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SCGN deficiency results in colitis susceptibility.
Sifuentes-Dominguez LF, Li H, Llano E, Liu Z, Singla A, Patel AS, Kathania M, Khoury A, Norris N, Rios JJ, Starokadomskyy P, Park JY, Gopal P, Liu Q, Tan S, Chan L, Ross T, Harrison S, Venuprasad K, Baker LA, Jia D, Burstein E. Sifuentes-Dominguez LF, et al. Among authors: burstein e. Elife. 2019 Oct 30;8:e49910. doi: 10.7554/eLife.49910. Elife. 2019. PMID: 31663849 Free PMC article.
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, Burstein E. Starokadomskyy P, et al. Among authors: burstein e. J Clin Invest. 2013 May;123(5):2244-56. doi: 10.1172/JCI66466. Epub 2013 Apr 8. J Clin Invest. 2013. PMID: 23563313 Free PMC article.
Copper metabolism domain-containing 1 represses genes that promote inflammation and protects mice from colitis and colitis-associated cancer.
Li H, Chan L, Bartuzi P, Melton SD, Weber A, Ben-Shlomo S, Varol C, Raetz M, Mao X, Starokadomskyy P, van Sommeren S, Mokadem M, Schneider H, Weisberg R, Westra HJ, Esko T, Metspalu A, Kumar V, Faubion WA, Yarovinsky F, Hofker M, Wijmenga C, Kracht M, Franke L, Aguirre V, Weersma RK, Gluck N, van de Sluis B, Burstein E. Li H, et al. Among authors: burstein e. Gastroenterology. 2014 Jul;147(1):184-195.e3. doi: 10.1053/j.gastro.2014.04.007. Epub 2014 Apr 13. Gastroenterology. 2014. PMID: 24727021 Free PMC article.
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.
Phillips-Krawczak CA, Singla A, Starokadomskyy P, Deng Z, Osborne DG, Li H, Dick CJ, Gomez TS, Koenecke M, Zhang JS, Dai H, Sifuentes-Dominguez LF, Geng LN, Kaufmann SH, Hein MY, Wallis M, McGaughran J, Gecz J, Sluis Bv, Billadeau DD, Burstein E. Phillips-Krawczak CA, et al. Among authors: burstein e. Mol Biol Cell. 2015 Jan 1;26(1):91-103. doi: 10.1091/mbc.E14-06-1073. Epub 2014 Oct 29. Mol Biol Cell. 2015. PMID: 25355947 Free PMC article.
262 results