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Article

The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity.

Cell cycle (Georgetown, Tex.) - 1 Jan 2006

Lo Iacono Marco, Di Costanzo Antonella, Calogero Raffaele A, Mansueto Gelsomina, Saviozzi Silvia, Crispi Stefania, Pollice Alessandra, La Mantia Girolama, Calabrò Viola

Abstract excerpt

p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC (ankyloblepharon, ectodermal dysplasia, clefting) syndrome (also called Hay-Wells syndrome). The location and functional effects of the mutations that underlie these...

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PMID: 16319531
DOI: 10.4161/cc.5.1.2268

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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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The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity.PMID 16319531Read ↗

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