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Page 1
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.
Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, Stade B, Bromberg Y, Ellinghaus E, Keller A, Rivas MA, Skieceviciene J, Doncheva NT, Liu X, Liu Q, Jiang F, Forster M, Mayr G, Albrecht M, Häsler R, Boehm BO, Goodall J, Berzuini CR, Lee J, Andersen V, Vogel U, Kupcinskas L, Kayser M, Krawczak M, Nikolaus S, Weersma RK, Ponsioen CY, Sans M, Wijmenga C, Strachan DP, McArdle WL, Vermeire S, Rutgeerts P, Sanderson JD, Mathew CG, Vatn MH, Wang J, Nöthen MM, Duerr RH, Büning C, Brand S, Glas J, Winkelmann J, Illig T, Latiano A, Annese V, Halfvarson J, D'Amato M, Daly MJ, Nothnagel M, Karlsen TH, Subramani S, Rosenstiel P, Schreiber S, Parkes M, Franke A. Ellinghaus D, et al. Among authors: franke a. Gastroenterology. 2013 Aug;145(2):339-47. doi: 10.1053/j.gastro.2013.04.040. Epub 2013 Apr 25. Gastroenterology. 2013. PMID: 23624108 Free PMC article.
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: franke a. 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: franke a. Nat Genet. 2007 Feb;39(2):207-11. doi: 10.1038/ng1954. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200669
Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.
Schafmayer C, Buch S, Egberts JH, Franke A, Brosch M, El Sharawy A, Conring M, Koschnick M, Schwiedernoch S, Katalinic A, Kremer B, Fölsch UR, Krawczak M, Fändrich F, Schreiber S, Tepel J, Hampe J. Schafmayer C, et al. Among authors: franke a. Int J Cancer. 2007 Aug 1;121(3):555-8. doi: 10.1002/ijc.22735. Int J Cancer. 2007. PMID: 17417778
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S, Schafmayer C, Völzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bässmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Höll C, Seeger M, ElSharawy A, Lu T, Egberts J, Fändrich F, Fölsch UR, Krawczak M, Schreiber S, Nürnberg P, Tepel J, Hampe J. Buch S, et al. Among authors: franke a. Nat Genet. 2007 Aug;39(8):995-9. doi: 10.1038/ng2101. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632509
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
Franke A, Hampe J, Rosenstiel P, Becker C, Wagner F, Häsler R, Little RD, Huse K, Ruether A, Balschun T, Wittig M, Elsharawy A, Mayr G, Albrecht M, Prescott NJ, Onnie CM, Fournier H, Keith T, Radelof U, Platzer M, Mathew CG, Stoll M, Krawczak M, Nürnberg P, Schreiber S. Franke A, et al. PLoS One. 2007 Aug 8;2(8):e691. doi: 10.1371/journal.pone.0000691. PLoS One. 2007. PMID: 17684544 Free PMC article.
Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease.
Schafmayer C, Völzke H, Buch S, Egberts J, Spille A, von Eberstein H, Franke A, Seeger M, Hinz S, Elsharawy A, Rosskopf D, Brosch M, Krawczak M, Foelsch UR, Schafmayer A, Lammert F, Schreiber S, Faendrich F, Hampe J, Tepel J. Schafmayer C, et al. Among authors: franke a. Liver Int. 2007 Sep;27(7):910-9. doi: 10.1111/j.1478-3231.2007.01536.x. Liver Int. 2007. PMID: 17696929
1,748 results