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TM6SF2 rs58542926 impacts lipid processing in liver and small intestine.
O'Hare EA, Yang R, Yerges-Armstrong LM, Sreenivasan U, McFarland R, Leitch CC, Wilson MH, Narina S, Gorden A, Ryan KA, Shuldiner AR, Farber SA, Wood GC, Still CD, Gerhard GS, Robishaw JD, Sztalryd C, Zaghloul NA. O'Hare EA, et al. Among authors: leitch cc. Hepatology. 2017 May;65(5):1526-1542. doi: 10.1002/hep.29021. Epub 2017 Mar 22. Hepatology. 2017. PMID: 28027591 Free PMC article.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N. Zaghloul NA, et al. Among authors: leitch cc. Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24. Proc Natl Acad Sci U S A. 2010. PMID: 20498079 Free PMC article.
RFX transcription factors are essential for hearing in mice.
Elkon R, Milon B, Morrison L, Shah M, Vijayakumar S, Racherla M, Leitch CC, Silipino L, Hadi S, Weiss-Gayet M, Barras E, Schmid CD, Ait-Lounis A, Barnes A, Song Y, Eisenman DJ, Eliyahu E, Frolenkov GI, Strome SE, Durand B, Zaghloul NA, Jones SM, Reith W, Hertzano R. Elkon R, et al. Among authors: leitch cc. Nat Commun. 2015 Oct 15;6:8549. doi: 10.1038/ncomms9549. Nat Commun. 2015. PMID: 26469318 Free PMC article.
32 results