Investigation of treatment based on analysis between clinical phenotype and DNA repair activity of xeroderma pigmentosum
Project/Area Number |
15K19690
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Dermatology
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Research Institution | Kobe University |
Principal Investigator |
Nakano Eiji 神戸大学, 医学研究科, 助教 (80734970)
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Project Period (FY) |
2015-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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Keywords | 色素性乾皮症 / DNA修復 / 診断 / 治療 / 遺伝子型 / 表現型 |
Outline of Final Research Achievements |
Xeroderma pigmentosum is autosomal recessive hereditary disease characterized by photosensitivity and predisposing skin cancers in sun-exposed area and it is known that early diagnosis prevent skin cancers. In conventional method, there are some problems such as time-consuming, radioisotope use, skill requiring. We showed flow cytometry based assay had strong correlation with conventional method and succeed quickly diagnosing by analyzing each cell cycle. We established new assay for evaluating DNA repair and demonstrated that is applied to not only as alternative to conventional method but also as screening for candidate of treatment drug or clarifying the pathogenesis by evaluating DNA repair activity at each cell cycle.
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Report
(3 results)
Research Products
(5 results)
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[Journal Article] A ten-year follow up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole genome sequencing.2016
Author(s)
Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C.
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Journal Title
Photodermatol Photoimmunol Photomed.
Volume: 未定
Issue: 4
Pages: 174-180
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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