{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T13:07:00Z","timestamp":1788268020420,"version":"build-2803163510"},"reference-count":28,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2010,4,21]],"date-time":"2010-04-21T00:00:00Z","timestamp":1271808000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:p>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&gt;C (Ser271Thr), c.611G&gt;A (Arg204Gln), and c.680G&gt;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.<\/jats:p>","DOI":"10.1177\/0022034510366804","type":"journal-article","created":{"date-parts":[[2010,4,21]],"date-time":"2010-04-21T22:34:41Z","timestamp":1271889281000},"page":"813-817","source":"Crossref","is-referenced-by-count":19,"title":["<i>TP63<\/i>\n                    Gene Mutations in Chinese P63 Syndrome Patients"],"prefix":"10.1177","volume":"89","author":[{"given":"W.","family":"Yin","sequence":"first","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Ye","sequence":"additional","affiliation":[{"name":"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"},{"name":"Department of Genetics and Genomic Science, Ichan Medical Institute, Mount Sinai School of Medicine, New York, NY 10029, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Shi","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q.K.","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, P. R. China"},{"name":"Center for Cardiovascular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, and Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Jin","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Stomatology, the 3rd Hospital of Jingmen City, Jingmen 431800, Hubei, P. R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Bian","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,4,21]]},"reference":[{"key":"bibr1-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"bibr2-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00278.x"},{"key":"bibr3-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.377"},{"key":"bibr4-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10778"},{"key":"bibr5-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"bibr6-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01643.x"},{"key":"bibr7-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1126\/science.8023157"},{"key":"bibr8-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.e133"},{"key":"bibr9-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.799"},{"key":"bibr10-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2008.00555.x"},{"key":"bibr11-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"bibr12-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31187"},{"key":"bibr13-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1177\/154405910308200606"},{"key":"bibr14-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0602477103"},{"key":"bibr15-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600411.x"},{"key":"bibr16-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036442"},{"key":"bibr17-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"bibr18-0022034510366804","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3798"},{"key":"bibr19-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1038\/19531"},{"key":"bibr20-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00287.x"},{"key":"bibr21-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"bibr22-0022034510366804","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"bibr23-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"bibr24-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1086\/341450"},{"key":"bibr25-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1086\/302246"},{"key":"bibr26-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"bibr27-0022034510366804","doi-asserted-by":"publisher","DOI":"10.1038\/19539"},{"key":"bibr28-0022034510366804","first-page":"851","volume":"16","author":"Ye X","year":"2005","journal-title":"Int J Mol Med"}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034510366804","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0022034510366804","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034510366804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:05:54Z","timestamp":1777496754000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0022034510366804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,21]]},"references-count":28,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1177\/0022034510366804"],"URL":"https:\/\/doi.org\/10.1177\/0022034510366804","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,21]]}}}