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13. August 2019 (CHROMATIN-Net)
Disease Modeling of Neuropsychiatric Brain Disorders Using Human Stem Cell-Based Neural Models
Curr Top Behav Neurosci. 2019 Aug 13. doi: 10.1007/7854_2019_111. [Epub ahead of print]
Kaindl J, Winner B
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13. August 2019 (CHROMATIN-Net)
Disease Modeling of Neuropsychiatric Brain Disorders Using Human Stem Cell-Based Neural Models
Curr Top Behav Neurosci. 2019 Aug 13. doi: 10.1007/7854_2019_111. [Epub ahead of print]
Kaindl J, Winner B
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4. July 2019 (CHROMATIN-Net)
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects
Nat Commun. 2019 Jul 4;10(1):2966. doi: 10.1038/s41467-019-10849-y
Filatova A, Rey LK, Lechler MB, Schaper J, Hempel M, Posmyk R, Szczaluba K, Santen GWE, Wieczorek D, Nuber U
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10. May 2019 (CHROMATIN-Net)
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability
BMC Cancer. 2019 May 10;19(1):435
Popp B, Agaimy A, Kraus C, Knaup KX, Ekici AB, Uebe S, Reis A, Wiesener M, Zweier C.(2019)
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25. January 2019 (CHROMATIN-Net)
Pathogenic variants in USP cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
Genet Med. 2019 doi: 10.1038/s41436-019-0433-1. [Epub ahead of print]
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D,, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM,, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP (2019)
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1. January 2019 (CHROMATIN-Net)
Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors
EBioMedicine. 2019 Jan;39:401-408. doi: 10.1016/j.ebiom.2018.11.042. Epub 2018 Nov 28.
Namer B, Schmidt D, Eberhardt E, Maroni M, Dorfmeister E, Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kohl Z, Schüttler J, Kurth I, Warncke T, Jorum E, Winner B, Lampert A.
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6. December 2018 (CHROMATIN-Net)
Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons
Front Neurosci. 2018 Dec 6;12:914. doi: 10.3389/fnins.2018.00914. eCollection 2018
Pozner T, Schray A, Regensburger M, Lie DC, Schlötzer-Schrehardt U, Winkler J, Turan S, Winner B.
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21. November 2018 (CHROMATIN-Net)
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Sci Rep. 2018 Nov 21;8(1):17201. doi: 10.1038/s41598-018-35506-0.
Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Plötz S, Farrell M, Trautmann U, Kraus C, Ekici AB, Asadollahi R, Regensburger M, Günther K, Rauch A, Edenhofer F, Winkler J, Winner B, Reis A.
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19. November 2018 (CHROMATIN-Net)
Zooming in on Cryopreservation of hiPSCs and Neural Derivatives: A Dual-Center Study Using Adherent Vitrification
Stem Cells Transl Med. 2018 Nov 19. doi: 10.1002/sctm.18-0121.
Kaindl J, Meiser I, Majer J, Sommer A, Krach F, Katsen-Globa A, Winkler J, Zimmermann H, Neubauer JC, Winner B.
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19. September 2018 (CHROMATIN-Net)
FoxO Function Is Essential for Maintenance of Autophagic Flux and Neuronal Morphogenesis in Adult Neurogenesis
Neuron. 99:1188-1203
Schäffner I, Minakaki G, Khan MA, Balta EA, Schlötzer-Schrehardt U, Schwarz TJ, Beckervordersandforth R, Winner B, Webb AE, DePinho RA, Paik J, Wurst W, Klucken J, Lie DC
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17. July 2018 (CHROMATIN-Net)
A monocyte gene expression signature in the early clinical course of Parkinson’s disease
Sci Rep. 8:10757
Schlachetzki JCM, Prots I, Tao J, Chun HB, Saijo K, Gosselin D, Winner B, Glass CK, Winkler J (2018)
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11. July 2018 (CHROMATIN-Net)
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Nat Rev Genet. 2018 Jul 11. doi: 10.1038/s41576-018-0031-0.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O’Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC
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10. July 2018 (CHROMATIN-Net)
α -Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies
Proc Natl Acad Sci USA. 115:7813–7818.
