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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
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
UnknownGlobal FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Not available
S-EPMC7261761 | biostudies-literature
TranscriptomicsGenotyping of autosomal recessive type of limb-girdle muscular dystrophies
26 limb-girdle muscular dystrophy patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 204 healthy unrelated controls were genotyped for 96 most frequent known limb-girdle muscular dystrophies causing mutations for the region, usi...
ORGANISM(S): Homo sapiens 
2016-04-28 | E-MTAB-4662 | biostudies-arrayexpress
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
GenomicsBiallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
PRJNA1065958 | ENA
UnknownA novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
Not available
S-EPMC9429833 | biostudies-literature
UnknownSatellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.
Not available
S-EPMC3336976 | biostudies-literature
UnknownChildhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.
Not available
S-EPMC5464953 | biostudies-literature
ProteomicsProteomic profiling of dysferlin microdeletion–induced skeletal muscle remodeling in a knock-in mouse model
This project examines the proteomic impact of dysferlin deficiency using a genetically defined knock-in mouse model carrying a five-nucleotide microdeletion in the Dysf gene that corresponds to a pathogenic variant identified in limb-girdle muscular dystrophy type R2 (LGMD-R2) patients. Dysferlin is...
ORGANISM(S): Mus musculus (Mouse) 
2026-04-09 | PXD073710 | Pride
Dysferlinopathy  limb-girdle muscular dystrophy  skeletal muscle proteomics  dia-pasef mass spectrometry 
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