Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Scientific reports - 30 Dec 2025

Jeong Ha-Eun, Kim Kyung-Hyun, Kim Youngjun, Yu Ho-Yeong, Shin Dong Mun, Kim Oc-Hee, Kim Bong-Jo, Park Mi-Hyun, Kim Jihyun

Abstract excerpt

Whole-genome sequencing technologies have advanced, leading to an increase in uncharacterized variants with unknown functions. This study focuses on characterizing cardiomyopathy-associated genes harboring theses rare variants and uncovering their cellular contexts using single-cell transcriptomics. We investigated whole genome sequencing on 245 unrelated Korean patients with either dilated (48.2%) and...

Topics

Humans
Male
Female
Single-Cell Analysis
Transcriptome
Cardiomyopathies
Middle Aged
Gene Expression Profiling
Adult
Whole Genome Sequencing
Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

Phenotype

Cardiomyopathy, Dilated

Multiomics

Source

Open in PubMed Open full text

Identifiers

PMID: 41469780
DOI: 10.1038/s41598-025-33901-y
PMCID: PMC12852727

Genes

HP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.PMID 41469780Read ↗

High‐resolution single‐cell transcriptomic survey of cardiomyocytes from patients with hypertrophic cardiomyopathySemantic proximity Read ↗

Integration of dilated cardiomyopathy genomics with transcriptomics from the human heart implicates regulatory molecular mechanismsSemantic proximity Read ↗

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathiesSemantic proximity Read ↗

Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.Semantic proximity Read ↗

Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype.Semantic proximity Read ↗

A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.Semantic proximity Read ↗

Recent Findings Related to Cardiomyopathy and Genetics.Semantic proximity Read ↗

SnRNA-seq reveals differential functional transcriptional pathway alterations in three mutant types of dilated cardiomyopathy.Semantic proximity Read ↗

Unraveling the Genetic Drivers of Heart Failure from Cardiac Endothelial Cells via Single-Cell RNA-Sequencing Data and Machine Learning ModelSemantic proximity Read ↗

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.Semantic proximity Read ↗

Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.Semantic proximity Read ↗

Characterising Shared and Specific Cell–Cell Communication in Cardiomyopathy Subtypes From Single‐Cell Transcriptomics DataSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.