Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Proteomics of the stenotic (aganglionic) and dilated colon tissue in Hirschsprung disease and Hirschsprung disease-associated enterocolitis

ABSTRACT: There were two cases of children with Hirschsprung disease, as the con group (dilated segment) and the HSCR group (stenotic segment), and two cases of Hirschsprung disease-related enterocolitis, as the dilated segment was the HAEC group

ORGANISM(S): Homo Sapiens

SUBMITTER: Zebing Zheng

PROVIDER: PXD072379 | iProX | Tue Dec 23 00:00:00 GMT 2025

REPOSITORIES: iProX

ACCESS DATA

Json Xml

Similar Datasets

Dilated Cardiomyopathy

Project description:Dilated Cardiomyopathy

| PRJNA1006418 | ENA

Targeting MRTF/SRF in CAP2-dependent dilated cardiomyopathy delays disease onset

Project description:About one third of dilated cardiomyopathy (DCM) cases are caused by mutations in sarcomere or cytoskeletal proteins. Yet treating the cytoskeleton directly is not possible because drugs that bind to actin are not well tolerated. Mutations in the actin binding protein CAP2 can cause DCM and knockout mice, either whole body (CAP2 KO) or cardiomyocyte specific knockouts (CAP2 CKO), develop DCM with cardiac conduction disease. RNA-seq analysis of CAP2 KO hearts and isolated cardiomyocytes revealed over-activation of fetal genes including serum response factor (SRF) regulated genes such as Myl9 and Acta2 prior to the emergence of cardiac disease. To test if we could treat CAP2 KO mice, we synthesized and tested the SRF inhibitor CCG-1423-8u. CCG-1423-8u reduced expression of the SRF targets Myl9 and Acta2, as well as the biomarker of heart failure, NPPA. The median survival of CAP2 CKO mice was 98 days, while CCG-1423-8u treated CKO mice survived for 116 days and also maintain normal cardiac function longer. These results suggest that some forms of sudden cardiac death and cardiac conduction disease are under cytoskeletal stress and that inhibiting signaling through SRF may benefit DCM by reducing cytoskeletal stress.

2019-02-22 | GSE125603 | GEO

Dilated Cardiomyopathy in Dobermans and Boxers

Project description:This study attempts at investigating the changes in cardiac gene expression that occur in Dilated Cardiomyopathy (DCM). DCM in Dobermans and Boxers are the focus of this study. Control heart tissue as well as Pacing tissue used is from mongrel dogs. Keywords: control vs pacing vs disease; strain specific disease 3 Dobermans-DCM, 4 Boxers-DCM, 3 mongrels-control and 3 mongrels-pacing

2008-05-08 | E-GEOD-11015 | biostudies-arrayexpress

Targeting MRTF/SRF in CAP2-dependent dilated cardiomyopathy delays disease onset

Project description:Targeting MRTF/SRF in CAP2-dependent dilated cardiomyopathy delays disease onset

| PRJNA517080 | ENA

Exploratory Study on the Mechanism of Left Ventricular Function Recovery After Left Ventricular Assist Device Implantation in Pediatric Dilated Cardiomyopathy

Project description:This study investigated factors associated with left ventricular (LV) recovery in pediatric dilated cardiomyopathy (DCM) following left ventricular assist device (LVAD) implantation, using single-cell multiomics analysis. Twenty-five pediatric DCM patients who underwent bridge-to-transplant LVAD (BTT-LVAD) implantation at our institution were categorized as either recovery (R) cases, defined by successful LVAD explantation with sustained stability on medical therapy, or non-recovery (NR) cases, defined by the need for transplantation or death. Single-nucleus RNA (snRNA) sequencing and chromatin accessibility analyses were conducted on six subcases (three from each group). Candidate genes and pathways identified were further validated through histological and serological assessments in all cases. Pseudobulk analysis revealed higher expression of NPPB, MYL7, and PCDH9 in cardiomyocytes from the R group, with NPPB exhibiting the highest baseline expression and corresponding changes in chromatin accessibility. Gene Ontology analysis highlighted pathways regulating apoptosis. Serum BNP, a protein product of NPPB, was significantly elevated in the R group at the time of LVAD implantation and correlated with a higher proportion of non-apoptotic cells.

