Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Exercise Reverses Dysregulated Gene Expression in a Desmoplakin Haplo-insufficient Mouse Model of Arrhythmogenic Cardiomyopathy

ABSTRACT: Exercise Reverses Dysregulated Gene Expression in a Desmoplakin Haplo-insufficient Mouse Model of Arrhythmogenic Cardiomyopathy

PROVIDER: PRJNA533295 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR8923120_1.fastq.gz	Fastqsanger.gz
	SRR8923120_2.fastq.gz	Fastqsanger.gz
	SRR8923130_1.fastq.gz	Fastqsanger.gz
	SRR8923130_2.fastq.gz	Fastqsanger.gz
	SRR8923140_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 60

Similar Datasets

Exercise Reverses Dysregulated Gene Expression in a Desmoplakin Haplo-insufficient Mouse Model of Arrhythmogenic Cardiomyopathy

Project description:Mutations in desmosome genes cause arrhyythmogenic cardiomyopathy (ACM). Using desmoplakin haploinsufficient mouse model of ACM, we evaluated the effects of treadmill exercise on cardiac myocyte transcritional profile. Strand specific, ribosome depleted paired end RNA sequencing of cardiac myocytes from wild type and Myh6-Cre:DspW/F were generate using Illumina HiSeq 4000.

2020-04-29 | GSE129962 | GEO

Single cell RNA transcriptome analysis of Epicardial Derived Cells in the Desmoplakin haplo-insufficient Arrhythmogenic Cardiomyopathy mouse

Project description:Single cell RNA transcriptome analysis of Epicardial Derived Cells in the Desmoplakin haplo-insufficient Arrhythmogenic Cardiomyopathy mouse

| PRJNA634559 | ENA

Single cell RNA transcriptome analysis of Epicardial Derived Cells in the Desmoplakin haplo-insufficient Arrhythmogenic Cardiomyopathy mouse

Project description:To delineate the role of the epicardium, the initial site of presentation of the ACM phenotype, the Dsp gene, encoding desmosome protein desmoplakin (DSP) was conditionally deleted in the mouse epicardial cells under the transcriptional regulation of Wilms tumor 1 (Wt1) locus. Single cell RNA sequencing (scRNA-Seq) of ~ 40,000 tagged epicardial-derived cells (EDCs), isolated using the dual reporter R26mT/mG mice, showed an increased number of EDCs expressing unique molecular identifiers of fibroblasts as well as a unique subset of epicardial-derived fibroblasts expressing pro-fibrotic genes in the Wt1-Cre: R26mT/mG: Dsp mice. Analysis of pseudo-bulk RNA-Seq data identified ~ 800 differentially expressed genes (DEGs), which were predominantly involved in epithelial-mesenchymal transition (EMT). The DEGs were the targets of TGFB1 among other trophic/mitotic factors, whose activation was verified by immunohistochemistry and quantification of transcript levels of selected TGBF1 pathway genes. Retro-mapping of the DEGs to the cell clusters, identified by scRNA-Seq, denoted epicardial-derived fibroblasts and to a lesser extent the epithelial cells as the main sources of paracrine factors in the myocardium of Wt1-Cre: R26mT/mG: Dsp mice.

2021-04-13 | GSE151084 | GEO

EPAS1 induction drives myocardial degeneration in Desmoplakin-cardiomyopathy [TOMO-seq]

Project description:Arrhythmogenic cardiomyopathy (ACM) is frequently attributed to desmosomal mutations, such as those in the desmoplakin (DSP) gene. Patients with DSP- cardiomyopathy are predisposed to myocardial degeneration and arrhythmias. Despite advancements, the underlying molecular mechanisms remain incompletely understood, thus limiting therapeutic options. Here, we employed spatial transcriptomics on an explanted heart from a patient with a pathogenic DSP variant. Our transcriptional analysis revealed endothelial PAS domain-containing protein 1 (EPAS1) as a potential regulator of mitochondrial homeostasis in stressed cardiomyocytes. Elevated EPAS1 levels were associated with mitochondrial dysfunction and hypoxic stress in both human-relevant in vitro ACM models and additional explanted hearts with genetic cardiomyopathy. Collectively, cardiomyocytes bearing pathogenic DSP variants exhibit mitochondrial dysfunction, increased apoptosis, and impaired contractility, which are linked to the increased EPAS1 levels. These findings implicate EPAS1 as a key regulator of myocardial degeneration in DSP-cardiomyopathy, which expand to other forms of ACM.

