NIRK - Network for Ichthyoses
The network for ichthyoses and related keratinization disorders (NIRK) is an initiative funded by the Federal Ministry for Education and Research (BMBF) of the German Government. This network started in October 2003. The Central Head Office of this nation-wide (Germany) network and two projects operate within the University Hospital Muenster (UKM).
Ichthyoses are a group of rare, generalized genetic keratinization disorders which are associated with marked scaling and often a severe inflammation of the skin. These symptoms result in severe physical and psychological handicaps and have dramatic impacts on the quality of life.
A better understanding of the molecular genetic basis of these disorders and of the disease mechanisms as well as the advancement of new methods for diagnosis and therapy are core issues of the network NIRK which follow an interdisciplinary approach and want to integrate various research activities and clinical care. The ultimate aim thus is to promote knowledge about the disease, identify new disease mechanisms and achieve optimal clinical care for the patients.
Projects- Erstellung eines standardisierten Fragebogens für das Zentralregister (Prof. H. Traupe, Münster)
- Erstellen einer multimedialen Datenbank (Prof. F. Ückert, Mainz)
- Multimedialer Wissenstransfer (Prof. F. Ückert, Mainz)
- Gen-Identifikation und -Charakterisierung bei autosomal rezessiven kongenitalen Ichthyosen (Dr. C. Hennies, Köln)
- Regulation und Bestimmung von Keratin-Genen (Dr. C. Hennies, Köln)
- Molekulargenetik und funktionelle Analyse bei Ichthyosen mit Sterolbiosynthesdefekten (Prof. K. Grzeschik, Marburg)
- Ultrastrukturelle Diagnostik (Dr. I. Haußer, Heidelberg)
- Biochemische Charakterisierung von erblichen Verhornungsstörungen (Prof. H. Traupe, Münster)
- Entwicklung einer Enzymsubstitution als Therapie bei TGM-1 Mangel (Prof. H. Traupe, Münster)
Prof. Dr. Heiko Traupe
Westfälische Wilhelms-Universität Münster
Klinik und Poliklinik für Hautkrankheiten
Von-Esmarch-Str. 56
48149 Münster
Tel.: 0251 83-57278
Fax: 0251 83-57279
E-Mail: traupeh@ukmuenster.de
Website: http://www.netzwerk-ichthyose.de/
-
18. September 2014 (NIRK)
Two novel mutations in the LOR gene in three families with loricrin keratodermaBr J Dermatol. 2014 Sep 18
Hotz A, Bourrat E, Hausser I, Haftek M, da Silva MV, Fischer J.
-
1. September 2014 (NIRK)
Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare diseaseJ Dtsch Dermatol Ges. 2014 Sep;12(9):781-8
Schiller S, Seebode C, Hennies HC, Giehl K, Emmert S.
-
31. July 2014 (NIRK)
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosisBr J Dermatol. 2014 Jul 31. doi: 10.1111/bjd.13308. [Epub ahead of print]
Rosenberger S, Dick A, Latzko S, Hausser I, Stark HJ, Rauh M, Schneider H, Krieg P
-
1. July 2014 (NIRK)
Penetration of normal, damaged and diseased skin–an in vitro study on dendritic core-multishell nanotransportersJ Control Release. 2014 Jul 10;185:45-50
Alnasif N, Zoschke C, Fleige E, Brodwolf R, Boreham A, Rühl E, Eckl KM, Merk HF, Hennies HC, Alexiev U, Haag R, Küchler S, Schäfer-Korting M.
-
8. May 2014 (NIRK)
White Sponge Nevus – A Rare Autosomal Dominant KeratinopathyKlin Padiatr. 2014 May 8. [Epub ahead of print] No abstract available
Benoit S, Schlipf N, Hausser I, Fischer J, Hamm H.
