2015 Fiscal Year Final Research Report
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort
| Project/Area Number |
25462633
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Shinshu University |
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Principal Investigator |
NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166)
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| Co-Investigator(Kenkyū-buntansha) |
NAITO Takehiko 信州大学, 医学部附属病院, 医員 (50467164)
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| Co-Investigator(Renkei-kenkyūsha) |
USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Keywords | 難聴 / 遺伝子 / KCNQ4 |
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| Outline of Final Research Achievements |
KCNQ4, a member of the voltage-gated potassium channel family, plays a role in potassium recycling in the inner ear, and its mutation caused autosomal dominant sensorineural hearing loss. In this study we analyzed large number of Japanese hearing loss patients and revealed mutation spectrum of KCNQ4 gene.
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| Free Research Field |
分子遺伝学
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