Ontology highlight
ABSTRACT:
SUBMITTER: Krom YD
PROVIDER: S-EPMC3463638 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Krom Yvonne D YD Dumonceaux Julie J Mamchaoui Kamel K den Hamer Bianca B Mariot Virginie V Negroni Elisa E Geng Linda N LN Martin Nicolas N Tawil Rabi R Tapscott Stephen J SJ van Engelen Baziel G M BG Mouly Vincent V Butler-Browne Gillian S GS van der Maarel Silvère M SM
The American journal of pathology 20120804 4
In most cases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the 4q subtelomere. This contraction is associated with local chromatin decondensation and derepression of the DUX4 retrogene. Its complex genetic and epigenetic cause and high clinical variability in disease severity complicate investigations on the pathogenic mechanism underlying FSHD. A validated cellular model bypassing the considerable heterogeneity would facilitate mechanistic and the ...[more]