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Article

Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.

Nature genetics - 1 Apr 2005

Firulli Beth A, Krawchuk Dayana, Centonze Victoria E, Vargesson Neil, Virshup David M, Conway Simon J, Cserjesi Peter, Laufer Ed, Firulli Anthony B

Abstract excerpt

Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome. The molecular mechanism underlying these phenotypes is poorly understood. We show that ectopic expres...

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Source

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Identifiers

PMID: 15735646
DOI: 10.1038/ng1525
PMCID: PMC2568820

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15735646-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.PMID 15735646Read ↗

Mutations within helix I of Twist1 result in distinct limb defects and variation of DNA binding affinities.Semantic proximity Read ↗

TWIST1 Homodimers and Heterodimers Orchestrate Lineage-Specific Differentiation.Semantic proximity Read ↗

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.Semantic proximity Read ↗

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

TWIST1 homodimers and heterodimers orchestrate lineage-specific differentiationSemantic proximity Read ↗

A bHLH code for cardiac morphogenesis.Semantic proximity Read ↗

Defective Hand1 phosphoregulation uncovers essential roles for Hand1 in limb morphogenesis.Semantic proximity Read ↗

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.Semantic proximity Read ↗

Phosphoregulation of Twist1 provides a mechanism of cell fate control.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome.Semantic proximity Read ↗

Twist1 activity thresholds define multiple functions in limb development.Semantic proximity Read ↗

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