{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T08:19:26Z","timestamp":1790065166076,"version":"4.0.1"},"reference-count":30,"publisher":"Spandidos Publications","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Ther Med"],"DOI":"10.3892\/etm.2018.6446","type":"journal-article","created":{"date-parts":[[2018,7,16]],"date-time":"2018-07-16T11:59:10Z","timestamp":1531742350000},"source":"Crossref","is-referenced-by-count":4,"title":["Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome"],"prefix":"10.3892","author":[{"given":"Zhiqiang","family":"Yan","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Lu","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, First Affiliated Hospital, Army Medical University, Chongqing 400038, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuju","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Cheng","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, First Affiliated Hospital, Army Medical University, Chongqing 400038, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijun","family":"Yuan","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, First Affiliated Hospital, Army Medical University, Chongqing 400038, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyi","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2018,7,16]]},"reference":[{"key":"key20200713114600_b1-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.otoeng.2016.05.001","article-title":"Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome","volume":"67","author":"Rosa","year":"2016","journal-title":"Acta Otorrinolaringol Esp"},{"key":"key20200713114600_b2-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"10328","DOI":"10.1038\/ncomms10328","article-title":"Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation","volume":"7","author":"Sakai","year":"2016","journal-title":"Nat Commun"},{"key":"key20200713114600_b3-etm-0-0-6446","first-page":"1","article-title":"\u2018Mandibulofacial dysostosis with microcephaly\u2019 caused by EFTUD2 mutations: Expanding the phenotype","volume":"161A","author":"Luquetti","year":"2013","journal-title":"Am J Med Genet A"},{"key":"key20200713114600_b4-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1038\/ejhg.2013.98","article-title":"Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability","volume":"22","author":"Vincent","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"key20200713114600_b5-etm-0-0-6446","article-title":"Treacher Collins syndrome: A case report","volume":"pii","author":"Mohan","year":"2013","journal-title":"BMJ Case Rep 2013"},{"key":"key20200713114600_b6-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1016\/j.biocel.2008.10.026","article-title":"Treacher Collins syndrome: Unmasking the role of Tcof1\/treacle","volume":"41","author":"Sakai","year":"2009","journal-title":"Int J Biochem Cell Biol"},{"key":"key20200713114600_b7-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/S2212-4268(11)60009-2","article-title":"Clinical spectrum of Treacher Collins syndrome","volume":"1","author":"Mehrotra","year":"2011","journal-title":"J Oral Biol Craniofac Res"},{"key":"key20200713114600_b8-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"532","DOI":"10.4103\/0976-237X.142826","article-title":"Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature","volume":"5","author":"Renju","year":"2014","journal-title":"Contemp Clin Dent"},{"key":"key20200713114600_b9-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"235","DOI":"10.5005\/jp-journals-10005-1116","article-title":"Treacher Collins syndrome: A case report and a brief review on diagnostic aids","volume":"4","author":"Shetty","year":"2011","journal-title":"Int J Clin Pediatr Dent"},{"key":"key20200713114600_b10-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1808-8694(15)31296-9","article-title":"Treacher Collins Syndrome with choanal atresia: A case report and review of disease features","volume":"71","author":"Andrade","year":"2005","journal-title":"Braz J Otorhinolaryngol"},{"key":"key20200713114600_b11-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1101\/gr.7.3.223","article-title":"Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene","volume":"7","author":"Dixon","year":"1997","journal-title":"Genome Res"},{"key":"key20200713114600_b12-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"e29574","DOI":"10.1371\/journal.pone.0029574","article-title":"Fishing the molecular bases of Treacher Collins syndrome","volume":"7","author":"Weiner","year":"2012","journal-title":"PLoS One"},{"key":"key20200713114600_b13-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1007\/s11136-014-0826-1","article-title":"Living with orofacial conditions: Psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia\/ectodermal dysplasia-a comparative study","volume":"24","author":"Geirdal","year":"2015","journal-title":"Qual Life Res"},{"key":"key20200713114600_b14-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1038\/gim.2014.12","article-title":"Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome","volume":"16","author":"Schaefer","year":"2014","journal-title":"Genet