| http://purl.uniprot.org/citations/30251381 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30251381 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundApert syndrome is characterized by craniosynostosis and bony syndactyly of the hands and feet. The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). Clinical experience suggests increased production of saliva by Apert syndrome patients, but this has not been formally investigated. FGFR2 signaling is known to regulate branching morphogenesis of the submandibular glands (SMGs). With the Apert syndrome mouse model (Ap mouse), we investigated the role of FGFR2 in SMGs and analyzed the SMG pathology of Apert syndrome.ResultsAp mice demonstrated significantly greater SMG and sublingual gland (SMG/SLG complex) mass/body weight and percentage of parenchyma per unit area of the SMG compared with control mice. Furthermore, gene expression of Fgf1, Fgf2, Fgf3, Pdgfra, Pdgfrb, Mmp2, Bmp4, Lama5, Etv5, and Dusp6 was significantly higher in the SMG/SLG complex of Ap mice. FGF3 and BMP4 exhibited altered detection patterns. The numbers of macrophages were significantly greater in SMGs of Ap mice than in controls. Regarding functional evaluations of the salivary glands, no significant differences were observed.ConclusionsThese results suggest that the gain-of-function mutation in FGFR2 in the SMGs of Ap mice enhances branching morphogenesis. Developmental Dynamics 247:1175-1185, 2018. © 2018 Wiley Periodicals, Inc."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.org/dc/terms/identifier | "doi:10.1002/dvdy.24673"xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Kawamoto T."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Ono K."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Watanabe T."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Moriyama K."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Morita J."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Yamaji K."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Shiga M."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Nakatomi M."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/author | "Gunjigake K."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/name | "Dev Dyn"xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/pages | "1175-1185"xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/title | "Maldevelopment of the submandibular gland in a mouse model of apert syndrome."xsd:string |
| http://purl.uniprot.org/citations/30251381 | http://purl.uniprot.org/core/volume | "247"xsd:string |
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