論文 Phylogeny and biogeography of arctic-alpine butterflies of the genus Oeneis (Nymphalidae: Satyrinae) ENTOMOLOGICAL SCIENCE,24(2):183-195 2021(Jun.) Author:Usami, Shin-ichi; Isaka, Yuichi; Nishio, Shin-ya; Nakatani, Takatoshi; Itoh, Tateo; Keywords:Davidina; evolution; Lepidoptera; Nearctic; Nymphalidae; Palearctic; Satyrina;
Development and validation of an iPad-based Japanese language monosyllable speech perception test (iCI2004 monosyllable) ACTA OTO-LARYNGOLOGICA,141(3):267-272 2021 Author:Nishio, Shin-ya; Tono, Tetsuya; Iwaki, Takako; Moteki, Hideaki; Suzuki, Kumiko; Tsushima, Yui; Kashio, Akinori; Akamatsu, Yusuke; Sato, Hiroaki; Yaegashi, Keiko; Takeda, Hidehiko; Kumagai, Fumiai; Nakashima, Takahiro; Matsuda, Yusuke; Hato, Naohito; Dairoku, Teppei; Shiroma, Masae; Kawai, Ryosuke; Usami, Shin-ichi; Keywords:Japanese monosyllable perception test; validation; iPad; hearing loss; cochlear implant; hearing aid;
Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A > G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip GENETIC TESTING AND MOLECULAR BIOMARKERS,25(1):79-83 2021 Author:Isaka, Yuichi; Nishio, Shin-ya; Hishinuma, Eiji; Hiratsuka, Masahiro; Usami, Shin-ichi; Keywords:aminoglycoside antibiotics; hearing loss; mitochondria; rapid companion diagnostic;
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores HUMAN GENETICS 2021 Author:Miyoshi, Takushi; Belyantseva, Inna A.; Kitajiri, Shin-Ichiro; Miyajima, Hiroki; Nishio, Shin-Ya; Usami, Shin-Ichi; Kim, Bong Jik; Choi, Byung Yoon; Omori, Koichi; Shroff, Hari; Friedman, Thomas B.;
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations HUMAN GENETICS,139(10):1315-1323 2020(Oct.) Author:Walls, W. Daniel; Moteki, Hideaki; Thomas, Taylor R.; Nishio, Shin-ya; Yoshimura, Hidekane; Iwasa, Yoichiro; Frees, Kathy L.; Nishimura, Carla J.; Azaiez, Hela; Booth, Kevin T.; Marini, Robert J.; Kolbe, Diana L.; Weaver, A. Monique; Schaefer, Amanda M.; Wang, Kai; Braun, Terry A.; Usami, Shin-ichi; Barr-Gillespie, Peter G.; Richardson, Guy P.; Smith, Richard J.; Casavant, Thomas L.;
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4 MEDICINE,99(19) 2020(May) Author:Fujioka, Masato; Akiyama, Takumi; Hosoya, Makoto; Kikuchi, Kayoko; Fujiki, Yuto; Saito, Yasuko; Yoshihama, Keisuke; Ozawa, Hiroyuki; Tsukada, Keita; Nishio, Shin-ya; Usami, Shin-ichi; Matsunaga, Tatsuo; Hasegawa, Tomonobu; Sato, Yasunori; Ogawa, Kaoru;
Cochlear Implantation From the Perspective of Genetic Background ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY,303(3):563-593 2020(Mar.) Author:Usami, Shin-ichi; Nishio, Shin-ya; Moteki, Hideaki; Miyagawa, Maiko; Yoshimura, Hidekane;
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot? GENES,11(3) 2020(Mar.) Author:Shinagawa, Jun; Moteki, Hideaki; Nishio, Shin-ya; Noguchi, Yoshihiro; Usami, Shin-ichi;
Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort ACTA OTO-LARYNGOLOGICA,140(1):32-39 2020 Author:Kitoh, Ryosuke; Nishio, Shin-Ya; Usami, Shin-Ichi;
Genetic testing has the potential to impact hearing preservation following cochlear implantation ACTA OTO-LARYNGOLOGICA,140(6):438-444 2020 Author:Yoshimura, Hidekane; Moteki, Hideaki; Nishio, Shin-ya; Miyajima, Hiroki; Miyagawa, Maiko; Usami, Shin-ichi;
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss SCIENTIFIC REPORTS,10(1) 2020 Author:Miyajima, Hiroki; Moteki, Hideaki; Day, Timothy; Nishio, Shin-ya; Murata, Takaaki; Ikezono, Tetsuo; Takeda, Hidehiko; Abe, Satoko; Iwasaki, Satoshi; Takahashi, Masahiro; Naito, Yasushi; Yamazaki, Hiroshi; Kanda, Yukihiko; Kitajiri, Shin-ichiro; Usami, Shin-ichi;
