USAMI SHINICHI 宇佐美真一

… Alternative Names

USAMI Shin-ichi 宇佐美真一

宇佐見真一ウサミシンイチ

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Researcher Number	10184996
Other IDs
External Links
Affiliation (Current)	2023: 信州大学, 医学部, 特任教授 2023: 信州大学, 先鋭領域融合研究群山岳科学研究拠点, 特任教授
Affiliation (based on the past Project Information) *help	2020 – 2021: 信州大学, 医学部, 特任教授 2015 – 2021: 信州大学, 学術研究院医学系, 教授 1999 – 2013: School of Medicine, Shinshu University, Professor, 医学部, 教授 2004: 信州大学, 農学部, 教授 1998: 弘前大学, 医学部, 助教授 … More 1993 – 1996: Hirosaki University School of Medicine Department of Otolaryngology Associate Pr, 医学部, 助教授 1992: 弘前大学, 医学部・附属病院, 講師 1991: 弘前大学, 医学部附属病院, 助手 Less
Review Section/Research Field	Principal Investigator Otorhinolaryngology / Otorhinolaryngology / Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields Except Principal Investigator Otorhinolaryngology / Basic Section 56050:Otorhinolaryngology-related / Otorhinolaryngology / Resource conservation science / 宇宙生命学 / Surgery related to the biological and sensory functions and related fields
Keywords	Principal Investigator 難聴 / 遺伝子 / 内耳 / 神経伝達物質 / NMDA / AMPA / 聴覚 / 次世代シークエンサー / 免疫組織化学 / Inner Ear … More / Immunocytochemistry / Neurotransmitter / レセプター / glutamate / glutamine / transporter / inner ear / neurotransmitter / 老人性難聴 / 加齢 / SNPs / 老人 / COL9A3 / CDH23 / SAM / thymosin beta 4 / brain factor 1 / Single minded 2 / 脳機能 / 平衡覚 / 嗅覚 / PET / fNIRS / 森林浴 / 耳科学 / 感音難聴 / 細胞外マトリソクス / アミノ酸 / Amino acid / in situ hybridization / Receptor / In Situ Hybridization / グルタミン酸 / トランスポーター / ミトコンドリア / 遺伝 / 頻度 / 点変異 / 遺伝子変異 / アミノ配糖体 / hearing loss / mitochondria / genetics / prevelance / point mutation / コネキシン26遺伝子 / PDS遺伝子 / インベーダー法 / 遺伝カウンセリング / GJB2 / PDS / KCNQ4 / COCH / KCNQ4遺伝子 / COCH遺伝子 / CX26遺伝子 / ミトコンドリア遺伝子 / DNAチップ / Cx26遺伝子 / gene / deafness / genotype / phenotype correlations / genetic testing / genetic / counseling / ゲノム / 遺伝性難聴 / 遺伝学 / 医療・福祉 / 次世代シークエンス / 標本 / 側頭骨標本 / アーカイブ / 病態解明 … More Except Principal Investigator 遺伝子 / 難聴 / 内耳 / 耳科学 / 遺伝子発現 / 聴覚 / 遺伝性難聴 / 遺伝子発現パターン / レーザーマイクロダイセクション / マウス / SNPs / 聴覚医学 / ゲノム / 細胞外マトリクス / 感音難聴 / 細胞外マトリックス / 蓋膜 / コラーゲン / 老人性難聴 / ペンドリン / Pendrin / 微小重力 / 前庭 / 神経伝達物質 / GIS / KCNQ4 / マイクロアレイ / 突発性難聴 / OTOF / 人工内耳 / ANSD / RNA-Seq / 次世代シークエンサー / ABC法 / 高音障害型難聴 / SAM / 高音障害型感音難聴 / SAMマウス / 頭頸部腫瘍 / 耳下腺腫瘍 / 唾液腺腫瘍 / 耳下腺 / 微量検体 / リアルタイムPCR / タンパク質フォールディング / 難聴遺伝子 / 血管条 / ラセン靭帯 / 細胞外基質 / RNA / 発現解析 / バリアント / 電子顕微鏡 / マイクロRNA / 低音障害型感音難聴 / WFS1遺伝子 / タンパク質機能回復 / 神経可塑性 / 微少重力 / DNAマイクロアレイ / 前庭受容器 / 前庭神経 / 免疫組織化学 / 加齢促進マウス / カルシウム結合蛋白 / Calbindin / 前庭神経節 / 細胞骨格蛋白 / 加齢動物 / シナプトフィジン / Vestibule / Vestibular Ganglion / Immunohistochemistry / Senescence Accelerated Mouse / Calcium Binding Protein / calbindin / 遺伝子解析 / ミトコンドリア遺伝子 / 常染色体劣性遺伝 / (遺伝性)難聴 / hearing loss / genetics / mitochondrial DNA / recessive / 中部山岳域 / 希少昆虫 / チョウ類群集 / モニタリング手法 / 定点調査 / ベニヒカゲ / オオナガレトビケラ / オオルリシジミ / 絶滅危惧種 / DNA / 高山チョウ / トランセクト調査 / 照度 / central mountain area / rare insect / butterfly community / monitoring method / fixed point investigation / Erebia niphonica / Himalopsyche japonica / メニエール病 / 画像診断 / 前庭機能 / グルタミン酸 / グルタミン / 酸化ストレス / 遺伝子多型 / オーディとリーニューロパチー / Auditory Neuropathy / 有毛細胞 / メカノセンサー / 機械刺激電気変換 / イオンチャネル / ASIC / 神経科学 / 解剖学 / 聴力型 / 平衡 / 末梢前庭器 / 宇宙生命科学 / 宇宙 / Auditory neuropathy / 先天性難聴 / SNP / 候補遺伝子関連解析 / alternative splicing / iPS細胞 / 疾患iPS研究 / 創薬 / ミトコンドリア / Littlears / DIAPH1 / CLDN14 / OTOA / MYO6 / POLD1 / EPHA2 / 内耳機能 / TRIOBP / リポジトリ / 新規変異 / 機能解析 / MYPT / 細胞生物学 / 遺伝学 / 内耳奇形 / auditory neuropathy / hereditary hearing loss / cochlear implant / 治療アルゴリズム / ゲノムワイド関連解析 / 細分化アプローチ / 疫学調査 Less

最適治療法確立のための遺伝的・疫学的細分アプローチによる突発性難聴の病態解明
- Principal Investigator
  
  鬼頭良輔
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56050:Otorhinolaryngology-related
- Research Institution
  Shinshu University
ヒト側頭骨病理標本アーカイブを用いた遺伝性難聴の病態解明に関する研究Principal Investigator
- Principal Investigator
  
  宇佐美真一
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields
- Research Institution
  Shinshu University
Gene expression analysis of Human inner ear
- Principal Investigator
  
  西尾信哉
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56050:Otorhinolaryngology-related
- Research Institution
  Shinshu University
新規ANSD原因遺伝子の探索と臨床的特徴の解明に関する研究
- Principal Investigator
  
  野口佳裕
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56050:Otorhinolaryngology-related
- Research Institution
  Shinshu University
omprehensive investigations of physiological roles of putative mechanosensory cation channels ASICs expressed in mouse auditory and vestibular hair cells
- Principal Investigator
  
  Ugawa Shinya
- Project Period (FY)
  2017 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Nagoya City University
Gene expression profiles in mice cochlear
- Principal Investigator
  
  Nishio Shin-ya
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Modeling inner ear cilliopathy using patient derived iPS cells
- Principal Investigator
  
  FUJIOKA Masato
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Research Field
  
  Surgery related to the biological and sensory functions and related fields
- Research Institution
  Keio University
The comprehesive analysis of human hereditary deafness
- Principal Investigator
  
  Kitajiri Shin-ichiro
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Development of high throughput sequencing analysis based system for personalized medicine of deafnessPrincipal Investigator
- Principal Investigator
  
  Usami Shin-ichi
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Research on clinical feature and onset mechanism of deafness caused by mitochondrial DNA mutations
- Principal Investigator
  
  Yano Takuya
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
High frequency and mid frequency hearing loss caused by KCNQ4 gene mutations
- Principal Investigator
  
  NAITO Takehiko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
The effect of microgravity on mRNA expression in the vestibular endorgans
- Principal Investigator
  
  TAKUMI Yutaka
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  宇宙生命学
- Research Institution
  Shinshu University
Genetic analysis and clinical features of auditory neuropathy spectrum disorder patients
- Principal Investigator
  
  IWASA Yoh-ishiro
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Replication study of candidate genes associated with Age-Related Hearing Impairment in the Japanese population
- Principal Investigator
  
  SUZUKI Nobuyoshi
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Genetic background among cochlear implant patients
- Principal Investigator
  
  Miyagawa Maiko
- Project Period (FY)
  2014 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Diagnosis of endolymphatic hydrops using 3T MRI in patients with Meniere's disease.
- Principal Investigator
  
  FUKUOKA Hisakuni
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort
- Principal Investigator
  
  NISHIO Shin-ya
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea
- Principal Investigator
  
  YOSHIMURA Hidekane
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Systematic analysis of the glutamine-gulutamate cycle in the mice inner ear
- Principal Investigator
  
  OGUCHI Tomohiro
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Relationship of sudden sensorineural hearing loss and oxidative stress.
- Principal Investigator
  
  KITOH Ryosuke
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
OTOF mutation screening in Japanese sensorineural hearing loss patients
- Principal Investigator
  
  SUZUKI Hiroaki
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
ペンドリン変異体の細胞内における機能回復過程の解明
- Principal Investigator
  
  小山眞
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Tohoku University
Effect of microgravity on the gene expression in the mouse vestibular organ
- Principal Investigator
  
  TAKUMI Yutaka
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Comprehensive genetic analysis of hearing loss using next generation sequencer.Principal Investigator
- Principal Investigator
  
  USAMI Shinichi
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Creation of a New Method to Refold the Membrane Protein Mutants for Curing of Hereditary Hearing Loss
- Principal Investigator
  
  WADA Hiroshi
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Tohoku University
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
- Principal Investigator
  
  TAKUMI Yutaka
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Expression analysis of micro-RNAs in inner ear.
- Principal Investigator
  
  NISHIO Shinya
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Gene association study for the low tone hearing loss related diseases.
- Principal Investigator
  
  FUKUOKA Hisakuni
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
聴覚・平衡覚・嗅覚刺激が脳機能に及ぼす影響に関する研究Principal Investigator
- Principal Investigator
  
  宇佐美真一
- Project Period (FY)
  2007 – 2009
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
The relationship between the gene expression profile and the type of hearing impairment.
- Principal Investigator
  
  SUZUKI Nobuyoshi
- Project Period (FY)
  2007 – 2009
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Application of genes expression analysis for diagnosis of salivary gland tumor by FNA samples with qRT-PCR.
- Principal Investigator
  
  KAINUMA Kazuyuki
- Project Period (FY)
  2007 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Mechanisms of hearing loss caused by the extra-cellar matrix
- Principal Investigator
  
  ASAMURA Kenji
- Project Period (FY)
  2006 – 2008
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Molecular-genetic analysis of age related hearing impairmentPrincipal Investigator
- Principal Investigator
  
  USAMI Shin-ichi
- Project Period (FY)
  2005 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Development of the quantitative method to monitor rare insects on mountainous areas of central Japan
- Principal Investigator
  
  NAKAMURA Hiroshi
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Resource conservation science
- Research Institution
  Shinshu University
Genetic analysis of deafness and clinical applicationPrincipal Investigator
- Principal Investigator
  
  USAMI Shin-ichi
- Project Period (FY)
  2000 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
Joint Study on Hearing Loss with Mitochondrial DisorderPrincipal Investigator
- Principal Investigator
  
  USAMI Shin-ichi
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Scientific Research (B).
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Shinshu University
  Hirosaki University
Joint Study on Glutamic Acid Neurotransmission in the Inner EarPrincipal Investigator
- Principal Investigator
  
  USAMI Shinichi
- Project Period (FY)
  1996
- Research Category
  
  Grant-in-Aid for international Scientific Research
- Research Institution
  Hirosaki University
Joint Study on Genetic Analysis of Hereditary Hearing Loss
- Principal Investigator
  
  SHINKAWA Hideichi
- Project Period (FY)
  1995 – 1996
- Research Category
  
  Grant-in-Aid for international Scientific Research
- Research Institution
  Hirosaki University
Joint Study on Neuroactive Amino Acids in the Inner EarPrincipal Investigator
- Principal Investigator
  
  USAMI Shin-ichi
- Project Period (FY)
  1993 – 1994
- Research Category
  
  Grant-in-Aid for international Scientific Research
- Research Institution
  Hirosaki University
Study on neurotransmitters and their receptors distributed in the inner ear.Principal Investigator
- Principal Investigator
  
  USAMI Shin-ichi
- Project Period (FY)
  1993 – 1995
- Research Category
  
  Grant-in-Aid for General Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Hirosaki University
Immunohistochemical study on the vestibular nervous system in senescence accelerated mouse
- Principal Investigator
  
