2012 Fiscal Year Final Research Report
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 |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Yamagata University |
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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
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| Project Period (FY) |
2010 – 2012
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| 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 |
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| 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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[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
Year and Date
20110920-24
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