Shin ichi Usami

Summary

Affiliation: Shinshu University
Country: Japan

Publications

  1. pmc A randomized controlled clinical trial of topical insulin-like growth factor-1 therapy for sudden deafness refractory to systemic corticosteroid treatment
    Takayuki Nakagawa
    Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606 8507, Japan
    BMC Med 12:219. 2014
  2. pmc Effects of EAS cochlear implantation surgery on vestibular function
    Keita Tsukada
    Department of Otolaryngology
    Acta Otolaryngol 133:1128-32. 2013
  3. pmc OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
    Yoh Ichiro Iwasa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, Nagano 390 8621, Japan
    BMC Med Genet 14:95. 2013
  4. pmc Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
    Akira Ganaha
    Department of Otorhinolaryngology Head and Neck Surgery, University of the Ryukyus, Okinawa, Japan
    BMC Med Genet 14:56. 2013
  5. pmc Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
    S Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Clin Genet 82:514-20. 2012
  6. pmc Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Acta Otolaryngol 132:377-84. 2012
  7. pmc Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    PLoS ONE 7:e31276. 2012
  8. pmc Achievement of hearing preservation in the presence of an electrode covering the residual hearing region
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 131:405-12. 2011
  9. pmc Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation
    Hideki Mutai
    Laboratory of Auditory Disorders, Division of Hearing and Balance Research, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan
    BMC Med Genet 12:135. 2011
  10. doi request reprint Semi-quantitative evaluation of endolymphatic hydrops by bilateral intratympanic gadolinium-based contrast agent (GBCA) administration with MRI for Meniere's disease
    Hisakuni Fukuoka
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 130:10-6. 2010

Collaborators

Detail Information

Publications80

  1. pmc A randomized controlled clinical trial of topical insulin-like growth factor-1 therapy for sudden deafness refractory to systemic corticosteroid treatment
    Takayuki Nakagawa
    Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto 606 8507, Japan
    BMC Med 12:219. 2014
    ..This study aimed to examine the efficacy and safety of topical insulin-like growth factor-1 (IGF-1) therapy in comparison to intratympanic corticosteroid therapy...
  2. pmc Effects of EAS cochlear implantation surgery on vestibular function
    Keita Tsukada
    Department of Otolaryngology
    Acta Otolaryngol 133:1128-32. 2013
    ..The vestibular function was well preserved after atraumatic EAS surgery. The round window approach and soft electrode are preferred to decrease the risk of impairing vestibular function...
  3. pmc OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
    Yoh Ichiro Iwasa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, Nagano 390 8621, Japan
    BMC Med Genet 14:95. 2013
    ..Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD...
  4. pmc Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
    Akira Ganaha
    Department of Otorhinolaryngology Head and Neck Surgery, University of the Ryukyus, Okinawa, Japan
    BMC Med Genet 14:56. 2013
    ..To confirm the ethnic variation of the spectrum of SLC26A4 mutations, we investigated the frequencies of SLC26A4 mutations and clinical manifestations of patients with EVA or PS living in the Okinawa Islands...
  5. pmc Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
    S Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Clin Genet 82:514-20. 2012
    ..Molecular genetic testing is useful to differentiate syndromic stapes ankylosis from otosclerosis, and even mild skeletal anomalies can be a diagnostic indicator of NOG-associated disease...
  6. pmc Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Acta Otolaryngol 132:377-84. 2012
    ..Successful hearing preservation as well as good outcomes from EAS indicated that patients with this combination of mutations are good candidates for EAS...
  7. pmc Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    PLoS ONE 7:e31276. 2012
    ..The present method of simultaneous screening of multiple deafness mutations by Invader assay followed by direct sequencing will enable us to detect deafness mutations in an efficient and practical manner for clinical use...
  8. pmc Achievement of hearing preservation in the presence of an electrode covering the residual hearing region
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 131:405-12. 2011
    ..With full insertion with a long electrode, hearing preservation can be achieved even in the presence of a long electrode covering the residual hearing region...
  9. pmc Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation
    Hideki Mutai
    Laboratory of Auditory Disorders, Division of Hearing and Balance Research, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan
    BMC Med Genet 12:135. 2011
    ..Although ethnic background affects the spectrum of mtDNA variants, systematic mutational analysis of mtDNA in Japanese patients with hearing loss has not been reported...
  10. doi request reprint Semi-quantitative evaluation of endolymphatic hydrops by bilateral intratympanic gadolinium-based contrast agent (GBCA) administration with MRI for Meniere's disease
    Hisakuni Fukuoka
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 130:10-6. 2010
    ..Such image-based diagnosis will lead to re-revaluation and reclassification of the diagnostic criteria for Meniere's disease (MD)...
