Identification of the genes for skeletal dysplasia and onstruction of its diagnostic system
Project/Area Number |
18390423
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Orthopaedic surgery
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Research Institution | The Institute of Physical and Chemical Research |
Principal Investigator |
MIYAMOTO Yoshinari The Institute of Physical and Chemical Research, Laboratory for Bone and Joint diseases, visiting scientist (10345217)
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Co-Investigator(Kenkyū-buntansha) |
IKEGAWA Shiro RIKEN, Laboratory for Bone and Joint diseases, Laboratory head (30272496)
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Project Period (FY) |
2006 – 2007
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Project Status |
Completed (Fiscal Year 2007)
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Budget Amount *help |
¥15,790,000 (Direct Cost: ¥13,900,000、Indirect Cost: ¥1,890,000)
Fiscal Year 2007: ¥8,190,000 (Direct Cost: ¥6,300,000、Indirect Cost: ¥1,890,000)
Fiscal Year 2006: ¥7,600,000 (Direct Cost: ¥7,600,000)
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Keywords | genome / genetics / gene / surgery / skeletal dysplasia / 骨系統疾患 / 原因遺伝子 / 遺伝子診断 / Perthes病 / II型コラーゲン / 糖ヌクレオチド輸送体 / 糖鎖科学 / 蝸牛様骨盤異形成症 / 多発性骨端異形成症 / DTDST / 脊椎肋骨異形成症 / 毛髪軟骨低形成症 / 致死性骨格形成異常症 |
Research Abstract |
We identified the disease gene for skeletal dysplasia, and examined the mutation spectrum of the gene. The main results are as follows. 1) We made a comprehensive analysis of MED and clarified its genotype-phenotype association. 2) We discovered that DTD mutations cause an intermediate phenotype beiween atelosteogenesis type II and diastrophic dysplasia. 3) We clarified a phenotypic spectrum of sponcYlo-costal dysplasia. 4) We found novel mutations in patients with Martin disease. 5) We found novel RMPM mutations in cartilage-hair hypoplasia. 6) We discovered that SBDS is responsible for spondy lo meta physeal dysplasia, sedagafian type. 7) We discovered that SLC35D1 causes Schneckenbecken dysplasia.
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Report
(3 results)
Research Products
(15 results)
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[Journal Article] Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis incartilage and skeletal development in mouse and human.2007
Author(s)
Hiraoka S, Funuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S.
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Journal Title
Nature Med 13
Pages: 1363-1367
Related Report
Peer Reviewed
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[Presentation] GDF5 and OA-of Human and of Mouse2007
Author(s)
Ikegawa S
Organizer
8th Meeting of the International Skeletal Dysplasia Society
Place of Presentation
Gymnase de l' Athanor Place de l'Amitie entre les Peuples,Albi,France
Year and Date
2007-07-19
Related Report
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