Functional analyses of the genes responsible for hereditary pigment disorders
Project/Area Number |
22591236
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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 | Yamagata University |
Principal Investigator |
SUZUKI Tamio 山形大学, 医学部, 教授 (30206502)
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Research Collaborator |
HOZUMI Yutaka 山形大学, 医学部, 技術専門員
ABE Yuko 山形大学, 大学院・医学系研究科, 院生
OKAMOTO Ken 山形大学, 大学院・医学系研究科, 院生
ARAKI Yuua 山形大学, 大学院・医学系研究科, 院生
|
Project Period (FY) |
2010 – 2012
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Project Status |
Completed (Fiscal Year 2012)
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Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2012: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
Keywords | メラニン / 色素細胞 / 遺伝子変異 / 眼皮膚白皮症 / メンブレントラフィック / 色素異常 / 遺伝性 / 白皮症 / 遺伝子診断 / 遺伝性対側性色素異常症 / 色素沈着 / 色素脱出 |
Research Abstract |
We have collected more than 100 samples ofpatientswithhereditary pigment disorders, which are rare in the world, and genetically diagnosed them. The results have been were reported. And we have investigated the pathomechanism of dyschromatosis symmetrica hereditaria (DSH), and found some interesting data showing association between virus infection and DSH.
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Report
(4 results)
Research Products
(60 results)
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[Journal Article] Oculocutaneous albinism 1 minimal pigment type : a case report on the analysis of genotype of an OCA1MP patient2012
Author(s)
Kono, M., Kondo, T., Ito, S., Suzuki, T., Wakamatsu, K, et al
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Journal Title
Br.J.Dermatol.
Volume: 166
Issue: 4
Pages: 896-898
DOI
Related Report
Peer Reviewed
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[Presentation] Albinochip: a universal genetic diagnosis for all known mutations associated to albinism2011
Author(s)
E. Molto, A. Fernandez, C. Phillips, M. Torres, O. Maronas, B. Arveiler, F. Morice-Picard, A. Taieb, R. Aquaron, V. Schiaffino, M. Hayashi, T. Suzuki, M. Martinez, M. J. Trujillo, C. Ayuso, A. Carracedo, L. Montoliu
Organizer
21st International Pigment Cell Conference
Place of Presentation
Palais des Congres of Bordeaux, Bordeaux, France
Related Report
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