Discover Community Create You

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

Article

GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.

International journal of molecular medicine - 1 Nov 2014

Xu Lei, Zhao Lan, Yuan Fang, Jiang Wei-Feng, Liu Hua, Li Ruo-Gu, Xu Ying-Jia, Zhang Min, Fang Wei-Yi, Qu Xin-Kai, Yang Yi-Qing, Qiu Xing-Biao

Abstract excerpt

Dilated cardiomyopathy (DCM), the most prevalent form of primary heart muscle disease, is the third most common cause of heart failure and the most frequent reason for cardiac transplantation. Mounting evidence has demonstrated that genetic risk factors are crucial in the pathogenesis of DCM. However, DCM is genetically heterogeneous, and the genetic basis of DCM in a large majority of cases remains unclear. In...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Dilated
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA6 Transcription Factor

Share to Heterozygote

Share to Introns

Share to Mutation, Missense

Share to Sequence Alignment

Share to Transcriptional Activation

Source

Identifiers

PMID: 25119427
DOI: 10.3892/ijmm.2014.1896

Genes

GATA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.PMID 25119427Read ↗

GATA5 loss-of-function mutation in familial dilated cardiomyopathy.Semantic proximity Read ↗

A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy.Semantic proximity Read ↗

GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy.Semantic proximity Read ↗

A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis.Semantic proximity Read ↗

Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot.Semantic proximity Read ↗

Identification of functional mutations in GATA4 in patients with congenital heart disease.Semantic proximity Read ↗

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot.Semantic proximity Read ↗

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.Semantic proximity Read ↗

Identification of GATA6 sequence variants in patients with congenital heart defects.Semantic proximity Read ↗

Homozygosity Mapping and Exome Sequencing Reveal <i>GATAD1</i> Mutation in Autosomal Recessive Dilated CardiomyopathySemantic proximity Read ↗

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitisSemantic proximity Read ↗

A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.Semantic proximity Read ↗

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