Nishio Shin-ya

Affiliation and department：
Job title：特任講師

Research field (1)： Otorhinolaryngology

Research theme for competitive and other funds (30)：

2017 - 2020 Gene expression profiles in mice cochlear

2017 - 2019 Modeling inner ear cilliopathy using patient derived iPS cells

2016 - 2019 Development of novel clasiffication based on genetic analysis for ANSD and middle ear anormaly

2015 - 2018 Development of high throughput sequencing analysis based system for personalized medicine of deafness

2015 - 2018 Research on clinical feature and onset mechanism of deafness caused by mitochondrial DNA mutations

2014 - 2018 Genetic background among cochlear implant patients

2014 - 2017 High frequency and mid frequency hearing loss caused by KCNQ4 gene mutations

2014 - 2017 The effect of microgravity on mRNA expression in the vestibular endorgans

2014 - 2017 Genetic analysis and clinical features of auditory neuropathy spectrum disorder patients

2014 - 2017 Replication study of candidate genes associated with Age-Related Hearing Impairment in the Japanese population

2013 - 2016 Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort

2013 - 2016 Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea

2013 - 2016 Relationship of sudden sensorineural hearing loss and oxidative stress.

2013 - 2016 OTOF mutation screening in Japanese sensorineural hearing loss patients

2011 - 2013 Development of the molecular diagnostic system for congenital CMV infection

2011 - 2013 Effect of microgravity on the gene expression in the mouse vestibular organ

2011 - 2012 Functional analysis of the micro RNA in mouse inner ear.

2010 - 2012 Comprehensive genetic analysis of hearing loss using next generation sequencer.

2010 - 2011 The effects of mitchondrial DNA SNPs for age related hearing impairment

2009 - 2011 Prevalence and clinical features of hearing loss patients with CDH23 mutations.

2008 - 2010 細胞外マトリックスによる難聴に関する基礎的、臨床的研究

2008 - 2010 Expression analysis of micro-RNAs in inner ear.

2008 - 2010 Gene association study for the low tone hearing loss related diseases.

2007 - 2010 Application of genes expression analysis for diagnosis of salivary gland tumor by FNA samples with qRT-PCR.

2007 - 2009 The relationship between the gene expression profile and the type of hearing impairment.

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Papers (133)：

Naoko Sakuma, Shin-Ya Nishio, Shin-Ichi Goto, Yohei Honkura, Kiyoshi Oda, Hidehiko Takeda, Marina Kobayashi, Kozo Kumakawa, Satoshi Iwasaki, Masahiro Takahashi, et al. Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. Genes. 2024. 15. 4
Kizuki Watanabe, Shin-Ya Nishio, Shin-Ichi Usami. The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B. Scientific reports. 2024. 14. 1. 8326-8326
Jun Shinagawa, Hidekane Yoshimura, Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami. The relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation. Acta oto-laryngologica. 2023. 143. 5. 1-6
上原奈津美, 藤田岳, 横井純, 西尾信哉, 宇佐美真一, 柿木章伸, 丹生健一. 遅発性感音難聴患者における聴力型から見た遺伝学的背景の検討. 日本耳科学会総会・学術講演会抄録集. 2022. 32回. 138-138
Shin-Ichi Usami, Yuichi Isaka, Maiko Miyagawa, Shin-Ya Nishio. Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Human genetics. 2022. 141. 3-4. 903-914

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MISC (233)：

吉村豪兼, 西尾信哉, 宇佐美真一. Hereditary hearing loss and cochlear gene therapy-Current status. 医学のあゆみ. 2021. 276. 7
西尾信哉, 宇佐美真一. ゲノムデータベースと難聴遺伝子診断. 日本耳鼻咽喉科学会会報. 2021. 124. 4
大上麻由里, 大上麻由里, 大上麻由里, 大上研二, 西尾信哉, 宇佐美真一. Significance of diagnosis by genetic examination for syndromic hearing loss. Otology Japan. 2021. 31. 2
野口佳裕, 野口佳裕, 西尾信哉, 宇佐美真一. Usefulness and pitfalls of genetic testing using next-generation sequencing. Otology Japan. 2021. 31. 2
石川浩太郎, 吉村豪兼, 西尾信哉, 宇佐美真一. Usher Syndrome. Otology Japan. 2021. 31. 2

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