{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:26:12Z","timestamp":1777523172159,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:00:00Z","timestamp":1141171200000},"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":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p>Craniofrontonasal syndrome (CFNS) is an X-linked disorder whose main clinical manifestations include coronal craniosynostosis and frontonasal dysplasia. Very recently, CFNS was shown to be caused by mutations in EFNB1 encoding ephrin-B1, and 20 mutations have been described. We report a Thai woman with CFNS, in whom a novel mutation was discovered: c.685_686insG, in exon 5 of EFNB1. It is the first insertion and the most 3\u2032 point mutation in EFNB1 reported to date. The mutation is expected to result in a truncated ephrin-B1 of 230 amino acids, composed of a nearly complete extracellular part of ephrin-B1 with no transmembrane and cytoplasmic domains. This truncated protein might become a soluble form of the ligand, which previously was shown to be able to bind to receptors, but fail to cluster and to activate them\u2014in other words, acting as a dominant negative protein. Nonetheless, further studies to detect the protein are needed to substantiate the hypothesis.<\/jats:p>","DOI":"10.1597\/05-014.1","type":"journal-article","created":{"date-parts":[[2006,3,8]],"date-time":"2006-03-08T13:46:00Z","timestamp":1141825560000},"page":"152-154","source":"Crossref","is-referenced-by-count":17,"title":["A Novel Mutation in EFNB1, Probably with a Dominant Negative Effect, Underlying Craniofrontonasal Syndrome"],"prefix":"10.1177","volume":"43","author":[{"given":"Vorasuk","family":"Shotelersuk","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pichit","family":"Siriwan","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Surasawadee","family":"Ausavarat","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2006,3,1]]},"reference":[{"key":"bibr1-05-014.1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7973638"},{"key":"bibr2-05-014.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(02)00096-1"},{"key":"bibr3-05-014.1","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1242\/dev.126.10.2033","volume":"126","author":"Holder N.","year":"1999","journal-title":"Development."},{"key":"bibr4-05-014.1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957936"},{"key":"bibr5-05-014.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10176"},{"key":"bibr6-05-014.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U"},{"key":"bibr7-05-014.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"bibr8-05-014.1","doi-asserted-by":"publisher","DOI":"10.1086\/421532"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/05-014.1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/05-014.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:19:57Z","timestamp":1777393197000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/05-014.1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1597\/05-014.1"],"URL":"https:\/\/doi.org\/10.1597\/05-014.1","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3]]}}}