2010 Fiscal Year Final Research Report
Genetic analysis and research on treatment of congenital myasthenic syndromes with Dok-7 mutations (Dok-7 CMS) in Japan.
| Project/Area Number |
20591000
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Nagasaki University |
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Principal Investigator |
FUKUDA Taku Nagasaki University, 大学院・医歯薬総合研究科, 助教 (50437894)
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| Co-Investigator(Kenkyū-buntansha) |
MOTOMURA Masakatsu 長崎大学, 大学院・医歯薬総合研究課, 講師 (70244093)
EGUCHI Katsumi 佐世保市立総合病院, 院長 (30128160)
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| Co-Investigator(Renkei-kenkyūsha) |
TSUJINO Akira 長崎大学, 病院 (70423639)
HIGUCHI Osamu 東京大学, 医科学研究所腫瘍抑制分野, 准教授 (50361720)
YAMANASHI Yuji 東京大学, 医科学研究所腫瘍抑制分野, 教授 (40202387)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 遺伝子診断 / 先天性筋無力症候群 / Dok-7 / 重症筋無力症 / 神経筋接合部疾患 |
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| Research Abstract |
Dok-7 was discovered in 2006 as a key molecule in deveropement of neuromuscular junction, and overseas patients with congenital myasthenic syndrome with Dok-7 mutations (Dok-7 CMS) have been reported. Our purpose of this project is to find cases with Dok-7 CMS in Japan, to clarify the pathogenesis of Dok-7 CMS, and try to establish the new treatment of myasthenia. We have not found any cases of Dok-7 CMS and we continue to make effort to survey cases with Dok-7 CMS in Japan.
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Research Products
(15 results)
