Role of BCOR in root formation with OFCD syndrome
| Project/Area Number |
22792038
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Orthodontic/Pediatric dentistry
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
OGAWA Takuya 東京医科歯科大学, 大学院・医歯学総合研究科, 講師 (50401360)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | OFCD 症候群 / BCOR / 歯髄・歯根膜細胞 / 歯学 / 遺伝学 / OFCD / 歯根形成 / OFCD症候群 |
|---|
| Research Abstract |
Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant hereditary trait in heterozygous females. Recently, mutations in BCOR, encoding the BCL6 corepressor, have been described to cause OFCD syndrome. In this study, we identified a novel frameshift mutation in BCOR in an OFDC patient. Analysis of nonsense-mediated mRNA decay (NMD), it was significantly increased in BCOR differential expression in OFCD periodontal (PDL) cells. A novel mutation leading to a premature termination codon may affect mRNA expression of BCOR in PDL cells.
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Report
(4 results)
Research Products
(30 results)
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[Journal Article] Dental and maxillofacial characteristics in six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting(EEC) syndrome2012
Author(s)
Okamura E, Suda N, Baba Y, Fukuoka H, Ogawa T, Ohkuma M, Ahiko N, Yasue A, Tengan T, Shiga M, Tsuji M, Moriyama K
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Journal Title
Cleft Palate Craniofac J
Volume: (印刷中)
Issue: 2
Pages: 192-200
DOI
Related Report
Peer Reviewed
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