| TP63 gene mutations in Chinese P63 syndrome patients. | |
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MedLine Citation:
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PMID: 20410354 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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TP63 plays an essential role in the development of epidermis and skin appendages. Mutations in TP63 can give rise to a series of syndromes characterized by various combinations of ectodermal dysplasia, limb malformations, and orofacial clefting in many populations. To test whether TP63 is the disease-causative gene for these phenotypes in Chinese, we recruited two Chinese Ectrodactyly-Ectodermal-dysplasia-Cleft lip/palate syndrome (EEC) cases and a Limb-Mammary-Syndrome (LMS) patient to carry out TP63 gene sequencing. Three missense mutation, c.812G>C (Ser271Thr), c.611G>A (Arg204Gln), and c.680G>A (Arg227Gln), which lead to the substitution of highly conserved amino acids in the DNA-binding domain of TP63, were identified. These mutations were predicted to disrupt DNA-binding specificity and affinity. To our knowledge, this is the first report of EEC and LMS syndromes in individuals of Chinese descent. Analysis of our data demonstrated that TP63 is critical for the development of ectoderm in humans. |
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Authors:
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W Yin; X Ye; L Shi; Q K Wang; H Jin; P Wang; Z Bian |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-04-21 |
Journal Detail:
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Title: Journal of dental research Volume: 89 ISSN: 1544-0591 ISO Abbreviation: J. Dent. Res. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-23 Completed Date: 2010-08-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0354343 Medline TA: J Dent Res Country: United States |
Other Details:
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Languages: eng Pagination: 813-7 Citation Subset: D; IM |
Affiliation:
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Key Laboratory for Oral Biomedical Engineering of the Ministry of Education, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, Wuhan 430079, P. R. China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Anodontia / genetics Asian Continental Ancestry Group / genetics* Breast / abnormalities* China Cleft Lip / genetics Cleft Palate / genetics* DNA Mutational Analysis Ectoderm / growth & development* Ectodermal Dysplasia / genetics* Female Humans Limb Deformities, Congenital / genetics* Male Models, Genetic Mutation, Missense Pedigree Protein Structure, Tertiary / genetics Syndrome Trans-Activators / genetics* Tumor Suppressor Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/TP63 protein, human; 0/Trans-Activators; 0/Tumor Suppressor Proteins |
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