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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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 難聴 / 遺伝子 / KCNQ4 / 聴覚医学 |
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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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Report
(3 results)
Research Products
(9 results)
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[Journal Article] Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation2013
Author(s)
aito T, Nishio SY, Iwasa Y, Yano T,Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
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Journal Title
PLoS One
Volume: 8(5)
Issue: 5
Pages: e63231-e63231
DOI
Related Report
Peer Reviewed
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