  SHINKAWA Hideichi
- Project Period (FY)
  1991 – 1993
- Research Category
  
  Grant-in-Aid for General Scientific Research (C)
- Research Field
  
  Otorhinolaryngology
- Research Institution
  Hirosaki University

[Book] きこえと遺伝子22012
- Author(s)
  宇佐美真一
- Total Pages
  126
- Publisher
  金原出版
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] Usefulness and pitfalls of genetic testing using next-generation sequencing2021
- Author(s)
  野口佳裕，西尾信哉，宇佐美真一
- Journal Title
  
  Otology Japan
  
  Volume: 31 Issue: 2 Pages: 125-130
- DOI
  10.11289/otoljpn.31.125
- NAID
  130008120525
- ISSN
  0917-2025, 1884-1457
- Language
  Japanese
- Data Source
  KAKENHI-PROJECT-19K09865
[Journal Article] 増刊号術前画像と術中解剖-カンファレンスで突っ込まれないための知識〔特別付録Web動画〕 1.耳領域人工聴覚器手術2021
- Author(s)
  野口佳裕, 岡　愛子，宇佐美真一
- Journal Title
  
  耳鼻咽喉科・頭頸部外科
  
  Volume: 93 Issue: 5 Pages: 42-50
- DOI
  10.11477/mf.1411202674
- ISSN
  0914-3491, 1882-1316
- Year and Date
  2021-04-30
- Data Source
  KAKENHI-PROJECT-19K09865
[Journal Article] Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome2020
- Author(s)
  Li, Nishio, Naruse, Riddell, Sapski, Katsuno, Hikita, Mizapourshafiyi, Smith, Cooper, Lee, Asano, Boettger, Kruger, Wietelmann, Graumann, Day, Boyd, Offermanns, Kitajiri, Usami, Nakayama
- Journal Title
  
  Nature Communications
  
  Volume: 11 Issue: 1 Pages: 1343-1343
- DOI
  10.1038/s41467-020-15198-9
- NAID
  120006888459
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04345
[Journal Article] Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?2020
- Author(s)
  Shinagawa J, Moteki H, Nishio SY, Noguchi Y, Usami SI.
- Journal Title
  
  Genes
  
  Volume: 11 Issue: 3 Pages: 250-250
- DOI
  10.3390/genes11030250
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09865
[Journal Article] Cochlear Implantation From the Perspective of Genetic Background.2020
- Author(s)
  Usami SI, Nishio SY, Moteki H, Miyagawa M, Yoshimura H.
- Journal Title
  
  Anat Rec.
  
  Volume: 303 Issue: 3 Pages: 563-593
- DOI
  10.1002/ar.24360
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09885, KAKENHI-PROJECT-19K18727, KAKENHI-PROJECT-17K11322
[Journal Article] Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant2019
- Author(s)
  Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio and Shin-ichi Usami
- Journal Title
  
  Int. J. Mol. Sci.
  
  Volume: 20 Issue: 18 Pages: 4579-4579
- DOI
  10.3390/ijms20184579
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04345
[Journal Article] Comprehensive analysis of syndromic hearing loss patients in Japan2019
- Author(s)
  Ideura Michie、Nishio Shin-ya、Sugahara Kazuma、他
- Journal Title
  
  Scientific Reports
  
  Volume: 9 Issue: 1 Pages: 11976-11976
- DOI
  10.1038/s41598-019-47141-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K09321, KAKENHI-PROJECT-18K09343, KAKENHI-PROJECT-18K09392, KAKENHI-PROJECT-19K09885, KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-17K11324, KAKENHI-PROJECT-18H04065, KAKENHI-PROJECT-17K19733
[Journal Article] OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.2019
- Author(s)
  Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI.
- Journal Title
  
  PLoS One.
  
  Volume: 14 Issue: 5 Pages: 0215932-0215932
- DOI
  10.1371/journal.pone.0215932
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-17K16900, KAKENHI-PROJECT-15K20209, KAKENHI-PROJECT-18K16890, KAKENHI-PROJECT-18K16905
[Journal Article] TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing2019
- Author(s)
  Katsuno Tatsuya、Belyantseva Inna A.、Cartagena-Rivera Alexander X.、Ohta Keisuke、Crump Shawn M.、Omori Koichi、Ito Juichi、Frolenkov Gregory I.、Friedman Thomas B.、Kitajiri Shin-ichiro
- Journal Title
  
  JCI Insight
  
  Volume: 4 Issue: 12 Pages: 1-21
- DOI
  10.1172/jci.insight.128561
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K09377, KAKENHI-PROJECT-17H04345, KAKENHI-PROJECT-20K20307, KAKENHI-PROJECT-16H06280
[Journal Article] Frequency and clinical features of hearing loss caused by STRC deletions.2019
- Author(s)
  Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI.
- Journal Title
  
  Sci Rep.
  
  Volume: 13 Issue: 1 Pages: 4408-4408
- DOI
  10.1038/s41598-019-40586-7
- NAID
  120006601523
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-18K09343
[Journal Article] Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss2019
- Author(s)
  Sugiyama、Moteki、Kitajiri、Kitano、Nishio、Yamaguchi、Wakui、Abe、Ozaki、Motegi、Matsui、Teraoka、Kobayashi、Kosho、Usami
- Journal Title
  
  Genes
  
  Volume: 10 Issue: 9 Pages: 715-732
- DOI
  10.3390/genes10090715
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K09343, KAKENHI-PROJECT-18K16829, KAKENHI-PROJECT-17H04345
[Journal Article] A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.2018
- Author(s)
  Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
- Journal Title
  
  Acta Otolaryngol.
  
  Volume: 1 Issue: 8 Pages: 708-712
- DOI
  10.1080/00016489.2018.1441545
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-15K20199, KAKENHI-PROJECT-16K09986
[Journal Article] WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.2018
- Author(s)
  Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI.
- Journal Title
  
  PLoS One.
  
  Volume: 12 Issue: 3 Pages: e0193359-e0193359
- DOI
  10.1371/journal.pone.0193359
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K11176, KAKENHI-PROJECT-15K20209, KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-18K16890
[Journal Article] Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel.2018
- Author(s)
  Nishio SY, Moteki H, Usami SI.
- Journal Title
  
  Mol Genet Genomic Med.
  
  Volume: 1 Issue: 4 Pages: 678-686
- DOI
  10.1002/mgg3.399
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-15K10747, KAKENHI-PROJECT-18K09343
[Journal Article] Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing.2017
- Author(s)
  Moteki H, Nishio S, Miyagawa M, Tsukada K, Iwasaki S, Usami S.
- Journal Title
  
  Acta Otolaryngol
  
  Volume: 137 Pages: 516-521
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26861365
[Journal Article] Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.2017
- Author(s)
  Nishio SY, Takumi Y, Usami SI.
- Journal Title
  
  Hear Res.
  
  Volume: 348 Pages: 87-97
- DOI
  10.1016/j.heares.2017.02.017
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-15H02565
[Journal Article] POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.2017
- Author(s)
  Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI.
- Journal Title
  
  PLoS One.
  
  Volume: 12 Issue: 5 Pages: e0177636-e0177636
- DOI
  10.1371/journal.pone.0177636
- NAID
  120006373770
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K11176, KAKENHI-PROJECT-17K11322, KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-17K11356
[Journal Article] The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.2017
- Author(s)
  Nishio SY, Usami SI.
- Journal Title
  
  Hum Mutat.
  
  Volume: 38 Issue: 3 Pages: 252-259
- DOI
  10.1002/humu.23160
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-17K11322
[Journal Article] An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.2016
- Author(s)
  Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S.
- Journal Title
  
  J Hum Genet.
  
  Volume: 61 Issue: 3 Pages: 253-261
- DOI
  10.1038/jhg.2015.143
- NAID
  40020766326
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861407
[Journal Article] Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.2016
- Author(s)
  Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
- Journal Title
  
  PLoS ONE
  
  Volume: 11 Issue: 9 Pages: e0162230-e0162230
- DOI
  10.1371/journal.pone.0162230
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861365
[Journal Article] A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.2016
- Author(s)
  Miyagawa M, Nishio SY, Usami S.
- Journal Title
  
  Otol Neurotol.
  
  Volume: 37 Issue: 2 Pages: e126-e134
- DOI
  10.1097/mao.0000000000000936
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-15H02565
[Journal Article] Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.2016
- Author(s)
  Iwasa Y, Nishio S, Usami S.
- Journal Title
  
  PLoS One
  
  Volume: 11 Issue: 12 Pages: e0166781-e0166781
- DOI
  10.1371/journal.pone.0166781
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] 若年発症型両側性感音難聴2016
- Author(s)
  西尾信哉、宇佐美真一
- Journal Title
  
  耳喉頭頸
  
  Volume: 88 Pages: 224-232
- NAID
  130008120546
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.2016
- Author(s)
  Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S.
- Journal Title
  
  J Hum Genet
  
  Volume: 61 Issue: 5 Pages: 419-422
- DOI
  10.1038/jhg.2015.168
- NAID
  40020825234
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.2016
- Author(s)
  Ueyama T, Ninoyu Y, Nishio S, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami S, Saito N, Kitajiri S.
- Journal Title
  
  EMBO Molecular Medicine
  
  Volume: 8 Issue: 11 Pages: 1310-1324
- DOI
  10.15252/emmm.201606609
- NAID
  120005850206
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-16J09300, KAKENHI-PROJECT-26293369, KAKENHI-PROJECT-26460340, KAKENHI-PROJECT-15K10753
[Journal Article] Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.2016
- Author(s)
  Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio S, Wakui K, Yamaguchi T, Kolbe DL, Iwasa Y, Shearer AE, Fukushima Y, Smith RJ, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol
  
  Volume: 125 Issue: 11 Pages: 918-923
- DOI
  10.1177/0003489416661345
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-15K10747
[Journal Article] 難聴の遺伝子診断とその臨床応用2016
- Author(s)
  西尾信哉、宇佐美真一
- Journal Title
  
  耳鼻臨床
  
  Volume: 109 Pages: 828-829
- NAID
  130005170765
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] SOD1 gene polymorphisms in sudden sensorineural hearing loss.2016
- Author(s)
  Kitoh R, Nishio SY, Ogawa K, Okamoto M, Kitamura K, Gyo K, Sato H, Nakashima T, Fukushima K, Hara A, Yamasoba T, Usami S.
- Journal Title
  
  Acta Otolaryngol.
  
  Volume: 136 Issue: 5 Pages: 465-469
- DOI
  10.3109/00016489.2015.1116047
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25861543
[Journal Article] Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.2015
- Author(s)
  Nishio SY, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 49S-60S
- DOI
  10.1177/0003489415575059
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-25462633
[Journal Article] Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.2015
- Author(s)
  Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJ.
- Journal Title
  
  Clin Genet.
  
  Volume: e-pub Issue: 4 Pages: 466-472
- DOI
  10.1111/cge.12677
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10747, KAKENHI-PROJECT-15H02565
[Journal Article] Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.2015
- Author(s)
  Miyagawa M, Nishio SY, Kumakawa K, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 148S-157S
- DOI
  10.1177/0003489415575055
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.2015
- Author(s)
  Mori K, Miyanohara I, Moteki H, Nishio SY, Kurono Y, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 129S-134S
- DOI
  10.1177/0003489415575061
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.2015
- Author(s)
  Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 184S-192S
- DOI
  10.1177/0003489415575041
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-26861407
[Journal Article] Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports.2015
- Author(s)
  Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami SI.
- Journal Title
  
  Ann Otol Rhinol Laryngol
  
  Volume: 124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25670715
[Journal Article] Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness.2015
- Author(s)
  Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami SI.
- Journal Title
  
  Ann Otol Rhinol Laryngol
  
  Volume: 124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25670715
[Journal Article] Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.2015
- Author(s)
  Nishio SY, Hayashi Y, Watanabe M, Usami S.
- Journal Title
  
  Genet Test Mol Biomarkers.
  
