文献

J-GLOBAL ID：201702244613453063   整理番号：17A0268781

軟骨無形成症および軟骨低形成症に於ける低骨密度

Low bone mineral density in achondroplasia and hypochondroplasia

著者 (8件)： Matsushita Masaki (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Kitoh Hiroshi (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Mishima Kenichi (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Kadono Izumi (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Sugiura Hiroshi (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Hasegawa Sachi (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Nishida Yoshihiro (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Ishiguro Naoki (Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan)
資料名： Pediatrics International (Web)  (Pediatrics International (Web))
巻： 58  号： 8  ページ： 705-708  発行年： 2016年 
JST資料番号： U0706A  ISSN： 1442-200X  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 背景:軟骨無形成症(ACH)および軟骨低形成症(HCH)は最...

シソーラス用語： *遺伝病 ,...
準シソーラス用語： *軟骨無形成症 ,...

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著者キーワード (5件)： achondroplasia ,  bone mineral density ,  fibroblast growth factor receptor 3 ,  hypochondroplasia ,  osteoporosis

分類 (2件)： 運動器系の診断  (GG02000M) ,  生体計測  (EL03020C)

引用文献 (22件)：

• Waller DK, Correa A, Vo TM et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am. J. Med. Genet. A 2008; 146A: 2385-9.
• Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P. A common FGFR3 gene mutation in hypochondroplasia. Hum. Mol. Genet. 1995; 4: 2097-101.
• Shiang R, Thompson LM, Zhu YZ et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78: 335-42.
• Rousseau F, Bonaventure J, Legeai-Mallet L et al.Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994; 371: 252-4.
• Su N, Sun Q, Li C, et al. Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis. Hum. Mol. Genet. 2010; 19: 1199-210.

タイトルに関連する用語 (3件)： 軟骨無形成症 ,  軟骨低形成症 ,  低骨密度