-
1. April 2014 (NIRK)
Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disordersExp Dermatol. 2014 Apr;23(4):286-8
Eckl KM, Weindl G, Ackermann K, Küchler S, Casper R, Radowski MR, Haag R, Hennies HC, Schäfer-Korting M.
-
1. February 2014 (NIRK)
Nonsyndromic types of ichthyoses – an update.J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. Traupe H, Fischer J, Oji V.
-
1. January 2014 (NIRK)
Annular atrophic plaques on the face in a father and a son: Christianson’s disease, a real entity?Acta Derm Venereol. 2014 Jan;94(1):100-1
Peitsch WK, Orouji A, Starink TM, Hausser I, Figl R, Goerdt S.
-
1. January 2014 (NIRK)
Oral liarozole in the treatment of patients with moderate/severe lamellar ichthyosis: results of a randomized, double-blind, multinational, placebo-controlled phase II/III trialBr J Dermatol. 2014 Jan;170(1):173-81
Vahlquist A, Blockhuys S, Steijlen P, van Rossem K, Didona B, Blanco D, Traupe H.
-
17. September 2013 (NIRK)
Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin GraftsAm J Hum Genet. 2013 Sep 17
Aufenvenne K, Larcher F, Hausser I, Duarte B, Oji V, Nikolenko H, Del Rio M, Dathe M, Traupe H. -
1. July 2013 (NIRK)
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.Exp Dermatol. 2013 Jul;22(7):486-9
Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.
-
1. June 2013 (NIRK)
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.Br J Dermatol. 2013 Jun;168(6):1372-4.
Nellen RG, Steijlen PM, Hennies HC, Fischer J, Munro CS, Jonkman MF, van Steensel MA, van Geel M.
-
6. May 2013 (NIRK)
Mutations in IL36RN in Patients with Generalized Pustular PsoriasisJ Invest Dermatol. 2013 May 6. doi: 10.1038/jid.2013.214. [Epub ahead of print] No abstract available.
Körber A, Mössner R, Renner R, Sticht H, Wilsmann-Theis D, Schulz P, Sticherling M, Traupe H, Hüffmeier U.
-
1. May 2013 (NIRK)
Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitisArthritis Rheum. 2013 May;65(5):1224-31. doi: 10.1002/art.37885.
Apel M, Uebe S, Bowes J, Giardina E, Korendowych E, Juneblad K, Pasutto F, Ekici AB, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Böhm B, Traupe H, Lohmann J, Gieger C, Wichmann HE, Padyukov L, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton A, Reis A, Hüffmeier U.
-
2. April 2013 (NIRK)
Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain LengthJ Invest Dermatol. 2013 Apr 2. doi: 10.1038/jid.2013.153. [Epub ahead of print] Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC
-
8. March 2013 (NIRK)
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH.
-
1. March 2013 (NIRK)
A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A.
Pediatr Dermatol. 2013 Mar-Apr;30(2):250-2.
-
30. January 2013 (NIRK)
First Symposium of Ichthyosis ExpertsActas Dermosifiliogr. 2013 Jan 30. doi:pii: S0001-7310(12)00577-7. 10.1016/j.ad.2012.11.018. [Epub ahead of print]
Hernández-Martín A, Torrelo-Fernández A, de Lucas-Laguna R, Casco F, González-Sarmiento R, Vega A, Pedreira-Massa JL, de Unamuno-Pérez P, Larcher F, Arroyo I, Traupe H.
-
7. January 2013 (NIRK)
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profileJ Eur Acad Dermatol Venereol. 2013 Jan 7. doi: 10.1111/jdv.12079. [Epub ahead of print]
Perusquía-Ortiz AM, Oji V, Sauerland MC, Tarinski T, Zaraeva I, Seller N, Metze D, Aufenvenne K, Hausser I, Traupe H.
-
3. January 2013 (NIRK)
Ichthyosis keeps surprising usActas Dermosifiliogr. 2013 May;104(4):267-9. doi: 10.1016/j.ad.2012.10.016. Epub 2013 Jan 3. English, Spanish. No abstract available.
