ArticleAmerican journal of medical genetics. Part A2013
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Preclinical Models of Rare Corneal and Ocular Surface Diseases: a Comprehensive Narrative Review.Ophthalmology and therapy · 2026Review
- ZAK kinase at the crossroads of cellular stress: functional plasticity, human pathobiology, and precision therapeutics.Frontiers in cell and developmental biology · 2026Review
- Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.Frontiers in genetics · 2022Article
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- Article
- Isoform-Specific Roles of Mutant p63 in Human Diseases.Cancers · 2021Review
- The Regulation of Growth in Developing, Homeostatic, and Regenerating Tetrapod Limbs: A Minireview.Frontiers in cell and developmental biology · 2021Review
- Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single pointPostepy dermatologii i alergologii · 2019Article
- Master regulatory role of p63 in epidermal development and disease.Cellular and molecular life sciences : CMLS · 2018Review
- Transcription factor p63 bookmarks and regulates dynamic enhancers during epidermal differentiation.EMBO reports · 2015Article
- A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment.SpringerPlus · 2015Article
- Mouse p63 variants and chondrogenesis.International journal of clinical and experimental pathology · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying the variable expressivity and incomplete penetrance of EEC is unknown. Here, we show that mice heterozygous for an allele encoding the Trp63 p.Arg318His mutation, which corresponds to the human TP63 p.Arg279His mutation found in patients with EEC, have features of human EEC. Using an allelic series, we discovered that whereas clefting and skin defects are caused by loss of Trp63 function, limb anomalies are due to gain- and/or dominant-negative effects of Trp63. Furthermore, we identify TAp63 as a strong modifier of EEC-associated phenotypes with regard to both penetrance and expressivity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.