Document Detail

p63-associated disorders.
MedLine Citation:
PMID:  17224651     Owner:  NLM     Status:  MEDLINE    
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different syndromes, of which ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome (EEC) is the most common one. Mutations in p63 can also cause non-syndromic single malformations, such as split hand foot malformation (SHFM4) and isolated cleft lip (NSCL). In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations.
Tuula Rinne; Hans G Brunner; Hans van Bokhoven
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2007-02-03
Journal Detail:
Title:  Cell cycle (Georgetown, Tex.)     Volume:  6     ISSN:  1551-4005     ISO Abbreviation:  Cell Cycle     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-02-15     Completed Date:  2007-07-16     Revised Date:  2008-09-23    
Medline Journal Info:
Nlm Unique ID:  101137841     Medline TA:  Cell Cycle     Country:  United States    
Other Details:
Languages:  eng     Pagination:  262-8     Citation Subset:  IM    
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Data Bank Information
Bank Name/Acc. No.:
OMIM/103285;  106260;  129400;  603543;  604292;  605289
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MeSH Terms
Cleft Lip / genetics,  pathology
DNA-Binding Proteins / genetics*
Ectodermal Dysplasia / genetics,  pathology
Limb Deformities, Congenital / genetics,  pathology
Trans-Activators / genetics*
Tumor Suppressor Proteins / genetics*
Reg. No./Substance:
0/DNA-Binding Proteins; 0/TP63 protein, human; 0/Trans-Activators; 0/Tumor Suppressor Proteins

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