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Article

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Experimental dermatology - 1 Mar 2026

Salois Maddison N, Webb Saiphone, Proctor Isaiah A, Koch Peter J, Koster Maranke I

Abstract excerpt

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) is a disorder caused by autosomal-dominant mutations in the TP63 gene. AEC is characterised by the presence of severe and painful skin erosions that can take years to heal. Current treatment options for these devastating lesions are limited, highlighting the need for new therapeutic strategies. We previously generated keratinocytes from patient-derived...

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Source

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Identifiers

PMID: 41795154
DOI: 10.1111/exd.70238
PMCID: PMC12967716

Genes

TP63

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.PMID 41795154Read ↗

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DeltaNp63 knockdown mice: A mouse model for AEC syndrome.Semantic proximity Read ↗

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.Semantic proximity Read ↗

Isoform-Specific Roles of Mutant p63 in Human DiseasesSemantic proximity Read ↗

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.Semantic proximity Read ↗

Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.Semantic proximity Read ↗

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