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Article

Modeling AEC-New approaches to study rare genetic disorders.

American journal of medical genetics. Part A - 1 Oct 2014

Koch Peter J, Dinella Jason, Fete Mary, Siegfried Elaine C, Koster Maranke I

Abstract excerpt

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare monogenetic disorder that is characterized by severe abnormalities in ectoderm-derived tissues, such as skin and its appendages. A major cause of morbidity among affected infants is severe and chronic skin erosions. Currently, supportive care is the only available treatment option for AEC patients. Mutations in TP63, a gene that encodes...

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Identifiers

PMID: 24665072
DOI: 10.1002/ajmg.a.36455
PMCID: PMC4526214

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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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Modeling AEC-New approaches to study rare genetic disorders.PMID 24665072Read ↗

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Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.Semantic proximity Read ↗

Effects of TP63 Mutations on Keratinocyte Adhesion and MigrationSemantic proximity Read ↗

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

Effects of TP63 mutations on keratinocyte adhesion and migration.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 ↗

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-upSemantic proximity Read ↗

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.Semantic proximity Read ↗

Targeted p63 isoform switch corrects dominant mutations in AEC syndrome without disrupting epidermal homeostasisSemantic proximity Read ↗

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