A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associ...

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Main Authors: 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, 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
Format: Journal article
Language:English
Published: Springer Nature 2016

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