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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
ProteomicsProtein accumulation post-LASIK surgery in granular corneal dystrophy type II patients involves altered proteolytic processing of transforming growth factor beta-induced protein (TGFBIp)
his study present the protein profile of diseased cornea from granular corneal dystrophy patients developing protein accumulation after LASIK surgery. Extracted ion chromatography (XIC) label free quantification was perform using Mascot Distiller software. In addition, 2D-PAGE followed by western bl...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-10-04 | MSV000080219 | MassIVE
TranscriptomicsmicroRNAs expression profile in Myotonic Dystrophy type-2 (DM2) patients
Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal muscles, the heart, the eye, the central nervous system and the endocrine system The expression of 365 miRNAs was measured in the mu...
ORGANISM(S): Homo sapiens 
2012-08-27 | E-GEOD-37794 | 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
MetabolomicsNon-targeted Metabolomics Analysis of Golden Retriever Muscular Dystrophy-Affected Muscles Reveals Alterations in Arginine and Proline Metabolism, and Elevations in Glutamic and Oleic Acid In Vivo
Not available
ORGANISM(S): Canis lupus familiaris 
ST000623 | MetabolomicsWorkbench
ProteomicsProtein composition of TGFBI-R124C and TGFBI-R555W associated aggregates suggests multiple mechanisms leading to Lattice and Granular corneal dystrophy
Transforming Growth Factor Beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. However, other than the underlying genotypes of these conditions, a limited knowledge exists of the exact pathomechanisms of these disorders. This study expa...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-07-22 | MSV000079985 | MassIVE
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
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 
PXD038089 | panorama
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