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Page 1
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Luo Y, de Lange KM, Jostins L, Moutsianas L, Randall J, Kennedy NA, Lamb CA, McCarthy S, Ahmad T, Edwards C, Serra EG, Hart A, Hawkey C, Mansfield JC, Mowat C, Newman WG, Nichols S, Pollard M, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson DC, Lee JC, Prescott NJ, Lees CW, Mathew CG, Parkes M, Barrett JC, Anderson CA. Luo Y, et al. Among authors: uhlig h. Nat Genet. 2017 Feb;49(2):186-192. doi: 10.1038/ng.3761. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067910 Free PMC 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: uhlig h. Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342. Nat Commun. 2016. PMID: 27503255 Free PMC article.
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Schwerd T, Bryant RV, Pandey S, Capitani M, Meran L, Cazier JB, Jung J, Mondal K, Parkes M, Mathew CG, Fiedler K, McCarthy DJ; WGS500 Consortium; Oxford IBD cohort study investigators; COLORS in IBD group investigators; UK IBD Genetics Consortium; Sullivan PB, Rodrigues A, Travis SPL, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J; INTERVAL Study; Russell RK, Wilson DC, Kelsen JR, Cornall R, Denson LA, Kugathasan S, Knaus UG, Serra EG, Anderson CA, Duerr RH, McGovern DP, Cho J, Powrie F, Li VS, Muise AM, Uhlig HH. Schwerd T, et al. Among authors: uhlig hh. Mucosal Immunol. 2018 Mar;11(2):562-574. doi: 10.1038/mi.2017.74. Epub 2017 Nov 1. Mucosal Immunol. 2018. PMID: 29091079 Free PMC article.
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y, Kennedy NA, Jostins L, Rice DL, Gutierrez-Achury J, Ji SG, Heap G, Nimmo ER, Edwards C, Henderson P, Mowat C, Sanderson J, Satsangi J, Simmons A, Wilson DC, Tremelling M, Hart A, Mathew CG, Newman WG, Parkes M, Lees CW, Uhlig H, Hawkey C, Prescott NJ, Ahmad T, Mansfield JC, Anderson CA, Barrett JC. de Lange KM, et al. Among authors: uhlig h. Nat Genet. 2017 Feb;49(2):256-261. doi: 10.1038/ng.3760. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067908 Free PMC article.
Oncostatin M drives intestinal inflammation and predicts response to tumor necrosis factor-neutralizing therapy in patients with inflammatory bowel disease.
West NR, Hegazy AN, Owens BMJ, Bullers SJ, Linggi B, Buonocore S, Coccia M, Görtz D, This S, Stockenhuber K, Pott J, Friedrich M, Ryzhakov G, Baribaud F, Brodmerkel C, Cieluch C, Rahman N, Müller-Newen G, Owens RJ, Kühl AA, Maloy KJ, Plevy SE; Oxford IBD Cohort Investigators; Keshav S, Travis SPL, Powrie F. West NR, et al. Nat Med. 2017 May;23(5):579-589. doi: 10.1038/nm.4307. Epub 2017 Apr 3. Nat Med. 2017. PMID: 28368383 Free PMC article.
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM. Crowley E, et al. Among authors: uhlig h. Gastroenterology. 2020 Jun;158(8):2208-2220. doi: 10.1053/j.gastro.2020.02.023. Epub 2020 Feb 19. Gastroenterology. 2020. PMID: 32084423 Free PMC article.
Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies.
Ouahed J, Spencer E, Kotlarz D, Shouval DS, Kowalik M, Peng K, Field M, Grushkin-Lerner L, Pai SY, Bousvaros A, Cho J, Argmann C, Schadt E, Mcgovern DPB, Mokry M, Nieuwenhuis E, Clevers H, Powrie F, Uhlig H, Klein C, Muise A, Dubinsky M, Snapper SB. Ouahed J, et al. Among authors: uhlig h. Inflamm Bowel Dis. 2020 May 12;26(6):820-842. doi: 10.1093/ibd/izz259. Inflamm Bowel Dis. 2020. PMID: 31833544 Free PMC article. Review.
Author Correction: A dynamic CD2-rich compartment at the outer edge of the immunological synapse boosts and integrates signals.
Demetriou P, Abu-Shah E, Valvo S, McCuaig S, Mayya V, Kvalvaag A, Starkey T, Korobchevskaya K, Lee LYW, Friedrich M, Mann E, Kutuzov MA, Morotti M, Wietek N, Rada H, Yusuf S, Afrose J, Siokis A; Oxford IBD Cohort Investigators; Meyer-Hermann M, Ahmed AA, Depoil D, Dustin ML. Demetriou P, et al. Nat Immunol. 2021 Jan;22(1):99. doi: 10.1038/s41590-020-00825-w. Nat Immunol. 2021. PMID: 33122852 No abstract available.
A dynamic CD2-rich compartment at the outer edge of the immunological synapse boosts and integrates signals.
Demetriou P, Abu-Shah E, Valvo S, McCuaig S, Mayya V, Kvalvaag A, Starkey T, Korobchevskaya K, Lee LYW, Friedrich M, Mann E, Kutuzov MA, Morotti M, Wietek N, Rada H, Yusuf S, Afrose J, Siokis A; Oxford IBD Cohort Investigators; Meyer-Hermann M, Ahmed AA, Depoil D, Dustin ML. Demetriou P, et al. Nat Immunol. 2020 Oct;21(10):1232-1243. doi: 10.1038/s41590-020-0770-x. Epub 2020 Sep 14. Nat Immunol. 2020. PMID: 32929275 Free PMC article.
269 results