{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:18:14Z","timestamp":1790914694826,"version":"4.1.0"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"22","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,11,15]]},"DOI":"10.1093\/hmg\/ddp391","type":"journal-article","created":{"date-parts":[[2009,8,19]],"date-time":"2009-08-19T20:14:29Z","timestamp":1250712869000},"page":"4357-4366","source":"Crossref","is-referenced-by-count":126,"title":["ALX4 dysfunction disrupts craniofacial and epidermal development"],"prefix":"10.1093","volume":"18","author":[{"given":"Hulya","family":"Kayserili","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Uz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carien","family":"Niessen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Vargel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gokhan","family":"Tuncbilek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gokhan","family":"Yigit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oya","family":"Uyguner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukru","family":"Candan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Okur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serkan","family":"Kaygin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevim","family":"Balci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emin","family":"Mavili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Alikasifoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Haase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurten Ayse","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,8,19]]},"reference":[{"key":"key\n\t\t\t\t20170522164754_DDP391C1","volume-title":"Human Embryology and Developmental Biology","author":"Carlson","year":"1994"},{"key":"key\n\t\t\t\t20170522164754_DDP391C2","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0012-1606(92)90069-S","article-title":"Epithelial\u2013mesenchymal interactions in the outgrowth of the limb buds and facial primordial in chick embryos","volume":"54","author":"Richman","year":"1992","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20170522164754_DDP391C3","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/nature01656","article-title":"Cranial skeletal biology","volume":"423","author":"Helms","year":"2003","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522164754_DDP391C4","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/S0022-3476(70)80374-2","article-title":"Frontonasal dysplasia","volume":"76","author":"Sedano","year":"1970","journal-title":"J. Pediatr."},{"key":"key\n\t\t\t\t20170522164754_DDP391C5","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/0030-4220(88)90014-X","article-title":"Frontonasal malformation as a field defect and in syndromic associations","volume":"65","author":"Sedano","year":"1988","journal-title":"Oral. Surg. Oral. Med. Oral. Path."},{"key":"key\n\t\t\t\t20170522164754_DDP391C6","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/S0901-5027(96)80048-8","article-title":"Frontonasal dysplasia, analysis of 21 cases and literature review","volume":"25","author":"Guion-Almeida","year":"1996","journal-title":"In. J. Oral. Maxillofac. Surg."},{"key":"key\n\t\t\t\t20170522164754_DDP391C7","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/(SICI)1096-8628(19990312)83:2<109::AID-AJMG6>3.0.CO;2-8","article-title":"Acromelic frontonasal dysostosis","volume":"83","author":"Slaney","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C8","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1097\/00019605-200104000-00002","article-title":"Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies, defining the phenotype","volume":"10","author":"Guion-Almeida","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"key\n\t\t\t\t20170522164754_DDP391C9","doi-asserted-by":"crossref","first-page":"8652","DOI":"10.1073\/pnas.0402819101","article-title":"Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome","volume":"101","author":"Twigg","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522164754_DDP391C10","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1086\/421532","article-title":"Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome","volume":"74","author":"Wieland","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C11","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0301-0503(76)80013-6","article-title":"Anatomical classification facial, cranio-facial and latero-facial clefts","volume":"4","author":"Tessier","year":"1976","journal-title":"J. Maxillofac. Surg."},{"key":"key\n\t\t\t\t20170522164754_DDP391C12","first-page":"529","article-title":"The kaleidoscopic world of rare craniofacial clefts, order out of chaos (Tessier classification)","volume":"3","author":"Kawamoto","year":"1976","journal-title":"Clin. Plast. Surg."},{"key":"key\n\t\t\t\t20170522164754_DDP391C13","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1126\/science.2884728","article-title":"Homozygosity mapping, a way to map human recessive traits with the DNA of inbred children","volume":"236","author":"Lander","year":"1987","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522164754_DDP391C14","doi-asserted-by":"crossref","first-page":"3999","DOI":"10.1242\/dev.124.20.3999","article-title":"Polydactyly and ectopic ZPA formation in Alx-4 mutant mice","volume":"124","author":"Qu","year":"1997","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522164754_DDP391C15","doi-asserted-by":"crossref","first-page":"2711","DOI":"10.1242\/dev.125.14.2711","article-title":"Mutations in mouse aristaless-like4 cause Strong's luxoid polydactyly","volume":"125","author":"Qu","year":"1998","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522164754_DDP391C16","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1136\/jmg.37.12.916","article-title":"The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)","volume":"37","author":"Wuyts","year":"2000","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C17","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/83703","article-title":"Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects","volume":"27","author":"Mavrogiannis","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C18","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/sj.ejhg.5201526","article-title":"Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2, from genotype to phenotype","volume":"14","author":"Mavrogiannis","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C19","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0378-1119(97)00497-6","article-title":"Alx-4, cDNA cloning and characterization of a novel paired-type homeodomain protein","volume":"203","author":"Qu","year":"1997","journal-title":"Gene"},{"key":"key\n\t\t\t\t20170522164754_DDP391C20","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/(SICI)1097-0177(199810)213:2<159::AID-AJA1>3.0.CO;2-F","article-title":"Alx-4, a transcriptional activator whose expression is restricted to sites of epithelial\u2013mesenchymal interactions","volume":"213","author":"Hudson","year":"1998","journal-title":"Dev. Dyn."