Traupe H.
-
1. January 2013 (NIRK)
Induced pluripotent mesenchymal stromal cell clones retain donor-derived differences in DNA methylation profiles.Mol Ther. 2013 Jan;21(1):240-50
Shao K, Koch C, Gupta MK, Lin Q, Lenz M, Laufs S, Denecke B, Schmidt M, Linke M, Hennies HC, Hescheler J, Zenke M, Zechner U, Šarić T, Wagner W.
-
1. January 2013 (NIRK)
Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation.J Invest Dermatol. 2013 Jan;133(1):172-80
Krieg P, Rosenberger S, de Juanes S, Latzko S, Hou J, Dick A, Kloz U, van der Hoeven F, Hausser I, Esposito I, Rauh M, Schneider H.
-
1. January 2013 (NIRK)
The substrate degradome of meprin metalloproteases reveals an unexpected proteolytic link between meprin β and ADAM10.Cell Mol Life Sci. 2013 Jan;70(2):309-33.
Jefferson T, Auf dem Keller U, Bellac C, Metz VV, Broder C, Hedrich J, Ohler A, Maier W, Magdolen V, Sterchi E, Bond JS, Jayakumar A, Traupe H, Chalaris A, Rose-John S, Pietrzik CU, Postina R, Overall CM, Becker-Pauly C.
-
1. December 2012 (NIRK)
Topical immunotherapy with diphenylcyclopropenone of patients with alopecia areata – a large retrospective study on 142 patients with a self-controlled designJ Eur Acad Dermatol Venereol 2012 Apr
Ohlmeier MC, Traupe H, Luger TA, Böhm M
-
1. December 2012 (NIRK)
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasisHum Mol Genet 2012 Dec
Knight J, Spain SL, Capon F, Hayday A, Nestle FO, Clop A; Wellcome Trust Case Control Consortium; Genetic Analysis of Psoriasis Consortium; I-chip for Psoriasis Consortium, Barker JN, Weale ME, Trembath RC
-
1. November 2012 (NIRK)
Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalentsExp Dermatol. 2012
Jansen PA, van den Bogaard EH, Kersten FF, Oostendorp C, van Vlijmen-Willems IM, Oji V, Traupe H, Hennies HC, Schalkwijk J, Zeeuwen PL
-
1. October 2012 (NIRK)
Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital ClubbingJ Invest Dermatol. 2012 Oct
Busch J, Frank V, Bachmann N, Otsuka A, Oji V, Metze D, Shah K, Danda S, Watzer B, Traupe H, Bolz HJ, Kabashima K, Bergmann C
-
1. September 2012 (NIRK)
The substrate degradome of meprin metalloproteases reveals an unexpected proteolytic link between meprin β and ADAM10Cell Mol Life Sci. 2013 Jan;70(2):309-33. doi: 10.1007/s00018-012-1106-2. Epub 2012 Sep 1.
Jefferson T, Auf dem Keller U, Bellac C, Metz VV, Broder C, Hedrich J, Ohler A, Maier W, Magdolen V, Sterchi E, Bond JS, Jayakumar A, Traupe H, Chalaris A, Rose-John S, Pietrzik CU, Postina R, Overall CM, Becker-Pauly C.
-
1. July 2012 (NIRK)
Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model and insights from proteomic studiesAufenvenne K, Rice RH, Hausser I, Oji V, Hennies HC, Del Rio M, Traupe H, Larcher F,. J Invest Dermatol. 2012 Jul;132(7):1918-21.
-
1. February 2012 (NIRK)
Beta-Actin is a Target for Transglutaminase Activity at Synaptic Endings in Chicken Telencephalic Cell CulturesDolge L, Aufenvenne K, Traupe H, Baumgartner W:. J Mol Neurosci. 2012 Feb;46(2):410-9.
