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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. Among authors: rosenstiel p. 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
Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S. Valentonyte R, et al. Among authors: rosenstiel p. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
A short isoform of NOD2/CARD15, NOD2-S, is an endogenous inhibitor of NOD2/receptor-interacting protein kinase 2-induced signaling pathways.
Rosenstiel P, Huse K, Till A, Hampe J, Hellmig S, Sina C, Billmann S, von Kampen O, Waetzig GH, Platzer M, Seegert D, Schreiber S. Rosenstiel P, et al. Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3280-5. doi: 10.1073/pnas.0505423103. Epub 2006 Feb 21. Proc Natl Acad Sci U S A. 2006. PMID: 16492792 Free PMC article.
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Günther S, Prescott NJ, Onnie CM, Häsler R, Sipos B, Fölsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S. Hampe J, et al. Among authors: rosenstiel p. Nat Genet. 2007 Feb;39(2):207-11. doi: 10.1038/ng1954. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200669
NOD-like receptors and human diseases.
Rosenstiel P, Till A, Schreiber S. Rosenstiel P, et al. Microbes Infect. 2007 Apr;9(5):648-57. doi: 10.1016/j.micinf.2007.01.015. Epub 2007 Jan 27. Microbes Infect. 2007. PMID: 17376727 Free article. Review.
487 results