7. December 2023 (GAIN)
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD

1. December 2023 (Treat-ION)
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

1. December 2023 (STOP-FSGS)
A Novel High-Content Screening Assay Identified Belinostat as Protective in a FSGS-Like Zebrafish Model

28. November 2023 (STOP-FSGS)
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

26. November 2023 (MyPred)
Development of MDS in Pediatric Patients with GATA2 Deficiency: Increased Histone Trimethylation and Deregulated Apoptosis as Potential Drivers of Transformation

14. November 2023 (MitoNet)
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

8. November 2023 (GAIN)
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

8. November 2023 (GAIN)
Telomere biology disorders may manifest as common variable immunodeficiency (CVID)

7. November 2023 (ADDRess)
Medical students’ knowledge on cancer predisposition syndromes and attitude toward eHealth

5. November 2023 (GAIN)
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

1. November 2023 (STOP-FSGS)
Introduction of a novel chimeric active immunization mouse model of PLA2R1-associated membranous nephropathy

1. November 2023 (STOP-FSGS)
JNKs protect from cholestatic liver disease progression by modulating Apelin signalling

1. November 2023 (GAIN)
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)

31. October 2023 (TreatHSP.net)
The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells

31. October 2023 (CONNECT-GENERATE)
Human NMDAR autoantibodies disrupt excitatory-inhibitory balance, leading to hippocampal network hypersynchrony

24. October 2023 (MyPred)
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

24. October 2023 (CONNECT-GENERATE)
Impaired functional connectivity of the hippocampus in translational murine models of NMDA-receptor antibody associated neuropsychiatric pathology

17. October 2023 (NEOCYST)
A novel role for the chloride intracellular channel protein Clic5 in ciliary function

16. October 2023 (STOP-FSGS)
Banff Digital Pathology Working Group: Image Bank, Artificial Intelligence Algorithm, and Challenge Trial Developments

12. October 2023 (GeNeRARe)
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication

11. October 2023 (Treat-ION)
Voltage-gated calcium channels in genetic epilepsies

9. October 2023 (HiChol)
Insulin determines TGF-β effects on HNF4α transcription in hepatocytes

3. October 2023 (TreatHSP.net)
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

3. October 2023 (GAIN)
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards

3. October 2023 (CONNECT-GENERATE)
Post-herpes simplex virus encephalitis autoimmunity: more the rule than the exception

1. October 2023 (GAIN)
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

1. October 2023 (MyPred)
Down syndrome and leukemia: from basic mechanisms to clinical advances

1. October 2023 (STOP-FSGS)
Kidney fibrosis: Emerging diagnostic and therapeutic strategies

25. September 2023 (NEOCYST)
Emerging principles of primary cilia dynamics in controlling tissue organization and function

23. September 2023 (GAIN)
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry

22. September 2023 (MyPred)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

22. September 2023 (GAIN)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib

21. September 2023 (GAIN)
Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood

20. September 2023 (STOP-FSGS)
DISCERN: deep single-cell expression reconstruction for improved cell clustering and cell subtype and state detection

7. September 2023 (GeNeRARe)
Atrial fibrillation-associated electrical remodelling in human induced pluripotent stem cell-derived atrial cardiomyocytes: a novel pathway for antiarrhythmic therapy development

1. September 2023 (MyPred)
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

1. September 2023 (NEOCYST)
Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management

29. August 2023 (CONNECT-GENERATE)
Synapsin autoantibodies during pregnancy are associated with fetal abnormalities

29. August 2023 (TreatHSP.net)
Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning

14. August 2023 (STOP-FSGS)
An integrated organoid omics map extends modeling potential of kidney disease

7. August 2023 (STOP-FSGS)
Extending the landscape of omics technologies by pathomics

5. August 2023 (GAIN)
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9