信州大学HOMEENGLISH交通・キャンパス案内

研究者総覧研究者総覧

研究者、研究内容などで検索
項目別検索はこちら

宇佐美 真一  ウサミ シンイチ

教員組織電話番号
教育組織医学部 医学科 人工聴覚器学(寄附講座)FAX番号
職名特任教授(寄附講座)メールアドレス
住所ホームページURL

更新日:2021/09/28

プロフィール

研究分野
難聴の診断と治療(難聴の遺伝子解析、人工内耳、中耳手術)
キーワード:遺伝子 , 難聴 , 人工内耳 , 宇宙医学
現在の研究課題
難聴の遺伝子解析

宇宙医学(内耳の神経伝達機構)

人工内耳

耳鼻咽喉科疾患の分子生物学

所属学会
所属学会
日本耳鼻咽喉科学会
日本耳科学会
日本鼻科学会
日本めまい平衡医学会
日本聴覚医学会
日本神経科学学会
"""Society for Neuroscience, The American Society of Human Genetics, Association for Research in Otolaryngology,Barany Society"""
学歴
出身学校・専攻等(大学院を除く)
1981 , 弘前大学 , 医学部

取得学位
医学博士
研究職歴等
研究職歴
1999- , 信州大学医学部 教授

研究活動業績

研究業績(著書・
発表論文等)
論文
難聴医療の進歩 : 遺伝子診断,人工内耳の将来展望
信州医学雑誌,65(6):343-353 2017(Dec. 10)
Author:茂木英明、宇佐美真一


Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.
PLoS One,11(12):e0166781 2016
Author:Iwasa Y, Nishio S, Usami S.


Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
EMBO Molecular Medicine,8(11):1310-1324 2016
Author: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.


Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
PLoS ONE,11(9):e0162230 2016
Author:Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Ann Otol Rhinol Laryngol,125(918-923) 2016
Author: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.


Discrimination of Japanese monosyllables in patients with high-frequency hearing loss.
Auris Nasus Larynx,43(269-280) 2016
Author:Karino S, Usami S, Kumakawa K, Takahashi H, Tono T, Naito Y, Doi K, Ito K, Suzuki M, Sakata H, Takumi Y, Iwasaki S, Kakigi A, Yamasoba T.


Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.
Clin Genet,89:466-472 2016
Author:Moteki H, Azaiez H, Booth K.T, Shearer A.E, Sloan C.M, Kolbe D.L, Nishio S, Hattori M, Usami S, Smith R.J.H.


An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
J Hum Genet,61(3):253-261 2016
Author:Sakuma N, Moteki H, Takahashi M, Nishio S, Arai Y, Yamashita Y, Oridate N, Usami S.


A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.
Otol Neurotol,37(2):e126-e134 2016
Author:Miyagawa M, Nishio S, Usami S.


SOD1 gene polymorphisms in sudden sensorineural hearing loss.
Acta Otolaryngol,136:465-469 2016
Author:Kitoh R, Nishio S, Ogawa K, Okamura M Kitamura K, Gyo K, Sato H, Nakashima T, Fukuda S, Fukushima K, Hara A, Yamasoba T, Usami S.


The effects of cochlear implantation in Japanese single-sided deafness patients: five case reports.
Acta Otolaryngol,136(460-464) 2016
Author:Kitoh R, Moteki H, Nishio S, Shinden S, Kanzaki S, Iwasaki S, Ogawa K, Usami S.


Correlation between White Matter Lesions and Intelligence Quptient in patients with Congenital Cytomegalovirus Infection.
Pediatr Neurol,55:52-57 2016
Author:Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio S, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.


Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
J Hum Genet,61:419-422 2016
Author:Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S.


Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population
JOURNAL OF HUMAN GENETICS,60(10):613-617 2015(Oct.)
Author:Taniguchi, Mirei; Matsuo, Hirotaka; Shimizu, Seiko; Nakayama, Akiyoshi; Suzuki, Koji; Hamajima, Nobuyuki; Shinomiya, Nariyoshi; Nishio, Shinya; Kosugi, Shinji; Usami, Shin-ichi; Ito, Juichi; Kitajiri, Shin-ichiro;


Silicone impression material foreign body in the middle ear: Two case reports and literature review
AURIS NASUS LARYNX,42(5):419-423 2015(Oct.)
Author:Suzuki, Nobuyoshi; Okamura, Koji; Yano, Takuya; Moteki, Hideaki; Kitoh, Ryosuke; Takumi, Yutaka; Usami, Shin-ichi;


Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:177S-183S 2015(May)
Author:Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Hattori, Mitsuru; Sato, Ai; Sato, Yoshihiko; Motobayashi, Mitsuo; Sloan, Christina M.; Kolbe, Diana L.; Shearer, A. Eliot; Smith, Richard J. H.; Usami, Shin-ichi;


Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:61S-76S 2015(May)
Author:Tsukada, Keita; Nishio, Shin-ya; Hattori, Mitsuru; Usami, Shin-ichi;


Mutational Spectrum and Clinical Features of Patients With ACTG1 Mutations Identified by Massively Parallel DNA Sequencing
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:84S-93S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Ichinose, Aya; Iwasaki, Satoshi; Murata, Takaaki; Kitajiri, Shin-ichiro; Usami, Shin-ichi;


Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:49S-60S 2015(May)
Author:Nishio, Shin-ya; Usami, Shin-ichi;


Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:77S-83S 2015(May)
Author:Yoshimura, Hidekane; Hashimoto, Takao; Murata, Toshinori; Fukushima, Kunihiro; Sugaya, Akiko; Nishio, Shin-ya; Usami, Shin-ichi;


Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:94S-99S 2015(May)
Author:Yoshimura, Hidekane; Oshikawa, Chie; Nakayama, Jun; Moteki, Hideaki; Usami, Shin-ichi;


De Novo Mutation in X-Linked Hearing Loss-Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:169S-176S 2015(May)
Author:Moteki, Hideaki; Shearer, A. Eliot; Izumi, Shuji; Kubota, Yamato; Azaiez, Hela; Booth, Kevin T.; Sloan, Christina M.; Kolbe, Diana L.; Smith, Richard J. H.; Usami, Shin-ichi;


Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:6S-48S 2015(May)
Author:Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Naito, Takehiko; Yoshimura, Hidekane; Iwasa, Yoh-ichiro; Mori, Kentaro; Shima, Yutaka; Sakuma, Naoko; Usami, Shin-ichi;


The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:193S-204S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Sakurai, Yuika; Hattori, Mitsuru; Tsukada, Keita; Moteki, Hideaki; Kojima, Hiromi; Usami, Shin-ichi;


Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:100S-110S 2015(May)
Author:Tsukada, Keita; Ichinose, Aya; Miyagawa, Maiko; Mori, Kentaro; Hattori, Mitsuru; Nishio, Shin-ya; Naito, Yasushi; Kitajiri, Shin-ichiro; Usami, Shin-ichi;


Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:111S-117S 2015(May)
Author:Iwasa, Yoh-ichiro; Moteki, Hideaki; Hattori, Mitsuru; Sato, Ririko; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;


Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:142S-147S 2015(May)
Author:Ichinose, Aya; Moteki, Hideaki; Hattori, Mitsuru; Nishio, Shin-ya; Usami, Shin-ichi;


Germinal Mosaicism in a Family With BO Syndrome
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:118S-122S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Takumi, Yutaka; Usami, Shin-ichi;


USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:123S-128S 2015(May)
Author:Moteki, Hideaki; Yoshimura, Hidekane; Azaiez, Hela; Booth, Kevin T.; Shearer, A. Eliot; Sloan, Christina M.; Kolbe, Diana L.; Murata, Toshinori; Smith, Richard J. H.; Usami, Shin-ichi;


Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:148S-157S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;


Mutations in LOXHDI Gene Cause Various Types and Severities of Hearing Loss
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:135S-141S 2015(May)
Author:Mori, Kentaro; Moteki, Hideaki; Kobayashi, Yumiko; Azaiez, Hela; Booth, Kevin T.; Nishio, Shin-ya; Sato, Hiroaki; Smith, Richard J. H.; Usami, Shin-ichi;


Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:184S-192S 2015(May)
Author:Sakuma, Naoko; Moteki, Hideaki; Azaiez, Hela; Booth, Kevin T.; Takahashi, Masahiro; Arai, Yasuhiro; Shearer, A. Eliot; Sloan, Christina M.; Nishio, Shin-ya; Kolbe, Diana L.; Iwasaki, Satoshi; Oridate, Nobuhiko; Smith, Richard J. H.; Usami, Shin-ichi;


Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing-Based Analysis
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:158S-168S 2015(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi;


