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Article

P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome.

The Journal of biological chemistry - 27 Jun 2003

Fomenkov Alexey, Huang Yi-Ping, Topaloglu Ozlem, Brechman Anna, Osada Motonobo, Fomenkova Tanya, Yuriditsky Eugene, Trink Barry, Sidransky David, Ratovitski Edward

Abstract excerpt

p63, a p53 family member, is required for craniofacial and limb development as well as proper skin differentiation. However, p63 mutations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells syndrome) were found in the p63 carboxyl-terminal region with a sterile alpha-motif. By two-hybrid screen we identified several proteins that interact with the p63alpha carboxyl...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterogeneous-Nuclear Ribonucleoprotein Group A-B

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Identifiers

PMID: 12692135
DOI: 10.1074/jbc.M300746200

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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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P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome.PMID 12692135Read ↗

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