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

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.

Scientific reports - 8 May 2026

Zhang Ai-Qian, Long Jie-Yi, Xue Wei, Yu Rong, Zhu Lei, Fan Liang-Liang

Abstract excerpt

Atrial septal defect (ASD) is a type of congenital heart defect characterized by the absence of atrial septal tissue. Research has shown that genetic factors play a significant role in the development of ASD. Variants in genes such as GATA binding protein 4 (GATA4), NK2 homeobox 5, and T-box transcription factor 5 have been identified in patients with ASD. In this study, we enrolled a Chinese family affected by...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to GATA4 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA4 gene

Share to Heart Septal Defects, Atrial

Share to Mutation

Share to Mutation, Missense

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42103847
DOI: 10.1038/s41598-026-52332-x
PMCID: PMC13342524

Genes

GATA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.PMID 42103847Read ↗

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.Semantic proximity Read ↗

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.Semantic proximity Read ↗

Mutation spectrum of GATA4 associated with congenital atrial septal defectsSemantic proximity Read ↗

A novel GATA-binding protein 4 gene variation associated with familial atrial septal defectSemantic proximity Read ↗

A novel mutation of GATA4 (K300T) associated with familial atrial septal defect.Semantic proximity Read ↗

Involvement of a novel GATA4 mutation in atrial septal defectsSemantic proximity Read ↗

Identification and functional study of GATA4 gene regulatory variants in atrial septal defects.Semantic proximity Read ↗

A novel mutation of GATA4 in a familial atrial septal defect.Semantic proximity Read ↗

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.Semantic proximity Read ↗

Detection and putative effect of GATA4 gene variants in patients with congenital cardiac septal defects.Semantic proximity Read ↗

[Novel GATA4 mutations identified in patients with congenital atrial septal defects].Semantic proximity Read ↗

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.Semantic proximity Read ↗

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