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Article

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.

FEBS letters - 9 Mar 2001

El Ghouzzi V, Legeai-Mallet L, Benoist-Lasselin C, Lajeunie E, Renier D, Munnich A, Bonaventure J

Abstract excerpt

Saethre-Chotzen syndrome is an autosomal dominant skull disorder resulting from premature fusion of coronal sutures (craniosynostosis). It is caused by mutations in the TWIST gene encoding a basic Helix-Loop-Helix transcription factor. Here we report on the identification of a novel mutation affe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11248247
DOI: 10.1016/s0014-5793(01)02238-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11248247-2026-09-01.1. 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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Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.PMID 11248247Read ↗

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

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

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.Semantic proximity Read ↗

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

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

Functional analysis of natural mutations in two TWIST protein motifs.Semantic proximity Read ↗

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Semantic proximity Read ↗

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

Interhelical loops within the bHLH domain are determinant in maintaining TWIST1-DNA complexes.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 ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

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