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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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Cell Adhesion
Cleft Palate
Desmosomes
Ectodermal Dysplasia
Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Induced Pluripotent Stem Cells

Tumor Suppressor Proteins

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Open in PubMed Open full text

Identifiers

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

Genes

TP63

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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

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p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.Semantic proximity Read ↗

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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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