{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:47:23Z","timestamp":1790970443522,"version":"4.1.0"},"reference-count":162,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,9,17]],"date-time":"2015-09-17T00:00:00Z","timestamp":1442448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000072","name":"NIDCR","doi-asserted-by":"crossref","award":["F31DE022696-01"],"award-info":[{"award-number":["F31DE022696-01"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"crossref","award":["DE13513"],"award-info":[{"award-number":["DE13513"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:p>Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (<jats:italic>IRF6<\/jats:italic>) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1\/700 live births). Rare variants in <jats:italic>IRF6<\/jats:italic> can lead to Van der Woude syndrome (1\/35,000 live births) and popliteal pterygium syndrome (1\/300,000 live births). Furthermore, IRF6 regulates <jats:italic>GRHL3<\/jats:italic> and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the <jats:italic>IRF6<\/jats:italic> locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP\u20102alpha binding sites. Like <jats:italic>IRF6<\/jats:italic> and <jats:italic>GRHL3<\/jats:italic>, rare variants in <jats:italic>TFAP2A<\/jats:italic> can also lead to syndromic orofacial clefting with lip pits (branchio\u2010oculo\u2010facial syndrome). The literature suggests that AP\u20102alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting. <jats:italic>Developmental Dynamics 245:220\u2013232, 2016<\/jats:italic>. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.24341","type":"journal-article","created":{"date-parts":[[2015,9,2]],"date-time":"2015-09-02T15:30:37Z","timestamp":1441207837000},"page":"220-232","source":"Crossref","is-referenced-by-count":72,"title":["Toward an orofacial gene regulatory network"],"prefix":"10.1002","volume":"245","author":[{"given":"Youssef A.","family":"Kousa","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Biology Department Michigan State University East Lansing Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian C.","family":"Schutte","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Michigan State University East Lansing Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,17]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/ajmg.a.36333","article-title":"Haploinsufficiency of interferon regulatory factor 6 alters brain morphology in the mouse","volume":"164","author":"Aerts A","year":"2013","journal-title":"Am J Med Genet A"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2010.01729.x"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.acthis.2006.10.002"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01866-07"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M503523200"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-169X.2009.01110.x"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(64)90398-6"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e3182043af6"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.272"},{"key":"e_1_2_13_12_1","first-page":"237","article-title":"Novel IRF6 mutations in Honduran Van der Woude syndrome patients","volume":"4","author":"Birkeland AC","year":"2011","journal-title":"Mol Med Report"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01146.x"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.02.009"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20740"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1986"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260223"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00427-013-0443-y"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2007.04.009"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1110931108"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2003.10.039"},{"key":"e_1_2_13_23_1","first-page":"85","article-title":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome","volume":"20","author":"Brosch S","year":"2007","journal-title":"Int J Mol Med"},{"key":"e_1_2_13_24_1","first-page":"99","article-title":"Genetic epidemiology and control of genetic expression in van der Woude syndrome","volume":"2","author":"Burdick AB.","year":"1986","journal-title":"J Craniofac Genet Dev Biol Suppl"},{"key":"e_1_2_13_25_1","first-page":"181","article-title":"Genetic analysis in families with van der Woude syndrome","volume":"5","author":"Burdick AB","year":"1985","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31447"},{"key":"e_1_2_13_27_1","first-page":"416","article-title":"The syndrome of pits of the lower lip and cleft lip and\/or palate. 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