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115 results

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Page 1
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar JP, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen JV, Milgrom R, Proctor D, Regueiro M, Schumm PL, Sharma Y, Stempak JM, Targan SR, Wang MH. Rivas MA, et al. Among authors: achkar jp. Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342. Nat Commun. 2016. PMID: 27503255 Free PMC article.
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nuñez G, Cho JH. Ogura Y, et al. Among authors: achkar jp. Nature. 2001 May 31;411(6837):603-6. doi: 10.1038/35079114. Nature. 2001. PMID: 11385577 Free article.
MDR1 Ala893 polymorphism is associated with inflammatory bowel disease.
Brant SR, Panhuysen CI, Nicolae D, Reddy DM, Bonen DK, Karaliukas R, Zhang L, Swanson E, Datta LW, Moran T, Ravenhill G, Duerr RH, Achkar JP, Karban AS, Cho JH. Brant SR, et al. Among authors: achkar jp. Am J Hum Genet. 2003 Dec;73(6):1282-92. doi: 10.1086/379927. Epub 2003 Nov 7. Am J Hum Genet. 2003. PMID: 14610718 Free PMC article.
Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.
Karban AS, Okazaki T, Panhuysen CI, Gallegos T, Potter JJ, Bailey-Wilson JE, Silverberg MS, Duerr RH, Cho JH, Gregersen PK, Wu Y, Achkar JP, Dassopoulos T, Mezey E, Bayless TM, Nouvet FJ, Brant SR. Karban AS, et al. Among authors: achkar jp. Hum Mol Genet. 2004 Jan 1;13(1):35-45. doi: 10.1093/hmg/ddh008. Epub 2003 Nov 12. Hum Mol Genet. 2004. PMID: 14613970
A genome scan in 260 inflammatory bowel disease-affected relative pairs.
Barmada MM, Brant SR, Nicolae DL, Achkar JP, Panhuysen CI, Bayless TM, Cho JH, Duerr RH. Barmada MM, et al. Among authors: achkar jp. Inflamm Bowel Dis. 2004 Jan;10(1):15-22. doi: 10.1097/00054725-200401000-00002. Inflamm Bowel Dis. 2004. PMID: 15058521
A genome scan in 260 inflammatory bowel disease-affected relative pairs.
Barmada MM, Brant SR, Nicolae DL, Achkar JP, Panhuysen CI, Bayless TM, Cho JH, Duerr RH. Barmada MM, et al. Among authors: achkar jp. Inflamm Bowel Dis. 2004 Sep;10(5):513-20. doi: 10.1097/00054725-200409000-00004. Inflamm Bowel Dis. 2004. PMID: 15472510
Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus.
Achkar JP, Dassopoulos T, Silverberg MS, Tuvlin JA, Duerr RH, Brant SR, Siminovitch K, Reddy D, Datta LW, Bayless TM, Zhang L, Barmada MM, Rioux JD, Steinhart AH, McLeod RS, Griffiths AM, Cohen Z, Yang H, Bromfield GP, Schumm P, Hanauer SB, Cho JH, Nicolae DL. Achkar JP, et al. Am J Gastroenterol. 2006 Mar;101(3):572-80. doi: 10.1111/j.1572-0241.2006.00451.x. Am J Gastroenterol. 2006. PMID: 16542294
115 results