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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple / genetics
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Amino Acid Sequence
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Animals
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Calcium-Binding Proteins
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DNA-Binding Proteins / genetics
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Embryonic and Fetal Development / genetics
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Gene Expression Regulation
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Genes, Tumor Suppressor
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Genotype
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Humans
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Intercellular Signaling Peptides and Proteins
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Membrane Proteins / genetics
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Molecular Sequence Data
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Mutation*
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Mutation, Missense
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Phenotype
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Phosphoproteins / chemistry
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Phosphoproteins / genetics*
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Phosphoproteins / physiology
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Protein Structure, Tertiary
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Serrate-Jagged Proteins
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Smad Proteins
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Syndrome
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Trans-Activators / chemistry
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Trans-Activators / genetics*
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Trans-Activators / physiology
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Transcription Factors
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Tumor Suppressor Protein p53*
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Tumor Suppressor Proteins
Substances
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CKAP4 protein, human
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Calcium-Binding Proteins
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DNA-Binding Proteins
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Intercellular Signaling Peptides and Proteins
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Membrane Proteins
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Phosphoproteins
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Serrate-Jagged Proteins
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Smad Proteins
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TP63 protein, human
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Tp63 protein, rat
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Trans-Activators
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Transcription Factors
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Tumor Suppressor Protein p53
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Tumor Suppressor Proteins
Associated data
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OMIM/103285
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OMIM/106260
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OMIM/129400
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OMIM/129810
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OMIM/129830
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OMIM/149730
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OMIM/183600
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OMIM/313350
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OMIM/600095
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OMIM/603543
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OMIM/604292
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OMIM/605289