Published in J Med Genet on November 01, 2004
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J (2008) 2.74
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell (2012) 2.29
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol (2010) 1.89
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res (2008) 1.45
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Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol (2010) 1.34
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Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci U S A (2006) 1.32
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. Eur J Hum Genet (2009) 1.20
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DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS One (2009) 1.12
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Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy. Nat Struct Mol Biol (2013) 1.07
A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. PLoS One (2008) 1.01
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol (2012) 1.00
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) 0.91
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors. Orphanet J Rare Dis (2013) 0.91
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Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease. Antioxid Redox Signal (2014) 0.86
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Alternative splicing and muscular dystrophy. RNA Biol (2010) 0.83
Direct interplay between two candidate genes in FSHD muscular dystrophy. Hum Mol Genet (2014) 0.80
A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles. Stem Cells Transl Med (2016) 0.79
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Acacetin and chrysin, two polyphenolic compounds, alleviate telomeric position effect in human cells. Mol Ther Nucleic Acids (2013) 0.78
DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy. Skelet Muscle (2014) 0.78
FSHD myotubes with different phenotypes exhibit distinct proteomes. PLoS One (2012) 0.78
Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD). PLoS One (2016) 0.77
ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy. Nucleic Acids Res (2015) 0.76
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes. Case Rep Genet (2013) 0.75
Polycomb Repressive Complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy. Hum Mol Genet (2016) 0.75
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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell (2002) 3.56
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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) 2.15
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet (1990) 2.09
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The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res (1994) 1.63
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol (1996) 1.60
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord (2003) 1.56
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Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve Suppl (1995) 1.43
Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet (1995) 1.43
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Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet (1996) 1.42
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The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics (1999) 1.17
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Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.13
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Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett (2003) 0.98
Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve Suppl (1995) 0.96
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenet Cell Genet (2000) 0.95
Improved characterization of FSHD mutations. Ann Genet (2001) 0.94
Use of myoblast cultures to study mitochondrial myopathies. Methods Enzymol (1996) 0.92
New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector. Lancet (1999) 0.82
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Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology (2004) 1.73
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