Hewitt JE, Lyle R, Clark LN, et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet. 1994; 3: 1287-95.
Lyle R, Wright TJ, Clark LN, et al. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics. 1995; 28: 389-97.
Wijmenga C, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet. 1992; 2: 26-30.
Tupler R, Berardinelli A, Barbierato L, et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet. 1996; 33: 366-70.
de Greef JC, Lemmers RJLF, Camaño P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010; 75: 1548-54.
de Greef JC, Lemmers RJLF, van Engelen BGM, et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009; 30: 1449-59.
van Overveld PGM, Lemmers RJFL, Sandkuijl LA, et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet. 2003; 35: 315-7.
Gabriëls J, Beckers MC, Ding H, et al. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene. 1999; 236: 25-32.
Dixit M, Ansseau E, Tassin A, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA. 2007; 104: 18157-62.
Lemmers RJLF, van der Vliet PJ, Klooster R, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010; 329: 1650-3.
Snider L, Geng LN, Lemmers RJLF, et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010; 6: e1001181.
Tsumagari K, Chang S-C, Lacey M, et al. Gene expression during normal and FSHD myogenesis. BMC Med Genomics. 2011; 4: 67.
Ansseau E, Laoudj-Chenivesse D, Marcowycz A, et al. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS ONE. 2009; 4: e7482.
Bosnakovski D, Lamb S, Simsek T, et al. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol. 2008; 214: 87-96.
Dmitriev P, Petrov A, Ansseau E, et al. The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. J Biol Chem. 2011; 286: 44620-31.
Dmitriev P, Lipinski M, Vassetzky YS. Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2009; 19: 17-20.
Kowaljow V, Marcowycz A, Ansseau E, et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord. 2007; 17: 611-23.
Bosnakovski D, Xu Z, Gang EJ, et al. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008; 27: 2766-79.
Vanderplanck C, Ansseau E, Charron S, et al. The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression. PLoS ONE. 2011; 6: e26820.
Richards M, Coppée F, Thomas N, et al. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet. 2012; 131: 325-40.
Geng LN, Yao Z, Snider L, et al. DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell. 2012; 22: 38-51.
Dixit M, Shi R, Sutherland M, et al. Characterization of a tet-repressible muscle-specific Pitx1 transgenic mouse model as an animal model of FSHD. FASEB Journal. 2007; 21: 870-8.
Wallace LM, Garwick SE, Mei W, et al. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011; 69: 540-52.
Barro M, Carnac G, Flavier S, et al. Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med. 2010; 14: 275-89.
Newlands S, Levitt LK, Robinson CS, et al. Transcription occurs in pulses in muscle fibers. Genes Dev. 1998; 12: 2748-58.
Ralston E, Hall ZW. Transfer of a protein encoded by a single nucleus to nearby nuclei in multinucleated myotubes. Science. 1989; 244: 1066-9.
Ono T, Ono K, Mizukawa K, et al. Limited diffusibility of gene products directed by a single nucleus in the cytoplasm of multinucleated myofibres. FEBS Lett. 1994; 337: 18-22.
Blaveri K, Heslop L, Yu DS, et al. Patterns of repair of dystrophic mouse muscle: studies on isolated fibers. Dev Dyn. 1999; 216: 244-56.
Laoudj-Chenivesse D, Marin P, Bennes R, et al. High performance two-dimensional gel electrophoresis using a wetting agent Tergitol NP7. Proteomics. 2002; 2: 481-5.
Yang J, Ontell MP, Kelly R, et al. Limitations of nls beta-galactosidase as a marker for studying myogenic lineage or the efficacy of myoblast transfer. Anat Rec. 1997; 248: 40-50.
Rechsteiner M, Rogers SW. PEST sequences and regulation by proteolysis. Trends Biochem Sci. 1996; 21: 267-71.
Coppée F, Mattéotti C, Ansseau E, et al. The DUX gene family and FSHD. In: Upadhyaya M, Cooper D, eds. Facioscapulohumeral muscular dystrophy: clinical medecine and molecular cell biology. Oxon: United Kingdom, 2004:117-34.
Jones TI, Chen JCJ, Rahimov F, et al. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet. 2012; 21: 4419-30.
Petrov A, Allinne J, Pirozhkova I, et al. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res. 2008; 18: 39-45.
Jiang G, Yang F, van Overveld PGM, et al. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet. 2003; 12: 2909-21.
Ottaviani A, Schluth-Bolard C, Gilson E, et al. D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells. Nucleus. 2010; 1: 30-6.
Cabianca DS, Casa V, Bodega B, et al. A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy. Cell. 2012; 149: 819-31.
Liu DX, Lobie PE. Transcriptional activation of p53 by Pitx1. Cell Death Differ. 2007; 14: 1893-907.
Ehrlich M, Lacey M. Deciphering transcription dysregulation in FSH muscular dystrophy. J Hum Genet. 2012; 57: 477-84.
Kawamura-Saito M, Yamazaki Y, Kaneko K, et al. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet. 2006; 15: 2125-37.
Rape M, Jentsch S. Productive RUPture: activation of transcription factors by proteasomal processing. Biochim Biophys Acta. 2004; 1695: 209-13.
Misteli T. Beyond the sequence: cellular organization of genome function. Cell. 2007; 128: 787-800.
Shen T, Liu Y, Contreras M, et al. DNA binding sites target nuclear NFATc1 to heterochromatin regions in adult skeletal muscle fibers. Histochem Cell Biol. 2010; 134: 387-402.
Vignos PJ Jr, Archibald KC. Maintenance of ambulation in childhood muscular dystrophy. J Chronic Dis. 1960; 12: 273-90.
Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981; 4: 186-97.