{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:47:22Z","timestamp":1790970442554,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T00:00:00Z","timestamp":1532044800000},"content-version":"vor","delay-in-days":80,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100005089","name":"Beijing Municipal Natural Science Foundation","doi-asserted-by":"publisher","award":["7182184"],"award-info":[{"award-number":["7182184"]}],"id":[{"id":"10.13039\/501100005089","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012487","name":"Interdisciplinary Medicine Seed Fund of Peking University","doi-asserted-by":"crossref","award":["BMU2017MB006"],"award-info":[{"award-number":["BMU2017MB006"]}],"id":[{"id":"10.13039\/501100012487","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,9,17]]},"DOI":"10.1093\/mutage\/gey012","type":"journal-article","created":{"date-parts":[[2018,7,7]],"date-time":"2018-07-07T05:52:15Z","timestamp":1530942735000},"page":"195-202","source":"Crossref","is-referenced-by-count":17,"title":["A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree"],"prefix":"10.1093","volume":"33","author":[{"given":"Huaxiang","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengqi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjie","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieni","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunfan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiran","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peizeng","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taowen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Yantai Stomatology Hospital, Shandong, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhonghao","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Oral Implantology, Yantai Stomatology Hospital, Shandong, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiuxiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Chen","sequence":"additional","affiliation":[{"name":"Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,7,20]]},"reference":[{"key":"key\n\t\t\t\t20180917091156_CIT0001","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/nrg2933","article-title":"Cleft lip and palate: understanding genetic and environmental influences","volume":"12","author":"Dixon","year":"2011","journal-title":"Nat. Rev. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0002","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1177\/0022034516678829","article-title":"Novel IRF6 mutations detected in orofacial cleft patients by targeted massively parallel sequencing","volume":"96","author":"Khandelwal","year":"2017","journal-title":"J. Dent. Res"},{"key":"key\n\t\t\t\t20180917091156_CIT0003","doi-asserted-by":"crossref","first-page":"14364","DOI":"10.1038\/ncomms14364","article-title":"Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity","volume":"8","author":"Yu","year":"2017","journal-title":"Nat. Commun"},{"key":"key\n\t\t\t\t20180917091156_CIT0004","doi-asserted-by":"crossref","first-page":"6414","DOI":"10.1038\/ncomms7414","article-title":"Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate","volume":"6","author":"Sun","year":"2015","journal-title":"Nat. Commun"},{"key":"key\n\t\t\t\t20180917091156_CIT0005","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/ng.333","article-title":"Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24","volume":"41","author":"Birnbaum","year":"2009","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0006","doi-asserted-by":"crossref","first-page":"4340","DOI":"10.1093\/hmg\/ddv167","article-title":"DLX4 is associated with orofacial clefting and abnormal jaw development","volume":"24","author":"Wu","year":"2015","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0007","first-page":"860","article-title":"Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate","volume":"26","author":"Tian","year":"2017","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0008","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1038\/ng1903","article-title":"Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)","volume":"38","author":"Ingraham","year":"2006","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0009","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.ajhg.2013.11.009","article-title":"Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development","volume":"94","author":"Peyrard-Janvid","year":"2014","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0010","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1534\/genetics.114.165225","article-title":"Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts","volume":"197","author":"Bureau","year":"2014","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180917091156_CIT0011","first-page":"99","article-title":"Genetic epidemiology and control of genetic expression in van der Woude syndrome","volume":"2","author":"Burdick","year":"1986","journal-title":"J. Craniofac. Genet. Dev. Biol. Suppl"},{"key":"key\n\t\t\t\t20180917091156_CIT0012","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.jpeds.2009.06.020","article-title":"A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24","volume":"155","author":"Grant","year":"2009","journal-title":"J. Pediatr"},{"key":"key\n\t\t\t\t20180917091156_CIT0013","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng.506","article-title":"Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate","volume":"42","author":"Mangold","year":"2010","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0014","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/gigascience\/gix120","article-title":"SOAPnuke: a MapReduce acceleration-supported software for integrated quality control and preprocessing of high-throughput sequencing data","volume":"7","author":"Chen","year":"2018","journal-title":"GigaScience"},{"key":"key\n\t\t\t\t20180917091156_CIT0015","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20180917091156_CIT0016","doi-asserted-by":"crossref","first-page":"W252","DOI":"10.1093\/nar\/gku340","article-title":"SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information","volume":"42","author":"Biasini","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180917091156_CIT0017","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1034\/j.1399-0004.2002.610402.x","article-title":"Gene\/environment causes of cleft lip and\/or palate","volume":"61","author":"Murray","year":"2002","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0018","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1002\/ajmg.c.31379","article-title":"Genomic approaches for studying craniofacial