-
15. January 2012 (NIRK)
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Nat Genet. 2012 Jan 15;44(2):140-7
-
1. May 2011 (NIRK)
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A, Happle R, Grzeschik KH.
Exp Dermatol. 2011 May;20(5):447-9. -
1. March 2011 (NIRK)
rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients.Roedl D, Oji V, Buters JT, Behrendt H, Braun-Falco M. J Dermatol Sci. 2011 Mar;61(3):194-8.
-
1. February 2011 (NIRK)
Genodermatoses.Happle R, Traupe H: Hautarzt. 2011 Feb;62(2):80-1.
-
1. February 2011 (NIRK)
NSDHL-Related Disorders.du Souich C, Raymond FL, Grzeschik KH, König A, Boerkoel CF.
In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2011 Feb 01 -
1. January 2011 (NIRK)
Hereditäre Ichthyosen.Oji V. In: Braun-Falco’s Dermatologie, Venerologie und Allergologie, 6. Aufl., Plewig, Wolff, Burgdorf, Landthaler, Springer Heidelberg (2011, imDruck)
-
1. January 2011 (NIRK)
A family with dystrophic alopecia and keratosis pilaris.Scholz IM, Hausser I, Behnecke A, Helmbold P, J Dtsch Dermatol Ges 2011; 9:1055-6
-
1. January 2011 (NIRK)
Palmoplantar hyperkeratoses and hypopigmentation. Cole disease.Schmieder A, Hausser I, Schneider SW, Goerdt S, Peitsch WK. Acta Derm Venereol. 2011; 91:737-8
-
1. January 2011 (NIRK)
IGFBP7 as a novel therapeutic target in psoriasis.Nousbeck J, Ishida-Yamamoto A, Bidder M, Fuchs D, Eckl K, Hennies HC, Sagiv N, Gat A, Gini M, Filip I, Matz H, Goldberg I, Enk CD, Sarig O, Meilik B, Aberdam D, Gilhar A, Sprecher E J. Invest Dermatol 131:1767-1770 (2011)
-
1. January 2011 (NIRK)
Hallmarks of atopic skin mimicked in vitro by means of a skin disease model based on FLG knock-down.Küchler S, Henkes D, Eckl KM, Ackermann K, Plendl J, Korting HC, Hennies HC, Schäfer-Korting M, Altern. Lab Anim 39:471-480 (2011)
-
1. January 2011 (NIRK)
Ichthyosis prematurity syndrome caused by a novel fatty acid transport protein 4 gene mutation in a German patient.Inhoff O, Hausser I, Schneider SW, Khnykin D, Jahnsen F,L, Sartoris J, Goerdt S, Peitsch WK. Arch Dermatol 2011; 147:750-2
-
1. January 2011 (NIRK)
Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.Haverkaemper S, Marquardt T, Hausser I, Timme K, Kuehn T, Hertzberg C, Rossi R. Neonatology 2011; 100:194-7
-
1. January 2011 (NIRK)
A novel homozygous missense mutation in ARS (component B) encoding SLURP-1 causes Mal de Meleda with exceptional phenotype.Gruber R, Hennies HC, Romani N, Schmuth M, Arch Dermatol 147:748-750 (2011)
-
1. January 2011 (NIRK)
CEDNIK syndrome results from loss-of-function mutations in SNAP29.Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl KM, Hennies HC, Sarig O, Goldsher D, Meilik B, Horowitz M, Sprecher E Br J Dermatol 164:610-616 (2011)
-
1. January 2011 (NIRK)
Full-thickness human skin models for congenital ichthyosis and related keratinisation disordersEckl KM, Alef T, Torres S, Hennies HC,. J Invest Dermatol 131:1938-1342 (2011)
-
1. January 2011 (NIRK)
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov, Traupe H, Hennies HC, Kelsell DP. Am J Hum Genet 2011; 89:564-71
-
1. January 2011 (NIRK)
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosisArin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, Grimberg G. Br J Dermatol 2011; 164:442-7