| Project/Area Number |
26461541
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
Kanno Junko 東北大学, 大学病院, 講師 (30509386)
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| Co-Investigator(Kenkyū-buntansha) |
藤原 幾磨 東北大学, 医学系研究科, 教授 (10271909)
新堀 哲也 東北大学, 医学系研究科, 准教授 (40436134)
箱田 明子 東北大学, 医学系研究科, 大学院非常勤講師 (70509398)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 骨形成不全症 / COL1A1 / COL1A2 / PPIB / 骨形成不全症症 / ビスフォスフォネート治療 / エクソーム解析 |
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| Outline of Final Research Achievements |
The purpose of this study is the whole aspect elucidation of the molecular background of osteogenesis imperfecta (OI) and the establishment of a new molecular target treatment. COL1A1 and COL1A2 mutations were detected in 79% of Japanese patients with OI in this study. (Junko Kanno: Journal of Bone and Mineral Metabolism, 2017 in press). We performed exome analysis for the patients that mutation was not found continuously by COL1A1 gene, COL1A2 gene. We identified this country first PPIB variation in exome analysis to one patient. The clinical phenotype of the patient was similar to some previous reports. We are preparing for the functional analysis now.
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