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Article

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

PloS one - 1 Jan 2014

Töpf Ana, Griffin Helen R, Glen Elise, Soemedi Rachel, Brown Danielle L, Hall Darroch, Rahman Thahira J, Eloranta Jyrki J, Jüngst Christoph, Stuart A Graham, O'Sullivan John, Keavney Bernard D, Goodship Judith A

Abstract excerpt

OBJECTIVE: Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). METHODS AND RESULTS: We sequenced the coding, 5'UTR, and 3'UTR regions of...

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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: 25093829
DOI: 10.1371/journal.pone.0095453
PMCID: PMC4122343

Genes

FOXC1
HAND2
FOXC2
TBX1
FOXA2
FOXH1
GATA4
ISL1
SMYD1
TBX20

Variants

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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