},{"key":"key\n\t\t\t\t20170522164754_DDP391C21","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1074\/jbc.M109912200","article-title":"Alx4 binding to LEF-1 regulates N-CAM promoter activity","volume":"277","author":"Boras","year":"2002","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522164754_DDP391C22","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/ajmg.1320250613","article-title":"Frontonasal \u2018dysplasia,\u2019 cerebral anomalies, and polydactyly, report of a new syndrome and discussion from a developmental field perspective","volume":"2","author":"Toriello","year":"1986","journal-title":"Am. J. Med. Genet. Suppl."},{"key":"key\n\t\t\t\t20170522164754_DDP391C23","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/ajmg.1320260421","article-title":"Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps","volume":"26","author":"Pai","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C24","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00019605-199807000-00001","article-title":"Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects, a report of six cases","volume":"7","author":"Lees","year":"1998","journal-title":"Clin. Dysmorphol."},{"key":"key\n\t\t\t\t20170522164754_DDP391C25","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1097\/00019605-200009010-00012","article-title":"Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies, another observation","volume":"9","author":"Masuno","year":"2000","journal-title":"Clin. Dysmorph."},{"key":"key\n\t\t\t\t20170522164754_DDP391C26","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1597\/1545-1569(1997)034<0073:APMOTU>2.3.CO;2","article-title":"A peculiar malformation of the upper lip, Report of six cases","volume":"34","author":"Tange","year":"1997","journal-title":"Cleft Palate Craniofac. J."},{"key":"key\n\t\t\t\t20170522164754_DDP391C27","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1002\/ajmg.1320400226","article-title":"Noses nobody knows for real-rhiny and craniorhiny","volume":"40","author":"Mindikoglu","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C28","doi-asserted-by":"crossref","first-page":"3290","DOI":"10.1002\/ajmg.a.32026","article-title":"Two siblings with an unusual nasal malformation, Further instances of craniorhiny?","volume":"143A","author":"Lees","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170522164754_DDP391C29","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/ajmg.a.30091","article-title":"Familial acromelic frontonasal dysostosis, autosomal dominant inheritance with reduced penetrance","volume":"128A","author":"Hing","year":"2004","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170522164754_DDP391C30","first-page":"1836","article-title":"Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation","volume":"25","author":"Valente","year":"2004","journal-title":"Am. J. Neuroradiol."},{"key":"key\n\t\t\t\t20170522164754_DDP391C31","first-page":"651","article-title":"Vertebrate aristaless-related genes","volume":"43","author":"Meijlink","year":"1999","journal-title":"Int. J. Dev. Biol."},{"key":"key\n\t\t\t\t20170522164754_DDP391C32","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/0092-8674(94)90292-5","article-title":"Homeodomain-DNA recognition","volume":"78","author":"Gehring","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522164754_DDP391C33","doi-asserted-by":"crossref","first-page":"32325","DOI":"10.1074\/jbc.274.45.32325","article-title":"Site-specific heterodimerization by paired class homeodomain proteins mediates selective transcriptional responses","volume":"274","author":"Tucker","year":"1999","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522164754_DDP391C34","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1101\/gad.7.11.2120","article-title":"Cooperative dimerization of paired class homeodomains on DNA","volume":"7","author":"Wilson","year":"1993","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522164754_DDP391C35","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s00439-004-1252-1","article-title":"Homeodomain revisited. A lesson from disease-causing mutations","volume":"116","author":"Chi","year":"2005","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C36","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1093\/hmg\/9.7.1067","article-title":"LMX1B transactivation and expression in nail\u2013patella syndrome. LMX1B transactivation and expression in nail\u2013patella syndrome","volume":"9","author":"Dreyer","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C37","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/jmor.1051180409","article-title":"The origin and development of alopecia in mice homozygous for Strong's luxoid gene","volume":"118","author":"Forsthoefel","year":"1966","journal-title":"J. Morph."},{"key":"key\n\t\t\t\t20170522164754_DDP391C38","doi-asserted-by":"crossref","first-page":"4417","DOI":"10.1242\/dev.125.22.4417","article-title":"The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development","volume":"125","author":"Takahashi","year":"1998","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522164754_DDP391C39","doi-asserted-by":"crossref","first-page":"3975","DOI":"10.1242\/dev.128.20.3975","article-title":"Severe nasal clefting and abnormal embryonic apoptosis in Alx3\/Alx4 double mutant mice","volume":"128","author":"Beverdam","year":"2001","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522164754_DDP391C40","doi-asserted-by":"crossref","first-page":"2917","DOI":"10.1242\/dev.00511","article-title":"Alx1, a member of the Cart1\/Alx3\/Alx4 subfamily of Paired-class homeodomain proteins, is an essential component of the gene network controlling skeletogenic fate specification in the sea urchin embryo","volume":"130","author":"Ettensohn","year":"2003","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522164754_DDP391C41","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1016\/j.ajhg.2009.04.009","article-title":"Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene","volume":"84","author":"Twigg","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522164754_DDP391C42","doi-asserted-by":"crossref","first-page":"2525","DOI":"10.1038\/sj.jid.5700865","article-title":"Tight junctions\/adherens junctions, basic structure and function","volume":"127","author":"Niessen","year":"2007","journal-title":"J. Invest. Dermatol."},{"key":"key\n\t\t\t\t20170522164754_DDP391C43","doi-asserted-by":"crossref","first-page":"5723","DOI":"10.1093\/emboj\/cdg560","article-title":"E-cadherin controls adherens junctions in the epidermis and the renewal of hair follicles","volume":"22","author":"Young","year":"2003","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170522164754_DDP391C44","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1073\/pnas.0307437100","article-title":"Conditional targeting of E-cadherin in skin, insights into hyperproliferative and degenerative responses","volume":"101","author":"Tinkle","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/18\/22\/4357\/17248110\/ddp391.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T17:08:54Z","timestamp":1633799334000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddp391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,19]]},"references-count":44,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2009,8,19]]},"published-print":{"date-parts":[[2009,11,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddp391","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2009,8,19]]}}}