  11. ncbi request reprint Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns
    Tomohiro Oguchi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, 390 8621, Japan
    J Hum Genet 50:76-83. 2005
    ..The present in vitro study further confirmed that differences in phenotypes could be explained by the protein expression pattern...
  12. pmc Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    PLoS ONE 7:e40366. 2012
    ..The present study is the first to demonstrate the prevalence of CDH23 mutations among non-syndromic hearing loss patients and indicated that mutations of the CDH23 gene are an important cause of non-syndromic hearing loss...
  13. ncbi request reprint GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
    Akihiro Ohtsuka
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, 390 8621 Matsumoto, Japan
    Hum Genet 112:329-33. 2003
    ..Results were consistent with inheritance of the 235delC mutation from a common ancestor. The results of this study have important implications for genetic diagnostic testing for deafness in the Japanese population...
  14. ncbi request reprint Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations
    Hiroaki Suzuki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 127:1292-7. 2007
    ....
  15. ncbi request reprint Molecular diagnosis of deafness: impact of gene identification
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Audiol Neurootol 7:185-90. 2002
    ..There may be a considerably large high-risk population and to avoid possible side effects in this group, a rapid mass screening system and careful counseling are recommended...
  16. ncbi request reprint Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Eur J Hum Genet 11:744-8. 2003
    ....
  17. ncbi request reprint Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese
    Koji Tsukamoto
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Eur J Hum Genet 11:916-22. 2003
    ..The PDS gene mutation spectrum in Japanese may be representative of those in Eastern Asian populations and its elucidation is expected to facilitate the molecular diagnosis of a variety of diseases...
  18. ncbi request reprint Identification of 605ins46, a novel GJB2 mutation in a Japanese family
    Isamu Yuge
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Auris Nasus Larynx 29:379-82. 2002
    ..As compound heterozygotes of this mutation with 235delC express sensorineural hearing loss of variable severity, further analysis of the phenotype-genotype relationship is required...
  19. ncbi request reprint Differences in the expression of genes between normal tissue and squamous cell carcinomas of head and neck using cancer-related gene cDNA microarray
    Kazuyuki Kainuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 126:967-74. 2006
    ..This study clearly showed the molecular characteristics of head and neck squamous cell carcinoma (HNSCC) on the basis of gene expression patterns...
  20. pmc Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation
    Takehiko Naito
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    PLoS ONE 8:e63231. 2013
    ..In conclusion, KCNQ4 mutations are frequent among ADNSHL patients, and therefore screening of the gene and molecular confirmation of these mutations have become important in the diagnosis of these conditions...
  21. pmc 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
    Hisakuni Fukuoka
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, Japan
    Acta Otolaryngol 132:141-5. 2012
    ..3 T MRI after intratympanic injection of gadolinium-based contrast agent (GBCA) is more useful for the diagnosis of endolymphatic hydrops compared with the glycerol test and electrocochleography (ECoG)...
  22. pmc Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    PLoS ONE 8:e75793. 2013
    ....
  23. doi request reprint TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    J Hum Genet 57:587-92. 2012
    ....
  24. doi request reprint Language development in Japanese children who receive cochlear implant and/or hearing aid
    Satoshi Iwasaki
    Department of Hearing Implant Sciences, Shinshu University School of Medicine, Japan
    Int J Pediatr Otorhinolaryngol 76:433-8. 2012
    ..This study aimed to investigate a wide variety of factors that influence auditory, speech, and language development following pediatric cochlear implantation (CI)...
  25. doi request reprint Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:158S-68S. 2015
    ..Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population...
  26. pmc Mutations in LOXHD1 gene cause various types and severities of hearing loss
    Kentaro Mori
    Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:135S-41S. 2015
    ..We present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss...
  27. doi request reprint Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness
    Shin ya Nishio
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:6S-48S. 2015
    ..We sought to elucidate the gene expression profiles of the causative genes as well as the localization of the encoded proteins involved in hereditary hearing loss...
  28. ncbi request reprint Microtubule associated protein (MAP1A) mRNA was up-regulated by hypergravity in the rat inner ear
    Yutaka Takumi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Brain Res Mol Brain Res 108:139-42. 2002
    ..The MAP1A gene is the first found to be affected by gravity change in the inner ear...
  29. pmc Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutations
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 131:1232-6. 2011
    ..Our results suggest the importance of hearing during early childhood for the development of a normal cortical language network...