2025-02-15 | GSE289630 | GEO

EPAS1 induction drives myocardial degeneration in Desmoplakin-cardiomyopathy [RNA-seq]

2025-02-15 | GSE289628 | GEO

Transcriptional profiles of microglia-like progeny cells derived from Cx3cr1 haplo-insufficient HSPCs and wild-tyoe HSPCs

Project description:Favoring the engraftment and maturation of the engineered HSPCs in the central nervous system could allow enhancing further the therapeutic potential of the transplantation of engineered HSPCs for treating neurometabolic diseases. We propose a gene addition strategy involving Cx3cr1, a microglia chemokine receptor regulating microglia ontogeny and function. Here we characterize the transcriptional profile of microglia-like cell generated by Cx3cr1 haplo-insufficient and WT HSPC

2024-10-13 | GSE279132 | GEO

Genome-wide omparism of Terc deficient ntESCs

Project description:Haplo-insufficiency of telomerase genes in humans leads to telomere syndromes such as dyskeratosis congenital and idiopathic pulmonary fibrosis. Generation of pluripotent stem cells from telomerase haplo-insufficient donor cells would provide unique opportunities towards the realization of patient-specific stem cell therapies. Recently, pluripotent human embryonic stem cells (ntESCs) have been efficiently achieved by somatic cell nuclear transfer (SCNT). We tested the hypothesis that SCNT could effectively elongate shortening telomeres of telomerase haplo-insufficient cells in the ntESCs using relevant mouse models. Indeed, telomeres of telomerase haplo-insufficient (Terc+/-) mouse cells are elongated in ntESCs. Moreover, ntESCs derived from Terc+/- cells exhibit naïve pluripotency as evidenced by generation of Terc+/-ntESC clone pups by tetraploid embryo complementation (TEC), the most stringent test of naïve pluripotency. These data suggest that SCNT could offer a powerful tool to reprogram telomeres and to discover the factors for robust restoration of telomeres and pluripotency of telomerase haplo-insufficient somatic cells.

2014-11-30 | GSE62692 | GEO

Unravelling Role of miRNA-mRNA Interactome in Pathophysiology of Arrhythmogenic Cardiomyopathy [mRNA-seq]

Project description:Arrhythmogenic cardiomyopathy is an inherited entity characterized by irregular cell-cell adhesion, cardiomyocyte death, fibro-fatty replacement of ventricular myocytes, leading to malignant ventricular arrythmias, contractile dysfunction and sudden cardiac death. Pathogenic variants in genes that encode desmosome are the predominant cause of arrhythmogenic cardiomyopathy. Moreover, signalling pathways such as Wnt/ß-catenin and transforming growth factor-β have been involved in the disease progression. However, still little is known about the molecular pathophysiological mechanisms that underlie arrhythmogenic cardiomyopathy pathogenesis. We used mRNA and small RNA sequencing to analyse the transcriptome of health and arrhythmogenic cardiomyopathy autopsied human hearts. Our results showed 697 differentially expressed genes, and eight differentially expressed miRNAs. Functional enrichment revealed mitochondrial respiratory-related pathways, impaired response to oxidative stress, apoptotic signalling pathway, inflammatory response-related and extracellular matrix response pathways. Furthermore, analysis of miRNA-mRNA interactome identified eleven negatively correlated miRNA-target pairs for arrhythmogenic cardiomyopathy. Our finding revealed novel arrhythmogenic cardiomyopathy-related miRNAs with important regulatory function in disease pathogenesis highlighting their value as potential key targets for therapeutic approaches.

2024-09-30 | GSE273295 | GEO

Transcriptional profiles of microglia-like progeny cells derived from Cx3cr1 haplo-insufficient HSPCs and wild-tyoe HSPCs

Project description:Transcriptional profiles of microglia-like progeny cells derived from Cx3cr1 haplo-insufficient HSPCs and wild-tyoe HSPCs

| PRJNA1170949 | ENA

The Hippo and Canonical WNT Pathways Are Suppressed Prior to and in the Absence of Cardiac Dysfunction in Human Arrhythmogenic Cardiomyopathy Caused by Desmoplakin Truncations

Project description:The Hippo and Canonical WNT Pathways Are Suppressed Prior to and in the Absence of Cardiac Dysfunction in Human Arrhythmogenic Cardiomyopathy Caused by Desmoplakin Truncations

| PRJNA659270 | ENA

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data