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Article

Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants.

BMC bioinformatics - 28 Jul 2012

Maia Amanda M, da Silva João Hm, Mencalha André L, Caffarena Ernesto R, Abdelhay Eliana

Abstract excerpt

BACKGROUND: Human TWIST1 is a highly conserved member of the regulatory basic helix-loop-helix (bHLH) transcription factors. TWIST1 forms homo- or heterodimers with E-box proteins, such as E2A (isoforms E12 and E47), MYOD and HAND2. Haploinsufficiency germ-line mutations of the twist1 gene in humans are the main cause of Saethre-Chotzen syndrome (SCS), which is characterized by limb abnormalities and premature...

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Source

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Identifiers

PMID: 22839202
DOI: 10.1186/1471-2105-13-184
PMCID: PMC3507644

Genes

TWIST1
HAND2

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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