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Article

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.

The Journal of clinical investigation - 1 Jul 2000

Kasahara H, Lee B, Schott J J, Benson D W, Seidman J G, Seidman C E, Izumo S

Abstract excerpt

CSX/NKX2.5 is an evolutionarily conserved homeodomain-containing (HD-containing) transcription factor that is essential for early cardiac development. Recently, ten different heterozygous CSX/NKX2.5 mutations were found in patients with congenital heart defects that are transmitted in an autosomal dominant fashion. To determine the consequence of these mutations, we analyzed nuclear localization, DNA binding,...

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Identifiers

PMID: 10903346
DOI: 10.1172/JCI9860
PMCID: PMC314312

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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.

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