Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/s41467-017-00730-1.pdf
Reference35 articles.
1. Deenen, J. C. et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 83, 1056–1059 (2014).
2. Gabellini, D., Green, M. R. & Tupler, R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110, 339–348 (2002).
3. Zeng, W. et al. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 5, e1000559 (2009).
4. van Overveld, P. G. et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat. Genet. 35, 315–317 (2003).
5. de Greef, J. C. et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum. Mutat. 30, 1449–1459 (2009).
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