disorders","volume":"163C","author":"Khandelwal","year":"2013","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0019","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1601-6343.2009.01462.x","article-title":"Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics","volume":"12","author":"Weinberg","year":"2009","journal-title":"Orthod. Craniofac. Res"},{"key":"key\n\t\t\t\t20180917091156_CIT0020","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1136\/jmedgenet-2017-105110","article-title":"Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and\/or palate in genes mutated in well-known syndromes","volume":"55","author":"Basha","year":"2018","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0021","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/sj.ejhg.5201486","article-title":"Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population","volume":"13","author":"Ghassib\u00e9","year":"2005","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0022","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1038\/ng.242","article-title":"Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip","volume":"40","author":"Rahimov","year":"2008","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0023","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1056\/NEJMoa032909","article-title":"Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate","volume":"351","author":"Zucchero","year":"2004","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180917091156_CIT0024","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng.580","article-title":"A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4","volume":"42","author":"Beaty","year":"2010","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0025","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1016\/j.ajhg.2008.03.005","article-title":"TFAP2A mutations result in branchio-oculo-facial syndrome","volume":"82","author":"Milunsky","year":"2008","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0026","doi-asserted-by":"crossref","first-page":"3891","DOI":"10.1172\/JCI71946","article-title":"Periderm prevents pathological epithelial adhesions during embryogenesis","volume":"124","author":"Richardson","year":"2014","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180917091156_CIT0027","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1038\/ng1894","article-title":"Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch","volume":"38","author":"Richardson","year":"2006","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0028","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1038\/ng1903","article-title":"Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (IRF6)","volume":"38","author":"Ingraham","year":"2006","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0029","doi-asserted-by":"crossref","first-page":"2632","DOI":"10.1093\/hmg\/ddp201","article-title":"Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence","volume":"18","author":"Richardson","year":"2009","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0030","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0092-8674(00)81646-3","article-title":"Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome","volume":"99","author":"Celli","year":"1999","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180917091156_CIT0031","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/hmg\/10.3.221","article-title":"Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63","volume":"10","author":"McGrath","year":"2001","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0032","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1172\/JCI40266","article-title":"Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice","volume":"120","author":"Thomason","year":"2010","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180917091156_CIT0033","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1016\/j.cellsig.2015.03.005","article-title":"Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions","volume":"27","author":"Kwa","year":"2015","journal-title":"Cell. Signal"},{"key":"key\n\t\t\t\t20180917091156_CIT0034","doi-asserted-by":"crossref","first-page":"31077","DOI":"10.1074\/jbc.M114.589382","article-title":"Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation","volume":"289","author":"Kwa","year":"2014","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180917091156_CIT0035","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1177\/0022034517719870","article-title":"IRF6 and SPRY4 signaling interact in periderm development","volume":"96","author":"Kousa","year":"2017","journal-title":"J. Dent. Res"},{"key":"key\n\t\t\t\t20180917091156_CIT0036","doi-asserted-by":"crossref","first-page":"7129","DOI":"10.1038\/s41598-017-06310-z","article-title":"Intercellular genetic interaction between IRF6 and Twist1 during craniofacial development","volume":"7","author":"Fakhouri","year":"2017","journal-title":"Sci. Rep"},{"key":"key\n\t\t\t\t20180917091156_CIT0037","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1177\/0022034517719264","article-title":"Grainyhead-like transcription factors in craniofacial development","volume":"96","author":"Carpinelli","year":"2017","journal-title":"J. Dent. Res"},{"key":"key\n\t\t\t\t20180917091156_CIT0038","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1093\/hmg\/ddv614","article-title":"Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate","volume":"25","author":"Liu","year":"2016","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180917091156_CIT0039","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/jid.2012.269","article-title":"Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3","volume":"133","author":"de la Garza","year":"2013","journal-title":"J. Invest. Dermatol"},{"key":"key\n\t\t\t\t20180917091156_CIT0040","doi-asserted-by":"crossref","first-page":"12791","DOI":"10.1038\/srep12791","article-title":"IRF6 is the mediator of TGF\u03b23 during regulation of the epithelial mesenchymal transition and palatal fusion","volume":"5","author":"Ke","year":"2015","journal-title":"Sci. Rep"}],"container-title":["Mutagenesis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/mutage\/article-pdf\/33\/3\/195\/25741061\/gey012.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T19:50:57Z","timestamp":1589917857000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/mutage\/article\/33\/3\/195\/5056500"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":40,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,7,20]]},"published-print":{"date-parts":[[2018,9,17]]}},"URL":"https:\/\/doi.org\/10.1093\/mutage\/gey012","relation":{},"ISSN":["0267-8357","1464-3804"],"issn-type":[{"value":"0267-8357","type":"print"},{"value":"1464-3804","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,5]]},"published":{"date-parts":[[2018,5]]}}}