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Article

Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system.

The Journal of clinical investigation - 1 Apr 2004

Jay Patrick Y, Harris Brett S, Maguire Colin T, Buerger Antje, Wakimoto Hiroko, Tanaka Makoto, Kupershmidt Sabina, Roden Dan M, Schultheiss Thomas M, O'Brien Terrence X, Gourdie Robert G, Berul Charles I, Izumo Seigo

Abstract excerpt

Heterozygous mutations of the cardiac transcription factor Nkx2-5 cause atrioventricular conduction defects in humans by unknown mechanisms. We show in KO mice that the number of cells in the cardiac conduction system is directly related to Nkx2-5 gene dosage. Null mutant embryos appear to lack t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15085192
DOI: 10.1172/JCI19846
PMCID: PMC385399

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15085192-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system.PMID 15085192Read ↗

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

Absence of Msx2 does not affect cardiac conduction or rescue conduction defects associated with Nkx2-5 mutation.Semantic proximity Read ↗

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