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GSE207593 Effect of depletion of the gne gene in Zebrafish
Contributors : Hagay Livne ; Alon Daya ; Shmuel Ruppo ; Stella Mitrani-RosenbaumSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioGNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis pathway. However, the process in which GNE mutations lead to the development of a muscle pathology is not clear yet. Cellular and mouse models for GNE Myopathy established to date have not been informative. Further...
Source: GEO: Gene Expression Omnibus - October 26, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research

GSE202046 Effect of depletion of the Gne gene in Sol8 murine muscle cells
Contributors : Nili Ilouz ; Miriam Guttman ; Shmuel Ruppo ; Stella Mitrani-RosenbaumSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusGNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene. Although the encoded bifunctional enzyme is well known as the limiting factor in the biosynthesis of sialic acid, no clear mechanisms have been recognized to account for the muscle atrophic pathology, and novel functions for GNE have been hypothesized. No reliable animal mode...
Source: GEO: Gene Expression Omnibus - October 26, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

GSE153068 FoxP1 is sufficient and required for skeletal muscle wasting
Contributors : Sarah Judge ; Andrew Judge ; Daria Neyroud ; Rachel NosackaSeries Type : Expression profiling by arrayOrganism : Mus musculusSkeletal muscle wasting is a devastating consequence of cancer that affects up to 80% of cancer patients and associates with reduced survival. Herein we identified the transcriptional repressor protein, Forkhead box P1 (FoxP1), as a downstream target gene of FoxO1 whose skeletal muscle expression is elevated in multiple models of cancer cachexia and in patients with cancer who exhibit cachexia. Through generation of inducible skeletal muscle-specific FoxP1 over-expressing (FoxP1iSkmTg/...
Source: GEO: Gene Expression Omnibus - April 28, 2021 Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research

GSE103270 Transcriptional profile in dermal fibroblasts from patients with collagen VI related muscular dystrophy
Contributors : Russell J Butterfield ; Robert B WeissSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensObjectives: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies, but the pathogenesis, including the role of mutant collagen VI in the matrix is poorly understood. To better define the pathways disrupted by mutations in collagen VI, we have used a transcriptional profiling approach with RNA-Seq to identify differentially expressed genes in COL6-RD patient...
Source: GEO: Gene Expression Omnibus - December 4, 2017 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research