S Usami

Summary

Affiliation: Hirosaki University School of Medicine
Country: Japan

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint 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
  3. ncbi request reprint 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
  4. ncbi request reprint 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
  5. ncbi request reprint 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
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. doi request reprint 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
  9. ncbi request reprint 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 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

Collaborators

Detail Information

Publications27

  1. ncbi request reprint 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...
  2. ncbi request reprint 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...
  3. ncbi request reprint 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...
  4. ncbi request reprint 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...
  5. ncbi request reprint 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...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. doi request reprint 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
    ....
  9. ncbi request reprint 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 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...
  11. 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...
  12. ncbi request reprint 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...
  13. ncbi request reprint 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...
  14. ncbi request reprint 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...
  15. ncbi request reprint 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...
  16. doi request reprint 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...
  17. ncbi request reprint 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...
  18. ncbi request reprint 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...
  19. ncbi request reprint 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint 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...
  22. ncbi request reprint 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...
  23. ncbi request reprint 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...
  24. pmc Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
    M D Weston
    Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
    Am J Hum Genet 66:1199-210. 2000
    ..The possible significance of this domain, known to be necessary for laminin network assembly, is discussed in the context of domain VI mutations from other proteins...
  25. pmc CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea
    A Oshima
    J Med Genet 43:e25. 2006
    ..In a search for mutations of mu-crystallin (CRYM), a taxion specific crystalline which is also known as an NADP regulated thyroid hormone binding protein, two mutations were found at the C-terminus in patients with non-syndromic deafness...
  26. pmc Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I
    A Oshima
    Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Hum Mutat 29:E37-46. 2008
    ..Out of a total of 112 alleles, 31 (27.7%) were considered pathologic. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations...
  27. ncbi request reprint A family affected by branchio-oto syndrome with EYA1 mutations
    S Fukuda
    Department of Otolaryngology, Hokkaido University School of Medicine, Sapporo, Japan
    Auris Nasus Larynx 28:S7-11. 2001
    ..The present report adds further examples to support the usefulness of molecular genetic testing for the diagnosis of patients with BO syndrome...