ID 251
Title Transcription
センイガ サイボウ ゾウショク インシ ジュヨウタイ ノ ヘンイ ト コツケイトウ シッカン : ワカノ ヨウイチ シカ リンショウ イガク ショウレイショウ ジュショウ コウエン
Title Alternative
Mutations of Fibroblast Growth Factor Receptors and Skeletal Disorders
Author
Tanimoto, Yukiho Department of Orthodontics and Dentfacial Orthopedics, Institute of Health Biosciences, The University of Tokushima Graduate School
Keywords
線維芽細胞増殖因子受容体
先天性骨系統疾患
骨芽細胞分化
頭蓋冠縫合部早期癒合症
Content Type
Departmental Bulletin Paper
Description
Mutations of the human fibroblast growth factor receptors (FGFRs) have been identified to be the cause of a number of craniosynostosis syndromes such as Crouzon, Pfeiffer, Jackson-Weiss, Apert, Beare-Stevenson, and Muenke syndromes. The importance of FGFs/FGFR2 signaling in the cranial suture and limb bud development has been widely reported. It is postulated that FGFR2 signaling is essential for osteogenic cell differentiation and proliferation during the process of suture growth and closure because FGFR2 transcripts are expressed at the osteogenic fronts in developing calvarial bone. So, the mutation of FGFR may stimulate differentiation and/or proliferation in osteoblasts. We have recently reported an abnormal rapid mineralization of the callus during distraction osteogenesis of the deformed thumb in an Apert syndrome patient. Consistent with the previous genetic and biochemical studies, these clinical findings have raised a possibility that the S252W mutation of the FGFR2 may directly cause the unusual differentiation of the bone cells. These results provide that activation of FGFR2IIIc caused by the S252W mutation promotes osteoblast phenotype and that a soluble form of FGFR2 with S252W mutation controls osteoblast differentiation.
Journal Title
四国歯学会雑誌
ISSN
09146091
NCID
AN10050046
Volume
18
Issue
2
Start Page
187
End Page
193
Sort Key
187
Published Date
2006-01
Remark
公開日:2010年1月24日で登録したコンテンツは、国立情報学研究所において電子化したものです。
FullText File
language
jpn
Report Type
受賞講演