  Volume: 19 Issue: 4 Pages: 209-217
- DOI
  10.1089/gtmb.2014.0252
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565, KAKENHI-PROJECT-25462633
[Journal Article] Germinal mosaicism in a family with BO syndrome.2015
- Author(s)
  Miyagawa M, Nishio SY, Hattori M, Takumi Y, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 118S-122S
- DOI
  10.1177/0003489415575062
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.2015
- Author(s)
  Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 158S-168S
- DOI
  10.1177/0003489415575058
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.2015
- Author(s)
  Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 111S-117S
- DOI
  10.1177/0003489415575044
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.2015
- Author(s)
  Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 84S-93S
- DOI
  10.1177/0003489415575057
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26861365
[Journal Article] Detailed hearing and vestibular profiles in the patients with COCH mutations.2015
- Author(s)
  Tsukada K, Ichinose A, Miyagawa M, Mori K, Hattori M, Nishio SY, Naito Y, Kitajiri S, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 100S-110S
- DOI
  10.1177/0003489415573074
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms.2015
- Author(s)
  Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami SI.
- Journal Title
  
  Ann Otol Rhinol Laryngol
  
  Volume: 124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25670715
[Journal Article] Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.2015
- Author(s)
  Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 77S-83S
- DOI
  10.1177/0003489415574513
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.2015
- Author(s)
  Ichinose A, Moteki H, Hattori M, Nishio SY, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 142S-147S
- DOI
  10.1177/0003489415575043
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] Mutational Spectrum and Clinical Features of Patients With ACTG1 Mutations Identified by Massively Parallel DNA Sequencing.2015
- Author(s)
  Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri SI, Usami SI.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26861365
[Journal Article] The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.2015
- Author(s)
  Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 193S-204S
- DOI
  10.1177/0003489415575056
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26861365, KAKENHI-PROJECT-15H02565
[Journal Article] Mutations in LOXHD1 gene cause various types and severities of hearing loss.2015
- Author(s)
  Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124 Issue: 1_suppl Pages: 135S-141S
- DOI
  10.1177/0003489415574067
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Journal Article] The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation.2015
- Author(s)
  Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami SI.
- Journal Title
  
  Ann Otol Rhinol Laryngol.
  
  Volume: 124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26861365
[Journal Article] Deafness gene expression patterns in the mouse cochlea found by microarray analysis.2014
- Author(s)
  Yoshimura H, Takumi Y, Nishio SY, Suzuki N, Iwasa Y, Usami S.
- Journal Title
  
  PLoS One.
  
  Volume: 9 Issue: 3 Pages: e92547-e92547
- DOI
  10.1371/journal.pone.0092547
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25670715
[Journal Article] Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 12014
- Author(s)
  Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.
- Journal Title
  
  PLoS One
  
  Volume: 11 Issue: 3 Pages: e90688-e90688
- DOI
  10.1371/journal.pone.0090688
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25670715
[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
- Journal Title
  
  PLoS One
  
  Volume: 8(5) Issue: 5 Pages: e63231-e63231
- DOI
  10.1371/journal.pone.0063231
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-25462633
[Journal Article] OTOF mutation screening in Japanese severe to profound recessive hearing loss patients2013
- Author(s)
  Iwasa Y, Nishio S, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S.
- Journal Title
  
  BMC Med Genet
  
  Volume: 14 Issue: 1 Pages: 1-5
- DOI
  10.1186/1471-2350-14-95
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25861544
[Journal Article] Patients with CDH23 mutation and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)2012
- Author(s)
  Usami S., Miyagawa M., Nishio S., Moteki H., Takumi Y., Suzuki M., Kitano Y., Iwasaki S.
- Journal Title
  
  Acta Otolaryngol
  
  Volume: 132 Issue: 4 Pages: 377-384
- DOI
  10.3109/00016489.2011.649493
- NAID
  120007110630
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21592153, KAKENHI-PROJECT-21791607, KAKENHI-PROJECT-22249057
[Journal Article] 難聴遺伝子はどこまで解明されたのか2012
- Author(s)
  宇佐美真一
- Journal Title
  
  JOHNS.
  
  Volume: 28(3) Pages: 292-293
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.2012
- Author(s)
  Usami S, Nishio SY, Nagano M, Abe S, Yamaguchi T
- Journal Title
  
  PLoS One
  
  Volume: 7(2) Issue: 2 Pages: 1-8
- DOI
  10.1371/journal.pone.0031276
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 両側性特発性感音難聴2012
- Author(s)
  宇佐美真一
- Journal Title
  
  JOHNS
  
  Volume: 28(5) Pages: 775-778
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study2012
- Author(s)
  iyagawa M, Nishio SY, Usami S.
- Journal Title
  
  PLoS One
  
  Volume: 7(8) Issue: 8 Pages: e40366-e40366
- DOI
  10.1371/journal.pone.0040366
- NAID
  120007108255
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 残存聴力活用型人工内耳(EAS:electric acoustic stimulation)～低侵襲手術、聴力保存成績、術後聴取能、遺伝的背景について～2012
- Author(s)
  宇佐美真一
- Journal Title
  
  耳鼻臨床
  
  Volume: 133 Pages: 312-312
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 人工内耳埋め込み術を行ったCDH23遺伝子変異による難聴症例2012
- Author(s)
  宮川麻衣子、茂木英明、工穣、宇佐美真一
- Journal Title
  
  耳喉頭頸
  
  Volume: 84 Pages: 59-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion2012
- Author(s)
  Moteki H, Nishio SY, Hashimoto S, Takumi Y, Iwasaki S, Takeichi N, Fukuda S, Usami S.
- Journal Title
  
  J Hum Genet
  
  Volume: 57(9) Issue: 9 Pages: 587-92
- DOI
  10.1038/jhg.2012.73
- NAID
  10031056980
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis2012
- Author(s)
  Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N
- Journal Title
  
  Clin Genet.
  
  Volume: 82(6) Issue: 6 Pages: 514-20
- DOI
  10.1111/j.1399-0004.2011.01831.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 難聴と遺伝子2012
- Author(s)
  宇佐美真一
- Journal Title
  
  耳喉頭頸
  
  Volume: 84 Pages: 883-890
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 残存聴力活用型人工内耳(electric acoustic stimulation) ～手術法と聴力保存成績について～2011
- Author(s)
  宇佐美真一、茂木英明、宮川麻衣子、内藤武彦、西尾信哉、工穣、岩崎聡
- Journal Title
  
  Otol Jpn
  
  Volume: 21(5) Pages: 763-770
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] Inverted papilloma of the middle ear : a case report and review of the literature.2011
- Author(s)
  Kainuma K, Kitoh R, Kenji S, Usami S.
- Journal Title
  
  Acta Otolaryngol.
  
  Volume: 131 Pages: 216-220
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations2011
- Author(s)
  Moteki H, Naito Y, Fujiwara K, Kitoh R, Nishio S Y, Oguchi K, Takumi Y, Usami SI
- Journal Title
  
  Acta Oto-Laryngol
  
  Volume: 131 Issue: 11 Pages: 1232-1236
- DOI
  10.3109/00016489.2011.593719
- NAID
  120007110633
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21592153, KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-22591894, KAKENHI-PROJECT-22791587
[Journal Article] 難聴の遺伝子診断2011
- Author(s)
  宇佐美真一
- Journal Title
  
  Audiology Japan
  
  Volume: 54 Pages: 44-55
- NAID
  10029001688
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 補聴器と人工内耳の融合残存聴力活用型人工内耳について2011
- Author(s)
  宇佐美真一
- Journal Title
  
  耳鼻咽喉科・頭頸部外科
  
  Volume: 83(6) Pages: 393-401
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] 難聴の遺伝子診断2011
- Author(s)
  宇佐美真一
- Journal Title
  
  日本臨牀
  
  Volume: 69(2) Pages: 357-367
- NAID
  10029001688
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057
[Journal Article] Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection : CMV DNA diagnosis using preserved umbilical cord2011
- Author(s)
  Furutate S, Iwasaki s, Nishio S, Moteki H, Usami S
- Journal Title
  
  Acta Oto-Laryngol
  
  Volume: 131 Issue: 9 Pages: 976-782
- DOI
  10.3109/00016489.2011.583268
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-23592477
[Journal Article] Inverted papilloma of the middle ear: a case report and review of the literature2011
- Author(s)
  Kainuma K, Kitoh R, Kenji S, Usami S.
- Journal Title
  
  Acta Otolaryngol. 131(2)
  
  Pages: 216-220
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Hybrid carcinoma of the parotid gland: report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature.2010
- Author(s)
  Kainuma K, Oshima A, Suzuki H, Fukushima M, Shimojo H, Usami S.
- Journal Title
  
  Acta Otolaryngol 130(1)
  
  Pages: 185-189
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients.2010
- Author(s)
  Tsukada K, Nishio S, Usami S
- Journal Title
  
  Clin Genet
  
  Volume: 78(5) Issue: 5 Pages: 464-70
- DOI
  10.1111/j.1399-0004.2010.01407.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249057, KAKENHI-PROJECT-22890077
[Journal Article] Salicylate restores transport function an anion exchanger activity of missense pendrin mutation2010
- Author(s)
  Ishihara K, Okuyama S, Kumano S, Iida K, Hamana H, Murakoshi M, Kobayashi T, Usami S, Wada H
- Journal Title
  
  Hear.Res. 270
  
  Pages: 110-118
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390439
[Journal Article] Hybrid carcinoma of the parotid gland : report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature.2010
- Author(s)
  Kainuma K, Oshima A, Suzuki H, Fukushima M, Shimojo H, Usami S.
- Journal Title
  
  Acta Otolaryngol.
  
  Volume: 130 Pages: 185-189
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Chondrosarcoma of the nasal septum: A case report2009
- Author(s)
  Kainuma K, Netsu K, Asamura K, Hayashi K, Takumi Y, Ota H, Usami S.
- Journal Title
  
  Auris Nasus Larynx. 36(5)
  
  Pages: 601-605
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Factors that affect hearing level in individuals with the mitochondrial 1555A>G mutation.2009
- Author(s)
  Ro SY, Nishio s, Tsukada K, Oguchi T, Kobayashi K, Abe S, Usami S.
- Journal Title
  
  Clinic. Gent (In press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Hybrid carcinoma of the parotid gland: report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature.2009
- Author(s)
  Kainuma K, Oshima A, Suzuki H, Fukushima M, Shimojo H, Usami S I
- Journal Title
  
  Acta Otolaryngol
  
  Pages: 1-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Chondrosarcoma of the nasal septum: A case report.2009
- Author(s)
  Kainuma K, Netsu K, Asamura K, Hayashi K, Takumi Y, Ota H, Usami S
- Journal Title
  
  Auris Nasus Larynx 36
  
  Pages: 601-605
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea.2008
- Author(s)
  Usami s, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A, Matsubara A.
- Journal Title
  
  Neuroscience 154
  
  Pages: 22-28
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] The responsible genes in Japanese deafness patients and clinical application using Invader assay2008
- Author(s)
  Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S
- Journal Title
  
  Acta Otolaryngol 128(4)
  
  Pages: 446-54
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and C0L9A1, genes highly expressed in the cochlea.2008
- Author(s)
  Usami S, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A, Matsubara A.
- Journal Title
  
  Neuroscience 154
  
  Pages: 22-28
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591977
[Journal Article] The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea2008
- Author(s)
  Usami S, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A, Matsubara A
- Journal Title
  
  Neuroscience 154(1)
  
  Pages: 22-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Kimberling WJ.Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I2008
- Author(s)
  Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C
- Journal Title
  
  Hum Mutat 29(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] The responsible genes in Japanese deafness patients and clinical application using Invader assay2008
- Author(s)
  Usami S, Wagatsuma M, Fukuoka H, Suzuki H, Tsukada K, Nishio S, Takumi Y, Abe S.
- Journal Title
  
  Acta Otolaryngol. 128
  
  Pages: 446-454
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.2008
- Author(s)
  Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.
- Journal Title
  
  Hum Mutat. 29
  
  Pages: 37-46
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.2007
- Author(s)
  Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.
- Journal Title
  
  Clin Genet 72
  
  Pages: 339-344
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA12007
- Author(s)
  Matsunaga T, Okada M, Usami S, Okuyama T
- Journal Title
  
  Acta Otolaryngol 127(1)
  
  Pages: 98-104
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Application of Deafness Diagnostic Screening Panel Based on Deafness Mutation/Gene Database Using Invader Assay.2007
- Author(s)
  Abe S, Yamaguchi T, Usami S.
- Journal Title
  
  Genetic Testing 11
  
  Pages: 333-340
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] micro-Crystallin as an intracellular 3,5,3'-triiodothyronine holder in vivo2007
- Author(s)
  Suzuki S, Suzuki N, Mori J, Oshima A, Usami S, Hashizume K
- Journal Title
  
  Mol Endocrinol 21(4)
  
  Pages: 885-94
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Immunocytochemical localization of ubiquitin A-52 protein in the mouse inner ear2007
- Author(s)
  Kitoh R, Oshima A, Suzuki N, Hashimoto S, Takumi Y, Usami S
- Journal Title
  
  Neuroreport 18(9)
  
  Pages: 869-873
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Application of Deafness Diagnostic Screening Panel Based on Deafness Mutation/Gene Database Using Invader Assay.2007
- Author(s)
  Abe S, Yamaguchi T, Usami S
- Journal Title
  
  Genetic Testing 11(3)
  
  Pages: 333-340
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss2007
- Author(s)
  Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S
- Journal Title
  
  Clin Genet 72(4)
  
  Pages: 339-44
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Meningioma of the paranasal sinus: a case report.2007
- Author(s)
  Kainuma K, Takumi Y, Uehara T, Usami S
- Journal Title
  
  Auris Nasus Larynx 34
  
  Pages: 397-400
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19791203
[Journal Article] Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.2007
- Author(s)
  TATSUO MATSUNAGA, MICHIYO OKADA, SHIN-ICHI USAMI, TORAYUKI OKUYAMA
- Journal Title
  
