{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:11:06Z","timestamp":1777522266514,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:p>Craniosynostosis is characterized by premature fusion of one or more cranial sutures and is associated with mutations in fibroblast growth factor receptor (FGFR) genes. Here we describe a novel mutation (1084+1G&gt;A) in the FGFR2 gene of a patient with isolated bicoronal synostosis. We detected two isoforms that result from the mutation and are characterized, respectively, by exon skipping and the use of a cryptic splice site. Interestingly, the alternatively spliced forms of FGFR2 appear to induce fusion of the cranial sutures suggesting that the mutation acts via a gain-of-function mechanism rather than a loss of protein functionality.<\/jats:p>","DOI":"10.1597\/10-217","type":"journal-article","created":{"date-parts":[[2011,4,28]],"date-time":"2011-04-28T00:05:21Z","timestamp":1303949121000},"page":"104-108","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of the Alternative Splicing of an\n                    <i>FGFR2<\/i>\n                    Transcript Due to a Novel 5\u2032 Splice Site Mutation (1084+1G&gt;A): Case Report"],"prefix":"10.1177","volume":"49","author":[{"given":"Ilana","family":"Traynis","sequence":"first","affiliation":[{"name":"Department of Pathology, Stanford University Medical Center, Stanford, California."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Stanford University Medical Center, Stanford, California."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phyllis","family":"Gardner","sequence":"additional","affiliation":[{"name":"Department of Medicine, Stanford University Medical Center, Stanford, California."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Schrijver","sequence":"additional","affiliation":[{"name":"Department of Pathology and Department of Pediatrics, Stanford University Medical Center, Stanford, California."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,1,1]]},"reference":[{"key":"bibr1-10-217","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.6.2411"},{"key":"bibr2-10-217","first-page":"351","volume-title":"The Metabolic Basis of Inherited Disease.","author":"Cooper D.N.","year":"1995"},{"key":"bibr3-10-217","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3282f1581a"},{"key":"bibr4-10-217","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1095"},{"key":"bibr5-10-217","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)36821-8"},{"key":"bibr6-10-217","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1990.tb07454.x"},{"key":"bibr7-10-217","doi-asserted-by":"publisher","DOI":"10.1159\/000048802"},{"key":"bibr8-10-217","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-275"},{"key":"bibr9-10-217","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-230X(08)60821-0"},{"key":"bibr10-10-217","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018507"},{"key":"bibr11-10-217","doi-asserted-by":"publisher","DOI":"10.1038\/ng0395-232"},{"key":"bibr12-10-217","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.18.12827"},{"key":"bibr13-10-217","first-page":"491","volume":"58","author":"Meyers G.A.","year":"1996","journal-title":"Am J Hum Genet."},{"key":"bibr14-10-217","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.1.246"},{"key":"bibr15-10-217","doi-asserted-by":"publisher","DOI":"10.1086\/302245"},{"key":"bibr16-10-217","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"bibr17-10-217","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(90)83018-5"},{"key":"bibr18-10-217","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"bibr19-10-217","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1994.1189"},{"key":"bibr20-10-217","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<81::AID-AJMG19>3.0.CO;2-M"},{"key":"bibr21-10-217","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.10.12.6299"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/10-217","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/10-217","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/10-217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:16:53Z","timestamp":1777393013000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/10-217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1597\/10-217"],"URL":"https:\/\/doi.org\/10.1597\/10-217","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}