Genetic and epigenetic contributors to FSHD

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vivo, Ann Neurol, 69, 540, 10.1002/ana.22275 Mitsuhashi, 2013, Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy, Hum Mol Genet, 22, 568, 10.1093/hmg/dds467 Geng, 2012, DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy, Dev Cell, 22, 38, 10.1016/j.devcel.2011.11.013 Young, 2013, DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis, PLoS Genet, 9, e1003947, 10.1371/journal.pgen.1003947 Sharma, 2013, DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells, PLoS ONE, 8, e64691, 10.1371/journal.pone.0064691 Feng, 2015, A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy, Elife, 4 Ferreboeuf, 2014, DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles, Hum Mol Genet, 23, 171, 10.1093/hmg/ddt409 Tassin, 2013, DUX4 expression in 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