  Acta Oto-Laryngologica 127
  
  Pages: 98-104
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese2007
- Author(s)
  Fukuoka H, Kanda Y, Ohta S, Usami S
- Journal Title
  
  J Hum Genet 52(6)
  
  Pages: 510-515
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.2007
- Author(s)
  Fukuoka H, Kanda Y, Ohta S, Usami S.
- Journal Title
  
  J Hum Genet 52
  
  Pages: 510-515
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene2006
- Author(s)
  Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S
- Journal Title
  
  Am J Hum Genet 79(3)
  
  Pages: 449-57
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea.2006
- Author(s)
  Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S.
- Journal Title
  
  J Med Genet 43(6):e25
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea2006
- Author(s)
  Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S
- Journal Title
  
  J Med Genet 43(6)
  
  Pages: 25-25
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.2006
- Author(s)
  Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanoenacker F, Declau F, Van de Heyning P, Usami S
- Journal Title
  
  Am J Hum Genet 79(3)
  
  Pages: 449-57
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct2006
- Author(s)
  Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H
- Journal Title
  
  J Hum Genet 51(9)
  
  Pages: 805-10
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] 内耳毒性と遺伝子2006
- Author(s)
  宇佐美真一
- Journal Title
  
  JOHNS 22:NO.7
  
  Pages: 952-954
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] 難聴診断における遺伝子検査の現状2006
- Author(s)
  宇佐美真一
- Journal Title
  
  Audiology Japan 49
  
  Pages: 346-352
- NAID
  10021298744
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids.2006
- Author(s)
  Matsunaga T, Hirota E, Bito S, Niimi S, Usami S.
- Journal Title
  
  Audiol Neurootol 11(1)
  
  Pages: 59-68
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea.2006
- Author(s)
  Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S.
- Journal Title
  
  J Med Genet (In press)
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular Aqueduct.2006
- Author(s)
  Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H
- Journal Title
  
  J Hum Genet e 51(9)
  
  Pages: 805-10
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids2005
- Author(s)
  Matsunaga T, Hirota E, Bito S, Niimi S, Usami S
- Journal Title
  
  Audiol Neurootol 11(1)
  
  Pages: 59-68
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Genetic diagnosis of deafness.2005
- Author(s)
  Usami S.
- Journal Title
  
  Nippon Rinsho 63
  
  Pages: 258-263
- NAID
  40017119433
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside.2005
- Author(s)
  T.Matsunaga, H.Kumanomido, M.Shiroma, Y.Goto, S.Usami.
- Journal Title
  
  Ann Otol Rhinol Laryngol 114:2
  
  Pages: 153-160
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Type IX Collagen is crucial for normal hearing2005
- Author(s)
  K.Asamura, S.Abe Y.Imamura, A.Aszodi N.Suzuki, S.Hashimoto Y.Takumi, T.Hayashi, R.Fassler Y.Nakamura, S.Usami
- Journal Title
  
  Neuroscience 132
  
  Pages: 493-450
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Clinical features of patients with GJB2(connexin26) mutations : severity of hearing loss is correlated with genotypes and protein expression patterns.2005
- Author(s)
  T.Oguchi, A.Ohtsuka S.Hashimoto, A.Oshima S.Abe, Y.Kobayashi, K.Nagai T.Nakagawa, S.Usami
- Journal Title
  
  J Hum Genet 50
  
  Pages: 76-83
- NAID
  10014513264
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] GABA-induced response in spiral ganglion cells acutely isolated from guinea pig cochlea.2005
- Author(s)
  Nakagawa T, Yamashita M, Hisashi K, Usami SI.Kakazu Y, Shibata S, Nakashima T, Koike K, Kubo K, Komune S.
- Journal Title
  
  Neurosci Res 53(4)
  
  Pages: 396-403
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] 疾患群の遺伝学的検査と遺伝子検査難聴2005
- Author(s)
  宇佐美真一
- Journal Title
  
  日本臨床 63
  
  Pages: 258-263
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Factors that affect hearing level in individuals with the mitochondrial 1555A>G mutation Clinic
- Author(s)
  Ro SY, Nishio S, Tsukada K, Oguchi T, Kobayashi K, Abe S, Usami S
- Journal Title
  
  Gent. 2008 (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Endolymphatic hydrops and therapeutic effects are visualized in "atypical" Meniere's disease
- Author(s)
  Miyagawa M, Fukuoka H, Tsukada K, Oguchi1 T, Takumi Y, Sugiura M, Ueda H, Kadoya M, Usami S
- Journal Title
  
  Acta Otolaryngol (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Journal Article] Quantitative evaluation of endolymphatic hydrops by bilateral intratympanic Gd-DTPA administration with MRI imaging for Meniere's disease
- Author(s)
  Fukuoka H, Tsukada K, Miyagawa M, Oguchi T, Takumi1 Y, Sugiura M, Ueda H, Kadoya M, Usami S
- Journal Title
  
