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DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.
Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW. Dixit M, et al. Among authors: figlewicz d. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62. doi: 10.1073/pnas.0708659104. Epub 2007 Nov 5. Proc Natl Acad Sci U S A. 2007. PMID: 17984056 Free PMC article.
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH. Chow CY, et al. Among authors: figlewicz d. Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010. Am J Hum Genet. 2009. PMID: 19118816 Free PMC article.
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.
Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, Sauvage S, Barro M, Mahieu I, Leroy A, Leclercq I, Mainfroid V, Figlewicz D, Mouly V, Butler-Browne G, Belayew A, Coppée F. Ansseau E, et al. Among authors: figlewicz d. PLoS One. 2009 Oct 15;4(10):e7482. doi: 10.1371/journal.pone.0007482. PLoS One. 2009. PMID: 19829708 Free PMC article.
200 results