2012 Fiscal Year Final Research Report
The elucidation of mechanisms for myseterin and its susceptibility variant and development of prevention program for moyamoya disease.
Project/Area Number |
22249020
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Research Category |
Grant-in-Aid for Scientific Research (A)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Hygiene
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Research Institution | Kyoto University |
Principal Investigator |
KOIZUMI Akio 京都大学, 医学研究科, 教授 (50124574)
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Co-Investigator(Kenkyū-buntansha) |
NAGATA Kazuhiro 京都産業大学, 総合生命科学部, 教授 (50127114)
TAKASHIMA Seiji 大阪大学, 医学系研究科, 准教授 (90379272)
YAMAZAKI Satoru 独立行政法人国立循環器病研究センター, 細胞生物学部, 室長 (70348796)
|
Co-Investigator(Renkei-kenkyūsha) |
MIYAMOTO Susumu 京都大学, 医学研究科, 教授 (70239440)
HITOMI Toshiaki 京都大学, 医学研究科, 講師 (90405275)
HARADA Kouji 京都大学, 医学研究科, 准教授 (80452340)
|
Project Period (FY) |
2010 – 2012
|
Keywords | 予防医学 / 遺伝疫学 / 社会医学 / 衛生学 / 医歯薬学 |
Research Abstract |
Myetsrin R4810K variant is a specific susceptibility polymorphisms for familial moyamoya disease. In the present study, we have established iPS cells from from patients. Endothelial cells differentiated from iPS cells had a unique gene expression profile and over expression in Huvec cells inhibited cell proliferation. In the KO mouse, ablation of mysterin delays diabetic phenotype. The genetic epidemiology studies revaled that the total umbers of carriers and patinets in East Asia accounted 15million and 50,000, respectively.
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[Journal Article] Combined linkage analysis and exome sequencing identifies novel genes for familial goiter2013
Author(s)
Yan JX, Takahashi T, Ohura T, Adachi A, Takahashi I, Ogawa E, Okuda H, Kobayashi H, Hitomi T, Liu WY, Harada KH, Koizumi A
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Journal Title
J Hum Genet
Volume: (in press)
DOI
Peer Reviewed
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[Journal Article] Ablation of Rnf213 retards progression of diabetes in the Akita mouse2013
Author(s)
Kobayashi H, Yamazaki S, Takashima S, Liu W, Okuda H, Yan J, Fujii Y, Hitomi T, Harada KH, Habu T, Koizumi A
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Journal Title
Biochem Biophys Res Commun
Volume: 432(3)
Pages: 519-525
DOI
Peer Reviewed
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[Journal Article] P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated withblood pressure2013
Author(s)
Koizumi A, Kobayashi H, Liu W, Fujii Y, Senevirathna ST, Nanayakkara S, Okuda H, Hitomi T, Harada KH, Takenaka K, Watanabe T, Shimbo S
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Journal Title
Environ. Health Prev. Med
Volume: 18(2)
Pages: 121-129
DOI
Peer Reviewed
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[Journal Article] Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan2012
Author(s)
Abe K, Ikeda Y, Kurata T, Ohta Y, Manabe Y, Okamoto M, Takamatsu K, Ohta T, Takao Y, Shiro Y, Shoji M, Kamiya T, Kobayashi H, Koizumi A
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Journal Title
Eur J Neurol
Volume: 19(8)
Pages: 1070-1078
DOI
Peer Reviewed
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[Journal Article] Identification of RNF213as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development.2011
Author(s)
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim J, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A
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Journal Title
PLoS ONE
Volume: 6(7)
Pages: e22542
DOI
Peer Reviewed
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[Journal Article] Coffee, green tea, black tea and oolong tea consumption and risk of mortality from cardiovascular disease in Japanese men and women2011
Author(s)
Mineharu Y, Koizumi A, Wada Y, Iso H, Watanabe Y, Date C, Yamamoto A, Kikuchi S, Inaba Y, Toyoshima H, Kondo T, Tamakoshi A, JACC Study Group.
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Journal Title
J Epidemiol Community Health
Volume: 65(3)
Pages: 230-240
DOI
Peer Reviewed
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[Journal Article] A rare Asian founder polymorphism in Raptor may explain the high prevalence of moyamoya disease in East Asian and low prevalence in Caucasian2010
Author(s)
Liu W, Hashikata H, Inoue K, Matsuura N, Mineharu Y, Kobayashi H, Kikuta KI, Takagi Y, Hitomi T, Krischek B, Zou LP, Fang F, Herzig R, Kim JE, Kang HS, Oh CW, Tregouet DA, Hashimoto N, Koizumi A
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Journal Title
Environ. Health Prev Med
Volume: 15(2)
Pages: 94-104
DOI
Peer Reviewed
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