Similar studies for GEO DataSets (Select 200143492) - GEO DataSets

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Items: 20

Select item 2001434921.

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei [Fluidigm]

(Submitter supplied) FSHD is characterized by the misexpression of DUX4 in skeletal muscle. Although DUX4 upregulation is thought to be the pathogenic cause of FSHD, DUX4 is lowly expressed in patient samples, and analysis of the consequences of DUX4 expression has largely relied on artificial overexpression. To better understand the native expression profile of DUX4 and its targets, we first performed pooled RNA-seq on a 6-day differentiation time-course in FSHD2 patient-derived primary myoblasts. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
317 Samples

Download data: TXT

Series

Accession:: GSE143492

ID:: 200143492

PubMed Full text in PMC Similar studies SRA Run Selector

Select item 2001434932.

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
397 Samples

Download data: CSV, TXT

Series

Accession:: GSE143493

ID:: 200143493

PubMed Full text in PMC Similar studies

Select item 2001434533.

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei [Time course]

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
72 Samples

Download data: CSV, TXT

Series

Accession:: GSE143453

ID:: 200143453

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Select item 2001434524.

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei [ddSeq]

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
8 Samples

Download data: CSV

Series

Accession:: GSE143452

ID:: 200143452

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Select item 2000261455.

Expression profiling FSHD vs. control myoblasts and myotubes

(Submitter supplied) The gene expression pathways leading to muscle pathology in facioscapulohumeral dystrophy (FSHD) remain to be elucidated. This muscular dystrophy is caused by a contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35.2. We compared expression of control and FSHD myoblasts and myotubes (three preparations each) on exon microarrays (Affymetrix Human Exon 1.0 ST) and validated FSHD-specific differences for representative genes by qRT-PCR on additional myoblast cell strains. more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL5175
12 Samples

Download data: CEL, CHP

Series

Accession:: GSE26145

ID:: 200026145

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Select item 2001131336.

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures

(Submitter supplied) Facioscapulohumeral muscular dystrophy (FSHD) is caused by insufficient epigenetic repression of D4Z4 macrosatellite repeat where DUX4, an FSHD causing gene is embedded. There are two forms of FSHD, FSHD1 with contraction of D4Z4 repeat and FSHD2 with chromatin compaction defects mostly due to SMCHD1 mutation. Previous reports showed DUX4-induced gene expression changes as well as changes in microRNA expression in FSHD muscle cells. more...

Organism:: Homo sapiens

Type:: Non-coding RNA profiling by high throughput sequencing

Platform:: GPL11154
10 Samples

Download data: CSV, RDA

Series

Accession:: GSE113133

ID:: 200113133

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Select item 2000854617.

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

(Submitter supplied) Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of the double-homeodomain transcription factor DUX4 in skeletal muscle cells. Many different cell culture models have been developed to study the pathophysiology of FSHD, frequently based on endogenous expression of DUX4 in FSHD cells or by mis-expression of DUX4 in control human muscle cells. Although results generated using each model are generally consistent, differences have also been reported, making it unclear which model(s) faithfully recapitulate DUX4 and FSHD biology. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18460
8 Samples

Download data: CSV

Series

Accession:: GSE85461

ID:: 200085461

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Select item 2001228738.

single-cell RNA sequencing in patient-derived primary myocytes for facioscapulohumeral muscular dystrophy

(Submitter supplied) Facioscapulohumeral muscular dystrophy (FSHD) is characterized by sporadic de-repression of the transcription factor DUX4 in skeletal muscle. We employed single-cell RNA-sequencing, combined with pseudotime trajectory modeling, to study FSHD disease etiology and cellular progression in human primary myocytes. We identified a small FSHD-specific cell population in all tested patient-derived cultures and detected new genes associated with DUX4 de-repression. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL18573
6 Samples

Download data: TXT

Series

Accession:: GSE122873

ID:: 200122873

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Select item 2000510419.

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

(Submitter supplied) The human double-homeodomain retrogene DUX4 is expressed in the testis and epigenetically repressed in somatic tissues. Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that decrease the epigenetic repression of DUX4 in somatic tissues and result in mis-expression of this transcription factor in skeletal muscle. DUX4 binds sites in the human genome that contain a double-homeobox sequence motif, including sites in unique regions of the genome as well as many sites in repetitive elements. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
5 Samples

Download data: CSV

Series

Accession:: GSE51041

ID:: 200051041

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Select item 20004588310.

Retroelements and DUX4 Create Primate-specific Promoters for Germline Genes

(Submitter supplied) The human double-homeodomain retrogene DUX4 is normally expressed at high levels in germ cells of the testis. When aberrantly expressed in muscle its protein product causes facioscapulohumeral muscular dystrophy (FSHD), perhaps partly by inducing inappropriate expression of germline genes. DUX4 can bind >60,000 locations in the human genome that contain a strongly enriched sequence motif. Numerous long terminal repeat (LTR) class repetitive elements are enriched among DUX4 binding sites, including many from the mammalian apparent LTR-retrotransposon (MaLR) family as well as some ERVL and ERVK types, with MaLRs comprising ~1/3 of DUX4’s binding sites. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL10999
4 Samples

Download data: TXT

Series

Accession:: GSE45883

ID:: 200045883

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Select item 20015330111.

