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Article

Novel Point Mutation in the Cardiac Transcription Factor CSX/NKX2.5 Associated With Congenital Heart Disease.

1 Jan 2002

Abstract excerpt

The homeobox transcription factor CSX/NKX2.5, which is a vertebrate homologue of the Drosophila gene tinman, is essential for cardiac development. It is expressed in the early cardiac mesoderm and in heart muscle lineage throughout life. Homozygous deletion of CSX/NKX2.5 causes early embryonic lethality in mice because cardiac development is arrested at the linear heart tube stage. Heterozygous mutation of human...

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PMID: 12074273
DOI: 10.1253/circj.66.561

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Novel Point Mutation in the Cardiac Transcription Factor CSX/NKX2.5 Associated With Congenital Heart Disease.PMID 12074273Read ↗

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Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases.Semantic proximity Read ↗

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Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac DeathSemantic proximity Read ↗

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