Novel Mutations in GRXCRI at DFNB25 Lead to Progressive Hearing Loss and Dizziness
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:129S-134S 2015(May)
Author:Mori, Kentaro; Miyanohara, Ikuyo; Moteki, Hideaki; Nishio, Shin-ya; Kurono, Yuichi; Usami, Shin-ichi;


Molecular Diagnosis of Deafness-A Preface
ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY,124:5S-5S 2015(May)
Author:Usami, Shin-ichi;


The advantages of sound localization and speech perception of bilateral electric acoustic stimulation
ACTA OTO-LARYNGOLOGICA,135(2):147-153 2015(Feb.)
Author:Moteki, Hideaki; Kitoh, Ryosuke; Tsukada, Keita; Iwasaki, Satoshi; Nishio, Shin-Ya; Usami, Shin-Ichi;


Vestibular Functions of Hereditary Hearing Loss Patients with GJB2 Mutations
AUDIOLOGY AND NEURO-OTOLOGY,20(3):147-152 2015
Author:Tsukada, Keita; Fukuoka, Hisakuni; Usami, Shin-ichi;


Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
GENETIC TESTING AND MOLECULAR BIOMARKERS,19(4):209-217 2015
Author:Nishio, Shin-Ya; Hayashi, Yoshiharu; Watanabe, Manabu; Usami, Shin-Ichi;


A clinical experience of 'STAMP' plate-guided Bonebridge implantation
ACTA OTO-LARYNGOLOGICA,134(10):1042-1046 2014(Oct.)
Author:Takumi, Yutaka; Matsumoto, Nozomu; Cho, Byunghyun; Ono, Hidenori; Mori, Kentaro; Tsukada, Keita; Ichinose, Aya; Yoshimura, Hidekane; Iwasaki, Satoshi; Komune, Shizuo; Usami, Shin-ichi;


Guanine nucleotide-binding protein 1 is one of the key molecules contributing to cancer cell radioresistance
CANCER SCIENCE,105(10):1351-1359 2014(Oct.)
Author:Fukumoto, Motoi; Amanuma, Tatsuya; Kuwahara, Yoshikazu; Shimura, Tsutomu; Suzuki, Masatoshi; Mori, Shiro; Kumamoto, Hiroyuki; Saito, Yohei; Ohkubo, Yasuhito; Duan, Zhenfeng; Sano, Kenji; Oguchi, Tomohiro; Kainuma, Kazuyuki; Usami, Shinichi; Kinoshita, Kengo; Lee, Inchul; Fukumoto, Manabu;


High-Frequency Involved Hearing Loss Caused by Novel Mitochondrial DNA Mutation in 16S Ribosomal RNA Gene
OTOLOGY & NEUROTOLOGY,35(6):1087-1090 2014(Jul.)
Author:Abe, Satoko; Nagano, Makoto; Nishio, Shin-ya; Kumakawa, Kozo; Usami, Shin-ichi;


Hearing preservation and clinical outcome of 32 consecutive electric acoustic stimulation (EAS) surgeries
ACTA OTO-LARYNGOLOGICA,134(7):717-727 2014(Jul.)
Author:Usami, Shin-Ichi; Moteki, Hideaki; Tsukada, Keita; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Kumakawa, Kozo; Naito, Yasushi; Takahashi, Haruo; Kanda, Yukihiko; Tono, Tetsuya;


A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations
ACTA OTO-LARYNGOLOGICA,134(6):557-563 2014(Jun.)
Author:Ishikawa, Kotaro; Naito, Takehiko; Nishio, Shin-Ya; Iwasa, Yoh-Ichiro; Nakamura, Ken-Ichi; Usami, Shin-Ichi; Ichimura, Keiichi;


Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
JOURNAL OF HUMAN GENETICS,59(5):262-268 2014(May)
Author:Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;


Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening
JOURNAL OF HUMAN GENETICS,59(2):100-106 2014(Feb.)
Author:Yano, Takuya; Nishio, Shin-ya; Usami, Shin-ichi; Deafness Gene Study Consortium;


Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,78(2):285-289 2014(Feb.)
Author:Moteki, Hideaki; Suzuki, Mika; Naito, Yasushi; Fujiwara, Keizo; Oguchi, Kazuhiro; Nishio, Shin-ya; Iwasaki, Satoshi; Usami, Shin-ichi;


Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
PLOS ONE,9(3) 2014
Author:Yoshimura, Hidekane; Iwasaki, Satoshi; Nishio, Shin-ya; Kumakawa, Kozo; Tono, Tetsuya; Kobayashi, Yumiko; Sato, Hiroaki; Nagai, Kyoko; Ishikawa, Kotaro; Ikezono, Tetsuo; Naito, Yasushi; Fukushima, Kunihiro; Oshikawa, Chie; Kimitsuki, Takashi; Nakanishi, Hiroshi; Usami, Shin-ichi;


Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis
PLOS ONE,9(3) 2014
Author:Yoshimura, Hidekane; Takumi, Yutaka; Nishio, Shin-ya; Suzuki, Nobuyoshi; Iwasa, Yoh-ichiro; Usami, Shin-ichi;


Ubiquinol-10 Supplementation Activates Mitochondria Functions to Decelerate Senescence in Senescence-Accelerated Mice
ANTIOXIDANTS & REDOX SIGNALING,20(16):2606-2620 2014
Author:Tian, Geng; Sawashita, Jinko; Kubo, Hiroshi; Nishio, Shin-ya; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Yoshimura, Hidekane; Tsuruoka, Mineko; Wang, Yaoyong; Liu, Yingye; Luo, Hongming; Xu, Zhe; Mori, Masayuki; Kitano, Mitsuaki; Hosoe, Kazunori; Takeda, Toshio; Usami, Shin-ichi; Higuchi, Keiichi;


Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
AMERICAN JOURNAL OF HUMAN GENETICS,95(4):445-453 2014
Author:Shearer, A. Eliot; Eppsteiner, Robert W.; Booth, Kevin T.; Ephraim, Sean S.; Gurrola, Jose, II; Simpson, Allen; Black-Ziegelbein, E. Ann; Joshi, Swati; Ravi, Harini; Giuffre, Angelica C.; Happe, Scott; Hildebrand, Michael S.; Azaiez, Hela; Bayazit, Yildirim A.; Erdal, Mehmet Emin; Lopez-Escamez, Jose A.; Gazquez, Irene; Tamayo, Marta L.; Gelvez, Nancy Y.; Leal, Greizy Lopez; Jalas, Chaim; Ekstein, Josef; Yang, Tao; Usami, Shin-ichi; Kahrizi, Kimia; Bazazzadegan, Niloofar; Najmabadi, Hossein; Scheetz, Todd E.; Braun, Terry A.; Casavant, Thomas L.; LeProust, Emily M.; Smith, Richard J. H.;


Gene Expression Pattern after Insertion of Dexamethasone-Eluting Electrode into the Guinea Pig Cochlea
PLOS ONE,9(10) 2014
Author:Takumi, Yutaka; Nishio, Shin-ya; Mugridge, Kenneth; Oguchi, Tomohiro; Hashimoto, Shigenari; Suzuki, Nobuyoshi; Iwasaki, Satoshi; Jolly, Claude; Usami, Shin-ichi;


A randomized controlled clinical trial of topical insulin-like growth factor-1 therapy for sudden deafness refractory to systemic corticosteroid treatment
BMC MEDICINE,12 2014
Author:Nakagawa, Takayuki; Kumakawa, Kozo; Usami, Shin-ichi; Hato, Naohito; Tabuchi, Keiji; Takahashi, Mariko; Fujiwara, Keizo; Sasaki, Akira; Komune, Shizuo; Sakamoto, Tatsunori; Hiraumi, Harukazu; Yamamoto, Norio; Tanaka, Shiro; Tada, Harue; Yamamoto, Michio; Yonezawa, Atsushi; Ito-Ihara, Toshiko; Ikeda, Takafumi; Shimizu, Akira; Tabata, Yasuhiko; Ito, Juichi;


Effects of EAS cochlear implantation surgery on vestibular function
ACTA OTO-LARYNGOLOGICA,133(11):1128-1132 2013(Nov.)
Author:Tsukada, Keita; Moteki, Hideaki; Fukuoka, Hisakuni; Iwasaki, Satoshi; Usami, Shin-ichi;


Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations
AURIS NASUS LARYNX,40(5):435-439 2013(Oct.)
Author:Yoshida, Haruo; Takahashi, Haruo; Kanda, Yukihiko; Usami, Shin-ichi;


Hearing Handicap in Adults With Unilateral Deafness and Bilateral Hearing Loss
OTOLOGY & NEUROTOLOGY,34(4):644-649 2013(Jun.)
Author:Iwasaki, Satoshi; Sano, Hajime; Nishio, Shinya; Takumi, Yutaka; Okamoto, Makito; Usami, Shin-ichi; Ogawa, Kaoru;