P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy

(Submitter supplied) Here, we describe the identification and characterization of p38α as a novel regulator of DUX4 expression in FSHD myotubes. By using multiple highly characterized, potent and specific inhibitors of p38α/β, we show a robust reduction of DUX4 expression, activity and cell death across FSHD1 and FSHD2 patient-derived lines. RNA-seq profiling reveals that a small number of genes are differentially expressed upon p38α/β inhibition, the vast majority of which are DUX4 target genes. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL11154
12 Samples

Download data: XLSX

Series

Accession:: GSE153301

ID:: 200153301

Select item 20015352312.

DUX4-expressing immortalised FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation

(Submitter supplied) RNAseq of FSHD and control LCLs and primary myoblasts with corresponding in vitro differentiated myotubes

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
30 Samples

Download data: TXT

Series

Accession:: GSE153523

ID:: 200153523

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Select item 20012346813.

RNA-seq of FSHD and control immortalised myoblasts II

(Submitter supplied) FSHD myoblasts show a suppression of ESRRA and PPARGC1A during myogenesis

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
63 Samples

Download data: CSV

Series

Accession:: GSE123468

ID:: 200123468

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Select item 20010281214.

RNA-seq of FSHD and control immortalised myoblasts I

(Submitter supplied) FSHD and control immortalised myoblasts show repression of Pax7 target genes

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
27 Samples

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Series

Accession:: GSE102812

ID:: 200102812

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Select item 20002606115.

Expression profiling of 4q-linked and phenotypic FSHD in different steps of myogenic differentiation

(Submitter supplied) The specific gene(s) responsible for FSHD phenotype have not yet been identified. We used the Human GeneChip Exon 1.0 ST platform to analyze the global gene expression profiles of FSHD-1, FSHD-2 and controls during myogenic differentiation. In this dataset, we include the expression data of human primary myoblasts obtained from three FSHD-1 and two FSHD-2 patients, and three healthy controls (CN). This data are used to evaluate the molecular perturbation of FSHD upon muscle differentiation; we compared patients and CN proliferating myoblasts as well as the corresponding myotubes obtained after 8 days of cell differentiation.

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL8238
16 Samples

Download data: CEL

Series

Accession:: GSE26061

ID:: 200026061

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 20014026116.

Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies

(Submitter supplied) Advances in understanding the pathophysiology of facioscapulohumeral dystrophy (FSHD) have led to the discovery of candidate therapeutics and it is important to identify markers of disease activity and progression to inform clinical trial design. For drugs that inhibit the expression of DUX4, measuring DUX4 or DUX4 target gene expression might be an interim outcome measure of drug activity, however, only a subset of muscle biopsies in FSHD show evidence of DUX4 expression. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
35 Samples

Download data: CSV, RDA

Series

Accession:: GSE140261

ID:: 200140261

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Select item 20005678717.

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

(Submitter supplied) Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most of the molecular changes seen in FSHD. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
38 Samples

Download data: CSV

Series

Accession:: GSE56787

ID:: 200056787

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Select item 20017376218.

Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy

(Submitter supplied) Muscles of patients with facioscapulohumeral dystrophy (FSHD) are characterized by sporadic DUX4 expression and oxidative stress which is at least partially induced by DUX4 protein. Nevertheless, targeting oxidative stress with antioxidants has a limited impact on FSHD patients, and the exact role of oxidative stress in the pathology of FSHD, as well as its interplay with the DUX4 expression, remain unclear. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL11154
12 Samples

Download data: CSV

Series

Accession:: GSE173762

ID:: 200173762

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Select item 20021000819.

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

(Submitter supplied) We identified MATR3 as the first direct endogenous inhibitor of DUX4. We found that MATR3 directly binds to DUX4 DNA-binding domain and blocks DUX4-mediated gene expression. As a result, MATR3 administration rescues cell viability and myogenic differentiation of FSHD muscle cells, while it does not affect healthy muscle cells. Notably, we characterized a short MATR3 fragment that is necessary and sufficient to directly block DUX4-induced toxicity to the same extent of the full-length protein.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24676
8 Samples

Download data: TXT

Series

Accession:: GSE210008

ID:: 200210008

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Select item 20008749520.

DUX4-induced dsRNA and MYC mRNA Stabilization Activate Apoptotic Pathways in Human Cell Models of Facioscapulohumeral Dystrophy

(Submitter supplied) Facioscapulohumeral muscular dystophy (FSHD) is caused by the mis-expression of DUX4 in skeletal muscle cells. DUX4 is a transcription factor that activates genes normally associated with stem cell biology and its mis-expression in FSHD cells results in apoptosis. To identify genes and pathways necessary for DUX4-mediated apoptosis, we performed an siRNA screen in an RD rhabdomyosarcoma cell line with an inducible DUX4 transgene. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL16791
6 Samples

Download data: CSV, RDA

Series

Accession:: GSE87495

ID:: 200087495

PubMed Full text in PMC Similar studies Analyze with GEO2R SRA Run Selector

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