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Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement.
Jung ES, Ellinghaus D, Degenhardt F, Meguro A, Khor SS, Mucha S, Wendorff M, Juzenas S, Mizuki N, Tokunaga K, Kim SW, Lee MG, Schreiber S, Kim WH, Franke A, Cheon JH. Jung ES, et al. Among authors: mucha s. Dig Liver Dis. 2024 Jun;56(6):994-1001. doi: 10.1016/j.dld.2023.10.021. Epub 2023 Nov 17. Dig Liver Dis. 2024. PMID: 37977914
Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression.
Mucha S, Baurecht H, Novak N, Rodríguez E, Bej S, Mayr G, Emmert H, Stölzl D, Gerdes S, Jung ES, Degenhardt F, Hübenthal M, Ellinghaus E, Kässens JC, Wienbrandt L, Lieb W, Müller-Nurasyid M, Hotze M, Dand N, Grosche S, Marenholz I, Arnold A, Homuth G, Schmidt CO, Wehkamp U, Nöthen MM, Hoffmann P, Paternoster L, Standl M; Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium; Bønnelykke K, Ahluwalia TS, Bisgaard H, Peters A, Gieger C, Waldenberger M, Schulz H, Strauch K, Werfel T, Lee YA, Wolfien M, Rosenstiel P, Wolkenhauer O, Schreiber S, Franke A, Weidinger S, Ellinghaus D. Mucha S, et al. J Allergy Clin Immunol. 2020 Apr;145(4):1208-1218. doi: 10.1016/j.jaci.2019.10.030. Epub 2019 Nov 9. J Allergy Clin Immunol. 2020. PMID: 31707051
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC, Alberts R, Mucha S, Deelen P, de Jong DJ, Pierik M, Spekhorst LM, Imhann F, van der Meulen-de Jong AE, van der Woude CJ, van Bodegraven AA, Oldenburg B, Löwenberg M, Dijkstra G, Ellinghaus D, Schreiber S, Wijmenga C; Initiative on Crohn and Colitis; Parelsnoer Institute; Rivas MA, Franke A, van Diemen CC, Weersma RK. Visschedijk MC, et al. Among authors: mucha s. PLoS One. 2016 Aug 4;11(8):e0159609. doi: 10.1371/journal.pone.0159609. eCollection 2016. PLoS One. 2016. PMID: 27490946 Free PMC article.
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, Shah T, Gutierrez-Achury J, Boberg KM, Bergquist A, Vermeire S, Eksteen B, Durie PR, Farkkila M, Müller T, Schramm C, Sterneck M, Weismüller TJ, Gotthardt DN, Ellinghaus D, Braun F, Teufel A, Laudes M, Lieb W, Jacobs G, Beuers U, Weersma RK, Wijmenga C, Marschall HU, Milkiewicz P, Pares A, Kontula K, Chazouillères O, Invernizzi P, Goode E, Spiess K, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, Floreani A, Gulamhusein AF, Eaton JE, Schreiber S, Coltescu C, Bowlus CL, Luketic VA, Odin JA, Chopra KB, Kowdley KV, Chalasani N, Manns MP, Srivastava B, Mells G, Sandford RN, Alexander G, Gaffney DJ, Chapman RW, Hirschfield GM, de Andrade M; UK-PSC Consortium; International IBD Genetics Consortium; International PSC Study Group; Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN, Anderson CA. Ji SG, et al. Among authors: mucha s. Nat Genet. 2017 Feb;49(2):269-273. doi: 10.1038/ng.3745. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992413 Free PMC article.
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
Shadrin AA, Mucha S, Ellinghaus D, Makarious MB, Blauwendraat C, Sreelatha AAK, Heras-Garvin A, Ding J, Hammer M, Foubert-Samier A, Meissner WG, Rascol O, Pavy-Le Traon A, Frei O, O'Connell KS, Bahrami S, Schreiber S, Lieb W, Müller-Nurasyid M, Schminke U, Homuth G, Schmidt CO, Nöthen MM, Hoffmann P, Gieger C, Wenning G; European Multiple System Atrophy Study Group; Gibbs JR, Franke A, Hardy J, Stefanova N, Gasser T, Singleton A, Houlden H, Scholz SW, Andreassen OA, Sharma M. Shadrin AA, et al. Among authors: mucha s. Mov Disord. 2021 Feb;36(2):449-459. doi: 10.1002/mds.28338. Epub 2020 Oct 27. Mov Disord. 2021. PMID: 33107653 Free PMC article.
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. Dand N, et al. Among authors: mucha s. Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi: 10.1093/hmg/ddx328. Hum Mol Genet. 2017. PMID: 28973304 Free PMC article.
Psoriasis and cardiometabolic traits: modest association but distinct genetic architectures.
Koch M, Baurecht H, Ried JS, Rodriguez E, Schlesinger S, Volks N, Gieger C, Rückert IM, Heinrich L, Willenborg C, Smith C, Peters A, Thorand B, Koenig W, Lamina C, Jansen H, Kronenberg F, Seissler J, Thiery J, Rathmann W, Schunkert H, Erdmann J, Barker J, Nair RP, Tsoi LC, Elder JT, Mrowietz U, Weichenthal M, Mucha S, Schreiber S, Franke A, Schmitt J, Lieb W, Weidinger S. Koch M, et al. Among authors: mucha s. J Invest Dermatol. 2015 May;135(5):1283-1293. doi: 10.1038/jid.2015.8. Epub 2015 Jan 19. J Invest Dermatol. 2015. PMID: 25599394 Free PMC article.
Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.
Yin X, Low HQ, Wang L, Li Y, Ellinghaus E, Han J, Estivill X, Sun L, Zuo X, Shen C, Zhu C, Zhang A, Sanchez F, Padyukov L, Catanese JJ, Krueger GG, Duffin KC, Mucha S, Weichenthal M, Weidinger S, Lieb W, Foo JN, Li Y, Sim K, Liany H, Irwan I, Teo Y, Theng CT, Gupta R, Bowcock A, De Jager PL, Qureshi AA, de Bakker PI, Seielstad M, Liao W, Ståhle M, Franke A, Zhang X, Liu J. Yin X, et al. Among authors: mucha s. Nat Commun. 2015 Apr 23;6:6916. doi: 10.1038/ncomms7916. Nat Commun. 2015. PMID: 25903422 Free PMC article.
157 results