  Acta Otolaryngol (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] Identification of Hearing-loss Associated Mutations in MYO6 and In Vitro Functional Analysis2020
- Author(s)
  Timothy F. Day, Shin-ichiro Kitajiri, Shin-ichiro Oka, Hideaki Moteki, Shin-ya Nishio, Shin-ichi Usami
- Organizer
  ARO The 43rd Annual MidWinter Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] Clinical Features of Deafness Caused by a Novel CLDN14 Variant2020
- Author(s)
  Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami
- Organizer
  ARO The 43rd Annual MidWinter Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] Molecular investigations of deafness-related genes ACTG1 and MYO6 in vitro2019
- Author(s)
  Day Timothy，岡晋一郎，宮嶋宏樹，北尻真一郎，西尾信哉，宇佐美真一
- Organizer
  第64回日本聴覚医学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] ヒト遺伝性難聴より見出したMYO6遺伝子変異の細胞学的解析2019
- Author(s)
  北尻真一郎、Timothy Day、岡晋一郎、西尾信哉、宇佐美真一
- Organizer
  第29回日本耳科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] TNCバリアントによる常染色体優性非症候群性遺伝性難聴2019
- Author(s)
  野口佳裕、西尾信哉、茂木英明、藤川太朗、宇佐美真一
- Organizer
  第29回　日本耳科学会学術講演会
- Data Source
  KAKENHI-PROJECT-19K09865
[Presentation] ACTG1変異による難聴症例の臨床像と変異型γアクチンの細胞内局在2019
- Author(s)
  宮嶋宏樹(Hiroki Miyajima)、茂木英明(Hideaki Moteki)、Timothy Day、西尾信哉(Shin-ya Nishio)、北尻真一郎(Shin-ichiro Kitajiri)、宇佐美真一(Shin-ichi Usami)
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] ２つの全エクソーム解析技術によりHOXA2バリアントが同定された常染色体優性混合性難聴家系2019
- Author(s)
  野口佳裕、西尾信哉、宇佐美真一
- Organizer
  第81回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-19K09865
[Presentation] CNVs スクリーニングにより見出された OTOA 遺伝子変異による難聴 5 症例2019
- Author(s)
  杉山健二郎(Kenjiro Sugiyama)、北野友裕(Tomohiro Kitano)、西尾信哉(Shin-ya Nishio)、北尻真一郎(Shin-ichiro Kitajiri)、茂木英明(Hideaki Moteki)、宇佐美真一(Shin-ichi Usami)
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] 日本人で初めて見出された CLDN14 変異による難聴症例2019
- Author(s)
  北野友裕、北尻真一郎、西尾信哉、宇佐美真一
- Organizer
  第29回日本耳科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea.2018
- Author(s)
  Nishio S, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シークエンスによりTMC1遺伝子変異が同定された先天性難聴例2018
- Author(s)
  大上麻由里、塚原桃子、大貫優子、高橋千果、和泉俊一郎、西尾信哉、宇佐美真一
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] Variation of the LOXHD1 Mutation and its phenotypic features.2018
- Author(s)
  Maekawa K, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 難聴の遺伝学的検査と疾患得意的データストレージ構築2018
- Author(s)
  宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] TRIOBP regulates the localization of molecules in the inner ear hair cell2018
- Author(s)
  Shin-ichiro Kitajiri, Tomoko Kita, Raj K Ladher, Shin-ichi Usami
- Organizer
  Joint Annual Meeting of 51st JSDB and 70th JSCB
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] LOXHD1遺伝子変異とその表現型2018
- Author(s)
  前川カルナ、西尾信哉、宇佐美真一
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] STRC遺伝子のCNVによる欠失とフレームシフト変異の複合ヘテロ接合体による難聴を呈した双子症例2018
- Author(s)
  荒井康裕、森下大輝、佐久間直子、高橋優宏、西尾信哉、宇佐美真一
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] A duplication mutation in HOXA2 causes autosomal dominant nonsyndromic mixed hearing loss and middle ear anomaly.2018
- Author(s)
  Noguchi Y, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] Social health insurance-based comprehensive genetic testing clarified the molecular epidemiology of deafness.2018
- Author(s)
  Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] TECTA遺伝子変異が同定された優性遺伝形式遺伝性難聴の1家系2018
- Author(s)
  石川浩太郎、西尾信哉、宇佐美真一
- Organizer
  第28回日本耳科学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] Targeted next-generation sequencing analysis of the genotype-phenotype correlation of DFNA8/12 caused by TECTA mutation in 990 autosomal dominant hearing loss patients.2018
- Author(s)
  Yasukawa R, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] ACTG1遺伝子変異による難聴症例の検討2018
- Author(s)
  宮嶋宏樹、茂木英明、北尻真一郎、西尾信哉、村田孝啓、池園哲郎、武田英彦、阿部聡子、岩崎聡、高橋優宏、内藤泰、山崎博司、神田幸彦、宇佐美真一
- Organizer
  第63回日本聴覚医学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] Regulation of the localization of molecules in hair cell stereocilia by TRIOBP.2018
- Author(s)
  Kitajiri S, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] OTOF mutation analysis with massively parallel DNA sequencing in 2135 Japanese sensorineural hearing loss patients.2018
- Author(s)
  Iwasa Y, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea.2018
- Author(s)
  Nishio S, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] OTOF遺伝子p.R1172Q変異による難聴発症機序の解析2018
- Author(s)
  岩佐陽一郎、北尻真一郎、西尾信哉、吉村豪兼、宇佐美真一
- Organizer
  第63回日本聴覚医学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] Haplotype analysis of GJB2 mutations: founder effect or mutation hot-spot?2018
- Author(s)
  Shinagawa J, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] EYA4遺伝子変異症例の聴力像の検討2018
- Author(s)
  品川潤、西尾信哉、茂木英明、野口佳裕、宇佐美真一
- Organizer
  第28回日本耳科学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] Copy number variation in the STRC gene are a common cause of moderate hearing loss in a Japanese population.2018
- Author(s)
  Moteki H, Usami S
- Organizer
  Association for Research in Otolaryngology 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] MYO6遺伝子変異による難聴症例の検討2018
- Author(s)
  岡晋一郎、茂木英明、西尾信哉、宇佐美真一
- Organizer
  第63回日本聴覚医学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] ACTG1遺伝子変異による難聴症例の検討2018
- Author(s)
  宮嶋宏樹、茂木英明、北尻真一郎、西尾信哉、村田考啓、池園哲郎、武田英彦、阿部聡子、岩崎聡、高橋優宏、内藤泰、山崎博司、神田幸彦、宇佐美真一
- Organizer
  第63回日本聴覚医学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] ヒトiPS細胞を用いたミトコンドリア1555変異難聴の病態解明2018
- Author(s)
  喜多知子、伊木健浩、水越彬文、宇佐美真一、北尻真一郎
- Organizer
  第28回日本耳科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] STRC遺伝子Copy Number Variation(CNV)による感音難聴の２症例2017
- Author(s)
  横田陽、茂木英明、西尾信哉、宮崎浩充、日高浩史、大山健二、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] NGS-Based Genetic Testing for Deafness2017
- Author(s)
  Nishio S, Usami S
- Organizer
  AAO-HNSF2017 (ENT Annual Meeting)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] ヌーナン症候群および類縁疾患における人工内耳2017
- Author(s)
  野口佳裕、宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] RELATIONSHIP BETWEEN ETIOLOGY AND EARLY AUDITORY DEVELOPMENT AFTER PEDIATRIC COCHLEAR IMPLANTATION.2017
- Author(s)
  Gonda A, Miyagawa M, Moteki H, Usami S
- Organizer
  APCSLH 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 当科におけるGJB2遺伝子変異による難聴症例の検討2017
- Author(s)
  石川浩太郎、西尾信哉、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 日本人難聴患者6004例におけるTECTA遺伝子変異ー難聴遺伝子データベースの解析から2017
- Author(s)
  安川梨香、平松憲、茂木英明、西尾信哉、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 眼振検査支援システム（C-Nys）上でのEpley法記録シートの活用ー施行中の眼振と経過についてー2017
- Author(s)
  工　穰、中村正、福岡久邦、矢野卓也、塚田景大、池田卓生、宇佐美真一
- Organizer
  第76回日本めまい平衡医学会
- Data Source
  KAKENHI-PROJECT-15K20199
[Presentation] 外耳、中耳奇形例に対するHOXA2遺伝子解析2017
- Author(s)
  野口佳裕、西尾信哉、和佐野浩一郎、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] Mutation spectrum and genotype-phenotype correlation of hearingloss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.2017
- Author(s)
  Miyagawa M, Usami S
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーを用いた日本人難聴患者におけるEYA4遺伝子変異の検討2017
- Author(s)
  品川潤、茂木英明、西尾信哉、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会学術講演会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 外耳、中耳奇形例に対するHOXA2遺伝子解析2017
- Author(s)
  野口佳裕、西尾信哉、和佐野浩一郎、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] SLC26A4遺伝子変異症例における聴力,めまいの長期経過2017
- Author(s)
  塚田景大、小林正史、宮川麻衣子、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] IMPROVEMENT IN MUSIC PERCEPTION AFTER COCHLEAR IMPLANTATION AND EAS.2017
- Author(s)
  Suzuki K, Miyagawa M, Moteki H, Nishio S, Usami S
- Organizer
  APCSLH 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 小児人工内耳装用児における初期聴性行動の発達について2017
- Author(s)
  權田綾子、宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第62回　日本音声言語医学会総会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] POU4F3遺伝子変異を認めた一例の前庭機能について2017
- Author(s)
  白井杏湖、太田陽子、西山信宏、河口幸江、宇佐美真一、塚原清彰
- Organizer
  第76回日本めまい平衡医学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] WFS1遺伝子変異が同定された優性遺伝形式遺伝性難聴のⅠ家系2017
- Author(s)
  石川浩太郎、西尾信哉、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 保険収載された難聴の遺伝学的検査の現状2017
- Author(s)
  宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Waardenburg症候群における平衡機能の検討2017
- Author(s)
  渡邊築、塚田景大、小林正史、宇佐美真一
- Organizer
  第76回日本めまい平衡医学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 保険収載された難聴の遺伝学的検査の現状2017
- Author(s)
  宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] STRC遺伝子Copy Number Variation(CNV)による感音難聴の２症例2017
- Author(s)
  横田陽、茂木英明、西尾信哉、宮崎浩充、日高浩史、大山健二、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] COL11A2遺伝子変異によるStickler症候群３型の２症例2017
- Author(s)
  岡晋一郎、岩佐陽一郎、西尾信哉、茂木英明、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] EYA4遺伝子変異による遺伝生感音難聴の1家系2017
- Author(s)
  阿部聡子、三澤建、武田英彦、西尾信哉、宇佐美真一
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] Waardenburg症候群日本人患者の遺伝子変異と臨床症状について2017
- Author(s)
  出浦美智恵、西尾信哉、宇佐美真一
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] Novel Mutations in EYA4 Lead to Progressive hearing Loss.2017
- Author(s)
  Shinagawa J, Moteki H, Nishio S, Usami S
- Organizer
  AAO-HNSF 2017 (ENT Annual Meeting)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017
- Author(s)
  杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] COL11A2遺伝子変異によるStickler症候群３型の２症例2017
- Author(s)
  岡晋一郎、岩佐陽一郎、西尾信哉、茂木英明、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 保険収載された難聴の遺伝学的検査の現状2017
- Author(s)
  宇佐美真一、茂木英明、宮川麻衣子、西尾信哉
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 日本人難聴患者6004例におけるTECTA遺伝子変異ー難聴遺伝子データベースの解析から2017
- Author(s)
  安川梨香、平松憲、茂木英明、西尾信哉、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017
- Author(s)
  西尾信哉、宇佐美真一
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] STRC遺伝子におけるコピー数変化による難聴2017
- Author(s)
  茂木英明、横田陽、岡晋一郎、西尾信哉、、山口智美、涌井敬子、宇佐美真一
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] Acoustic Stimulation in Cases with Less Residual Hearing2017
- Author(s)
  Moteki H, Nishio S, Miyagawa M, Tsukada K, Noguchi Y, Usami S
- Organizer
  AAO-HNSF2017 (ENT Annual Meeting)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 軽度・中等度難聴児補聴器購入助成制度によって骨導補聴器購入に至った症例について2017
- Author(s)
  工　穣、佐藤梨里子、鈴木宏明、茂木英明、宮川麻衣子、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 先天性サイトメガロウイルス感染による難聴ー長野県新生児9.000名に対するスクリーニングプロジェクト2017
- Author(s)
  茂木英明、西尾信哉、宮川麻衣子、矢野卓也、岩崎聡、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017
- Author(s)
  杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会学術講演会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] USH2A遺伝子変異が同定された両中等度難聴３兄妹例2017
- Author(s)
  大上麻由里、追川陽子、塚原桃子、清水福子、鈴木典子、大川智恵、大上研二、飯田正弘、西尾信哉、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 先天性サイトメガロウイルス感染による難聴ー長野県新生児9.000名に対するスクリーニングプロジェクト2017
- Author(s)
  茂木英明、西尾信哉、宮川麻衣子、矢野卓也、岩崎聡、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-15K20199
[Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017
- Author(s)
  西尾信哉、宇佐美真一
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 日本人難聴患者におけるPOU3F4遺伝子変異の検討2017
- Author(s)
  杉山健二郎、茂木英明、宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Novel Mutations in EYA4 Lead to Progressive hearing Loss2017
- Author(s)
  Shinagawa J, Moteki H, Nishio S, Usami S
- Organizer
  AAO-HNSF2017 (ENT Annual Meeting)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] SLC26A4遺伝子変異症例における聴力;めまいの長期経過2017
- Author(s)
  塚田景大、小林正史、宮川麻衣子、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例2017
- Author(s)
  北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] EYA4遺伝子変異による遺伝生感音難聴の1家系2017
- Author(s)
  阿部聡子、三澤建、武田英彦、西尾信哉、宇佐美真一
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 両側同時人工内耳埋め込みを行った症例の検討2017
- Author(s)
  茂木英明、杉山健二郎、塚田景大、宮川麻衣子、野口佳裕、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 遺伝性難聴から見た蝸牛と前庭2017
- Author(s)
  塚田景大、宇佐美真一
- Organizer
  第76回日本めまい平衡医学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーを用いた日本人難聴患者におけるEYA4遺伝子変異の検討2017
- Author(s)
  品川潤、茂木英明、西尾信哉、宇佐美真一
- Organizer
  第79回　耳鼻咽喉科臨床学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] GJB2遺伝子変異による常染色体優性遺伝形式を呈する掌　角化症を伴う先天性感音難聴の一家系2017
- Author(s)
  荒井康裕、宇佐美真一、高橋優宏、佐久間直子、西尾信哉
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] NGS-Based Genetic Testing for Deafness.2017
- Author(s)
  Nishio S, Usami S
- Organizer
  AAO-HNSF 2017 (ENT Annual Meeting)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 小児両側同時人工内耳埋め込み術に関する検討2017
- Author(s)
  茂木英明、杉山健二郎、塚田景大、宮川麻衣子、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 遺伝性難聴患者を対象とした臨床ゲノムデータベースの構築2017
- Author(s)
  西尾信哉、宇佐美真一
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] GJB2遺伝子変異による常染色体優性遺伝形式を呈する掌　角化症を伴う先天性感音難聴の一家系2017
- Author(s)
  荒井康裕、宇佐美真一、高橋優宏、佐久間直子、西尾信哉
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーを用いたAuditory neuropathy spectrum disorderに対する遺伝子解析2017
- Author(s)
  岩佐陽一郎、西尾信哉、宇佐美真一
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] POU4F3遺伝子変異症例における平衡機能障害の検討2017
- Author(s)
  北野友裕、塚田景大、小林正史、宇佐美真一
- Organizer
  第76回日本めまい平衡医学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 遺伝性難聴DFNA1の原因遺伝子DIAPH1と、その変異による難聴発症メカニズムの解明2017
- Author(s)
  北尻真一郎、二之湯弦、西尾信哉、三好拓志、鳥居紘子、西村幸司、菅原一真、坂田英明、Dean Thumkeo、坂口博史、渡邊直樹、宇佐美真一、齋藤尚亮、上山健彦
- Organizer
  日本人類遺伝学会第62回大会.　2017年11月15日（水）～18日（土）、神戸
- Data Source
  KAKENHI-PROJECT-17H04345
[Presentation] Genetics of deafness.2017
- Author(s)
  Usami SI
- Organizer
  ENT WORLD CONGRESS （IFOS) 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 当科におけるGJB2遺伝子変異による難聴症例の検討2017
- Author(s)
  石川浩太郎、西尾信哉、宇佐美真一
- Organizer
  第62回　日本聴覚医学会総会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] WFS1遺伝子変異が同定された優性遺伝形式遺伝性難聴のⅠ家系2017
- Author(s)
  石川浩太郎、西尾信哉、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例2017
- Author(s)
  北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 遺伝性難聴DFNA1の原因遺伝子DIAPH1と、その変異による難聴発症メカニズムの解明2017
- Author(s)
  北尻真一郎、二之湯弦、西尾信哉、三好拓志、鳥居紘子、西村幸司、菅原一真、坂田英明、たむけおでぃーん、坂口博史、渡邊直樹、宇佐美真一、齋藤尚亮、上山健彦
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] EYA4遺伝子変異特異的疾患ips細胞の樹立2017
- Author(s)
  松崎佐栄子、藤岡正人、細谷誠、佐伯翼、阿部聡子、西尾信哉、松永達雄、宇佐美真一、小川郁
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] EYA4遺伝子変異特異的疾患iPS細胞の樹立2017
- Author(s)
  松崎佐栄子・藤岡正人・細谷誠・佐伯翼・阿部聡子・松永達雄・宇佐美真一・小川郁
- Organizer
  第27回日本耳科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-17K19733
[Presentation] IMPROVEMENT IN JAPANESE MONOSYLLABLE PERCEPTION IN EAS PATIENTS.2017
- Author(s)
  Tsushima Y, Moteki H, Miyagawa M, Nishio S, Usami S
- Organizer
  APCSLH 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 耳鼻咽喉科領域の遺伝子診断2017
- Author(s)
  宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例2017
- Author(s)
  北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
