Genetic diagnosis of microcephaly
Project/Area Number |
16K15526
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Nagoya University |
Principal Investigator |
OGI Tomoo 名古屋大学, 環境医学研究所, 教授 (80508317)
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Project Period (FY) |
2016-04-01 – 2018-03-31
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Project Status |
Completed (Fiscal Year 2017)
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Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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Keywords | 遺伝・先天異常学 / 遺伝性小頭症 |
Outline of Final Research Achievements |
Primary microcephaly is partially caused by deficiencies in DNA Damage Response system (DDR system). As prevalence of these genetic disorders are very rare and the patients usually display overlapping clinical features, we often face with difficulties in the clinical diagnosis. In this project, we aimed to develop a system helpful in the differential diagnosis of microcephaly and similar conditions. The developed system comprises next generation DNA sequencing (NGS) as well as DDR activity assays for detecting deficiencies in double strand break (DSB) repair and nucleotide excision repair (NER).
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Report
(3 results)
Research Products
(42 results)
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[Journal Article] Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.2018
Author(s)
Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann A.
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Journal Title
Journal of Medical Genetics
Volume: 55
Issue: 5
Pages: 329-343
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.2017
Author(s)
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A.
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Journal Title
Journal of Dermatology
Volume: 印刷中
Issue: 6
Pages: 644-650
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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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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[Presentation] DNA損傷応答と遺伝病疾患2016
Author(s)
荻朋男
Organizer
平成28年度若手放射線生物学研究会専門研究会
Place of Presentation
東京工業大学(東京都目黒区)
Year and Date
2016-09-03
Related Report
Invited
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