| Project/Area Number |
16K15254
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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 |
Experimental pathology
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| Research Institution | The University of Tokyo |
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Principal Investigator |
KURIHARA Yukiko 東京大学, 大学院医学系研究科(医学部), 講師 (80345040)
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| Co-Investigator(Renkei-kenkyūsha) |
KURIHARA Hiroki 東京大学, 大学院医学系研究科, 教授 (20221947)
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| Research Collaborator |
MASUDA Sho 東京大学, 大学院医学系研究科, 大学院生
Amiel Jeanne INSERM, Institute Imagine, Universite Paris Descartes-Sorbonne, Necker小児病院, PI
Gordon Christopher T. INSERM, Institute Imagine, Universite Paris Descartes-Sorbonne, Necker小児病院, 研究員
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | endothelin A receptor / 顎顔面異常症 / GPCR / エンドセリン受容体 / ヒト希少疾患 / ヒト遺伝子異常症 / 遺伝子異常症 / シグナル伝達 |
|---|
| Outline of Final Research Achievements |
One of the causative gene of human congenital anomaly, Mandibulofacial Dysostosis with Alopecia is a single nucleotide mutation of endothelin A receptor (ETAR). In this study, we generated the mutant mouse model and endothelin 3 (ET3) knockout mice using CRISPR/CAS and showed that the cause of MFDA was gain-of-function of mutant ETAR through ET3. The pharmacological experiments revealed that it is due to the enhancement of ligand binding affinity for ET3.
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