Identification of causal genes in tooth agenesis by exome sequencing
| Project/Area Number |
24659917
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Orthodontic/Pediatric dentistry
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| Research Institution | Showa University |
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Principal Investigator |
MAKI Koutaro 昭和大学, 歯学部, 教授 (80219295)
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| Co-Investigator(Kenkyū-buntansha) |
YAMAGUCHI Tetsutaro 昭和大学, 歯学部, 准教授 (40384193)
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| Project Period (FY) |
2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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| Keywords | 先天性欠如 / 永久歯 / エクソンシーケンス / 永久歯先天性欠如 / ゲノム / Exome / 遺伝（子） |
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| Research Abstract |
Permanent tooth agenesis is among the most common developmental anomalies.Molecular studies have shown that many genes are involved in tooth morphogenesis, and many transcription factors and signaling molecules are regulating gene expression. Dominant loss-of-function mutations in MSX1, PAX9, and AXIN2 have been implicated in familial forms of non-syndromic tooth agenesis. On the other hand, Exome sequencing has proven to be an elegant genetic tool for dissecting the molecular basis of diseases and traits. Using whole-exome sequencing, we identified novel mutations in patients with tooth agenesis of lower incisors.
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Report
(2 results)
Research Products
(27 results)
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[Journal Article] Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits2012
Author(s)
Park JH, Yamaguchi T, Watanabe C, Kawaguchi A, Haneji K, Takeda M, Kim YI, Tomoyasu Y, Watanabe M, Oota H, Hanihara T, Ishida H, Maki K, Park SB, Kimura R
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Journal Title
J Hum Genet
Volume: 57
Pages: 508-514
NAID
Related Report
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[Journal Article] Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations2012
Author(s)
Lee WC, Yamaguchi T, Watanabe C, Kawaguchi A, Takeda M, Kim YI, Haga S, Tomoyasu Y, Ishida H, Maki K, Park SB, Kimura R
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Journal Title
J Hum Genet
Volume: 57
Pages: 654-659
NAID
Related Report
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[Journal Article] Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations.2012
Author(s)
Lee WC, Yamaguchi T, Watanabe C, Kawaguchi A, Takeda M, Kim YI, Haga S, Tomoyasu Y, Ishida H, Maki K, Park SB, Kimura R.
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Journal Title
J Hum Genet
Volume: 57
Pages: 654-659
NAID
Related Report
Peer Reviewed
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