2009 Fiscal Year Final Research Report
Genotype-phenotype correlations in non-syndromic tooth agenesispatients.
| Project/Area Number |
20791568
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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 Tokyo Medical and Dental University, 大学院・医歯学総合研究科, 助教 (50401360)
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| Project Period (FY) |
2008 – 2009
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| Keywords | 先天性多数歯欠損症 / PAX9 / MSX1 / 転写因子 |
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| Research Abstract |
Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. We determined the structural and functional consequences of these paired domain missense mutations and correlated our findings with the associated dental phenotype variations. The degree of loss of DNA-binding and promoter activation correlated quite well with the severity of the tooth agenesis pattern in vivo. Our structure-based studies, which modeled DNA binding and subdomain stability, were able to predict functional consequences quite reliably.
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Research Products
(13 results)
