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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
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
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
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
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
TranscriptomicsTranscription profiling of human Facioscapulohumeral muscular dystrophy (FSHD) muscle profiles
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular dis...
ORGANISM(S): Homo sapiens 
2008-06-16 | E-GEOD-9397 | biostudies-arrayexpress
TranscriptomicsExpression profiling of FRG1 transgenic mice.
RNA from skeletal muscle of mice over-expressing selectively in the skeletal muscle the gene FRG1, a candidate of facioscapulohumeral muscular dystrophy, was compared to RNA from skeletal muscle of WT mice. Total RNA obtained from isolated vastus lateralis muscles of 4 weeks old females WT mice and ...
ORGANISM(S): Mus musculus 
2013-09-04 | E-GEOD-28575 | biostudies-arrayexpress
ProteomicsProteomics of muscle microdialysates identifies potential circulating biomarkers in Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a complex epigenetic mechanism finally leading to the misexpression of DUX4, a transcription factor normally silenced in skeletal muscle. Detecting DUX4 in skeletal muscle and quantifying disease progression in FSHD is extremely challenging,...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD021838 | Pride
Facioscapulohumeral muscular dystrophy Proteomics Inflammatory response Biomarkers Fshd 
ProteomicsInteractome of the long non-protein coding RNA (lncRNA) D4Z4 binding element-transcript (DBE-T)
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited progressive neuromuscular disorder that afflicts both children and adults regardless of gender. FSHD is caused by aberrant gain of expression of the transcription factor DUX4, which triggers a pro-apoptotic transcriptional program leading...
ORGANISM(S): Homo sapiens (Human) 
2023-04-11 | PXD036038 | Pride
Facioscapulohumeral muscular dystrophy (fshd) Long non-protein coding rna Affinity proteomics 
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
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