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Article

Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.

Annals of the New York Academy of Sciences - 1 Mar 2026

Wang Yin-Lin, Lin Hua-Chieh, Chen Jung-Tsu, Chang Hsiao-Hua, Hsieh Ting-Feng, Hung Hsin-Ya, Wang Shih-Kai

Abstract excerpt

DLX3 is a homeobox transcription factor essential for multiple organogenesis processes. Mutations in DLX3 cause trichodentoosseous syndrome (TDO), characterized by curly hair, sclerotic bone, enamel, and dentin defects as well as taurodontism. Phenotypic variability in TDO has been well documented, but its pathogenesis remains poorly understood. Here, we characterized three TDO families with distinct clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41774401
DOI: 10.1111/nyas.70228

Genes

DLX3
WNT10A
DSPP
MMP20

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.PMID 41774401Read ↗

Identification of a mutation in DLX3 associated with tricho-dento- osseous (TDO) syndromeSemantic proximity Read ↗

A novel DLX3 mutation causes tricho-dento-osseous syndrome with abnormal enamel structure and formation.Semantic proximity Read ↗

DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.Semantic proximity Read ↗

Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome.Semantic proximity Read ↗

Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions.Semantic proximity Read ↗

Craniofacial variations in the tricho-dento-osseous syndrome.Semantic proximity Read ↗

DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes.Semantic proximity Read ↗

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.Semantic proximity Read ↗

Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity.Semantic proximity Read ↗

DLX3 mutation in a new family and its phenotypic variations.Semantic proximity Read ↗

Molecular Consequences of a Frameshifted DLX3 Mutant Leading to Tricho-Dento-Osseous SyndromeSemantic proximity Read ↗

Transcriptional Factor DLX3 Promotes the Gene Expression of Enamel Matrix Proteins during AmelogenesisSemantic proximity Read ↗

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