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations HUMAN GENETICS 2020 Author:Walls, W. Daniel; Moteki, Hideaki; Thomas, Taylor R.; Nishio, Shin-ya; Yoshimura, Hidekane; Iwasa, Yoichiro; Frees, Kathy L.; Nishimura, Carla J.; Azaiez, Hela; Booth, Kevin T.; Marini, Robert J.; Kolbe, Diana L.; Weaver, A. Monique; Schaefer, Amanda M.; Wang, Kai; Braun, Terry A.; Usami, Shin-ichi; Barr-Gillespie, Peter G.; Richardson, Guy P.; Smith, Richard J.; Casavant, Thomas L.;
Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing ACTA OTO-LARYNGOLOGICA,140(8):632-638 2020 Author:Yoshimura, Hidekane; Moteki, Hideaki; Nishio, Shin-ya; Usami, Shin-ichi;
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort GENES,10(10) 2019(Oct.) Author:Maekawa, Karuna; Nishio, Shin-ya; Abe, Satoko; Goto, Shin-ichi; Honkura, Yohei; Iwasaki, Satoshi; Kanda, Yukihiko; Kobayashi, Yumiko; Oka, Shin-ichiro; Okami, Mayuri; Oshikawa, Chie; Sakuma, Naoko; Sano, Hajime; Shirakura, Masayuki; Uehara, Natsumi; Usami, Shin-ichi;
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,20(18) 2019 Author:Kitano, Tomohiro; Kitajiri, Shin-ichiro; Nishio, Shin-ya; Usami, Shin-ichi;
Frequency and clinical features of hearing loss caused by STRC deletions SCIENTIFIC REPORTS,9 2019 Author:Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel MOLECULAR GENETICS & GENOMIC MEDICINE,6(4):678-686 2018(Jul.) Author:Nishio, Shin-ya; Moteki, Hideaki; Usami, Shin-ichi;
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis PLOS ONE,13(3) 2018 Author:Kobayashi, Masafumi; Miyagawa, Maiko; Nishio, Shin-ya; Moteki, Hideaki; Fujikawa, Taro; Ohyama, Kenji; Sakaguchi, Hirofumi; Miyanohara, Ikuyo; Sugaya, Akiko; Naito, Yasushi; Morita, Shin-ya; Kanda, Yukihiko; Takahashi, Masahiro; Ishikawa, Kotaro; Nagano, Yuki; Tono, Tetsuya; Oshikawa, Chie; Kihara, Chiharu; Takahashi, Haruo; Noguchi, Yoshihiro; Usami, Shin-ichi;
Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review. Acta Otolaryngol,137(7):730-742 2017(Jul.) Author:Nishio SY, Usami SI.
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. Hear Res,348:87-97 2017(May) Author:Nishio SY, Takumi Y, Usami SI.
Long-term results of hearing preservation cochlear implant surgery in patients with residual low frequency hearing. Acta Otolaryngol,137(5):516-521 2017(May) Author:Moteki H, Nishio SY, Miyagawa M, Tsukada K, Iwasaki S, Usami SI.
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. PLoS One,12(5):e0177636 2017(May) Author: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.
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification. Hum Mutat,38(3):252-259 2017(Mar.) Author:Nishio SY, Usami SI.
The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan. Acta Otolaryngol,137(sup565):S44-S47 2017 Author:Morita S, Fujiwara K, Fukuda A, Fukuda S, Nishio SY, Kitoh R, Hato N, Ikezono T, Ishikawa K, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nishizaki K, Ogawa K, Sano H, Sato H, Sone M, Suzuki M, Takahashi H, Tono T, et al.
The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol,137(sup565):S30-S33 2017 Author:Okada M, Hato N, Nishio SY, Kitoh R, Ogawa K, Kanzaki S, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.
Etiology of single-sided deafness and asymmetrical hearing loss. Acta Otolaryngol,137(sup565):S2-S7 2017 Author:Usami SI, Kitoh R, Moteki H, Nishio SY, Kitano T, Kobayashi M, Shinagawa J, Yokota Y, Sugiyama K, Watanabe K.
Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss. Acta Otolaryngol,137(sup565):S24-S29 2017 Author:Kitoh R, Nishio SY, Usami SI.