Prots I, Grosch J, Brazdis RM, Simmnacher K, Veber V, Havlicek S, Hannappel C, Krach F, Krumbiegel M, Schütz O, Reis A, Wrasidlo W, Galasko DR, Groemer TW, Masliah E, Schlötzer-Schrehardt U, Xiang W, Winkler J, Winner B
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10. July 2018 (CHROMATIN-Net)
Sporadic Parkinson’s disease derived neuronal cells show disease-specific mRNA and small RNA signatures with abundant deregulation of piRNAs
Acta Neuropathol Commun 2018
Schulze M, Sommer A, Plötz S, Farrell M, Winner B, Grosch J, Winkler J, Riemenschneider MJ
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5. July 2018 (CHROMATIN-Net)
Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson’s Disease
Cell Stem Cell. 23:123-131.
Sommer A, Maxreiter F, Krach F, Fadler T, Grosch J, Maroni M, Graef D, Eberhardt E, Riemenschneider MJ, Yeo GW, Kohl Z, Xiang W, Gage FH, Winkler J, Prots I, Winner B
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3. May 2018 (CHROMATIN-Net)
Impact of Swiprosin-1/Efhd2 on adult hippocampal neurogenesis
Stem Cell Reports 10:347-355(2018)
Regensburger M, Prots I, Reimer D, Brachs S, Loskarn S, Lie DC, Mielenz D, Winner B
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26. March 2018 (CHROMATIN-Net)
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014.
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT; Deciphering Developmental Disorders Study, Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB2, Reis A.
Details
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20. December 2017 (CHROMATIN-Net)
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element
PLoS Genet. 2017 Dec 20;13(12):e1007137. doi: 10.1371/journal.pgen.1007137. eCollection 2017 Dec
Zuin J, Casa V, Pozojevic J, Kolovos P, van den Hout MCGN, van Ijcken WFJ, Parenti I, Braunholz D, Baron Y, Watrin E, Kaiser FJ, Wendt KS.
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15. November 2017 (CHROMATIN-Net)
Novel mosaic variants in two patients with Cornelia de Lange syndrome
Eur J Med Genet. 2017 Nov 15. pii: S1769-7212(17)30498-6. doi: 10.1016/j.ejmg.2017.11.004.
Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.
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9. November 2017 (CHROMATIN-Net)
Oligomer-prone E57K-mutant alpha-synuclein exacerbates integration deficit of adult hippocampal newborn neurons in transgenic mice
Brain Struc Func 223:1357-1368.
Regensburger M, Schreglmann SR, Stoll S, Rockenstein E, Loskarn S, Xiang W, Masliah E, Winner B
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21. September 2017 (CHROMATIN-Net)
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y.
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26. May 2017 (CHROMATIN-Net)
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, Patrick DF, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.
Am J Med Genet A. 2017 May 26. doi: 10.1002/ajmg.a.38279. [Epub ahead of print]
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9. March 2017 (CHROMATIN-Net)
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y.
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.
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23. February 2017 (CHROMATIN-Net)
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome
Int J Mol Sci. 2017 Feb 23;18(3). pii: E481. doi: 10.3390/ijms18030481
Puisac B, Teresa-Rodrigo ME, Hernández-Marcos M, Baquero-Montoya C, Gil-Rodríguez MC, Visnes T, Bot C, Gómez-Puertas P, Kaiser FJ, Ramos FJ, Ström L, Pié J
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25. January 2017 (CHROMATIN-Net)
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype
Hum Genet. 136:297-305.
Bramswig NC, Caluseriu O, Lüdecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM, Wieczorek D. (2017)
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29. July 2016 (CHROMATIN-Net)
Epigenetic dynamics of monocyte-to-macrophage differentiation
Epigenetics Chromatin 9:33.
Wallner S, Schröder C, Leitão E, Berulava T, Haak C, Beißer D, Rahmann S, Richter AS, Manke T, Bönisch U, Arrigoni L, Fröhler S, Klironomos F, Chen W, Rajewsky N, Müller F, Ebert P, Lengauer T, Barann M, Rosenstiel P, Gasparoni G, Nordström K, Walter J, Brors B, Zipprich G, Felder B, Klein-Hitpass L, Attenberger C, Schmitz G, Horsthemke B
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3. May 2016 (CHROMATIN-Net)
Rescue of GSK3/ß-Catenin-dependent human neuronal precursor proliferation defects in spatacsin-linked motor neuron disease
Ann Neurol 79:826-840.(2016)
Mishra HK, Prots I, Havlicek S, Kohl Z, Perez-Branguli F, Boerstler T, Anneser L, Minakaki G, Wend H, Hampl M, Leone M, Brückner M, Klucken J, Reis A, Boyer L, Schuierer G, Behrens J, Lampert A, Engel FB, Gage FH, Winkler J, Winner B