{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:55:41Z","timestamp":1773791741468,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,14]],"date-time":"2013-11-14T00:00:00Z","timestamp":1384387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>The purposes of this study were to find a novel mutation of <jats:italic>FGFR2<\/jats:italic> in Korean Crouzon syndrome patients and to identify the functional consequences of this mutation. The samples consisted of 16 Crouzon patients. Peripheral venous blood was collected from the patients. <jats:italic>FGFR2<\/jats:italic> mutation screening was performed by direct PCR sequencing of all exons and part of the introns. Restriction fragment length polymorphism (RFLP) analysis was performed to confirm the novel mutation. For functional studies, we performed luciferase assay for <jats:italic>Runx2<\/jats:italic> transcriptional activity, real\u2010time PCR for the bone markers (osteocalcin and alkaline phosphatase), and Western blot for phosphorylated <jats:italic>FGFR2<\/jats:italic> and <jats:italic>ERK1\/2\u2010MAPK<\/jats:italic> protein. Among 16 patients, 10 showed <jats:italic>FGFR2<\/jats:italic> mutations that had already been reported elsewhere. A novel <jats:italic>FGFR2<\/jats:italic> mutation associated with tyrosine kinase II (TK\u2010II) domain, L617F, was found in one Crouzon syndrome patient by direct PCR sequencing. Presence of this mutation was confirmed using RFLP analysis. <jats:italic>Runx2<\/jats:italic> transcriptional activity and expression of osteocalcin and alkaline phosphatase significantly increased in L617F\u2010transfected cells compared to wild\u2010type cells. <jats:italic>FGFR2<\/jats:italic> autophosphorylation in L617F\u2010transfected cells increased in 1% serum, but <jats:italic>ERK1\/2\u2010MAPK<\/jats:italic> protein was not activated. The <jats:italic>FGFR2<\/jats:italic>\u2010L617F mutation associated with the TK domain is potentially related to premature suture closure in Crouzon syndrome patient. J. Cell. Biochem. 115: 102\u2013110, 2014. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcb.24637","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T15:27:06Z","timestamp":1375457226000},"page":"102-110","source":"Crossref","is-referenced-by-count":9,"title":["A Novel FGFR2 Mutation in Tyrosine Kinase II Domain, L617F, in Crouzon Syndrome"],"prefix":"10.1002","volume":"115","author":[{"given":"Ye\u2010Jin","family":"Suh","sequence":"first","affiliation":[{"name":"Department of Orthodontics School of Dentistry and Dental Research Institute Seoul National University Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han\u2010Sol","family":"Bae","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics School of Dentistry and Dental Research Institute, BK21 Program, Seoul National University Seoul Republic of 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