GEO DataSets

Analysis of skeletal muscles from patients with limb girdle muscular dystrophy 2A (LGMD2A). LGMD2A is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Results provide insight into the molecular pathogenesis of LGMD2A.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 2 disease state sets

Platform:

GPL96

Series:

GSE11681

20 Samples

Download data: CEL

(Submitter supplied) The aim of this study was to identify the genes showing an altered expression in LGMD2A patients and the possible pathways they are implicated in. Ten muscle samples from patients with calpainopathy in which molecular diagnosis was ascertained were invest Keywords: Comparative genomic hybridization

Organism:

Homo sapiens

Type:

Expression profiling by array

Datasets:

GDS3474 GDS3475

Platforms:

GPL96 GPL97

37 Samples

Download data: CEL

Analysis of skeletal muscles from patients with limb girdle muscular dystrophy 2A (LGMD2A). LGMD2A is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Results provide insight into the molecular pathogenesis of LGMD2A.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 2 disease state sets

Platform:

GPL97

Series:

GSE11681

17 Samples

Download data: CEL

(Submitter supplied) The knock-out of calpain 3 (C3KO) is a murine model for calpainopathies wich shows a mild dystrophic phenotype with signs of muscle degeneration. Adult (A) mice show a more severe phenotype than young (Y) mice which only present inflammatory infiltrates in most severely affected muscles, such as the soleus. Other muscles (e.g. quadriceps) are much less affected. We used microarray technology to compare gene expression profiles of young and adult muscles in wild-type (wt) and C3KO mice, in two types of muscle: soleus (affected) and quadriceps (much less affected).

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL1261

42 Samples

Download data: CEL

(Submitter supplied) Microarray profiling to determine muscle cell-specific consequences of calpain-3 deficiency

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6887

6 Samples

Download data: IDAT, TXT

(Submitter supplied) Microarray profiling to determine muscle cell-specific consequences of calpain-3 deficiency

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6887

6 Samples

Download data: IDAT, TXT

(Submitter supplied) LGMDD2 is a rare form of muscular dystrophy characterized by a heterozygous deletion within the TNPO3 gen, firstly reported in a large Spanish family in 2001. TNPO3-wildtype is involved in the nuclear import of the essential splicing factors, a function altered in the mutated protein. Our group has shown that both TNPO3-wildtype and TNPO3-mutated proteins are translated in these patients. Besides its role in LGMDD2 disease, TNPO3 is also a HIV-1 co-factor but the mechanism underlying its antiviral action is still controversial. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL21697

20 Samples

Download data: TXT