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Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.
Gut. 2023 Nov;72(11):2068-2080. doi: 10.1136/gutjnl-2023-329689. Epub 2023 Apr 20.
Gut. 2023.
PMID: 37080587
Free article.
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: limbergen jv.
Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342.
Nat Commun. 2016.
PMID: 27503255
Free PMC article.
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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Momozawa Y, Dmitrieva J, Théâtre E, Deffontaine V, Rahmouni S, Charloteaux B, Crins F, Docampo E, Elansary M, Gori AS, Lecut C, Mariman R, Mni M, Oury C, Altukhov I, Alexeev D, Aulchenko Y, Amininejad L, Bouma G, Hoentjen F, Löwenberg M, Oldenburg B, Pierik MJ, Vander Meulen-de Jong AE, Janneke van der Woude C, Visschedijk MC; International IBD Genetics Consortium; Lathrop M, Hugot JP, Weersma RK, De Vos M, Franchimont D, Vermeire S, Kubo M, Louis E, Georges M.
Momozawa Y, et al.
Nat Commun. 2018 Jun 21;9(1):2427. doi: 10.1038/s41467-018-04365-8.
Nat Commun. 2018.
PMID: 29930244
Free PMC article.
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Erratum: 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.
Rivas MA, et al.
Nat Commun. 2016 Sep 13;7:12869. doi: 10.1038/ncomms12869.
Nat Commun. 2016.
PMID: 27619887
Free PMC article.
No abstract available.
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