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Article

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Human molecular genetics - 15 Jan 2001

Eldadah Z A, Hamosh A, Biery N J, Montgomery R A, Duke M, Elkins R, Dietz H C

Abstract excerpt

Tetralogy of Fallot (ToF) is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live births. Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) in JAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart. Nine of eleven...

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Source

Identifiers

PMID: 11152664
DOI: 10.1093/hmg/10.2.163

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.PMID 11152664Read ↗

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Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.Semantic proximity Read ↗

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Jagged1 (JAG1): Structure, expression, and disease associations.Semantic proximity Read ↗

Genetic Origins of Tetralogy of Fallot.Semantic proximity Read ↗

Clinical genetic risk variants inform a functional protein interaction network for tetralogy of FallotSemantic proximity Read ↗

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