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

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.

American journal of medical genetics. Part A - 1 Oct 2011

Esposito Giorgia, Butler Tanya L, Blue Gillian M, Cole Andrew D, Sholler Gary F, Kirk Edwin P, Grossfeld Paul, Perryman Benjamin M, Harvey Richard P, Winlaw David S

Abstract excerpt

The majority of congenital heart disease (CHD) occurs as a sporadic finding, with a minority of cases associated with a known genetic abnormality. Combinations of genetic and environmental factors are implicated, with the recent and intriguing hypothesis that an apparently high rate of somatic mutations might explain some sporadic CHD. We used samples of right ventricular myocardium from patients undergoing...

Read the complete abstract on PubMed

Topics

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

Share to Basic Helix-Loop-Helix Transcription Factors
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA4 Transcription Factor

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to Myocardium

Share to Tetralogy of Fallot

Share to Transcription Factors

Source

Identifiers

PMID: 22043484
DOI: 10.1002/ajmg.a.34187

Genes

GATA4
HAND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.PMID 22043484Read ↗

Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.Semantic proximity Read ↗

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.Semantic proximity Read ↗

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Semantic proximity Read ↗

DNA methylation status of NKX2-5, GATA4 and HAND1in patients with tetralogy of fallotSemantic proximity Read ↗

Deleterious genetic variants in <i>NOTCH1</i> are a major contributor to the incidence of non-syndromic Tetralogy of FallotSemantic proximity Read ↗

A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot.Semantic proximity Read ↗

Genetic Origins of Tetralogy of Fallot.Semantic proximity Read ↗

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.Semantic proximity Read ↗

Functionally significant, rare transcription factor variants in tetralogy of Fallot.Semantic proximity Read ↗

[Genetic screening of Gata4 and Nkx2.5 mutations in hereditary congenital heart defects: 5 familial cases].Semantic proximity Read ↗

Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.Semantic proximity Read ↗

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotSemantic proximity Read ↗

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