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TranscriptomicsDUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited muscular dystrophies. The causative gene remains controversial and the mechanism of pathophysiology unknown. Here we identify genes associated with germline and early stem cell development as targets of the DUX4 transcription f...
ORGANISM(S): Homo sapiens 
2012-01-03 | E-GEOD-33799 | biostudies-arrayexpress
TranscriptomicsDUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiolog...
ORGANISM(S): Homo sapiens 
2014-07-03 | E-GEOD-56787 | biostudies-arrayexpress
GenomicsGenetics of Cerebral Hemorrhage with Anticoagulation (GOCHA)

This is a prospective, longitudinal cohort study of spontaneous ICH. Subjects were recruited from among consecutive patients ≥ 55 years old who presented with primary hemorrhage to the Massachusetts General Hospital or one of our off-site collaborators from 1999 to 2010. Potential subjects ...

phs000416.v1.p1 | EGA
TranscriptomicsDUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.
The human double-homeodomain retrogene DUX4 is expressed in the testis and epigenetically repressed in somatic tissues. Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that decrease the epigenetic repression of DUX4 in somatic tissues and result in mis-expression of this transcr...
ORGANISM(S): Homo sapiens 
2014-03-19 | E-GEOD-51041 | biostudies-arrayexpress
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