Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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Title
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Authors
Keywords
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Journal
NATURE GENETICS
Volume 44, Issue 12, Pages 1370-1374
Publisher
Springer Nature
Online
2012-11-12
DOI
10.1038/ng.2454
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Note: Only part of the references are listed.- A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
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- Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
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- (2010) Richard J.L.F. Lemmers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo
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- Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families
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- Clinical features of facioscapulohumeral muscular dystrophy 2
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- Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
- (2010) Lauren Snider et al. PLoS Genetics
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- RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
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- Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
- (2009) Jessica C. de Greef et al. HUMAN MUTATION
- Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
- (2009) Weihua Zeng et al. PLoS Genetics
- An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
- (2008) Darko Bosnakovski et al. EMBO JOURNAL
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- SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
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