  30. doi request reprint An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Int J Pediatr Otorhinolaryngol 77:298-302. 2013
    ..This is the first case report to show the advantage of MYO7A mutation analysis to diagnose USH1 before the appearance of visual symptoms. We believed that MYO7A mutation analysis is valid for the early diagnosis of USH1...
  31. pmc De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology Head and Neck Surgery, Molecular Otolaryngology and Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:169S-76S. 2015
    ..In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene...
  32. doi request reprint Endolymphatic hydrops and therapeutic effects are visualized in 'atypical' Meniere's disease
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 129:1326-9. 2009
    ..Also, therapeutic effects could be visualized by using MRI. Therefore, MRI-based diagnosis of MD-related disease will be a powerful tool not only because of its precision but also its usefulness for therapeutic evaluation...
  33. ncbi request reprint Type IX collagen knock-out mouse shows progressive hearing loss
    Nobuyoshi Suzuki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Neurosci Res 51:293-8. 2005
    ..Electron microscopy confirmed disturbance of organization of the collagen fibrils. These results suggest that mutations in type IX collagen genes may lead to abnormal integrity of collagen fibers in the tectorial membrane...
  34. ncbi request reprint Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients
    Kenji Asamura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Auris Nasus Larynx 32:113-7. 2005
    ..The patients with the mutations showed a moderate progressive bilateral sensorineural hearing impairment in all frequencies. The present data indicate that mutations of COL9A3 may cause non-syndromic hearing impairment...
  35. pmc Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    PLoS ONE 9:e90688. 2014
    ..In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance. ..
  36. pmc Gene expression pattern after insertion of dexamethasone-eluting electrode into the guinea pig cochlea
    Yutaka Takumi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    PLoS ONE 9:e110238. 2014
    ..These genes are certainly involved in the maintenance of the physiological functions of the cochlea. Our results indicate that the dexamethasone-eluting electrode will have an effect on the normalization of homeostasis in the cochlea. ..
  37. ncbi request reprint Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation
    Katsuhiko Kobayashi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Auris Nasus Larynx 32:119-24. 2005
    ..8%). The present analysis did not agree with the concept that the 961delT mutation causes aminoglycoside-induced hearing loss...
  38. pmc Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    PLoS ONE 8:e71381. 2013
    ..In conclusion, target exon resequencing using MPS technology is a suitable method to discover common and rare causative genes for a highly heterogeneous monogenic disease like hearing loss. ..
  39. doi request reprint Evaluation of cortical processing of language by use of positron emission tomography in hearing loss children with congenital cytomegalovirus infection
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Int J Pediatr Otorhinolaryngol 78:285-9. 2014
    ..To predict cochlear implant efficacy and investigate the cortical processing of the visual component of language in profoundly deafened patients with asymptomatic congenital cytomegalovirus (CMV) infection...
  40. doi request reprint Pre-Baha operation three dimensional computed tomography with markers for determining optimal implant site
    Yutaka Takumi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Laryngoscope 118:1824-6. 2008
  41. ncbi request reprint Transplanted human amniotic epithelial cells express connexin 26 and Na-K-adenosine triphosphatase in the inner ear
    Isamu Yuge
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Transplantation 77:1452-4. 2004
    ..This technology suggests the therapeutic potential for the treatment of hearing loss...
  42. pmc Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord
    Sakiko Furutate
    Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 131:976-82. 2011
    ..0% of SNHL cases. The diagnostic rate using combined genetic deafness test and CMV DNA detection test was determined to be 46.4% in bilateral profound SNHL...
  43. pmc Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology Head and Neck Surgery, Molecular Otolaryngology and Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:177S-83S. 2015
    ....
  44. pmc Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss
    Naoko Sakuma
    Department of Otorhinolaryngology and Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama, Japan Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:184S-92S. 2015
    ..We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features...
  45. doi request reprint Detailed hearing and vestibular profiles in the patients with COCH mutations
    Keita Tsukada
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:100S-10S. 2015
    ..To evaluate the clinical features of Japanese DFNA9 families with mutations of the COCH gene...
  46. ncbi request reprint The effect of hypergravity on the inner ear: CREB and syntaxin are up-regulated
    Naoya Iijima
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Neuroreport 15:965-9. 2004
    ....
  47. ncbi request reprint Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
    Hisakuni Fukuoka
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, and Aomori Prefectural Hospital, Japan
    J Hum Genet 52:510-5. 2007
    ....
