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Article

Functional analysis of natural mutations in two TWIST protein motifs.

Human mutation - 1 Jun 2005

Funato Noriko, Twigg Stephen R F, Higashihori Norihisa, Ohyama Kimie, Wall Steven A, Wilkie Andrew O M, Nakamura Masataka

Abstract excerpt

The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transcription of CDKN1A (which encodes p21/WAF1/CIP1), promoting osteoblast differentiation. We have examined the...

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Source

Identifiers

PMID: 15880747
DOI: 10.1002/humu.20176

Genes

TWIST1

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.

Related research

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Research trail→

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Functional analysis of natural mutations in two TWIST protein motifs.PMID 15880747Read ↗

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

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.Semantic proximity Read ↗

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.Semantic proximity Read ↗

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

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

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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.Semantic proximity Read ↗

<i>HDAC9</i> structural variants disrupting <i>TWIST1</i> transcriptional regulation lead to craniofacial and limb malformationsSemantic proximity Read ↗

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