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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
TranscriptomicsGene expression profiles in muscle tissue from FSHD patients
Muscle biopsies from biceps and deltoid were taken from 5 patients with FSHD, 5 asymptomatic carriers and 5 normal controls. The genome-wide expression patterns were compared using Affymetrix U133 Plus 2.0 chips. Keywords: Facioscapulohumeral, FSHD, muscular dystrophy Gene expression profiles were ...
ORGANISM(S): Homo sapiens 
2009-03-04 | E-GEOD-15090 | biostudies-arrayexpress
TranscriptomicsExpression profiling of 4q-linked and phenotypic FSHD in different steps of myogenic differentiation
The specific gene(s) responsible for FSHD phenotype have not yet been identified. We used the Human GeneChip Exon 1.0 ST platform to analyze the global gene expression profiles of FSHD-1, FSHD-2 and controls during myogenic differentiation. In this dataset, we include the expression data of human pr...
ORGANISM(S): Homo sapiens 
2011-07-07 | E-GEOD-26061 | biostudies-arrayexpress
TranscriptomicsTranscriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. In order to develop mRNA-based biomarkers of affected muscles, we used GeneChip Gene 1.0 ST arrays for global analysi...
ORGANISM(S): Homo sapiens 
2012-09-19 | E-GEOD-36398 | biostudies-arrayexpress
TranscriptomicsAn allele-aware approach identifies altered nuclear associations of the contracted D4Z4 array at the FSHD locus
Facioscapulohumeral dystrophy (FSHD) is caused by a deletion in a D4Z4 macrosatellite repeat array in the 4q subtelomere that leads to somatic de-repression of the transcription factor DUX4. It is not fully understood how array contractions cause de-repression, but they alter the local chromatin str...
ORGANISM(S): Homo sapiens 
2013-08-31 | E-GEOD-40673 | biostudies-arrayexpress
GenomicsDUX4 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-33838 | biostudies-arrayexpress
UnknownDUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation.
Not available
S-EPMC7424723 | biostudies-literature
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
UnknownMeeting report: the 2021 FSHD International Research Congress.
Not available
S-EPMC8762812 | biostudies-literature
TranscriptomicsCorrection of the FSHD myoblast differentiation defect by fusion with healthy myoblasts
Facioscapulohumeral dystrophy (FSHD) is a neuromuscular disease characterized by progressive asymmetric muscle weakness. Myoblasts isolated from FSHD muscles exhibit morphological differentiation defects and show a distinct transcription profile. These abnormalities may be linked to the muscle weakn...
ORGANISM(S): Homo sapiens 
2015-08-17 | E-MTAB-3658 | biostudies-arrayexpress
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