Prevalence of level V metastasis in head and neck squamous cell carcinoma
ACTA OTO-LARYNGOLOGICA,133(2):218-224 2013(Feb.)
Author:Kainuma, Kazuyuki; Yano, Takuya; Kitoh, Ryosuke; Naito, Takehiko; Usami, Shin-ichi;


An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,77(2):298-302 2013(Feb.)
Author:Yoshimura, Hidekane; Iwasaki, Satoshi; Kanda, Yukihiko; Nakanishi, Hiroshi; Murata, Toshinori; Iwasa, Yoh-ichiro; Nishio, Shin-ya; Takumi, Yutaka; Usami, Shin-ichi;


Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
PLOS ONE,8(5) 2013
Author:Naito, Takehiko; Nishio, Shin-ya; Iwasa, Yoh-ichiro; Yano, Takuya; Kumakawa, Kozo; Abe, Satoko; Ishikawa, Kotaro; Kojima, Hiromi; Namba, Atsushi; Oshikawa, Chie; Usami, Shin-ichi;


Pathogenic substitution of IVS15+5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
BMC MEDICAL GENETICS,14 2013
Author:Ganaha, Akira; Kaname, Tadashi; Yanagi, Kumiko; Naritomi, Kenji; Tono, Tetsuya; Usami, Shin-ichi; Suzuki, Mikio;


Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients
PLOS ONE,8(8) 2013
Author:Miyagawa, Maiko; Naito, Takehiko; Nishio, Shin-ya; Kamatani, Naoyuki; Usami, Shin-ichi;


OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
BMC MEDICAL GENETICS,14 2013
Author:Iwasa, Yoh-ichiro; Nishio, Shin-ya; Yoshimura, Hidekane; Kanda, Yukihiko; Kumakawa, Kozo; Abe, Satoko; Naito, Yasushi; Nagai, Kyoko; Usami, Shin-ichi;


Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS
PLOS ONE,8(10) 2013
Author:Miyagawa, Maiko; Nishio, Shin-ya; Ikeda, Takuo; Fukushima, Kunihiro; Usami, Shin-ichi;


Inner hair cells of mice express the glutamine transporter SAT1
HEARING RESEARCH,292(1-2):59-63 2012(Oct.)
Author:Oguchi, Tomohiro; Suzuki, Nobuyoshi; Hashimoto, Shigenari; Chaudhry, Gauhar Ayub; Chaudhry, Farrukh Abbas; Usami, Shin-ichi; Ottersen, Ole Petter;


TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
JOURNAL OF HUMAN GENETICS,57(9):587-592 2012(Sep.)
Author:Moteki, Hideaki; Nishio, Shin-ya; Hashimoto, Shigenari; Takumi, Yutaka; Iwasaki, Satoshi; Takeichi, Norihito; Fukuda, Satoshi; Usami, Shin-ichi;


Experience with the Vibrant Soundbridge RW-Coupler for round window Vibroplasty with tympanosclerosis
ACTA OTO-LARYNGOLOGICA,132(6):676-682 2012(Jun.)
Author:Iwasaki, Satoshi; Suzuki, Hiroaki; Moteki, Hideaki; Miyagawa, Maiko; Takumi, Yutaka; Usami, Shin-ichi;


Patients with CDH23 mutations and the 1555A > G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
ACTA OTO-LARYNGOLOGICA,132(4):377-384 2012(Apr.)
Author:Usami, Shin-ichi; Miyagawa, Maiko; Nishio, Shin-Ya; Moteki, Hideaki; Takumi, Yutaka; Suzuki, Mika; Kitano, Yoko; Iwasaki, Satoshi;


Language development in Japanese children who receive cochlear implant and/or hearing aid
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,76(3):433-438 2012(Mar.)
Author:Iwasaki, Satoshi; Nishio, Shinya; Moteki, Hideaki; Takumi, Yutaka; Fukushima, Kunihiro; Kasai, Norio; Usami, Shin-ichi;


Comparison of the diagnostic value of 3 T MRI after intratympanic injection of GBCA, electrocochleography, and the glycerol test in patients with Meniere's disease
ACTA OTO-LARYNGOLOGICA,132(2):141-145 2012(Feb.)
Author:Fukuoka, Hisakuni; Takumi, Yutaka; Tsukada, Keita; Miyagawa, Maiko; Oguchi, Tomohiro; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-ichi;


Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study
PLOS ONE,7(2) 2012
Author:Usami, Shin-ichi; Nishio, Shin-ya; Nagano, Makoto; Abe, Satoko; Yamaguchi, Toshikazu; Deafness Gene Study Consortium;


Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I
MOLECULAR VISION,18(176-77):1719-1726 2012
Author:Jaijo, Teresa; Oshima, Aki; Aller, Elena; Carney, Carol; Usami, Shin-ichi; Millan, Jose M.; Kimberling, William J.;


Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
PLOS ONE,7(8) 2012
Author:Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi;


The first report of bilateral retropharyngeal lymph node metastasis from papillary thyroid carcinoma and review of the literature
ACTA OTO-LARYNGOLOGICA,131(12):1341-1348 2011(Dec.)
Author:Kainuma, Kazuyuki; Kitoh, Ryosuke; Yoshimura, Hidekane; Usami, Shin-ichi;


Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations
ACTA OTO-LARYNGOLOGICA,131(11):1232-1236 2011(Nov.)
Author:Moteki, Hideaki; Naito, Yasushi; Fujiwara, Keizo; Kitoh, Ryosuke; Nishio, Shin-ya; Oguchi, Kazuhiro; Takumi, Yutaka; Usami, Shin-ichi;


Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord
ACTA OTO-LARYNGOLOGICA,131(9):976-982 2011(Sep.)
Author:Furutate, Sakiko; Iwasaki, Satoshi; Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;


Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations
JOURNAL OF HUMAN GENETICS,56(7):484-490 2011(Jul.)
Author:Nakanishi, Hiroshi; Ohtsubo, Masafumi; Iwasaki, Satoshi; Hotta, Yoshihiro; Usami, Shin-ichi; Mizuta, Kunihiro; Mineta, Hiroyuki; Minoshima, Shinsei;


IgG4-related chronic rhinosinusitis: A new clinical entity of nasal disease
ACTA OTO-LARYNGOLOGICA,131(5):518-526 2011(May)
Author:Moteki, Hideaki; Yasuo, Masanori; Hamano, Hideaki; Uehara, Takeshi; Usami, Shin-ichi;


Achievement of hearing preservation in the presence of an electrode covering the residual hearing region
ACTA OTO-LARYNGOLOGICA,131(4):405-412 2011(Apr.)
Author:Usami, Shin-Ichi; Moteki, Hideaki; Suzuki, Nobuyoshi; Fukuoka, Hisakuni; Miyagawa, Maiko; Nishio, Shin-Ya; Takumi, Yutaka; Iwasaki, Satoshi; Jolly, Claude;


Inverted papilloma of the middle ear: A case report and review of the literature
ACTA OTO-LARYNGOLOGICA,131(2):216-220 2011(Feb.)
Author:Kainuma, Kazuyuki; Kitoh, Ryosuke; Kenji, Santo; Usami, Shin-Ichi;


Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation
BMC MEDICAL GENETICS,12 2011
Author:Mutai, Hideki; Kouike, Hiroko; Teruya, Eiko; Takahashi-Kodomari, Ikuko; Kakishima, Hiroki; Taiji, Hidenobu; Usami, Shin-ichi; Okuyama, Torayuki; Matsunaga, Tatsuo;


Clinical characteristics of delayed endolymphatic hydrops in Japan: A nationwide survey by the Peripheral Vestibular Disorder Research Committee of Japan
ACTA OTO-LARYNGOLOGICA,130(10):1135-1140 2010(Oct.)
Author:Shojaku, Hideo; Watanabe, Yukio; Takeda, Noriaki; Ikezono, Tetsuo; Takahashi, Masahiro; Kakigi, Akinobu; Ito, Juichi; Doi, Katsumi; Suzuki, Mamoru; Takumida, Masaya; Takahashi, Katsumasa; Yamashita, Hiroshi; Koizuka, Izumi; Usami, Shinichi; Aoki, Mitsuhiro; Naganuma, Hideaki;


mu-Crystallin, New Candidate Protein in Endotoxin-Induced Uveitis
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,51(7):3554-3559 2010(Jul.)
Author:Imai, Hiroki; Ohta, Kouichi; Yoshida, Akiko; Suzuki, Satoru; Hashizume, Kiyoshi; Usami, Shinichi; Kikuchi, Takanobu;


