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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

ABSTRACT: This project includes RNA-sequencing data from human FSHD and control skeletal muscle biopsies. This project includes data from 28 FSHD patients (total 37 samples, including vastus lateralis and tibialis anterior muscles) and 12 control individuals (total 24 samples, including vastus lateralis and tibialis anterior muscles).

PROVIDER: EGAS00001005782 | EGA |

REPOSITORIES: EGA

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1beb7e6d-a63e-4d70-a216-c4aa9477f6c1 - samples

Project description:This project includes RNA-sequencing data from human FSHD and control skeletal muscle biopsies. This project includes data from 28 FSHD patients (total 37 samples, including vastus lateralis and tibialis anterior muscles) and 12 control individuals (total 24 samples, including vastus lateralis and tibialis anterior muscles).

| EGAD00001008337 | EGA

Skeletal muscle allotypes

Project description:Expression profiling of 8 skeletal muscles from adult C57BL mice. Extraocular, temporalis, anterior digastric, sternocleidomastoid, triceps, diaphragm, quadraceps femoris (vastus lateralis), and tibialis anterior were evaluated using Affymetrix 430 v.2 arrays. Keywords: parallel sample

2005-09-27 | GSE1806 | GEO

Transcription profiling of mouse adult C57BL Skeletal muscle allotypes

2008-06-11 | E-GEOD-1806 | biostudies-arrayexpress

Rbfox1 downregulation and altered Calpain 3 splicing by FRG1 in a mouse model of facioscapulohumeral muscular dystrophy (FSHD).

Project description:FRG1 over-expression results in an FSHD-like phenotype in mice. Muscles (vastus lateralis and biceps brachii) from wild type and FRG1 over-expressing mice were compared at 4 and 13 weeks of age by splicing sensitive microarray.

2012-12-01 | GSE32073 | GEO

Expression array analysis of myotonic dystrophy type 2 (DM2) muscle biopsies versus controls

Project description:The hypothesis was that different genes are abnormally expressed in DM2 biopsies compared to controls. Total RNA was obtained from DM2 vastus lateralis biopsies and compared to vastus lateralis control biopsies.

2014-05-04 | E-GEOD-45331 | biostudies-arrayexpress

Rbfox1 downregulation and altered Calpain 3 splicing by FRG1 in a mouse model of facioscapulohumeral muscular dystrophy (FSHD).

2012-12-01 | E-GEOD-32073 | biostudies-arrayexpress

Expression profiling of FRG1 transgenic mice.

Project description:RNA from skeletal muscle of mice over-expressing selectively in the skeletal muscle the gene FRG1, a candidate of facioscapulohumeral muscular dystrophy, was compared to RNA from skeletal muscle of WT mice. Total RNA obtained from isolated vastus lateralis muscles of 4 weeks old females WT mice and vastus lateralis muscles of 4 weeks old mice over-expressing FRG1, FSHD region gene 1.

2013-09-04 | E-GEOD-28575 | biostudies-arrayexpress

A transcriptome atlas of human skeletal muscles

Project description:We generated a large transcriptome atlas of human skeletal muscles by collecting biopsies from 6 different muscles to determine molecular signatures that may be distinct between leg muscles. The biopsies were collected from gracilis (GR), semitendinosus (ST), vastus lateralis (VL), vastus medialis (VM), rectus femoris (RF), and gastrocnemius lateralis (GL) muscles. We also investigated molecular differences within the muscle by including two biopsies from the middle and distal sides of the semitendinosus muscle (STM and STD, respectively). In total, 128 samples from 20 individuals (aged 25 Ã‚Â± 3.6 yr) were analyzed.

| EGAS00001005904 | EGA

56708f83-d762-4a04-a3d4-ef17e96ef1fe - samples

| EGAD00001008657 | EGA

Differential isoform expression and selective muscle involvement in muscular dystrophies

Project description:To test the hypothesis that different muscles may express variable amounts of different isoforms of muscle genes, we applied a custom-designed exon microarray containing probes for 57 muscle-specific genes to assay the transcriptional profiles in sets of human adult, lower limb skeletal muscles. Muscle biopsies from 15 individuals were selected for analysis dissected from 21 anatomically different muscles collected from eight men and seven women, ranging from 61 to 91 years The muscle tissue samples collected included samples from 11 different thigh muscles––vastus medialis, vastus lateralis, vastus intermedialis, sartorius, gracilis, semimembranosus, semitendinosus, biceps femoris, adductor magnus, adductor longus, and rectus femoris––and 10 lower leg muscles––flexor digitorum longus, extensor digitorum longus, tibialis posterior, tibialis anterior, peroneus longus/brevis, extensor hallucis longus, gastrocnemius lateralis, gastrocnemius medialis, flexor hallucis longus, and soleus. Approximately five to seven muscle pieces were collected from each individual muscle sampled. The muscle sample pieces obtained for histological analysis measured roughly 10 mm x 5 mm, and the pieces for RNA isolation 5 mm x 5 mm. The samples were obtained directly from the proximal vital parts of the amputated limbs and processed immediately following their removal to avoid tissue degradation.To test the hypothesis that different muscles may express variable amounts of different isoforms of muscle genes, we applied a custom-designed Agilent exon microarray containing probes for 57 muscle-specific genes to assay the transcriptional profiles in sets of human adult, lower limb skeletal muscles

2015-06-17 | E-GEOD-69938 | biostudies-arrayexpress

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