S Usami

Summary

Affiliation: Shinshu University
Country: Japan

Publications

  1. ncbi Rapid mass screening method and counseling for the 1555A-->G mitochondrial mutation
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    J Hum Genet 44:304-7. 1999
  2. doi 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
  3. ncbi 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
  4. ncbi Neurotransmission in the vestibular endorgans--glutamatergic transmission in the afferent synapses of hair cells
    S I Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Biol Sci Space 15:367-70. 2001
  5. doi The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea
    S Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Neuroscience 154:22-8. 2008
  6. ncbi 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
  7. ncbi Endoscopic-assisted myringoplasty
    S Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    ORL J Otorhinolaryngol Relat Spec 63:287-90. 2001
  8. ncbi Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan
    ORL J Otorhinolaryngol Relat Spec 60:164-9. 1998
  9. ncbi Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese
    J Akita
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    J Hum Genet 46:355-61. 2001
  10. pmc Prevalent connexin 26 gene (GJB2) mutations in Japanese
    S Abe
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
    J Med Genet 37:41-3. 2000

Collaborators

Detail Information

Publications29

  1. ncbi Rapid mass screening method and counseling for the 1555A-->G mitochondrial mutation
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    J Hum Genet 44:304-7. 1999
    ..We are currently using the mutant allele specific amplification (MASA) method to detect the 1555A-->G mitochondrial mutation and we distribute a warning card to subjects found to bear this mutation...
  2. doi 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...
  3. ncbi 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
    ....
  4. ncbi Neurotransmission in the vestibular endorgans--glutamatergic transmission in the afferent synapses of hair cells
    S I Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Biol Sci Space 15:367-70. 2001
    ..On the other hand, there are also important differences, especially those related to the molecular mechanisms that underlie transmitter release...
  5. doi The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea
    S Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Neuroscience 154:22-8. 2008
    ....
  6. ncbi 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...
  7. ncbi Endoscopic-assisted myringoplasty
    S Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    ORL J Otorhinolaryngol Relat Spec 63:287-90. 2001
    ..We summarized the results of 22 endoscopic-assisted myringoplasties and concluded that this technique provides satisfactory results both in the success rate of perforation closure and in hearing outcome...
  8. ncbi Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan
    ORL J Otorhinolaryngol Relat Spec 60:164-9. 1998
    ..Even when using aminoglycoside antibiotics with milder side effects, careful attention should be paid in applying them to patients with particular genetic backgrounds...
  9. ncbi Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese
    J Akita
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    J Hum Genet 46:355-61. 2001
    ..The present study reports that a mutation in KCNQ4, a member of a large family of potassium channel genes, was responsible for ADSNHL in one Japanese family...
  10. pmc Prevalent connexin 26 gene (GJB2) mutations in Japanese
    S Abe
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
    J Med Genet 37:41-3. 2000
    ..Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations...
  11. 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...
  12. ncbi Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
    M Wagatsuma
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Clin Genet 72:339-44. 2007
    ..This Japanese spectrum may be representative of those in Eastern Asian populations and its elucidation is expected to facilitate the molecular diagnosis of DFNB12 and USH1D...
  13. ncbi EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    J Hum Genet 44:261-5. 1999
    ..There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis...
  14. ncbi Immunoelectron microscopy of AMPA receptor subunits reveals three types of putative glutamatergic synapse in the rat vestibular end organs
    A Matsubara
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
    Brain Res 819:58-64. 1999
    ..These data indicate that there are three types of putative glutamatergic synapse in the vestibular end organ...
  15. ncbi Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    J Commun Disord 31:423-34; quiz 434-5. 1998
    ..The aminoglycoside-induced hearing loss associated with a mitochondrial mutation is commonly bilateral, symmetric, high frequency involved, and is sometimes associated with progressive sensorineural hearing loss...