- Organizer
  第118回日本耳鼻咽喉科学会学術講演会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] STRC遺伝子におけるコピー数変化による難聴2017
- Author(s)
  茂木英明、横田陽、岡晋一郎、西尾信哉、、山口智美、涌井敬子、宇佐美真一
- Organizer
  第62回　日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] FEASIBILITY OF HEARING PRESERVATION WITH CONVENTIONAL COCHLEAR IMPLANT AND ACOUSTIC STIMULATION FOR RESIDUAL HEARING.2017
- Author(s)
  Moteki H, Nishio S, Miyagawa M, Tsukada K, Noguchi Y, Usami S
- Organizer
  APSCI 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 次世代シーケンサーを用いたAuditory neuropathy spectrum disorderに対する遺伝子解析2017
- Author(s)
  岩佐陽一郎、西尾信哉、宇佐美真一
- Organizer
  第27回　日本耳科学会
- Data Source
  KAKENHI-PROJECT-17K11322
[Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例の臨床像2016
- Author(s)
  北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 全エキソーム解析で見出された新規難聴原因遺伝子と考えられるCDC14A遺伝子変異症例2016
- Author(s)
  吉村豪兼、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーを用いた日本人難聴患者におけるPOU4F3遺伝子変異の検討2016
- Author(s)
  北野友裕、宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing.2016
- Author(s)
  Usami S.
- Organizer
  第13回国際人類遺伝学会
- Place of Presentation
  国立京都国際会館（京都府京都市）
- Year and Date
  2016-03-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーによって見出された日本人難聴患者におけるWFS1遺伝子変異の検討2016
- Author(s)
  小林正史、宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 成人中途失聴者に対する人工内耳症例の検討2016
- Author(s)
  杉山健二郎、岡晋一郎、宮川麻衣子、鈴木宏明、鬼頭良輔、茂木英明、工　穣、野口佳裕、岩崎聡、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  盛岡グランドホテル
- Year and Date
  2016-10-19
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 次世代シーケンサーを用いた日本人難聴患者におけるPOU4F3遺伝子変異の検討2016
- Author(s)
  北野友裕、宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 難聴医療従事者に必要な遺伝子診断の知識2016
- Author(s)
  宇佐美真一
- Organizer
  第61回日本聴覚医学会総会
- Place of Presentation
  盛岡グランドホテル
- Year and Date
  2016-10-19
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーを用いた日本人症候群性難聴の遺伝子解析2016
- Author(s)
  出浦美智恵、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 難聴に対する遺伝学的診断の検討2016
- Author(s)
  佐久間直子、茂木英明、高橋優宏、荒井康裕、西尾信哉、折舘伸彦、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーによって見出された日本人難聴患者におけるWFS1遺伝子変異の検討2016
- Author(s)
  小林正史、宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 難聴の遺伝子診断の臨床応用2016
- Author(s)
  西尾信哉、宇佐美真一
- Organizer
  第78回耳鼻咽喉科臨床学会
- Place of Presentation
  城山観光ホテル（鹿児島市）
- Year and Date
  2016-06-23
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] HOXA2変異によるアブミ骨奇形を呈する常染色体優性遺伝性混合性難聴2016
- Author(s)
  野口佳裕、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 当科データベースにおける次世代シーケンサーを用いたOTOF遺伝子の変異解析2016
- Author(s)
  岩佐陽一郎、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  長野市ホテル国際２１
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-26861364
[Presentation] 次世代シーケンサーをベースにした19遺伝子154変異の難聴遺伝学的検査2016
- Author(s)
  森健太郎、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 内耳研究に魅せられて：形態学から遺伝子研究まで2016
- Author(s)
  宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 先天性難聴の遺伝子診断における遺伝子コピー数変化（Copy Number Variation）同定の試み2016
- Author(s)
  茂木英明、宮川麻衣子、宇佐美真一
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.2016
- Author(s)
  Nishio S, Takumi Y, Yoshimura H, Usami S.
- Organizer
  ARO 39th MidWinter Metting
- Place of Presentation
  San Diego, California, USA
- Year and Date
  2016-02-22
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25670715
[Presentation] 残存聴力活用型人工内耳（EAS: Electric Acoustic Stimulation）における残存聴力と聴取成績2016
- Author(s)
  茂木英明、宮川麻衣子、西尾信哉、塚田景大、工　穣、岩崎聡、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 人工内耳装用患者の遺伝学的背景とその装用成績2016
- Author(s)
  宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan.2016
- Author(s)
  Nishio S, Usami S.
- Organizer
  第13回国際人類遺伝学会
- Place of Presentation
  京都国際会議場
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] SLC26A4遺伝子変異症例における平衡障害の検討2016
- Author(s)
  塚田景大、小林正史、森健太郎、宮川麻衣子、宇佐美真一
- Organizer
  第75回日本めまい平衡医学会総会
- Place of Presentation
  大阪国際会議場
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 当科データベースにおける次世代シーケンサーを用いたOTOF遺伝子の変異解析2016
- Author(s)
  岩佐陽一郎、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 先天性難聴の遺伝子診断における遺伝子コピー数変化（Copy Number Variation）同定の試み2016
- Author(s)
  茂木英明、宮川麻衣子、宇佐美真一
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Comprehensive vestibular functions of hereditary hearing loss patiens with GJB2 mutations.2016
- Author(s)
  Tsukada K, Fukuoka H, Usami S.
- Organizer
  29th Barany Society Meeting 2016
- Place of Presentation
  Seoul, Korea
- Year and Date
  2016-06-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 先天性難聴の遺伝学的検査ー次世代シーケンサーの臨床応用ー2016
- Author(s)
  茂木英明、西尾信哉、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 若年発症型進行性感音難聴を呈したTMPRSS3遺伝子変異例2016
- Author(s)
  笹森かおり、金城信祐、小林有美子、平海晴一、佐藤宏明、宇佐美真一
- Organizer
  第78回耳鼻咽喉科臨床学会
- Place of Presentation
  城山観光ホテル（鹿児島市）
- Year and Date
  2016-06-23
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーにより見出されたPOU4F3遺伝子変異症例の臨床像2016
- Author(s)
  北野友裕、宮川麻衣子、西尾信哉、茂木英明、野口佳裕、宇佐美真一
- Organizer
  第26回日本耳科学会
- Place of Presentation
  ホテル国際21（長野市）
- Year and Date
  2016-10-05
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 小児に対する残存聴力活用型人工内耳2016
- Author(s)
  宇佐美真一、茂木英明、宮川麻衣子
- Organizer
  第117回　日本耳鼻咽喉科学会
- Place of Presentation
  名古屋国際会議場
- Year and Date
  2016-05-18
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing.2016
- Author(s)
  Usami S.
- Organizer
  第13回国際人類遺伝学会
- Place of Presentation
  京都国際会議場
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] SLC26A4遺伝子変異症例における平衡障害の検討2016
- Author(s)
  塚田景大、小林正史、森健太郎、宮川麻衣子、宇佐美真一
- Organizer
  第75回日本めまい平衡医学会総会
- Place of Presentation
  大阪国際会議場
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Deafness gene variations in a 1,120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan.2016
- Author(s)
  Nishio S, Usami S.
- Organizer
  第13回国際人類遺伝学会
- Place of Presentation
  国立京都国際会館（京都府京都市）
- Year and Date
  2016-03-05
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 人工内耳埋め込み術を行ったCDH23複合へテロ接合体変異を有する同胞２例2016
- Author(s)
  山口智也、岡野高之、山本典行、山崎博司、西尾信哉、宇佐美真一、山口忍、近藤香菜子、石田愛、大森孝一
- Organizer
  第61回日本聴覚医学会総会
- Place of Presentation
  盛岡グランドホテル
- Year and Date
  2016-10-19
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 次世代シーケンサーによる人工内耳装用患者の原因遺伝子解析2015
- Author(s)
  宮川麻衣子、茂木英明、宇佐美真一
- Organizer
  第116回日本耳鼻咽喉科学会総会
- Place of Presentation
  東京国際フォーラム
- Year and Date
  2015-05-22
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 特発性両側性感音難聴患者に対する遺伝学的検査～次世代シーケンサーを用いた検査～2015
- Author(s)
  西尾信哉、宮川麻衣子、池園哲郎、石川浩太郎、岩崎聡、岡本牧人、小川郁、加我君孝、熊川孝三、小橋元、坂田英明、佐藤宏昭、佐野肇、曾根三千彦、高橋晴雄、武田英彦、東野哲也、内藤泰、中川尚志、西崎和則、野口佳裕、羽藤直人、原　晃、福田諭、松永達雄、山岨達也、宇佐美真一
- Organizer
  第60回　日本聴覚医学会総会・学術講演会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-22
- Data Source
  KAKENHI-PROJECT-25462633
[Presentation] Benefit of Genetic Testing for Cochlear Implantation Cadidates.2015
- Author(s)
  Usami SI, Miyagawa M, Nishio SY, Moteki H
- Organizer
  2015 Annual CORLAS Meeting
- Place of Presentation
  Palace Hotel, San Francisco USA
- Year and Date
  2015-08-25
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 一側性高度感音難聴に対して人工内耳埋め込み術を施行した２症例～術後経過と使用状況の関連性について2015
- Author(s)
  鬼頭良輔、茂木英明、宇佐美真一、岩崎聡
- Organizer
  第25回日本耳科学会総会・学術講演会
- Place of Presentation
  長崎ブリックホール（長崎県長崎市）
- Year and Date
  2015-10-07
- Data Source
  KAKENHI-PROJECT-25861543
[Presentation] 次世代シーケンサーによる人工内耳装用患者の遺伝子解析2015
- Author(s)
  宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第10回　日本小児耳鼻咽喉科学会総会・学術講演会
- Place of Presentation
  軽井沢プリンスホテル
- Year and Date
  2015-05-09
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 次世代シーケンスの臨床応用～先天性難聴、遺伝性結合組織疾患のパネル解析を中心に～2015
- Author(s)
  宇佐美真一
- Organizer
  第39回日本遺伝カウンセリング学術集会
- Place of Presentation
  三井ガーデンホテル千葉（千葉県千葉市）
- Year and Date
  2015-06-28
- Invited
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 優性遺伝形式をとる遺伝性難聴76家系に対する遺伝学的解析2015
- Author(s)
  岩佐陽一郎、西尾信哉、宇佐美真一
- Organizer
  第25回日本耳科学会
- Place of Presentation
  長崎ブリックホール（長崎県長崎市）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-25462633
[Presentation] 日本人難聴患者におけるSLC17A8遺伝子の解析2015
- Author(s)
  横田陽、宮川麻衣子、茂木英明、西尾信哉、小口智啓、宇佐美真一
- Organizer
  第4回　耳鼻咽喉科フロンティアカンファレンス
- Place of Presentation
  グランドホテル大雪、旭川
- Year and Date
  2015-09-05
- Data Source
  KAKENHI-PROJECT-25861542
[Presentation] 次世代シーケンサーを用いた日本人難聴患者1120例の網羅的遺伝子解析2015
- Author(s)
  西尾信哉、宮川麻衣子、内藤武彦、岩佐陽一郎、市瀬彩、宇佐美真一
- Organizer
  第25回日本耳科学会
- Place of Presentation
  長崎ブリックホール（長崎県長崎市）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-25462633
[Presentation] 難聴の遺伝子診断とその社会的貢献2015
- Author(s)
  宇佐美真一
- Organizer
  第116回日本耳鼻咽喉科学会総会
- Place of Presentation
  東京国際フォーラム（東京都千代田区）
- Year and Date
  2015-05-22
- Invited
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] Importance of Genetic Testing for Cochlear Implantation Candidate2015
- Author(s)
  Usami S.
- Organizer
  10th　APSCI 2015
- Place of Presentation
  北京、中国
- Year and Date
  2015-05-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H02565
[Presentation] 成人人工内耳装用者の遺伝的背景～若年発症型両側性感音難聴患者との関連性について～2015
- Author(s)
  宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第60回　日本聴覚医学会総会•学術講演会
- Place of Presentation
  京王プラザホテル（東京）
- Year and Date
  2015-10-22
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 日本人難聴遺伝子変異データベースの構築と臨床応用2015
- Author(s)
  西尾信哉、宇佐美真一
- Organizer
  NGS Field 4th Meeting
- Place of Presentation
  エポカルつくば（茨城県つくば市）
- Year and Date
  2015-07-02
- Data Source
  KAKENHI-PROJECT-25462633
[Presentation] Comprehensive genetic screening of hearing loss for efficient clinical molecular diagnosis.2013
- Author(s)
  Nishio S, Naito T, Miyagawa M, Usami S.
- Organizer
  Life Technologies Asia Pacific Japan 2013 Genetic Analysis Summit
- Place of Presentation
  Bali
- Invited
- Data Source
  KAKENHI-PROJECT-25462633
[Presentation] Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort; genotype-phenotype correlations and a founder mutation.2013
- Author(s)
  Naito T, Nishio S, Usami S
- Organizer
  9th Molecular Biology of Hearing and Deafness Conference
- Place of Presentation
  Stanford University
- Data Source
  KAKENHI-PROJECT-25462633
[Presentation] OTOF mutation screening in Japanese severe to profound recessive hearing loss patients2013
- Author(s)
  Iwasa Y, Suzuki H, Usami S
- Organizer
  12th Taiwan-Japan Conference on Otolaryngology Head and Neck surgery
- Place of Presentation
  Taiwan University Hospital
- Data Source
  KAKENHI-PROJECT-25861544
[Presentation] OTOF遺伝子変異によるAuditory neuropathy症例の臨床像と人工内耳の効果に関する検討2013
- Author(s)
  岩佐陽一郎、吉村豪兼、工　穣、宇佐美真一
- Organizer
  第8回　日本小児耳鼻咽喉科学会総会
- Place of Presentation
  前橋
- Data Source
  KAKENHI-PROJECT-25861544
[Presentation] 難聴のパーソナル医療:遺伝子診断から人工内耳まで2012
- Author(s)
  宇佐美真一
- Organizer
  第36回日本遺伝カウンセリング学会
- Place of Presentation
  信大附属病院外来棟 4F
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Mutation spectrum and clinical characteristics of hearing loss patients caused by SLC26A4 mutations: a large cohort study.2012
- Author(s)
  iyagawa M,Nishio S,Fukuoka H, Tsukada K, Usami S
- Organizer
  27th Barany Society Meeting
- Place of Presentation
  Uppsala,Sweden
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 微小重力環境における内耳末梢前庭器の遺伝子発現解析2012
- Author(s)
  工　穣、小口智啓、鈴木伸嘉、宇佐美真一
- Organizer
  第71回日本めまい平衡医学会総会
- Place of Presentation
  学術総合センター（東京）
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] 難聴の遺伝子診断の進歩と臨床応用2012
- Author(s)
  宇佐美真一
- Organizer
  第116回日本眼科学会総会
- Place of Presentation
  東京国際フォーラム
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 次世代シーケンサーによる難聴の遺伝子解析（1）～方法論および変異検出アルゴリズムについて～2012
- Author(s)
  西尾信哉、宮川麻衣子、内藤武彦、宇佐美真一
- Organizer
  第22回日本耳科学会総会
- Place of Presentation
  名古屋国際会議場
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 難聴のパーソナル医療：遺伝子診断から人工内耳まで2012
- Author(s)
  宇佐美真一
- Organizer
  第36回　日本遺伝カウンセリング学会
- Place of Presentation
  信州大学（松本市）
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] ミトコンドリア遺伝子全領域シーケンスによる難聴の遺伝子解析2012
- Author(s)
  矢野卓也、西尾信哉、宇佐美真一
- Organizer
  第22回日本耳科学会総会
- Place of Presentation
  名古屋国際会議場
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] MYO15A 遺伝子変異を認めた両側高度感音難聴の1症例2012
- Author(s)
  矢野卓也、小林有美子、佐藤宏明、宇佐美真一
- Organizer
  第74回耳鼻咽喉科臨床学会
- Place of Presentation
  東京ドームホテル
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Mutation spectrum and clinical characteristics of hearing loss patients caused by SLC26A4 mutations: a large cohort study2012
- Author(s)
  Miyagawa M,Nishio S,Fukuoka H, Tsukada K, Usami S.
- Organizer
  27th Barany Society Meeting
- Place of Presentation
  Uppsala,Sweden
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 日本人高度感音難聴患者における OTOF 遺伝子変異の頻度の検討2012
- Author(s)
  岩佐陽一郎、宇佐美真一
- Organizer
  第113回日本耳鼻咽喉科学会総会・学術講演会
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] The effect of microgravity on gene expression in the vestibular end-organs. Otoconin 90 was up-regulated by microgravity.2012
- Author(s)
  Oguchi T, Nishio S, Suzuki N, Takumi Y, Usami S
- Organizer
  27th Barany Society Meeting
- Place of Presentation
  Uppsala,Sweden
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] Genetics and presbycusis2012
- Author(s)
  Usami S
- Organizer
  Presbycusis Reseach Meetings 2012
- Place of Presentation
  ミュンヘン/ドイツ
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 次世代シーケンサーによる難聴の遺伝子解析(1)～方法論および変異検出アルゴリズムについて～2012
- Author(s)
  西尾信哉、宮川麻衣子、内藤武彦、宇佐美真一
- Organizer
  第22回日本耳科学会総会
- Place of Presentation
  名古屋国際会議場
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 微小重力環境における内耳末梢前庭器の遺伝子発現解析2012
- Author(s)
  工穣、小口智啓、鈴木伸嘉、宇佐美真一
- Organizer
  第71回日本めまい平衡医学会
- Place of Presentation
  東京
- Year and Date
  2012-11-29
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] サリチル酸がペンドリンH723R変異ノックインマウスの聴覚に与える影響2012
- Author(s)
  池原　康裕, 小山　眞, 村越道生, 池田怜吉, 中谷和弘, 橋本繁成, 西尾信哉, 工穣, 大島猛史, 宇佐美真一, 小林俊光, 和田　仁
- Organizer
  第24回バイオエンジニアリング講演会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23592473
[Presentation] 次世代シーケンサーによる難聴の遺伝子解析（2）～見出された原因遺伝子および表現型について～2012
- Author(s)
  宮川麻衣子、内藤武彦、西尾信哉、宇佐美真一
- Organizer
  第22回日本耳科学会総会
- Place of Presentation
  名古屋国際会議場
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 次世代シーケンサーによる難聴の遺伝子解析(2)～見出された原因遺伝子および表現型について～2012
- Author(s)
  宮川麻衣子、内藤武彦、西尾信哉、宇佐美真一
- Organizer
  第22回日本耳科学会総会
- Place of Presentation
  名古屋国際会議場
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 微小重力環境における内耳末梢前庭器の遺伝子発現解析2012
- Author(s)
  工穣、小口智啓、鈴木伸嘉、西尾信哉、宇佐美真一
- Organizer
  第1回耳鼻咽喉科フロンティアカンファレンス
- Place of Presentation
  旭川
- Year and Date
  2012-09-15
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] 難治性内耳疾患の遺伝子バンクプロジェクトの現況(メニエール病患者におけるSNPs関連解析)2011
- Author(s)
  福岡久邦、西尾信哉、鬼頭良輔、小口智啓、宇佐美真一、渡辺行雄
- Organizer
