Identification of NIID causative gene with next generation sequencer
| Project/Area Number |
24591257
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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 |
Neurology
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| Research Institution | Nagoya University |
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Principal Investigator |
SONE Jun 名古屋大学, 医学(系)研究科(研究院), 寄附講座助教 (40513750)
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| Co-Investigator(Kenkyū-buntansha) |
KOIKE Haruki 名古屋大学, 医学部附属病院, 講師 (80378174)
TANAKA Fumiaki 名古屋大学, 大学院医学系研究科, 准教授 (30378012)
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| Co-Investigator(Renkei-kenkyūsha) |
MORISHITA Shinichi 東京大学, 新領域創成科学研究科, 教授 (90292854)
SUGANO Sumio 東京大学, 新領域創成科学研究科, 教授 (60162848)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | NIID / 核内封入体 / 皮膚生検 / 次世代シークエンサー / 連鎖解析 / ゲノム解析 / 神経変性疾患 |
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| Outline of Final Research Achievements |
We studied Exome and Whole Genome sequence of 2 familial NIID pedigrees and sporadic NIID cases. We performed Linkage analysis with MERLIN software and obtained almost same result of Linkage analysis with micro satellite markers. We concluded that causative gene of NIID must be exist within this position. We did not find out NIID causative gene, however, we have to study many subjects continuously to find NIID causative gene finally. Besides, the number of sporadic NIID cases exhibiting dementia is growing recently and we include more sporadic NIID cases in our study, and report in the paper that sporadic NIID cases also diagnosed by skin biopsy.
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Report
(4 results)
Research Products
(18 results)
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[Journal Article] Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy.2014
Author(s)
Sone J, Kitagawa N, Sugawara E, Iguchi M, Nakamura R, Koike H, Iwasaki Y, Yoshida M, Takahashi T, Chiba S, Katsuno M, Tanaka F, Sobue G
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Journal Title
J Neurol Neurosurg Psychiatry
Volume: 85(3)
Issue: 3
Pages: 354-356
DOI
Related Report
Peer Reviewed
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[Presentation] Analysis of major amyotrophic lateral sclerosis genes in Japan.2014
Author(s)
Ryoichi Nakamura, Jun Sone, Naoki Atsuta, Hazuki Watanabe, Akihiro Hirakawa, Hirohisa Watanabe, Mizuki Ito, Jo Senda, Masahisa Katsuno, Fumiaki Tanaka, Yuishin Izumi, Mitsuya Morita, Kotaro Ogaki, Akira Taniguchi, Ikuko Aiba,Koichi Mizoguchi, Koichi Okamoto, Kazuko Hasegawa, Masashi Aoki, Akihiro Kawata
Organizer
64th Annual Meeting of the American Society of Human Genetics
Place of Presentation
San Diego convention center, San Diego, USA
Year and Date
2014-10-21
Related Report
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[Presentation] Clinical feature of 19 cases of Neuronal intranuclear inclusion disease diagnosed by skin biopsy.2014
Author(s)
Jun Sone, Naoyuki Kitagawa, Eriko Sugawara, Masaaki Iguchi, Tomonori Inagaki, Hajime Yoshimura, Junko Ishii, Michi Kawamoto, Keiko Mori, Kunihiko Araki, Michihito Masuda, Mari Yoshida, Yasushi Iwasaki, Fumiaki Tanaka, Gen Sobue
Organizer
XVIII International Congress of Neuropathology
Place of Presentation
Sheraton Rio Hotel, Rio De Janeiro, Brasil
Year and Date
2014-09-15
Related Report
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