  48. pmc Experience with the Vibrant Soundbridge RW-Coupler for round window Vibroplasty with tympanosclerosis
    Satoshi Iwasaki
    Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto City, Japan
    Acta Otolaryngol 132:676-82. 2012
    ..The results of the present case have shown the feasibility of implanting a VSB with RW-Coupler in patients with mixed hearing loss due to tympanosclerosis...
  49. doi request reprint The responsible genes in Japanese deafness patients and clinical application using Invader assay
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Acta Otolaryngol 128:446-54. 2008
    ..Simultaneous examination of multiple mutations based on a population's spectrum may be appropriate and effective for detecting deafness genes, facilitating precise clinical diagnosis, appropriate counseling, and proper management...
  50. doi request reprint Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review
    Keita Tsukada
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:61S-76S. 2015
    ..In this study, the spectrum of the reported GJB2 and SLC26A4 mutations in different populations are reviewed and considered from a human migration perspective...
  51. doi request reprint The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:193S-204S. 2015
    ..To clarify the frequency of TMPRSS3 mutations in the hearing loss population, genetic analysis was performed, and detailed clinical characteristics were collected. Optical intervention for patients with TMPRSS3 mutations was also discussed...
  52. doi request reprint Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:94S-9S. 2015
    ..This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings...
  53. doi request reprint Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:84S-93S. 2015
    ..ACTG1 has been reported to be a causative gene for autosomal dominant sensorineural hearing loss, DFNA20/26. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations...
  54. doi request reprint Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients
    Yoh Ichiro Iwasa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:111S-7S. 2015
    ..This study aims to document the clinical features of patients with COL11A2 mutations and to describe the usefulness of massively parallel sequencing...
  55. pmc Deafness gene expression patterns in the mouse cochlea found by microarray analysis
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    PLoS ONE 9:e92547. 2014
    ..We thought that it is possible that tonotopic gradients of gene expression within the cochlea account for the distinct audiograms...
  56. ncbi request reprint [Molecular diagnosis of deafness]
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine
    Nihon Rinsho 69:357-67. 2011
    ..This assay will enable us to detect deafness mutations in an efficient and practical manner in the clinical platform...
  57. doi request reprint Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:77S-83S. 2015
    ..This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome...
  58. pmc USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology Head and Neck Surgery, Molecular Otolaryngology and Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:123S-8S. 2015
    ..We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2)...
  59. doi request reprint Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance
    Aya Ichinose
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:142S-7S. 2015
    ..We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings...
  60. doi request reprint Germinal mosaicism in a family with BO syndrome
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:118S-22S. 2015
    ..To clarify the existence of germinal mosaicism, we performed a genetic analysis of 2 siblings identified with an EYA1 mutation associated with branchiooto (BO) syndrome but who were born from normal parents...
  61. doi request reprint Prevalence of level V metastasis in head and neck squamous cell carcinoma
    Kazuyuki Kainuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 133:218-24. 2013
    ..In addition, degree of pathological differentiation and pN stage >N2b are suggested risk factors for level V metastasis...
  62. doi request reprint High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene
    Satoko Abe
    Abe ENT Clinic, Tokyo Department of Otorhinolaryngology, Toranomon Hospital, Tokyo Department of Clinical Genomics, BioMedical Laboratories, Inc, Kawagoe and Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Otol Neurotol 35:1087-90. 2014
    ..To clarify the responsible gene for a family associated with hearing loss but having no well-known mitochondrial mutations...
  63. doi request reprint Hearing handicap in adults with unilateral deafness and bilateral hearing loss
    Satoshi Iwasaki
    Department of Hearing Implant Science, Shinshu University School of Medicine, Matsumoto City, Nagano, Japan
    Otol Neurotol 34:644-9. 2013
    ..To assess the perception of hearing handicap in adult patients with unilateral sudden sensorineural hearing loss (SNHL) compared with those with bilateral SNHL or unilateral congenital SNHL...
  64. ncbi request reprint Polysialic acid and HNK-1 are expressed in the adult rat vestibular endorgans
    Manami Isawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Neuroreport 15:1575-8. 2004
    ..These results combined suggest that both PSA and HNK-1 carbohydrate epitopes are synthesized and may have an important role in the adult peripheral vestibular endorgans...
  65. doi request reprint Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan
    Ann Otol Rhinol Laryngol 124:148S-57S. 2015
    ..To elucidate the involvement of MYO6 mutations, known to be responsible for DFNA22/DFNB37, in Japanese hearing loss patients through the use of genetic analysis...
