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TranscriptomicsTranscription profiling of human muscle biopsies from Duchenne muscular dystrophy subjects treated with oxandrolone
Three subjects with Duchenne muscular dystrophy (8.3, 10.4, and 16.7 years old) were studied. Baseline studies included stable isotope infusion followed by gastrocnemius muscle biopsy to determine myosin heavy chain synthesis rates. RNA was isolated from the muscle biopsy as well. The subjects were ...
ORGANISM(S): Homo sapiens 
2007-08-25 | E-GEOD-1764 | biostudies-arrayexpress
TranscriptomicsMouse Models for Muscular Dystrophy
Comparative analysis of gene expression levels from hindlimb muscle tissue from 8 week old mouse models for muscular dystrophy. We have used mouse models with dystrophin-, sarcoglycan-, sarcospan-, or dysferlin-deficiency. Keywords = muscular dystrophy
ORGANISM(S): Mus musculus 
2010-06-06 | E-GEOD-2112 | 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
TranscriptomicsRNA-seq from myogenic satellite cells from a translational porcine model for Duchenne muscular dystrophy, heterozygous female carriers, and their healthy wild-type counterpart
Satellite cells (SCs), the stem cell population of skeletal muscle, are crucial for growth and regeneration, and their dysfunction is increasingly recognized as a contributing factor to Duchenne muscular dystrophy (DMD). DMD is a severe, X-linked disorder caused by DMD gene mutations, leading to lo...
ORGANISM(S): Sus scrofa 
2025-12-11 | E-MTAB-16179 | biostudies-arrayexpress
TranscriptomicsGene expression profiling in tibial muscular dystrophy and control skeletal muscle
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle cells in TMD is largely unknown. To identify the...
ORGANISM(S): Homo sapiens 
2014-03-11 | E-GEOD-42806 | biostudies-arrayexpress
TranscriptomicsGene expression profile of human iPS cell-derived mesoangioblasts (HIDEMs)
Mesoangioblasts are stem/progenitor cells derived from a subset of pericytes expressing alkaline phosphatase. They have been shown to ameliorate muscular dystrophies (currently incurable diseases) in different animal models and are now undergoing clinical experimentation for Duchenne muscular dystro...
ORGANISM(S): Homo sapiens 
2012-07-08 | E-GEOD-36098 | biostudies-arrayexpress
TranscriptomicsDeletion of DMD exon 52 in the pig results in fulminant muscular dystrophy
Duchenne muscular dystrophy (DMD) is caused by mutations in the X-linked dystrophin (DMD) gene. The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death. To establish a tailored large animal model of DMD, we deleted DMD exon 52 in male pig cells by gen...
ORGANISM(S): Sus scrofa 
2013-08-06 | E-GEOD-44096 | biostudies-arrayexpress
ProteomicsOrthogonal proteomics methods warrants development of Duchenne Muscular Dystrophy biomarkers
Background: Molecular components in blood, such as proteins, are used as biomarkers to detect or predict disease states, guide clinical interventions and aid in the development of therapies. While multiplexing proteomics methods promote discovery of such biomarkers, their translation to clinical use...
ORGANISM(S): Homo Sapiens 
2023-06-13 | PXD038089 | panorama
TranscriptomicsTranscription profiling of skeletal and cardiac muscles in dysferlin-deficient SJL/J mice and wild type mice to understand the protective mechanisms against dysferlin deficiency in cardiac muscles.
Dysferlin is expressed in skeletal and cardiac muscle. However, dysferlin deficiency, namely limb girdle muscular dystrophy 2B (LGMD2B) and Myoshi myopathy, results in skeletal muscle weakness and spares the heart. This dichotomy could be caused by differential regulation of protective mechanisms. T...
ORGANISM(S): Mus musculus 
2007-09-04 | E-GEOD-2507 | 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
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