| Project/Area Number |
15H06388
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Orthodontics/Pediatric dentistry
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| Research Institution | Osaka University |
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Principal Investigator |
Fujikawa Junji 大阪大学, 歯学部附属病院, 医員 (40760377)
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| Project Period (FY) |
2015-08-28 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 遺伝子 / 22q11.2欠失症候群 / 歯学 / 22q11.2 欠失症候群 / TBX1 |
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| Outline of Final Research Achievements |
22q11.2 deletion syndrome (22q11.2DS) patients exhibit severe congenital developmental abnormalities caused by small deletion of chromosome 22 chromosome long arm. Severe congenital heart defects are always observed as a phenotype but patients also suffer from immunodeficiency, hypocalcemia, and enamel hypoplasia (low tooth enamel maturation). It has been shown that TBX1 is a candidate gene for this disease. Regarding the tooth mineralization, transgenic mice those differ in the expression of TBX1 influence enamel dysplasia. However, there are conflicting observations in human case, which dentin hypercalcification is observed. Therefore, I hypothesized that there may be genes that control the development of dental hard tissue dysplasia in addition to TBX1. Here, I found possibility for genes such as Slc25a1, Dgcr2 in the deleted region of 22q11.2DS patients.
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