  前庭機能異常に関する調査研究班会議
- Year and Date
  2011-01-22
- Data Source
  KAKENHI-PROJECT-20791188
[Presentation] Genetics markers and hearing preservation2011
- Author(s)
  Shin-ichi Usami
- Organizer
  Collegium Oto-Rhino-laryngologium Amicitiae Sacrum
- Place of Presentation
  ベルギー
- Year and Date
  2011-09-05
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] The genetic background of the patients with cochlear implantation2011
- Author(s)
  Usami S
- Organizer
  The 8th Asia Pacific Symposium on Cochlear Implant and Related science(APSCI 2011)
- Place of Presentation
  Korea
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Effects of salicylate on sensorineural hearing loss in Pendred syndrome2011
- Author(s)
  Ikehara Y, Koyama S, Murakoshi M, Ikeda R, Nakaya K, Hashimoto S, Nishio S, Takumi Y, Oshima T, Usami S, Kobayashi T, Wada H
- Organizer
  The 5th East Asian Pacific Student Workshop on Nano-Biomedical Engineering
- Place of Presentation
  シンガポール
- Data Source
  KAKENHI-PROJECT-23592473
[Presentation] he effect of Microgravity on mRNA Expression in the Vestibular Endorgans : Comparison of the 90days and 15days space flight2011
- Author(s)
  Takumi Y, Oguchi T, Suzuki N, Nishio S, Boyle R. Usami S. T
- Organizer
  8th Symposium on the Role of the Vestibular Organs in Space Explorartion
- Place of Presentation
  ヒューストン
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] 難聴の遺伝子解析と臨床応用に関する研究2011
- Author(s)
  Usami S
- Organizer
  北京国際耳科学会
- Place of Presentation
  北京/中国
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 難治性内耳疾患の遺伝子バンクプロジェクトの現況(メニエール病患者におけるSNPs関連解析)2011
- Author(s)
  福岡久邦、西尾信哉、鬼頭良輔、小口智啓、宇佐美真一、渡辺行雄
- Organizer
  平成22年度前庭機能異常に関する調査研究班研究成果報告会
- Place of Presentation
  東京
- Year and Date
  2011-01-22
- Data Source
  KAKENHI-PROJECT-20791188
[Presentation] 先進医療「先天性難聴の遺伝子診断」の現状2011
- Author(s)
  工穣、岩佐陽一郎、吉村豪兼、矢野卓也、内藤武彦、宮川麻衣子、茂木英明、西尾信哉、宇佐美真一
- Organizer
  第56回日本聴覚医学会総会・学術講演会
- Place of Presentation
  福岡
- Year and Date
  2011-10-27
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Genetic markers and hearing preservation Collegium2011
- Author(s)
  Usami S
- Organizer
  Oto-Rhino-laryngologium Amicitiae Sacrum
- Place of Presentation
  ベルギー
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 微重力環境が末梢前庭の遺伝子発現に及ぼす影響2011
- Author(s)
  小口智啓、矢野卓也、西尾信哉、鈴木伸嘉、工　穣、宇佐美　真一
- Organizer
  第112回日本耳鼻咽喉科学会総会・講演会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] The effect of Microgravity on mRNA Expression in the Vestibular Endorgans:Comparison of the 90days and 15days space flight.2011
- Author(s)
  Takumi Y. Oguchi T. Suzuki N. Nishio S. Boyle R. Usami S.
- Organizer
  8th Symposium on the Role of the Vestibular Organs in Space Explorartion
- Place of Presentation
  ヒューストン
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] サリチル酸がC57BL/6マウスの聴覚に与える影響2011
- Author(s)
  池原　康裕, 小山　眞, 村越道生, 池田怜吉, 中谷和弘, 橋本繁成, 西尾信哉, 工穣, 大島猛史, 宇佐美真一, 小林俊光, 和田　仁
- Organizer
  第22回バイオフロンティア講演会
- Place of Presentation
  津
- Data Source
  KAKENHI-PROJECT-23592473
[Presentation] 難聴の遺伝子解析と臨床応用に関する研究2011
- Author(s)
  Shin-ichi Usami
- Organizer
  北京国際耳科学会
- Place of Presentation
  北京(招待講演)
- Year and Date
  2011-08-04
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] The effect of Microgravity on Gene Expression in the Vestibular Endorgans.2011
- Author(s)
  Oguchi T. Suzuki N. Takumi Y. Usami S.
- Organizer
  8th Symposium on the Role of the Vestibular Organs in Space Explorartion
- Place of Presentation
  ヒューストン
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] Genetic diagnosis of Japanese congenital deafness using Invader assay2011
- Author(s)
  Yutaka Takumi, Shinichi Usami
- Organizer
  11^<th> Japan-Taiwan Conference on Otolaryngology-Head and Neck Surgery
- Place of Presentation
  神戸
- Year and Date
  2011-12-08
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 人工内耳の新しい流れ: EAS と低侵襲手術2011
- Author(s)
  宇佐美真一
- Organizer
  第21回日本耳科学会総会
- Place of Presentation
  沖縄コンベンションセンター
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 日本人難聴患者に見出されたSLC26A4遺伝子変異のスペクトラム2011
- Author(s)
  宮川麻衣子、西尾信哉、鈴木宏明、宇佐美真一
- Organizer
  第21回日本耳科学会総会
- Place of Presentation
  沖縄
- Year and Date
  2011-11-25
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] The genetic background of the patients with cochlear implantation2011
- Author(s)
  Shin-ichi Usami
- Organizer
  The 8th Asia Pacific Symposium on Cochlear Implant and Related science (APSCI 2011)
- Place of Presentation
  韓国
- Year and Date
  2011-10-26
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Genetics markers and hearing preservation with Japanese children.13th Symposium on Cochlear2011
- Author(s)
  Usami S
- Organizer
  Implants Children
- Place of Presentation
  シカゴ/アメリカ
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Achievement of hearing preservation in the presence of an electrode covering the residual hearing region.2011
- Author(s)
  Usami S
- Organizer
  The 8th Asia Pacific Symposium on Cochlear Implant and Related science(APSCI 2011)
- Place of Presentation
  Korea
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] The effect of Microgravity on Gene Expression in the Vestibular Endorgans2011
- Author(s)
  Oguchi T, Suzuki N, Takumi Y, Usami S
- Organizer
  8th Symposium on the Role of the Vestibular Organs in Space Explorartion
- Place of Presentation
  ヒューストン
- Data Source
  KAKENHI-PROJECT-23592478
[Presentation] 信州大学における難聴医療の現況2011
- Author(s)
  宮川麻衣子、茂木英明、工穣、宇佐美真一
- Organizer
  第73回耳鼻咽喉科臨床学会
- Place of Presentation
  松本
- Year and Date
  2011-06-23
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Genetics markers and hearing preservation with Japanese children2011
- Author(s)
  Shin-ichi Usami
- Organizer
  13th Symposium on Cochlear Implants Children
- Place of Presentation
  シカゴ
- Year and Date
  2011-07-14
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Gene expression pattern after insertion of dexamethasone eluting electrode2010
- Author(s)
  Usami S
- Organizer
  HEARING PRESERVATION WORKSHOP IX
- Place of Presentation
  MIAMI,FLORIDA/アメリカ
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 福島邦博先進医療(先天性難聴の遺伝子診断)の現況2010
- Author(s)
  宇佐美真一、熊川孝三、東野哲也
- Organizer
  第111回日本耳鼻咽喉科科学会総会・学術講演会
- Place of Presentation
  仙台国際センター
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] The responsible genes for Japanese deafness patients and clinical application using Invader assay2010
- Author(s)
  Usami S
- Organizer
  2nd East Asian Symposium in Otology
- Place of Presentation
  国立台湾大学/台湾
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] WFS1変異による難聴患者の遺伝子解析と臨床像2010
- Author(s)
  福岡久邦、橋本繁成、西尾信哉、工穣、宇佐美真一
- Organizer
  優性遺伝形式をとる遺伝性難聴に関する調査研究班会議
- Place of Presentation
  東京
- Year and Date
  2010-02-28
- Data Source
  KAKENHI-PROJECT-20791188
[Presentation] 内耳におけるコラーゲン遺伝子バリアントのプロファイリング2010
- Author(s)
  菊池安剛、鈴木伸嘉、橋本繁成、工穣、宇佐美真一
- Organizer
  第20回日本耳科学会総会・学術講演会
- Year and Date
  2010-10-07
- Data Source
  KAKENHI-PROJECT-20591977
[Presentation] 遺伝性難聴2010
- Author(s)
  宇佐美真一
- Organizer
  日本人類遺伝学会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] Gene-related hearing loss and cochlear implantation in Japan2010
- Author(s)
  Usami S
- Organizer
  シーボルト記念シンポジウム
- Place of Presentation
  長崎大学
- Data Source
  KAKENHI-PROJECT-22249057
[Presentation] 老化促進モデルマウス(SAMP1)の内耳におけるマイクロRNAの発現2009
- Author(s)
  西尾信哉、橋本繁成、鈴木伸嘉、工穣、宇佐美真一
- Organizer
  第19回日本耳科学会総会・学術講演会
- Year and Date
  2009-10-09
- Data Source
  KAKENHI-PROJECT-20791187
[Presentation] 老化促進モデルマウス(SAMP1)の内耳におけるマイクロRNAの発現2009
- Author(s)
  西尾信哉、橋本繁成、鈴木伸嘉、工穣、宇佐美真一
- Organizer
  第24回老化促進モデルマウス(SAM)研究協議会
- Year and Date
  2009-07-09
- Data Source
  KAKENHI-PROJECT-20791187
[Presentation] 舌癌T1-2N0症例の後発リンパ節転移の検討2009
- Author(s)
  鈴木宏明、海沼和幸、我妻道生、宇佐美真一
- Organizer
  第33回日本頭頸部癌学会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-19791203
[Presentation] SNP frequency in COCH is involved in Age-Related Hearing Impairment in aged Japanese2009
- Author(s)
  Shigenari Hashimoto, Shinshu University Gene Research Consortium, NPO JTR, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami
- Organizer
  「運動・遺伝子・予防医療」第3回国際シンポジウム
- Place of Presentation
  松本
- Year and Date
  2009-03-16
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] 当科における大唾液腺癌の検討2009
- Author(s)
  海沼和幸、鈴木宏明、我妻道生、宇佐美真一
- Organizer
  第33回日本頭頸部癌学会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-19791203
[Presentation] SNP frequency in COCH is involved in Age-Related Hearing Impairment in aged Japanese2009
- Author(s)
  Hashimoto S, Shinshu University Gene Research Consortium, NPO JTR, Nishio S, Takumi Y, Usami S
- Organizer
  第3回運動・遺伝子・予防医療国際シンポジウム
- Place of Presentation
  松本
- Year and Date
  2009-03-16
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] SAMP1の内耳における遺伝子発現について2008
- Author(s)
  鈴木伸嘉, 橋本繁成, 森政之, 樋口京一, 宇佐美真一
- Organizer
  老化促進モデルマウス(SAM)研究協議会第23回研究発表会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-19791202
[Presentation] 日本人難聴患者に見出されたTECTA遺伝子変異についての検討2008
- Author(s)
  茂木英明, 塚田景大, 橋本繁成, 工穣, 宇佐美真一
- Organizer
  第18回日本耳科学会総会
- Place of Presentation
  神戸
- Year and Date
  2008-10-18
- Data Source
  KAKENHI-PROJECT-20591977
[Presentation] 老人性難聴における遺伝的素因の検討 : セカンドコホートでの解析およびプロモーター領域の検討2008
- Author(s)
  橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
- Organizer
  第18回日本耳科学会総会
- Place of Presentation
  神戸
- Year and Date
  2008-10-18
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] 遺伝子と脳機能が評価できた先天性難聴症例2008
- Author(s)
  茂木英明, 鬼頭良輔, 菊池景子, 工穣, 宇佐美真一, 内藤泰, 前田麻貴, 北野庸子
- Organizer
  第53回日本聴覚医学会総会
- Place of Presentation
  東京
- Year and Date
  2008-10-02
- Data Source
  KAKENHI-PROJECT-19659435
[Presentation] 老人性難聴における遺伝的素因の検討 : セカンドコホートでの解析およびプロモーター領域の検討2008
- Author(s)
  橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
- Organizer
  第18回日本耳科学会総会
- Place of Presentation
  神戸
- Year and Date
  2008-10-17
- Data Source
  KAKENHI-PROJECT-20591977
[Presentation] 舌骨原発軟骨肉腫の1例2008
- Author(s)
  海沼和幸、鬼頭良輔、宇佐美真一
- Organizer
  第70回耳鼻咽喉科臨床学会
- Place of Presentation
  長崎
- Data Source
  KAKENHI-PROJECT-19791203
[Presentation] SAMP1の内耳における遺伝子発現について2008
- Author(s)
  鈴木伸嘉, 橋本繁成, 森政之, 樋口京一, 宇佐美真一
- Organizer
  第31回日本基礎老化学会
- Place of Presentation
  長野
- Data Source
  KAKENHI-PROJECT-19791202
[Presentation] 日本人難聴患者に見出されたTECTA遺伝子変異についての検討2008
- Author(s)
  茂木英明, 塚田景大, 橋本繁成, 浅村賢二, 工穣, 宇佐美真一
- Organizer
  第18回日本耳科学会総会
- Place of Presentation
  神戸
- Year and Date
  2008-10-17
- Data Source
  KAKENHI-PROJECT-18791199
[Presentation] 老人性難聴における遺伝的素因の検討 : セカンドコホートでの解析およびプロモーター領域の検討2008
- Author(s)
  橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
- Organizer
  第回18日本耳科学会総会
- Place of Presentation
  神戸
- Year and Date
  2008-10-18
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] SNP frequency in COCH is involved in Age-Related Hearing Impairment in aged Japanese2007
- Author(s)
  橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
- Organizer
  国際老人性難聴会議
- Place of Presentation
  ベルギー
- Year and Date
  2007-05-23
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] 耳下腺良性腫瘍の術後顔面神経麻痺に関する検討2007
- Author(s)
  海沼和幸、塚田景大、鈴木宏明、浅村賢二、宇佐美真一
- Organizer
  第31回日本頭頸部癌学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19791203
[Presentation] SAMの内耳における遺伝子発現について2007
- Author(s)
  鈴木伸嘉, 橋本繁成, 工穣, 宇佐美真一
- Organizer
  第22回老化促進モデルマウス(SAM)研究協議会
- Place of Presentation
  山形
- Year and Date
  2007-07-26
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] 老人性難聴における遺伝的因子の関与について-老人性難聴候補遺伝子のSNP遺伝子型と聴力との相関解析-2007
- Author(s)
  橋本繁成, 鈴木伸嘉, 工穣, 宇佐美真一
- Organizer
  第17回日本耳科学会
- Place of Presentation
  福岡
- Year and Date
  2007-10-19
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] Gene expression profiles in the cochlea of the senescence-accelerated mouse (SAM)2007
- Author(s)
  鈴木伸嘉, 橋本繁成, 工穣, 宇佐美真一
- Organizer
  国際老人性難聴会議
- Place of Presentation
  ベルギー
- Year and Date
  2007-05-25
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] SAM の内耳における遺伝子発現について2007
- Author(s)
  鈴木伸嘉, 橋本繁成, 工穣, 宇佐美真一
- Organizer
  第17回日本耳科学会
- Place of Presentation
  福岡
- Year and Date
  2007-10-18
- Data Source
  KAKENHI-PROJECT-17390459
[Presentation] 長野県における軽度・中等度難聴児補聴器購入助成事業の現状
- Author(s)
  鈴木伸嘉、宇佐美真一
- Organizer
  小児耳鼻咽喉科学会
- Place of Presentation
  アクトシティ浜松・浜松市・静岡県
- Year and Date
  2014-06-06 – 2014-06-07
- Data Source
  KAKENHI-PROJECT-26861366
[Presentation] 保険収載後の難聴遺伝子診断の現況
- Author(s)
  宮川麻衣子、西尾信哉、宇佐美真一
- Organizer
  第9回日本小児耳鼻咽喉科学会
- Place of Presentation
  アクトシティ浜松・浜松市・静岡県
- Year and Date
  2014-06-06 – 2014-06-07
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] The Effect of Microgravity on mRNA Expression in the Vestibular Endorgans: Comparison of the 90-day and 15-day Space Flight.
- Author(s)
  Takumi Y, Oguchi T, Suzuki N, Nishio S, Boyle R, Usami S.
- Organizer
  Inner Ear Biology Workshop
- Place of Presentation
  京都国際会議場・京都
- Year and Date
  2014-11-01 – 2014-11-04
- Data Source
  KAKENHI-PROJECT-26506007
[Presentation] 補聴器適合検査の指針（2010）における検査結果の変化
- Author(s)
  鈴木伸嘉、宇佐美真一
- Organizer
  聴覚医学会
- Place of Presentation
  海峡メッセ下関・下関市・山口県
- Year and Date
  2014-11-27 – 2014-11-28
- Data Source
  KAKENHI-PROJECT-26861366
[Presentation] 次世代シーケンサーを用いて見出されたTMPRSS3遺伝子変異症例ー臨床像とEAS術後成績の検討ー
- Author(s)
  宮川麻衣子、宇佐美真一
- Organizer
  第76回耳鼻咽喉科臨床学会
- Place of Presentation
  盛岡グランドホテル・盛岡・岩手県
- Year and Date
  2014-06-26 – 2014-06-27
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 次世代シーケンサーを用いた残存聴力活用型人工内耳装用患者の遺伝子解析
- Author(s)
  宮川麻衣子、西尾信哉、塚田景大、茂木英明、宇佐美真一
- Organizer
  第24回日本耳科学会
- Place of Presentation
  朱鷺メッセ・新潟・新潟県
- Year and Date
  2014-10-05 – 2014-10-08
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] 次世代シーケンサーを用いて見出されたTMPRSS3遺伝子変異症例ー臨床像と残存聴力活用型人工内耳術後成績の検討ー
- Author(s)
  宮川麻衣子、西尾信哉、塚田景大、茂木英明、宇佐美真一
- Organizer
  第59回日本聴覚医学会
- Place of Presentation
  海峡メッセ下関・下関・山口県
- Year and Date
  2014-11-27 – 2014-11-28
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Massively Parallel DNA Sequencing Successfully Identifies New Causative TMPRSS3 Mutations in patients with EAS.
- Author(s)
  Miyagawa M, Nishio S, Tsukada K, Moteki H, Usami S.
- Organizer
  Inner Ear Biology Workshop
- Place of Presentation
  京都国際会議場・京都・京都府
- Year and Date
  2014-11-01 – 2014-11-04
- Data Source
  KAKENHI-PROJECT-26861365
[Presentation] Microarray Analysis of Tonotopic Gene Expression Patterns in the Mouse Cochlea
- Author(s)
  Yosimura H, Nishio S, Takumi Y, Iwasa Y, Usami S.
- Organizer
  Inner Ear Biology Workshop
- Place of Presentation
  京都国際会議場
- Year and Date
  2014-11-01 – 2014-11-04
- Data Source
  KAKENHI-PROJECT-25670715

