Pathological analysis of Opitz G/BBB syndrome
Project/Area Number |
16K20271
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Otorhinolaryngology
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Research Institution | Kyoto Prefectural University of Medicine |
Principal Investigator |
Nakamura Takashi 京都府立医科大学, 医学部附属病院, 研究員 (80724179)
|
Project Period (FY) |
2016-04-01 – 2018-03-31
|
Project Status |
Completed (Fiscal Year 2017)
|
Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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Keywords | 小脳顆粒細胞 / Rac1 / Mid1 / mTORC1 / Mid2 / OpitzG/BBB症候群 / 脳・神経 / Opitz G/BBB症候群 |
Outline of Final Research Achievements |
We analyzed the Rac1/3 double (conditional) knockout mice using histological and molecular biological approaches. The mice exhibit layered structural abnormality in cerebellar vermis that is similar to Opits G/BBB syndrome characterized by systemic midline malformations. In this study, we found that the actin cytoskeleton regulatory molecule Rac1 regulates Mid1-mTORC1 signaling. And we showed that Mid2 was involved in the migration of cerebellar granule neurons. Mid2 may contribute to the mediolateral difference in Rac1/3 double knockout mice, and we believe that these findings lead to elucidate the pathogenesis of Opitz G/BBB syndrome.
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Report
(3 results)
Research Products
(1 results)
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[Journal Article] Novel role of Rac-Mid1 signaling in medial cerebellar development.2017
Author(s)
Nakamura T, Ueyama T, Ninoyu Y, Sakaguchi H, Choijookhuu N, Hishikawa Y, Kiyonari H, Kohta M, Sakahara M, de Curtis I, Kohmura E, Hisa Y, Aiba A, Saito N.
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Journal Title
Development
Volume: 144
Pages: 1863-1875
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research