2011 Fiscal Year Final Research Report
Molecular basis for the complex neurocristopathy PCWH and mechanisms underlying SOX10 allelic affinity
| Project/Area Number |
21390103
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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 |
Human genetics
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| Research Institution | National Center of Neurology and Psychiatry |
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Principal Investigator |
INOUE Ken 独立行政法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 (30392418)
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| Co-Investigator(Kenkyū-buntansha) |
INOUE Takayoshi 独立行政法人国立精神・神経医療研究センター, 神経研究所病態生化学研究部, 室長 (20370984)
DEGUCHI Kimiko 独立行政法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 研究生 (50227542)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 分子遺伝学 / BACトランスジェニックマウス |
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| Research Abstract |
SOX10 mutations cause either Waardenburg-Hirshcsprung disease(WS4) or Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirshcsprung disease(PCWH). We have been studying the molecular mechanisms underlying allelic affinity observed in SOX10 mutations by in vitro analyses. In this proposal, we sought to determine the cellular pathology of PCWH using BAC transgenic mice and to clarify the molecular basis for the allelic affinity in vivo.
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Research Products
(24 results)
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[Journal Article] Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations2011
Author(s)
Noguchi E, Sakamoto H, Hirota T, Ochiai K, Imoto Y, Sakashita M, Kurosaka F, Akasawa A, Yoshihara S, Kanno N, Yamada Y, Shimojo N, Kohno Y, Suzuki Y, Kang MJ, Kwon JW, Hong SJ, Inoue K, Goto Y, Yamashita F, Asada T, Hirose H, Saito I, Fujieda S, Hizawa N, Sakamoto T, Masuko H, Nakamura Y, Nomura I, Tamari M, Arinami T, Yoshida T, Saito H, Matsumoto K
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Journal Title
PLoS Genet
Volume: 7(7)
Pages: e1002170
DOI
Peer Reviewed
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[Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomalrecessive hypomyelinating leukoencephalopathy2011
Author(s)
Saitsu H, Osaka H, Sasaki M, Takanashi JI, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
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Journal Title
Am J Hum Genet
Volume: 89(5)
Pages: 644-51
DOI
Peer Reviewed
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[Journal Article] Sox10-Venus mice : a new tool for real-time labeling of neural crest lineage cells and oligodendrocytes2010
Author(s)
Shibata S, Yasuda A, Renault-Mihara F, Suyama S, Katoh H, Inoue T, Inoue, YU, Nagoshi N, Sato M, Nakamura M, Akazawa C, Okano H.
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Journal Title
Mol Brain
Volume: 3
Pages: 31
DOI
Peer Reviewed
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[Presentation] A comprehensive nation-wide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan2011
Author(s)
Inoue K, Numata Y, Ohkubo T, Arima E, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H.
Organizer
12^<th> International Congress of Human Genetics
Place of Presentation
Montreal, Canada
Year and Date
2011-10-13
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[Presentation] Sox10 BAC transgenic mouse modeling a complex neurocristopathy, PCWH2010
Author(s)
K. Inoue, N. Aoyagi-Inoue, Y. Itoh, Y. Inoue Y. Matsuda, M. Inagaki, T. Inoue, Y. Goto, S. Kohsaka, C. Akazawa
Organizer
60^<th> Annual meeting of the American Society of Human Genetics
Place of Presentation
Washington DC, USA
Year and Date
2010-11-04
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[Presentation] Modeling a complex neurocristopathy, PCWH, in a Sox10 BAC transgenic mouse2010
Author(s)
K Inoue, N Aoyagi-Inoue, Y Itoh, Y Inoue, Y Matsuda, M Inagaki, T Inoue, Y Goto, S Kohsaka, C Akazawa
Organizer
18th Biennial Meeting of the International Society for Development Neuroscience
Place of Presentation
Estoril, Portugal
Year and Date
2010-06-08
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[Presentation] Curcumin partially mitigated the phenotype of Pelizaeus-Merzbacher disease caused by PLP1 point mutations in mouse2009
Author(s)
K. Inoue, L-H. Yu, T. Morimura, H. Iwashita, R. Yamamoto, K. Deguchi, B. Antalfy, N. Inoue, H. Osaka, M. Itoh, Y. Goto
Organizer
59^<th> Annual meeting of the American Society of Human Genetics
Place of Presentation
Honolulu, HI
Year and Date
2009-10-23
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