Semi-quantitative evaluation of endolymphatic hydrops by bilateral intratympanic gadolinium-based contrast agent (GBCA) administration with MRI for Meniere's disease
ACTA OTO-LARYNGOLOGICA,130(1):10-16 2010(Jan.)
Author:Fukuoka, Hisakuni; Tsukada, Keita; Miyagawa, Maiko; Oguchi, Tomohiro; Takumi, Yutaka; Sugiura, Makoto; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-Ichi;


Hybrid carcinoma of the parotid gland: Report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature
ACTA OTO-LARYNGOLOGICA,130(1):185-189 2010(Jan.)
Author:Kainuma, Kazuyuki; Oshima, Aki; Suzuki, Hiroaki; Fukushima, Mana; Shimojo, Hisashi; Usami, Shin-Ichi;


Salicylate restores transport function and anion exchanger activity of missense pendrin mutations
HEARING RESEARCH,270(1-2):110-118 2010
Author:Ishihara, Kenji; Okuyama, Shuhei; Kumano, Shun; Iida, Koji; Hamana, Hiroshi; Murakoshi, Michio; Kobayashi, Toshimitsu; Usami, Shinichi; Ikeda, Katsuhisa; Haga, Yoichi; Tsumoto, Kohei; Nakamura, Hiroyuki; Hirasawa, Noriyasu; Wada, Hiroshi;


Phylogeographic history of the Japanese alpine butterfly Erebia niphonica (Lepidoptera, Nymphalidae): fragmentation and secondary contact
GENES & GENETIC SYSTEMS,84(6):486-486 2009(Dec.)
Author:Nakatani, Takatoshi; Usami, Shin-Ichi; Itoh, Tateo;


Endolymphatic hydrops and therapeutic effects are visualized in 'atypical' Meniere's disease
ACTA OTO-LARYNGOLOGICA,129(11):1326-1329 2009(Nov.)
Author:Miyagawa, Maiko; Fukuoka, Hisakuni; Tsukada, Keita; Oguchi, Tomohiro; Takumi, Yutaka; Sugiura, Makoto; Ueda, Hitoshi; Kadoya, Masumi; Usami, Shin-ichi;


Chondrosarcoma of the nasal septum: A case report
AURIS NASUS LARYNX,36(5):601-605 2009(Oct.)
Author:Kainuma, Kazuyuki; Netsu, Kiminori; Asamura, Kenji; Hayashi, Keiko; Takumi, Yutaka; Ota, Hiroyoshi; Usami, Shin-ichi;


Pivotal Advance: Eosinophilia in the MES rat strain is caused by a loss-of-function mutation in the gene for cytochrome b(-245), alpha polypeptide (Cyba)
JOURNAL OF LEUKOCYTE BIOLOGY,86(3):473-478 2009(Sep.)
Author:Mori, Masayuki; Li, Guixin; Hashimoto, Maiko; Nishio, Ayako; Tomozawa, Hiroshi; Suzuki, Nobuyoshi; Usami, Shin-ichi; Higuchi, Keiichi; Matsumoto, Kiyoshi;


Pre-Baha Operation Three Dimensional Computed Tomography With Markers for Determining Optimal Implant Site
LARYNGOSCOPE,118(10):1824-1826 2008(Oct.)
Author:Takumi, Yutaka; Suzuki, Nobuyoshi; Moteki, Hideaki; Kobayashi, Katsuhiko; Usami, Shin-ichi;


The responsible genes in Japanese deafness patients and clinical application using Invader assay
ACTA OTO-LARYNGOLOGICA,128(4):446-454 2008
Author:Usami, Shin-Ichi; Wagatsuma, Michio; Fukuoka, Hisakuni; Suzuki, Hiroaki; Tsukada, Keita; Nishio, Shinya; Takumi, Yutaka; Abe, Satoko;


Meningioma of the paranasal sinus: A case report
AURIS NASUS LARYNX,34(3):397-400 2007(Sep.)
Author:Kainuma, Kazuyuki; Takumi, Yutaka; Uehara, Takeshi; Usami, Shin-Ichi;


Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
JOURNAL OF HUMAN GENETICS,52(6):510-515 2007(Jun.)
Author:Fukuoka, Hisakuni; Kanda, Yukihiko; Ohta, Shuji; Usami, Shin-ichi;


mu-Crystallin as an intracellular 3,5,3 '-triiodothyronine holder in vivo
MOLECULAR ENDOCRINOLOGY,21(4):885-894 2007(Apr.)
Author:Suzuki, Satoru; Suzuki, Nobuyoshi; Mori, Jun-ichirou; Oshima, Aki; Usami, Shinichi; Hashizume, Kiyoshi;


Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1
ACTA OTO-LARYNGOLOGICA,127(1):98-104 2007(Jan.)
Author:Matsunaga, Tatsuo; Okada, Michiyo; Usami, Shin-Ichi; Okuyama, Torayuki;


Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations
ACTA OTO-LARYNGOLOGICA,127(12):1292-1297 2007
Author:Suzuki, Hiroaki; Oshima, Aki; Tsukamoto, Koji; Abe, Satoko; Kumakawa, Kozo; Nagai, Kyoko; Satoh, Hitoshi; Kanda, Yukihiko; Iwasaki, Satoshi; Usami, Shin-ichi;


Immunocytochemical localization of ubiquitin A-52 protein in the mouse inner ear
NEUROREPORT,18(9):869-873 2007
Author:Kitoh, Ryosuke; Oshima, Aki; Suzuki, Nobuyoshi; Hashimoto, Shigenari; Takumi, Yutaka; Usami, Shin-ichi;


Application of deafness diagnostic screening panel based on deafness Mutation/Gene database using invader assay
GENETIC TESTING,11(3):333-340 2007
Author:Abe, Satoko; Yamaguchi, Toshikazu; Usami, Shin-Ichi;


Differences in the expression of genes between normal tissue and squamous cell carcinomas of head and neck using cancer-related gene cDNA microarray
ACTA OTO-LARYNGOLOGICA,126(9):967-974 2006(Sep.)
Author:Kainuma, Kazuyuki; Katsuno, Satoshi; Hashimoto, Shigenari; Oguchi, Tomohiro; Suzuki, Nobuyoshi; Asamura, Kenji; Usami, Shin-Ichi;


A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
AMERICAN JOURNAL OF HUMAN GENETICS,79(3):449-457 2006(Sep.)
Author:Van Camp, Guy; Snoeckx, Rikkert L.; Hilgert, Nele; van den Ende, Jenneke; Fukuoka, Hisakumi; Wagatsuma, Michio; Suzuki, Hiroaki; Smets, R. M. Erica; Vanhoenacker, Filip; Declau, Frank; Van De Heyning, Paul; Usami, Shin-ichi;


Association of SLC26A4 muations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct
JOURNAL OF HUMAN GENETICS,51(9):805-810 2006(Sep.)
Author:Iwasaki, Satoshi; Tsukamoto, Koji; Usami, Shinichi; Misawa, Kiyoshi; Mizuta, Kunihiro; Mineta, Hiroyuki;

研究費
科学研究費補助金(研究代表者)
2015 - 2017 , 遺伝子解析に基づいた難聴発症メカニズムの解明および個別化医療システムの構築 , 基盤研究(A)
2015 - 2017 , 科学的エビデンスに基づいた遺伝性難聴の治療法確立に関する調査研究 , 難治性疾患実用化研究事業
2014 - 2016 , 難治性聴覚障害に関する調査研究 , 難治性疾患政策研究事業
2013 - 2015 , 新しい難聴遺伝子診断システムの開発および臨床応用に関する研究 , 障害者対策総合研究事業
2012 - 2013 , 高度医療残存聴力活用型人工内耳挿入術の適応症および有効性、安全性に関する , 医療技術実用化総合研究事業
2012 - 2013 , 遺伝性難聴および外耳、中耳、内耳奇形に関する調査研究 , 難治性疾患等克服研究事業
2010 - 2012 , 次世代シークエンサーを用いた難聴遺伝子の網羅的解析 , 基盤研究(A)
2010 - 2012 , Usher症候群に関する調査研究 , 難治性疾患克服研究事業
2009 - 2009 , 難治性内耳疾患の遺伝子バンク構築 , 難治性疾患克服研究事業
2008 - 2010 , サブタイプ分類に基づく小児難聴診断、療育システムの構築 , 障害者対策総合研究事業
2007 - 2009 , 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 , 萌芽研究
2005 - 2008 , 老人性難聴に対する分子遺伝学的アプローチ , 基盤研究(B)
2002 - 2004 , 難聴遺伝子データベース構築と遺伝カウンセリングに関する研究 , 感覚器障害研究事業
2000 - 2002 , 難聴の遺伝子解析と臨床応用に関する研究 , 基盤研究(A)

教育活動実績

授業等
2002 , 耳鼻咽喉科学