2025-12-19 | GSE285315 | GEO

Cardiomyocyte-Specific Calsyntenin-1 Overexpression in Dilated Cardiomyopathy Rats

Project description:In order to explore the underlying pathogenic role of Calsyntenin-1(CLSTN1) in dilated cardiomyopathy (DCM), we constructed cardiomyocyte-specific CLSTN1 overexpression (CLSTN1-OE) rats and a cumulative dose of 18 mg/kg doxorubicin were injected to induce DCM. Whole heart tissues from the Con-WT(n=4), Con-CLSTN1 OE(n=3), DCM-WT(n=3), and DCM-CLSTN1 OE(n=4) were collected for proteomics analysis via a QExactive mass spectrometer.

2022-05-16 | PXD033929 |

Dilated Cardiomyopathy in Dobermans and Boxers

2008-05-08 | GSE11015 | GEO

Differential expression profiles of plasma tsRNAs in children with fulminant myocarditis

Project description:We report the application of high-throughput RNA sequencing technology to examine expression profiling of plasma transfer RNA (tRNA)-derived small RNAs (tsRNAs) in children with fulminant myocarditis during acute phase (FM-A group), children with fulminant myocarditis during convalescent phase (FM-C group), and healthy volunteers (Con group). A total of 750 precisely matched tsRNAs were identified in the plasma from the three groups. We find that a total of 13 tsRNAs were differentially expressed in FM-A and CON samples, of which 11 tsRNAs were upregulated and 2 were downregulated, and 694 tsRNAs were excluded ; a total of 8 tsRNAs were differentially expressed in paired FM-C and CON samples, of which 2 tsRNAs were upregulated and 6 were downregulated and 703 tsRNAs were excluded . This study provides new ideas for future research on elucidating the mechanisms of myocarditis through regulating tsRNAs levels.

2020-12-29 | GSE163944 | GEO

Differential expression of mRNA expressed in healthy and Dobermanns affected with dilated cardiomyopathy

Project description:Dilated cardiomyopathy (DCM) affects both humans and dogs and is associated with shortened life-span and sudden death. Dobermanns have previously been described with genetic variants assoociated with disease, and in this study we wanted to study gene specific expression differences between healthy and DCM-affected individuals. Included in the cohort were nine dogs, four healthy and five clinical and pre-clinical cases. The cases were sampled shortly after death (within 30 minutes) and samples snap-frozen from different compartments of the heart. Prior to euthanization the dogs were evaluted by ultrasound, and histological evaluation of the tissues were also performed after tissue sampling for proper phenotyping. In this study tissues from the septal wall was used for mRNA-sequencing. The samples were prepared according to Illuminas protocol for library preparation (TruSeq® Stranded mRNA Library) and sequenced on an Illumina NextSeq 550. Following basecalling at Illumina BaseSpace FASTQ-files were proceessed through a pipeline of Trimmomatic, SortMeRNA, STAR, edgeR and DESeq2, with quality controlls in between at relevant steps with FastQC. No significantly differentially expressed genes could be identified with either edgeR or DESeq2, which may be due to too few samples in each group. The sequencing data was also used for visual inspection of potential splice variants associated with genetic variants identified in an other cohourt of DCM-affected Dobermanns evaluated with GWAS. A novel splice-variant identified in RNF207 causing a frame-shame shift excluding three codons, was confirmed in the present mRNA-seq data.

2023-11-16 | E-MTAB-12151 | biostudies-arrayexpress

Isogenic human pluripotent stem cell disease models reveal actin binding Rho activating protein deficiency underlies the cardiac troponin T DK210 mutation-induced familial dilated cardiomyopathy II

Project description:Different single mutations on the same sarcomeric gene often cause distinct cardiomyopathy phenotypes as dilated (DCM) or hypertrophic cardiomyopathy (HCM). The key factors involved in this disease divergence is unknown and could be key for disease intervention.We generated isogenic familial DCM and HCM disease-specific human embryonic stem cells (hESCs) carrying the cTnT-DK210 and -DE160 mutation, respectively. Whole transcriptomic RNA-sequencing was used to identify the key gene involved in the earliest disease divergence of cTnT-DK210 caused DCM and cTnT-DE160 caused HCM. Results provide insight into the new molecular mechanisms underlying familial dilated cardiomyopathy.

2021-10-01 | GSE154097 | GEO

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