2016 Fiscal Year Final Research Report
Identification of novel disease-causing gene mutations in patients with UV-sensitive syndromes
| Project/Area Number |
26461528
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Nagasaki University |
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Principal Investigator |
SHIMADA Mayuko 長崎大学, 原爆後障害医療研究所, 技術職員 (80623834)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
|
| Keywords | ヌクレオチド除去修復 / コケイン症候群 / 紫外線高感受性症候群 |
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| Outline of Final Research Achievements |
Nucleotide excision repair (NER) removes DNA lesions generated by ultraviolet irradiation. Xeroderma pigmentosum and Cockayne syndrome are the representative disorders associated with NER deficiency.
We performed DNA repair assays on potentially NER-deficient cases without definite diagnosis before, and we aimed to identify new disease responsible genes. From the screening, we found two intriguing cases.
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| Free Research Field |
DNA修復学
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