1. NISHIO Shinya (70467166)

# of Collaborated Projects: 25 results

# of Collaborated Products: 170 results
2. TAKUMI Yutaka (70312501)

# of Collaborated Projects: 8 results

# of Collaborated Products: 45 results
3. HASHIMOTO Shigenari (90359729)

# of Collaborated Projects: 5 results

# of Collaborated Products: 8 results
4. SUZUKI Nobuyoshi (20377641)

# of Collaborated Projects: 5 results

# of Collaborated Products: 18 results
5. KITO Ryousuke (80419358)

# of Collaborated Projects: 4 results

# of Collaborated Products: 7 results
6. MOTEKI Hideaki (60422698)

# of Collaborated Projects: 3 results

# of Collaborated Products: 37 results
7. NAITO Takehiko (50467164)

# of Collaborated Projects: 3 results

# of Collaborated Products: 10 results
8. MIYAKAWA Maiko (60467165)

# of Collaborated Projects: 2 results

# of Collaborated Products: 49 results
9. MATUBARA Atsushi (10260407)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
10. IWASA Yohichirou (10613002)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
11. HIGUCHI Kyouichi (20173156)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
12. TSUKADA Keita (90419375)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
13. WADA Hiroshi (30111264)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
14. KOBAYASHI Toshimitsu (80133958)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
15. FUKUOKA Hisakuni (90419391)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
16. OGUCHI Tomohiro (10377640)

# of Collaborated Projects: 2 results

# of Collaborated Products: 10 results
17. SHINKAWA Hideichi (90125584)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
18. Kitajiri Shin-ichiro (00532970)

# of Collaborated Projects: 2 results

# of Collaborated Products: 15 results
19. 村越道生 (70570901)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
20. 小山眞 (10465487)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
21. 野口佳裕 (50282752)

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
22. オッターセンウレ・ペッ

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
23. ASAMURA Kenji (40377627)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
24. KAINUMA Kazuyuki (30334907)

# of Collaborated Projects: 1 results

# of Collaborated Products: 12 results
25. ISHIHARA Kenji (00312596)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
26. KUMAGAI Izumi (10161689)

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27. KUMAKAWA Kozo (40142252)

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28. SATO Hiroaki (40215827)

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29. TONO Tetsuya (80145424)

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31. NAGAI Kyoko (50302469)

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39. Ugawa Shinya (20326135)

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63. KIMBERLING W

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65. 菅原一真

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USAMI SHINICHI 宇佐美 真一

USAMI Shin-ichi 宇佐美 真一

宇佐見 真一 ウサミ シンイチ

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ヒト側頭骨病理標本アーカイブを用いた遺伝性難聴の病態解明に関する研究Principal Investigator

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Development of high throughput sequencing analysis based system for personalized medicine of deafnessPrincipal Investigator

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USAMI SHINICHI 宇佐美真一

USAMI Shin-ichi 宇佐美真一

宇佐見真一ウサミシンイチ