2009 Fiscal Year Final Research Report
Studies on the gene analysis of patients with Menkes disease and Wilson's disease
| Project/Area Number |
19591221
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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 |
Pediatrics
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| Research Institution | Teikyo University |
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Principal Investigator |
KODAMA Hiroko Teikyo University, 医学部, 教授 (00093386)
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| Co-Investigator(Kenkyū-buntansha) |
FUJISAWA Chie 帝京大学, 医学部, リサーチフェロー (10393000)
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| Project Period (FY) |
2007 – 2009
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| Keywords | Menkes病 / Wilson病 / 遺伝子解析 / プロモーター領域 |
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| Research Abstract |
The responsible gene for Menkes disease and Wilson's disease are ATP7A and ATP7B, respectively. We analyzed the gene mutations in the responsible gene in 22 patients with Menkes disease and 10 patients with Wilson disease. Mutations in coding regions of the responsible gene were identified in 3 patients with Menkes disease and 2 patients with Wilsn's disease. The gene of copper-chaperon proteins and the promoter genes of the responsible gene for the both disease were analyzed in patients with the both diseases who have no mutation in the responsible genes. A patient with Wilson's disease was suspected to have a mutation in the promoter region in the ATP7B gene.
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Research Products
(8 results)
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[Journal Article] Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) correlates with cisplatin resistance in human non-small cell lung cancer xenografts2008
Author(s)
Nakagawa T, Inoue Y, Kodama H, Yamazaki H, Kawai K, Suemizu H, Masuda R, Iwazaki M, Ymamada S, Ueyama Y, Inoue H, Nakamura M
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Journal Title
Oncol Rep. 20(2)
Pages: 265-70
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