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PubMed · 12037717

Splitting p63.

Hans van Bokhoven·Han G Brunner
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Abstract

Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation.

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Abnormalities, MultipleAmino Acid SequenceAnimalsCalcium-Binding ProteinsDNA-Binding ProteinsEmbryonic and Fetal DevelopmentGene Expression RegulationGenes, Tumor SuppressorGenotypeHumansIntercellular Signaling Peptides and ProteinsMembrane ProteinsMolecular Sequence DataMutationMutation, MissensePhenotypePhosphoproteinsProtein Structure, TertiarySerrate-Jagged ProteinsSmad ProteinsSyndromeTrans-ActivatorsTranscription FactorsTumor Suppressor Protein p53Tumor Suppressor ProteinsJournal ArticleResearch Support, Non-U.S. Gov'tReview

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Hans van Bokhoven, Han G Brunner. 2002-05-30. Splitting p63.. https://doi.org/10.1086/341450

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