Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Whole-exome sequencing reveals mutational signature of hypertrophic cardiomyopathy

ABSTRACT: Hypertrophic cardiomyopathy (HCM) is an extremely insidious, lethal disease caused by genetic variation and characterized by cardiac hypertrophy. It has been studied for nearly 70 years since its discovery, but its cause of the disease remains a mystery. Here, aiming to identify pathogenic genes that causes HCM, 14 patients with HCM were collected and whole exome sequencing (WES) of peripheral blood DNA was performed.

ORGANISM(S): Homo sapiens

PROVIDER: GSE234820 | GEO | 2026/06/13

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

RNA-seq transcriptome profiling and whole exome sequencing data on Hypertrophic cardiomyopathy (HCM) patients

Project description:This study is to examine gene expression profiles in 18 HCM patients and compare them with those in 5 healthy controls. The hypothesis tested here is whether patient individual-level transcriptome data integrated with the human interactom can implicate the heterogenity of HCM phenotypes.In this study, we also analyze DNA whole-exome sequencing (WES) data from 18 patients.

2021-01-09 | GSE160997 | GEO

Human Hypertrophic Cardiomyopathy mRNA Profiling.

Project description:Cardiac biopsies were obtained from hypertrophic cardiomyopathy (HCM) patients and controls and subjected to mRNA profiling.

2024-11-12 | GSE249925 | GEO

Cardiac Organoids for Modeling Hypertrophic Cardiomyopathy

Project description:BACKGROUND: MYBPC3 is one of the most mutated gene known to cause hypertrophic cardiomyopathy (HCM). However, the molecular mechanisms of how mutations in MYBPC3 lead to the onset and progression of HCM are poorly understood. Thus, advancing in-vitro studies to define these mechanisms of mutations leading to HCM are still warranted. Thus, the primary objective of this study was to investigate the molecular mechanisms underlying the pathogenesis of HCM associated with MYBPC3 mutation utilizing isogenic human-induced pluripotent stem cell (hiPSC)-derived cardiac organoids (hCOs).

2025-01-28 | GSE262876 | GEO

Human Obstructive and Non-obstructive Hypertrophic Cardiomyopathy Disease Mechanisms

Project description:To understand the interplay between cardiomyocyte and nonmyocyte cell types in human obstructive and non-obstructive hypertrophic cardiomyopathy, single nuclei RNA-sequencing was performed on 2 unused donor hearts, 1 obstructive HCM specimen, and 6 non-obstructive HCM specimens.

2022-01-01 | GSE181764 | GEO

Mouse model for hypertrophic cardiomyopathy

Project description:Hypertrophic cardiomyopathy (HCM) caused by autosomal-dominant mutations in genes that code for the structural proteins of the sarcomere, is the most common inherited heart disease. HCM is associated with progressive myocardial hypertrophy and fibrosis, ventricular dysfunction, and arrhythmias. Disease onset during childhood and adolescence carries the risk of morbidity and sudden cardiac death. Hypoxia and the main regulator of the cellular hypoxic response hypoxia-inducible transcription factor-1a (HIF1A) have been associated with HCM, however their exact roles are not elucidated yet.

2025-01-20 | PXD038911 | Pride

miRNA expression profiles in the serum of cats with hypertrophic cardiomyopathy compared to healthy cats

Project description:MicroRNAs negatively regulate gene expression and may serve as biomarkers for human cardiomyopathy. In the domestic cat, hypertrophic cardiomyopathy (HCM) represents the most common primary cardiomyopathy. In humans, the etiology of HCM is linked to mutations in genes of contractile muscle proteins, while in cats a clear proof for causal mutations is missing. The etiology of feline HCM is uncertain. Diagnosis is made by heart ultrasound examination and measuring the serum level of N-terminal pro B-type natriuretic peptide. The purpose of this study was to investigate whether microRNA profiles in the serum of cats with HCM are different from the profiles of healthy cats and whether specific miRNAs can be detected to serve as potential biomarkers for feline HCM or may help in understanding the etiology of this disease Blood was drawn from two groups of cats: 12 healthy cats and 11 cats suffering from hypertrophic cardiomyopathy. After clotting, samples were centrifuged and total mRNA was extracted from serum. These 23 serum samples were analyzed and the groups were compared

2015-07-22 | E-GEOD-49427 | biostudies-arrayexpress

Comprehensive Plasma Proteomics Profiling of Hypertrophic Cardiomyopathy

Project description:The project was designed to identify plasma protein biomarkers of hypertrophic cardiomyopathy (HCM) and to specify signaling pathways.

2025-03-20 | PXD060680 | Pride

Human iPSC-derived cardiomyocyte from a patient with dilated phase of hypertrophic cardiomyopathy

Project description:Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by ventricular wall hypertrophy and diastolic dysfunction. Most patients with HCM are often a slowly progressive disease and may be asymptomatic; however, some progress to the dilated phase of HCM (D-HCM), and have a poorer prognosis. This study established disease-specific human induced pluripotent stem cells (iPSCs) from a patient with D-HCM harboring a truncating mutation in MYBPC3, and compared transcriptomes of iPSCs-derived cardiomyocytes between healthy control and D-HCM.

2025-04-06 | GSE263980 | GEO

Cellular Crosstalk Drives Hypertrophic Cardiomyopathy in LZTR1 Deficiency

Project description:LZTR1 deficiency causes Noonan syndrome (NS) and is associated with the manifestation of severe and early-onset hypertrophic cardiomyopathy (HCM). Although paracrine communication is thought to play a critical role in cardiac pathology, little is known about the underlying pathomechanism leading to the development of HCM and cardiac fibrosis in NS. In the present study, we used 2D and 3D iPSC models with LZTR1 deficiency to dissect the impact of non-cardiomyocytes in the development of NS-associated HCM and uncovered a cytokine-mediated intercellular crosstalk, predominantly activated in the disease state, as a major driver of cardiac hypertrophy and cardiac fibrosis.

2026-04-02 | GSE271775 | GEO

Transcriptome profiling of peripheral blood from patients with hypertrophic cardiomyopathy (HCM) compared to healthy controls

Project description:This study investigates the molecular mechanisms of hypertrophic cardiomyopathy (HCM), a common genetic heart disease where the link between cardiac remodeling and immune response is not fully understood. We aimed to identify novel diagnostic biomarkers and explore transcriptomic alterations in peripheral blood. To achieve this, bulk RNA-sequencing was performed on blood samples from 4 HCM patients and 3 healthy controls. The resulting data were analyzed using differential expression, weighted gene co-expression network analysis (WGCNA), and machine learning algorithms to identify key genes involved in HCM pathogenesis, with a focus on MEIS3 as a potential immune modulator.

2025-11-17 | E-MTAB-15843 | biostudies-arrayexpress

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