Novel Genes of Autosomal Recessive Spinocerebellar Degeneration
| Project/Area Number |
19390241
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | Hiroshima University |
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Principal Investigator |
KAWAKAMI Hideshi Hiroshima University, 原爆放射線医科学研究所, 教授 (70253060)
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| Co-Investigator(Kenkyū-buntansha) |
MARUYAMA Hirofumi 広島大学, 原爆放射線医科学研究所, 准教授 (90304443)
MORINO Hiroyuki 広島大学, 原爆放射線医科学研究所, 助教 (10397953)
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| Project Period (FY) |
2007 – 2009
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| Project Status |
Completed (Fiscal Year 2009)
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| Budget Amount *help |
¥18,330,000 (Direct Cost: ¥14,100,000、Indirect Cost: ¥4,230,000)
Fiscal Year 2009: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2008: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2007: ¥9,360,000 (Direct Cost: ¥7,200,000、Indirect Cost: ¥2,160,000)
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| Keywords | 臨床神経分子遺伝学 / 脊髄小脳変性症 / 劣性遺伝 / SNP / 脳神経疾患 / ゲノム解析 / 遺伝学 |
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| Research Abstract |
In spinocerebeller ataxia (SCA),many causative genes for the dominant forms of SCA have been identified. On the other hand, the most gene for the recessive form of SCA still are unknown. To identify the causative genes for the recessive form of SCA, we analyzed the patient DNA by high density SNP chips, detected the homozygote regions, and sequenced the exons of the coding genes. We didn't detect the significant of the differences of the exons of the genes. We may need the research for the introns of the genes.
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Report
(4 results)
Research Products
(27 results)
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[Journal Article] Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.2009
Author(s)
Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T
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Journal Title
Nat Genet 41(12)
Pages: 1303-1307
Related Report
Peer Reviewed
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[Journal Article] Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.2009
Author(s)
Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H
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Journal Title
J Neurol Sci 284(1-2)
Pages: 69-71
NAID
Related Report
Peer Reviewed
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[Journal Article] LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.2009
Author(s)
Zabetian CP, Yamamoto M, Lopez AN, Ujike H, Mata IF, Izumi Y, Kaji R, Maruyama H, Morino H, Oda M, Hutter CM, Edwards KL, Schellenberg GD, Tsuang DW, Yearout D, Larson EB, Kawakami H.
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Journal Title
Mov Disord 24(7)
Pages: 1034-1041
Related Report
Peer Reviewed
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[Journal Article] Study Group on Ataxic Diseases (Shoji Tsuji, Osamu Onodera, Ichiro Kanazawa, Hidehiro Mizusawa, Takamichi Hattori, Gen Sobue, Mitsunori Yamada, Yoshiyuki Kuroiwa, Akira Kakizuka, Atsushi Takeda, Kazuko Hasegawa, Tatsuhiko Yuasa, Takemasa Kanda, Kunihiro YStudy Group on Ataxic Diseases (Shoji Tsuji, Osamu Onodera, Ichiro Kanazawa, Hidehiro Mizusawa, Takamichi Hattori, Gen Sobue, Mitsunori Yamada, Yoshiyuki Kuroiwa, Akira Kakizuka, Atsushi Takeda, Kazuko Hasegawa, Tatsu2008
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[Presentation] I113T変異を持つ家族性ALSの剖検例2009
Author(s)
中村聖香, 伊東秀文, 朝山真哉, 中村正孝, 西井誠, 藤田賢吾, 和手麗香, 金子鋭, 中野智, 丸山博文, 川上秀史, 日下博文
Organizer
第37回臨床神経病理懇話会
Place of Presentation
姫路
Year and Date
2009-11-07
Related Report
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[Presentation] Comprehensive Analysis of the LRRK2 Gene in Japanese Patients with Parkinson's Disease2007
Author(s)
CP. Zabetian, H Ujike, H Morino, M Yamamoto, M Oda, H Maruyama, Y Izumi, R Kaji, IF. Mata, SK. Ayres, GD. Schellenberg, EB. Larson, H Kawakami
Organizer
59th American Academy of Neurology Annual Meeting
Place of Presentation
Boston, USA
Year and Date
2007-05-05
Related Report
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