Med"},{"key":"key20200713114600_b15-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1016\/j.ajhg.2015.03.011","article-title":"Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction","volume":"96","author":"Weaver","year":"2015","journal-title":"Am J Hum Genet"},{"key":"key20200713114600_b16-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"e1006187","DOI":"10.1371\/journal.pgen.1006187","article-title":"The roles of RNA polymerase I and III subunits Polr1c and Polr1d in craniofacial development and in Zebrafish models of Treacher Collins syndrome","volume":"12","author":"Noack Watt","year":"2016","journal-title":"PLoS Genet"},{"key":"key20200713114600_b17-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1186\/1471-2350-12-125","article-title":"Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome","volume":"12","author":"Conte","year":"2011","journal-title":"BMC Med Genet"},{"key":"key20200713114600_b18-etm-0-0-6446","first-page":"130","article-title":"The Treacher Collins syndrome collaborative group","volume":"12","author":"Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome","year":"1996","journal-title":"Nat Genet"},{"key":"key20200713114600_b19-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1055\/s-0032-1320066","article-title":"Treacher Collins syndrome","volume":"26","author":"Chang","year":"2012","journal-title":"Semin Plast Surg"},{"key":"key20200713114600_b20-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"13403","DOI":"10.1073\/pnas.0603730103","article-title":"Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities","volume":"103","author":"Dixon","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20200713114600_b21-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1007\/s13353-012-0091-3","article-title":"Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome","volume":"53","author":"Marszalek-Kruk","year":"2012","journal-title":"J Appl Genet"},{"key":"key20200713114600_b22-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.gene.2003.11.027","article-title":"Another face of the Treacher Collins syndrome (TCOF1) gene: Identification of additional exons","volume":"328","author":"So","year":"2004","journal-title":"Gene"},{"key":"key20200713114600_b23-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1038\/sj.ejhg.5201029","article-title":"Parental origin of mutations in sporadic cases of Treacher Collins syndrome","volume":"11","author":"Splendore","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"key20200713114600_b24-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H","article-title":"High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes","volume":"16","author":"Splendore","year":"2000","journal-title":"Hum Mutat"},{"key":"key20200713114600_b25-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.a.33454","article-title":"Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention","volume":"152A","author":"Trainor","year":"2010","journal-title":"Am J Med Genet A"},{"key":"key20200713114600_b26-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"77","DOI":"10.2478\/bjmg-2013-0036","article-title":"A case of Treacher Collins syndrome","volume":"16","author":"Ulusal","year":"2013","journal-title":"Balkan J Med Genet"},{"key":"key20200713114600_b27-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1002\/ajmg.a.30357","article-title":"Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis","volume":"134","author":"Horiuchi","year":"2005","journal-title":"Am J Med Genet A"},{"key":"key20200713114600_b28-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1007\/s00431-012-1776-7","article-title":"Treacher Collins syndrome: Clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature","volume":"171","author":"Schlump","year":"2012","journal-title":"Eur J Pediatr"},{"key":"key20200713114600_b29-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1007\/s11136-014-0826-1","article-title":"Living with orofacial conditions: Psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia\/ectodermal dysplasia-a comparative study","volume":"24","author":"Geirdal","year":"2015","journal-title":"Qual Life Res"},{"key":"key20200713114600_b30-etm-0-0-6446","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1038\/sj.ejhg.5201260","article-title":"Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation","volume":"12","author":"Teber","year":"2004","journal-title":"Eur J Hum Genet"}],"container-title":["Experimental and Therapeutic Medicine"],"original-title":[],"deposited":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T10:46:04Z","timestamp":1594637164000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/etm.2018.6446"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,16]]},"references-count":30,"URL":"https:\/\/doi.org\/10.3892\/etm.2018.6446","relation":{},"ISSN":["1792-0981","1792-1015"],"issn-type":[{"value":"1792-0981","type":"print"},{"value":"1792-1015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,16]]}}}