  66. ncbi request reprint Immunocytochemical localization of ubiquitin A-52 protein in the mouse inner ear
    Ryosuke Kitoh
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Neuroreport 18:869-73. 2007
    ..Endolymphatic K concentration is elevated between postnatal days 3-8: therefore, our results indicate that UbA52 may have a functional role in regulation of ion secretion in the inner ear...
  67. pmc Ubiquinol-10 supplementation activates mitochondria functions to decelerate senescence in senescence-accelerated mice
    Geng Tian
    1 Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, Japan
    Antioxid Redox Signal 20:2606-20. 2014
    ..The present study was conducted to define the relationship between the anti-aging effect of ubiquinol-10 supplementation and mitochondrial activation in senescence-accelerated mouse prone 1 (SAMP1) mice...
  68. doi request reprint Chondrosarcoma of the nasal septum: A case report
    Kazuyuki Kainuma
    Department of Otolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
    Auris Nasus Larynx 36:601-5. 2009
    ..We discuss the clinical presentation, diagnosis, and treatment of this case as well as present a review of the literature...
  69. doi request reprint The first report of bilateral retropharyngeal lymph node metastasis from papillary thyroid carcinoma and review of the literature
    Kazuyuki Kainuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 131:1341-8. 2011
    ..Also, it is necessary to consider the possibility of metastasis from a papillary thyroid carcinoma in the differential diagnosis of lymph node swelling in the parapharyngeal space...
  70. doi request reprint Inner hair cells of mice express the glutamine transporter SAT1
    Tomohiro Oguchi
    Centre for Molecular Biology and Neuroscience, Institute of Basic Medical Sciences, University of Oslo, Blindern, Oslo, Norway
    Hear Res 292:59-63. 2012
    ....
  71. doi request reprint Hybrid carcinoma of the parotid gland: report of a case (epithelial-myoepithelial carcinoma and salivary duct carcinoma) and review of the literature
    Kazuyuki Kainuma
    Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 130:185-9. 2010
    ..There has been no evidence of recurrence to date. To our knowledge, this is the first report of a hybrid carcinoma composed of epithelial-myoepithelial and salivary duct carcinomas of the parotid gland in Japan...
  72. pmc IgG4-related chronic rhinosinusitis: a new clinical entity of nasal disease
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, Japan
    Acta Otolaryngol 131:518-26. 2011
    ..Objectives. To confirm whether IgG4-related disease has distinctive chronic rhinosinusitis...
  73. ncbi request reprint Malignant peripheral nerve sheath tumor of the parotid gland
    Shun ichi Imamura
    Department of Otolaryngology, Shinshu University, School of Medicine, Matsumoto City, Nagano Prefecture, Japan
    Ann Otol Rhinol Laryngol 112:637-43. 2003
    ..Curative treatment based on radical resection of MPNSTs of head and neck origin is more difficult than treatment of MPNSTs of other origins...
  74. pmc Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
    Maiko Miyagawa
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    J Hum Genet 59:262-8. 2014
    ..Our mutation analysis confirmed the importance of mutations in the SLC26A4 gene among hearing loss patients with enlarged vestibular aqueduct and revealed the mutation spectrum, essential information when performing genetic testing...
  75. doi request reprint Inverted papilloma of the middle ear: a case report and review of the literature
    Kazuyuki Kainuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Acta Otolaryngol 131:216-20. 2011
    ..There has been no evidence of recurrence to date. We discuss the clinical presentation, diagnosis, and treatment of this case and present a review of the literature...
  76. ncbi request reprint Meningioma of the paranasal sinus: a case report
    Kazuyuki Kainuma
    Department of Otolaryngology, Shinshu University School of Medicine, Asahi 3 1 1, Matsumoto 390 8621, Japan
    Auris Nasus Larynx 34:397-400. 2007
    ..This is the first report of the use of such a system with endoscopic surgery for this condition. We discuss the clinical presentation, diagnosis, and treatment of this case as well as present a review of the literature...
  77. pmc Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
    Shin ya Nishio
    1 Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Genet Test Mol Biomarkers 19:209-17. 2015
    ....
  78. ncbi request reprint Identification of differentially expressed genes in salivary gland tumors with cDNA microarray
    Kazuyuki Kainuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi 3 1 1, Matsumoto 390 8621, Japan
    Auris Nasus Larynx 31:261-8. 2004
    ..As the first step to that end, the present study was performed to determine whether the cDNA microarray system is applicable for histological evaluation of parotid gland tumors...
  79. ncbi request reprint Role of visual input in nonlinear postural control system
    Osamu Sasaki
    Department of Otolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Exp Brain Res 147:1-7. 2002
    ....