Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA75791 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:The Congenital Muscular Dystrophy Genotype and Phenotype Study
| PRJNA75789 | ENA
Project description:Global gene expression analysis was performed comparing human skeletal muscle samples from patients with various forms of muscular dystrophy and mitochondrial myopathies in order to identify specific gene expression changes associated with collagen VI deficiency (leading to UllrichM-BM-4s Congenital Muscular Dystrophy) and depletion of mitochondrial DNA relative to other mitochondrial myopathies We analysed the gene expression profile of skeletal muscle from children suffering from mitochondrial myopathies and various forms of muscular dystrophy relative to skeletal muscle from healthy children using commercially available arrays that represents the complete human genome (Agilent Human SurePrintGE, 8x60K )
2015-01-20 | E-GEOD-43698 | biostudies-arrayexpress
Project description:Comparative Genomic Hybridization: genomic control vs. Ullrich Congenital Muscular Dystrophy and Bethlem myopathy
| PRJNA124107 | ENA
Project description:Global gene expression analysis was performed comparing human skeletal muscle samples from patients with various forms of muscular dystrophy and mitochondrial myopathies in order to identify specific gene expression changes associated with collagen VI deficiency (leading to Ullrich´s Congenital Muscular Dystrophy) and depletion of mitochondrial DNA relative to other mitochondrial myopathies
2015-01-20 | GSE43698 | GEO
Project description:TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy. Here we present the diagnostic journey of a patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Initial exome sequencing analysis revealed no candidate variants. Reanalysis of the exome data by inclusion in the Solve-RD project resulted in the identification of a homozygous stop-gain variant in the TRIP4 gene, previously reported as disease-causing. This highlights the importance of analysis reiteration and improved and updated bioinformatic pipelines. Proteomic profile of the patient’s fibroblasts showed altered RNA-processing and impaired exosome activity supporting the pathogenicity of the detected variant. In addition, we identified a novel genetic form of PCH1, further strengthening the link of this characteristic phenotype with altered RNA metabolism.
2022-02-16 | PXD023584 | Pride
Project description:<p>The samples are drawn from a collection of patients with a heterogeneous set of neuromuscular disorders, including congenital muscular dystrophy, congenital myopathy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and arthrogryposis, along with unaffected parents and siblings in some cases. The samples were collected by clinicians affiliated with the Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 and sequencing was performed on an Illumina HiSeq 2000.</p>
| phs000655.v1.p1 | EGA
Project description:Muscular dystrophy patient's panel based sequence data
| PRJNA692340 | ENA
Project description:In this study, we aim to identify common miRNA signatures in the pathogenesis of different NMD groups (Duchenne Muscular Dystrophy, Megaconial Congenital Muscular Dystrophy (CMD), Ullrich CMD and alpha-dystroglycanopathy) (abbreviated as D, M, U, and A, respectively) each caused by mutations in different genes encoding proteins with distinct roles. For this purpose, we isolated miRNAs from the skeletal muscle tissues of three patients from four disease groups and three control individuals (15 individuals in total) and we performed miRNA microarray method (Affymetrix GeneChip miRNA 4.0 Array). In order to find out differentially expressed miRNAs in patients, we analyzed raw data by two different databases. Differentially expressed miRNAs that were found to be statistically significant by using both the programs (with parameters, fold change ≥2.0 and FDR=0 for MeV-SAM analysis; and p<0.05 for TAC-ANOVA analysis) were identified as the potential miRNA candidates.
2020-06-22 | E-MTAB-9030 | biostudies-arrayexpress
Project description:Affymetrix SNP array data for muscular dystrophy samples
| PRJNA352430 | ENA
Project description:Nondystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal Study CINCH 5303
| PRJNA185250 | ENA