Art

J-GLOBAL ID：202002285114653116   Reference number：20A0497974

Management of Osteogenesis Imperfecta

骨形成不全症の管理【JST・京大機械翻訳】

Author (2)： Ralston Stuart H. (Centre for Genetics and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, United Kingdom) ,  Gaston Mark S. (Royal Hospital for Sick Children, Edinburgh, United Kingdom)
Material： Frontiers in Endocrinology (Web)
Volume： 10  Page： 924  Publication year： 2019 
JST Material Number： U7068A  ISSN： 1664-2392  Document type： Article
Article type： 文献レビュー  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Osteogenesis imperfecta (OI) i...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=20A0497974&from=J-GLOBAL&jstjournalNo=U7068A") }}

Thesaurus term： heredity ,  child ,  gene ,  physical therapist ,  mutation ,  orthopedic surgery ,  fracture(disease) ,  cell transplantation ,  *osteogenesis imperfecta ,  occupation ,  bone density ,  collagen ,  clinical trial ,  optimization ,  pathogenesis

Author keywords (5)： teriparatide (TPTD) ,  clinical trials ,  fracture ,  bisphosphonates (BP) ,  osteogenesis imperfecta (OI)

JST classification (4)： Tumors(=neoplasms)of endocrine system  (GL04000P) ,  Cell physiology in general  (EF02010S) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Gene expression  (EC02040Q)

Reference (73)：

• Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. (1979) 16:101-16. doi: 10.1136/jmg.16.2.101
• Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. (2016) 387:1657-71. doi: 10.1016/S0140-6736(15)00728-X
• Marom R, Lee YC, Grafe I, Lee B. Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. Am J Med Genet C Semin Med Genet. (2016) 172:367-83. doi: 10.1002/ajmg.c.31532
• Lindahl K, Astrom E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren O, et al. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. (2015) 23:1042-50. doi: 10.1038/ejhg.2015.81
• Li L, Zhao D, Zheng W, Wang O, Jiang Y, Xia W, et al. A novel missense mutation in P4HB causes mild osteogenesis imperfecta. Biosci Rep. (2019) 39:BSR20182118. doi: 10.1042/BSR20182118

Terms in the title (1)： 骨形成不全症