Epidemiological survey of acute low-tone sensorineural hearing loss. Acta Otolaryngol,137(sup565):S34-S37 2017 Author:Sato H, Kuwashima S, Nishio SY, Kitoh R, Fukuda S, Hara A, Hato N, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Ogawa K, Sano H, Sone M, Shojaku H, et al.
Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients. Acta Otolaryngol,137(sup565):S17-S23 2017 Author:Umesawa M, Kobashi G, Kitoh R, Nishio SY, Ogawa K, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.
Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan. Acta Otolaryngol,137(sup565):S38-S43 2017 Author:Yoshida T, Sone M, Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, et al.
A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases. Acta Otolaryngol,137(sup565):S53-S59 2017 Author:Matsuda H, Sakamoto K, Matsumura T, Saito S, Shindo S, Fukushima K, Nishio SY, Kitoh R, Shibasaki O, Ito A, Araki R, Usami SI, Suzuki M, Ogawa K, Hasegawa T, Hagiwara Y, Kase Y, Ikezono T.
Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan. Acta Otolaryngol,137(sup565):S8-S16 2017 Author:Kitoh R, Nishio SY, Ogawa K, Kanzaki S, Hato N, Sone M, Fukuda S, Hara A, Ikezono T, Ishikawa K, Iwasaki S, Kaga K, Kakehata S, Matsubara A, Matsunaga T, Murata T, Naito Y, Nakagawa T, Nishizaki K, Noguchi Y, Sano H, Sato H, et al.
Differences between acoustic trauma and other types of acute noise-induced hearing loss in terms of treatment and hearing prognosis. Acta Otolaryngol,137(sup565):S48-S52 2017 Author:Wada T, Sano H, Nishio SY, Kitoh R, Ikezono T, Iwasaki S, Kaga K, Matsubara A, Matsunaga T, Murata T, Naito Y, Suzuki M, Takahashi H, Tono T, Yamashita H, Hara A, Usami SI.
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. PLoS One,11(12):e0166781 2016(Dec.) Author:Iwasa YI, Nishio SY, Usami SI.
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(11):918-923 2016(Nov.) Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss. EMBO Mol Med,8(11):1310-1324 2016(Nov.) Author:Ueyama T, Ninoyu Y, Nishio SY, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami SI, Saito N, Kitajiri SI.
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(Sep.) Author:Mori K, Moteki H, Miyagawa M, Nishio SY, Usami S.
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet,61(5):419-22 2016(May) Author:Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S.
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. J Hum Genet,61(3):253-61 2016(Mar.) Author:Sakuma N, Moteki H, Takahashi M, Nishio SY, Arai Y, Yamashita Y, Oridate N, Usami S.
Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection. Pediatr Neurol,55:52-7 2016(Feb.) Author:Inaba Y, Motobayashi M, Nishioka M, Kaneko T, Yamauchi S, Kawasaki Y, Shiba N, Nishio SY, Moteki H, Miyagawa M, Takumi Y, Usami S, Koike K.
A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology. Otol Neurotol,37(2):e126-34 2016(Feb.) Author:Miyagawa M, Nishio SY, Usami S.
Advances in Molecular Genetics and the Molecular Biology of Deafness. Biomed Res Int,2016:5629093 2016 Author:Nishio SY, Schrauwen I, Moteki H, Azaiez H.
SOD1 gene polymorphisms in sudden sensorineural hearing loss. Acta Otolaryngol,136(5):465-9 2016 Author:Kitoh R, Nishio SY, Ogawa K, Okamoto M, Kitamura K, Gyo K, Sato H, Nakashima T, Fukuda S, Fukushima K, Hara A, Yamasoba T, Usami S.
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;
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;
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;
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;
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 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;
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;
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;
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;
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;
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;
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;
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;
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;
Replication initiator protein mRNA of ColE2 plasmid and its antisense regulator RNA are under the control of different degradation pathways (vol 59, pg 102, 2008) PLASMID,62(3):206-206 2009(Nov.) Author:Nishio, Shin-ya; Itoh, Tateo;
Arginine-rich RNA binding domain and protein scaffold domain of RNase E are important for degradation of RNAI but not for that of the Rep mRNA of the ColE2 plasmid PLASMID,62(2):83-87 2009(Sep.) Author:Nishio, Shin-ya; Itoh, Tateo;
The effects of RNA degradation enzymes on antisense RNAI controlling ColE2 plasmid copy number PLASMID,60(3):174-180 2008(Nov.) Author:Nishio, Shin-ya; Itoh, Tateo;
Importance of the leader region of mRNA for translation initiation of ColE2 Rep protein PLASMID,58(3):249-260 2007(Nov.) Author:Nagase, Tomomi; Nishio, Shin-Ya; Itoh, Tateo;