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Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
McGovern DP, Gardet A, Törkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RT, Lagacé C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lördal M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O, Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC, Weersma RK; NIDDK IBD Genetics Consortium; Sharma Y, Silverberg MS, Cho JH, Wu J, Roeder K, Brant SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer NL, Haritunians T, Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR, Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ, Rioux JD, Seielstad M. McGovern DP, et al. Among authors: beauchamp c. Nat Genet. 2010 Apr;42(4):332-7. doi: 10.1038/ng.549. Epub 2010 Mar 14. Nat Genet. 2010. PMID: 20228799 Free PMC article.
A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.
Festen EA, Goyette P, Green T, Boucher G, Beauchamp C, Trynka G, Dubois PC, Lagacé C, Stokkers PC, Hommes DW, Barisani D, Palmieri O, Annese V, van Heel DA, Weersma RK, Daly MJ, Wijmenga C, Rioux JD. Festen EA, et al. Among authors: beauchamp c. PLoS Genet. 2011 Jan 27;7(1):e1001283. doi: 10.1371/journal.pgen.1001283. PLoS Genet. 2011. PMID: 21298027 Free PMC article.
Epigenetic reader SP140 loss of function drives Crohn's disease due to uncontrolled macrophage topoisomerases.
Amatullah H, Fraschilla I, Digumarthi S, Huang J, Adiliaghdam F, Bonilla G, Wong LP, Rivard ME, Beauchamp C, Mercier V, Goyette P, Sadreyev RI, Anthony RM, Rioux JD, Jeffrey KL. Amatullah H, et al. Among authors: beauchamp c. Cell. 2022 Aug 18;185(17):3232-3247.e18. doi: 10.1016/j.cell.2022.06.048. Epub 2022 Aug 10. Cell. 2022. PMID: 35952671 Free PMC article.
IL23R (Interleukin 23 Receptor) Variants Protective against Inflammatory Bowel Diseases (IBD) Display Loss of Function due to Impaired Protein Stability and Intracellular Trafficking.
Sivanesan D, Beauchamp C, Quinou C, Lee J, Lesage S, Chemtob S, Rioux JD, Michnick SW. Sivanesan D, et al. Among authors: beauchamp c. J Biol Chem. 2016 Apr 15;291(16):8673-85. doi: 10.1074/jbc.M116.715870. Epub 2016 Feb 17. J Biol Chem. 2016. PMID: 26887945 Free PMC article.
Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a KCNJ2 Mutation.
Gélinas R, El Khoury N, Chaix MA, Beauchamp C, Alikashani A, Ethier N, Boucher G, Villeneuve L, Robb L, Latour F, Mondesert B, Rivard L, Goyette P, Talajic M, Fiset C, Rioux JD. Gélinas R, et al. Among authors: beauchamp c. Circ Cardiovasc Genet. 2017 Oct;10(5):e001755. doi: 10.1161/CIRCGENETICS.117.001755. Circ Cardiovasc Genet. 2017. PMID: 29021306
Functional screen of inflammatory bowel disease genes reveals key epithelial functions.
Ntunzwenimana JC, Boucher G, Paquette J, Gosselin H, Alikashani A, Morin N, Beauchamp C, Thauvette L, Rivard MÈ, Dupuis F, Deschênes S, Foisy S, Latour F, Lavallée G, Daly MJ, Xavier RJ; iGenoMed Consortium; Charron G, Goyette P, Rioux JD. Ntunzwenimana JC, et al. Among authors: beauchamp c. Genome Med. 2021 Nov 11;13(1):181. doi: 10.1186/s13073-021-00996-7. Genome Med. 2021. PMID: 34758847 Free PMC article.
197 results