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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 
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 
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 
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 
Congenital myopathies (CMs) are progressive diseases that constitute a diverse group of hereditary neuromuscular disorders that have been studied due to their diagnostic and therapeutic complexity. Due to the great clinical and molecular heterogeneity of CMs, this set of diseases constantly challeng...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD050694 | Pride
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 
Muscle degeneration in the heart of 1-9 month-old mdx mice (a model for Duchenne muscular dystrophy) has been monitored using metabolomic and proteomic approaches. In both data sets, a pronounced aging trend was detected in control and mdx mice, and this trend was separate from the disease process. ...
2017-03-14 | MTBLS256 | MetaboLights
Molecular profiles of dystophin-deficient patients and normal human skeletal muscles on Affymetrix HG-U95A arrays Keywords = DMD Keywords = Duchenne muscular dystrophy Keywords = dystrophin Keywords = Affymetrix U95A array Keywords = skeletal muscle Keywords = gene expression profiles Keywords: othe...
ORGANISM(S): Homo sapiens 
We developed a novel somite-based step-wise strategy for the efficient derivation of functional human myocytes, suggesting that past failures were due to incomplete specification. Treatment with two small molecules inhibiting glycogen synthase kinase 3β (GSK-3β) and the Notch signaling pathway in ...
ORGANISM(S): Homo sapiens 
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