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The FSHD atrophic myotube phenotype is caused by DUX4 expression.
Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A. Vanderplanck C, et al. Among authors: belayew a. PLoS One. 2011;6(10):e26820. doi: 10.1371/journal.pone.0026820. Epub 2011 Oct 28. PLoS One. 2011. PMID: 22053214 Free PMC article.
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, Chen YW, Mercier J, Coppée F, Belayew A. Tassin A, et al. Among authors: belayew a. J Cell Mol Med. 2013 Jan;17(1):76-89. doi: 10.1111/j.1582-4934.2012.01647.x. Epub 2012 Dec 4. J Cell Mol Med. 2013. PMID: 23206257 Free PMC article.
Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences.
Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ. Ansseau E, et al. Among authors: belayew a. PLoS One. 2015 Mar 5;10(3):e0118813. doi: 10.1371/journal.pone.0118813. eCollection 2015. PLoS One. 2015. PMID: 25742305 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: belayew a. PLoS One. 2009 Oct 15;4(10):e7482. doi: 10.1371/journal.pone.0007482. PLoS One. 2009. PMID: 19829708 Free PMC article.
101 results