  16. ncbi Factors that affect hearing level in individuals with the mitochondrial 1555A.G mutation
    S Y Lu
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Clin Genet 75:480-4. 2009
    ..A high prevalence of GJB2 heterozygous mutations was noted, indicating that these mutations may exhibit epistatic interaction with the 1555A>G mutation...
  17. doi A large cohort study of GJB2 mutations in Japanese hearing loss patients
    K Tsukada
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Clin Genet 78:464-70. 2010
    ..Additional clinical features in hearing loss patients with GJB2 mutations in this study were the near absence of tinnitus, vestibular dysfunction and inner ear malformations...
  18. ncbi Various glutathione S-transferase isoforms in the rat cochlea
    Y Takumi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Neuroreport 12:1513-6. 2001
    ..The specific arrangements also indicated a possible contribution to the detoxification process in the form of a blood-labyrinth barrier...
  19. ncbi Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    Hum Genet 104:188-92. 1999
    ..The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss...
  20. ncbi Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation
    T Tono
    Department of Otorhinolaryngology, Miyazaki Medical College, Miyazaki, Japan
    ORL J Otorhinolaryngol Relat Spec 63:25-30. 2001
    ..e., strial dysfunction rather than a direct insult to the hair cells...
  21. ncbi The effects of intense click sounds on velocity storage in optokinetic after-nystagmus
    O Sasaki
    Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan
    Eur Arch Otorhinolaryngol 257:490-2. 2000
    ..There was no effect on OKAN with unilateral stimulation but binaural stimulation suppressed it. These results suggest that a velocity storage integrator is influenced by intense clicks via the otolithic area...
  22. ncbi Type IX collagen is crucial for normal hearing
    K Asamura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Neuroscience 132:493-500. 2005
    ..These findings indicate that genes encoding each chain of type IX collagen may fulfill an important function associated with the tectorial membrane in the auditory system...
  23. ncbi Quantitative immunogold cytochemistry reveals sources of glutamate release in inner ear ischemia
    A Matsubara
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    Acta Otolaryngol Suppl 539:48-51. 1998
    ..Adjacent supporting cells (border cells) also showed a decrease in particle density, suggesting that they constitute an additional source of glutamate...
  24. ncbi Aspartate is enriched in sensory cells and subpopulations of non-neuronal cells in the guinea pig inner ear: a quantitative immunoelectron microscopic analysis
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    Brain Res 742:43-9. 1996
    ..The present immunocytochemical results are consistent with the idea that aspartate is involved in neurotransmission in the inner ear, but also point to possible metabolic roles of aspartate...
  25. ncbi Connexin 26 distribution in gap junctions between melanocytes in the human vestibular dark cell area
    M Masuda
    Department of Otorhinolaryngology, Keio University, School of Medicine, Tokyo, Japan
    Anat Rec 262:137-46. 2001
    ..This suggested that the melanocytes in the human vestibular organ may play a role in transporting material between the endolymph and perilymph...
  26. ncbi Discrete cellular and subcellular localization of glutamine synthetase and the glutamate transporter GLAST in the rat vestibular end organ
    Y Takumi
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Zaifu cho, Japan
    Neuroscience 79:1137-44. 1997
    ..Thus, at this peripheral synapse, the supporting cells may carry out functions similar to those of glial cells in the CNS...
  27. ncbi Cell death in the inner ear associated with aging is apoptosis?
    S Usami
    Dept of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    Brain Res 747:147-50. 1997
    ..The present results suggest that age-related cell death, which may cause hearing impairment and dysequilibrium, is due to apoptosis occurring in the inner ear...
  28. ncbi Differential cellular distribution of glutathione--an endogenous antioxidant--in the guinea pig inner ear
    S Usami
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan
    Brain Res 743:337-40. 1996
    ..The present findings suggest that the synthesis of GSH, a peptide known to protect against ototoxic compounds, depends on restricted cell populations in the inner ear...
  29. ncbi Gait initiation in bilateral vestibular loss
    O Sasaki
    Department of Otolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Postal Code 390 8621, Matsumoto, Japan
    Auris Nasus Larynx 28:295-9. 2001
    ..The purpose of this work was to explore the role of the vestibular system in this voluntary stepping...