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

Function follows form: cardiac conduction system defects in Nkx2-5 mutation.

The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology - 1 Oct 2004

Jay Patrick Y, Harris Brett S, Buerger Antje, Rozhitskaya Olga, Maguire Colin T, Barbosky Laura A, McCusty Ellen, Berul Charles I, O'brien Terrence X, Gourdie Robert G, Izumo Seigo

Abstract excerpt

Mutations of Nkx2-5 cause congenital heart disease and atrioventricular block in man. The altered expression of an electrophysiologic protein regulated by Nkx2-5 was originally presumed to cause the conduction defect, but when no such protein was found, an alternative hypothesis was considered. In pediatric patients, the association of certain cardiac malformations with congenital atrioventricular block suggests...

Read the complete abstract on PubMed

Topics

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

Share to Connexins
Share to Gap Junction alpha-5 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Conduction System

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to Mice, Knockout

Share to Transcription Factors

Source

Identifiers

PMID: 15368343
DOI: 10.1002/ar.a.20102

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

Function follows form: cardiac conduction system defects in Nkx2-5 mutation.PMID 15368343Read ↗

Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system.Semantic proximity Read ↗

Cardiac conduction and arrhythmia: insights from Nkx2.5 mutations in mouse and humans.Semantic proximity Read ↗

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.Semantic proximity Read ↗

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerSemantic proximity Read ↗

A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels.Semantic proximity Read ↗

Congenital heart disease caused by mutations in the transcription factor NKX2-5.Semantic proximity Read ↗

Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.Semantic proximity Read ↗

Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformationSemantic proximity Read ↗

Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2‐5 expressionSemantic proximity Read ↗

Mouse Model of Human Congenital Heart Disease: Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation.Semantic proximity Read ↗

Epistatic rescue of Nkx2.5 adult cardiac conduction disease phenotypes by prospero-related homeobox protein 1 and HDAC3.Semantic proximity Read ↗

Two novel frameshift mutations in <i>NKX2.5</i> result in novel features including visceral inversus and sinus venosus type ASDSemantic proximity Read ↗

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