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Article

HEY2 mutations in malformed hearts.

Human mutation - 1 Jan 2006

Reamon-Buettner Stella Marie, Borlak Juergen

Abstract excerpt

The basic helix-loop-helix (bHLH) transcription factor Hey2 (gridlock) is an important determinant of mammalian heart development, but its role in human ventricular septal defects is unknown. Hey2 functions as a repressor through the bHLH domain. By direct sequencing, we analyzed the sequences encoding the bHLH domain of the human HEY2 in 52 explanted hearts of unrelated patients with complex cardiac...

Read the complete abstract on PubMed

Topics

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Share to Basic Helix-Loop-Helix Transcription Factors
Share to DNA Mutational Analysis
Share to TBX5 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Ventricular

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Share to Protein Binding

Share to Protein Structure, Tertiary

Share to Repressor Proteins

Source

Identifiers

PMID: 16329098
DOI: 10.1002/humu.9390

Genes

HEY2
GATA4
TBX5

Variants

Provenance

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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