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Page 1
Lrrk2 alleles modulate inflammation during microbial infection of mice in a sex-dependent manner.
Shutinoski B, Hakimi M, Harmsen IE, Lunn M, Rocha J, Lengacher N, Zhou YY, Khan J, Nguyen A, Hake-Volling Q, El-Kodsi D, Li J, Alikashani A, Beauchamp C, Majithia J, Coombs K, Shimshek D, Marcogliese PC, Park DS, Rioux JD, Philpott DJ, Woulfe JM, Hayley S, Sad S, Tomlinson JJ, Brown EG, Schlossmacher MG. Shutinoski B, et al. Among authors: rioux jd. Sci Transl Med. 2019 Sep 25;11(511):eaas9292. doi: 10.1126/scitranslmed.aas9292. Sci Transl Med. 2019. PMID: 31554740
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: rioux jd. 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.
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion.
Cuillerier A, Honarmand S, Cadete VJJ, Ruiz M, Forest A, Deschênes S, Beauchamp C; LSFC Consortium; Charron G, Rioux JD, Des Rosiers C, Shoubridge EA, Burelle Y. Cuillerier A, et al. Among authors: rioux jd. Hum Mol Genet. 2017 Aug 15;26(16):3186-3201. doi: 10.1093/hmg/ddx202. Hum Mol Genet. 2017. PMID: 28575497 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: rioux jd. Circ Cardiovasc Genet. 2017 Oct;10(5):e001755. doi: 10.1161/CIRCGENETICS.117.001755. Circ Cardiovasc Genet. 2017. PMID: 29021306
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I. Hui KY, et al. Among authors: rioux jd. Sci Transl Med. 2018 Jan 10;10(423):eaai7795. doi: 10.1126/scitranslmed.aai7795. Sci Transl Med. 2018. PMID: 29321258 Free PMC article.
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: rioux jd. Genome Med. 2021 Nov 11;13(1):181. doi: 10.1186/s13073-021-00996-7. Genome Med. 2021. PMID: 34758847 Free PMC article.
264 results