Ausgewählte Publikationen 2012
Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J; Collaborative Association Study of Psoriasis (CASP), Duffin KC, Helms C, Goldgar D, Li Y, Paschall J, Malloy MJ, Pullinger CR, Kane JP, Gardner J, Perlmutter A, Miner A, Feng BJ, Hiremagalore R, Ike RW, Christophers E, Henseler T, Ruether A, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok P, Menter A, Lathrop GM, Wise C, Begovich AB; Genetic Analysis of Psoriasis Consortium, Onoufriadis A, Weale ME, Hofer A, Salmhofer W, Wolf P, Kainu K, Saarialho-Kere U, Suomela S, Badorf P, Hüffmeier U, Kurrat W, Küster W, Lascorz J, Mössner R, Schürmeier-Horst F, Ständer M, Traupe H, Bergboer JG, Heijer Md, van de Kerkhof PC, Zeeuwen PL, Barnes L, Campbell LE, Cusack C, Coleman C, Conroy J, Ennis S, Fitzgerald O, Gallagher P, Irvine AD, Kirby B, Markham T, McLean WH, McPartlin J, Rogers SF, Ryan AW, Zawirska A, Giardina E, Lepre T, Perricone C, Martín-Ezquerra G, Pujol RM, Riveira-Munoz E, Inerot A, Naluai AT, Mallbris L, Wolk K, Leman J, Barton A, Warren RB, Young HS, Ricano-Ponce I, Trynka G; Psoriasis Association Genetics Extension, Pellett FJ, Henschel A, Aurand M, Bebo B, Gieger C, Illig T, Moebus S, Jöckel KH, Erbel R; Wellcome Trust Case Control Consortium 2, Donnelly P, Peltonen L, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, Duncanson A, Jankowski J, Markus HS, Mathew CG, McCarthy MI, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Samani N, Viswanathan AC, Wood NW, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Su Z, Hunt SE, Gwilliam R, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Perez ML, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT, Trembath RC. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet. 2012, 44(12):1341-8. doi: 10.1038/ng.2467.
Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Symptomatic lipid storage in carriers for the PNPLA2 gene. Eur J Hum Genet. 2012 Dec 12. doi: 10.1038/ejhg.2012.256. [Epub ahead of print]
Heylen E, Scherer E, Vincent M, Marie S, Fischer J, and Nassogne M. Tyrosinemia Type III detected via neonatal screening: management and outcome. Mol. Genet. Metab 2012 107:605-607 .
Li H, Loriè EP, Fischer J, Vahlquist A, Törmä H. The Expression of Epidermal Lipoxygenases and Transglutaminase-1 Is Perturbed by NIPAL4 Mutations: Indications of a Common Metabolic Pathway Essential for Skin Barrier Homeostasis.J Invest Dermatol 2012 May 24. doi: 10.1038/jid.2012.160. [Epub ahead of print]
Bourrat E, Blanchet-Bardon C, Derbois C, Cure S, Fischer J. Specific transglutaminase 1 mutation profiles in bathing suit ichthyosis and self-improving collodion ichthyosis. Phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. Arch Dermatol 2012 Jul 16:1-5. doi: 10.1001/archdermatol.2012.1947. [Epub ahead of print].
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim G-J, Lagoutte L, Degorce-Rubiales F, Radner FPW, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C and Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44:140-147.