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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: schreiber s. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
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: schreiber s. Nat Genet. 2007 Feb;39(2):207-11. doi: 10.1038/ng1954. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200669
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. Among authors: schreiber s. 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.
2,765 results