2011 Fiscal Year Final Research Report
Study on regulatory mechanism of melanin synthesis clarified by elucidation of molecular pathology on pigmentary disorders
Project/Area Number |
21591459
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Dermatology
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Research Institution | Nagoya University |
Principal Investigator |
SAWADA Masaki 名古屋大学, 医学部附属病院, 助教 (80467315)
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Co-Investigator(Kenkyū-buntansha) |
KONO Michihiro 名古屋大学, 大学院・医学系研究科, 講師 (60319324)
MATSUMOTO Takaaki 名古屋大学, 医学部附属病院, 助教 (70508944)
SAWADA Masaki 名古屋大学, 医学部附属病院, 助教 (80467315)
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Project Period (FY) |
2009 – 2011
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Keywords | 色素細胞学 |
Research Abstract |
Eight novel mutations in ADAR1 which caused in Dyschromatosis symmetrica hereditaria were identified. Novel substrate gene of ADAR1 was tried identifying in silico by using gene database. ADAR1 p150 isoform specific knockout mice were constructed and it was investigated that the homozygous mice lead to embryonic lethality. Investigation of phenotype of the heterozygous mice was done.
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[Journal Article] Mutation analyses of patients with dyschromatosis symmetrica hereditaria : Five novel mutations of the ADAR1 gene2010
Author(s)
Ichidai Murata, Masahiro Hayashi, Yutaka Hozumi, Kazuyasu Fujii, Nozomi Kuroki, Yoshihiko Mitsuhashi, Naoki Oiso, Kazuyoshi Fukai, Yasuki Mori, Atsushi Utani, Yasushi Tomita, Yasuyuki Fujita, Tamio Suzuki.
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Journal Title
J Dermatol Sci
Volume: 58(3)
Pages: 218-220
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[Journal Article] Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria2009
Author(s)
Ichidai Murata, Yutaka Hozumi, Masakazu Kawaguchi, Yoshiyuki Katagiri, Shinichiro Yasumoto, Yoshiaki Kubo, Wataru Fujimoto, Tatsuya Horikawa, Taisuke Kondo, Michihiro Kono, Yasushi Tomita, Tamio Suzuki.
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Journal Title
J Dermatol Sci
Volume: 53(1)
Pages: 76-77
Peer Reviewed
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