Search Results - "Ishikawa, Kotaro"
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TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear
Published in Neuron (Cambridge, Mass.) (07-08-2013)“…Sensory transduction in auditory and vestibular hair cells requires expression of transmembrane channel-like (Tmc) 1 and 2 genes, but the function of these…”
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2
Autoimmune hemolytic anemia associated with Takenouchi–Kosaki syndrome
Published in Pediatrics international (01-12-2021)Get full text
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3
Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
Published in International journal of hematology (01-04-2023)“…Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo heterozygous mutation in the CDC42 gene. Its characteristic clinical features…”
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4
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis
Published in PloS one (12-03-2018)“…A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like…”
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Nationwide epidemiological survey of idiopathic sudden sensorineural hearing loss in Japan
Published in Acta oto-laryngologica (10-03-2017)“…Objectives: Using a large-scale nationwide survey database, we investigated the epidemiological characteristics for idiopathic SSNHL in Japan. Methods: The…”
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6
Comprehensive analysis of syndromic hearing loss patients in Japan
Published in Scientific reports (19-08-2019)“…More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this…”
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Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation
Published in PloS one (23-05-2013)“…The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation…”
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8
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1
Published in PloS one (11-03-2014)“…Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical…”
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The Prevalence and Clinical Characteristics of TECTA -Associated Autosomal Dominant Hearing Loss
Published in Genes (24-09-2019)“…is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed…”
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The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan
Published in Acta oto-laryngologica (10-03-2017)“…Conclusions: The majority of hearing loss due to mumps presents as unilateral profound sensorineural hearing loss, which is refractory to treatment. In rare…”
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Idiopathic sudden sensorineural hearing loss and acute low-tone sensorineural hearing loss: a comparison of the results of a nationwide epidemiological survey in Japan
Published in Acta oto-laryngologica (10-03-2017)“…Objectives: The aim of this study was to investigate the differences between idiopathic sudden sensorineural hearing loss (SSNHL), and acute low-tone…”
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12
Disruption of fibroblast growth factor receptor 3 signaling results in defects in cellular differentiation, neuronal patterning, and hearing impairment
Published in Developmental dynamics (01-07-2007)“…Deletion of fibroblast growth factor receptor 3 (Fgfr3) leads to hearing impairment in mice due to defects in the development of the organ of Corti, the…”
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13
The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan
Published in Acta oto-laryngologica (10-03-2017)“…Objective: To investigate the hearing prognosis of idiopathic sudden sensorineural hearing loss (SSNHL) treated with different initial therapies. Methods:…”
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Public Assistance for Persons with Hearing Loss
Published in AUDIOLOGY JAPAN (28-04-2022)“…Otolaryngologist and speech-language pathologists have many opportunities to be involved in processes such as certification of hearing impairment based on the…”
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Metallurgical study on erosion and corrosion behaviors of steels exposed to liquid lead–bismuth flow
Published in Journal of nuclear materials (01-08-2005)“…The mechanism of erosion and corrosion of steels in lead–bismuth eutectic (45Pb–55Bi) flow was investigated. Nine steels were simultaneously exposed to the…”
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聴覚障害者への公的支援
Published in AUDIOLOGY JAPAN (28-04-2022)“…要旨: 耳鼻咽喉科医や言語聴覚士は, 聴覚障害者に対して身体障害者障害者福祉法に基づく聴覚障害の認定や障害者総合支援法に基づく補装具費支給制度による補聴器の適合などで, これらの制度に関わる機会が多いが, 一方で制度について養成校や研修先で系統立てて指導を受けた経験は少ないと思われる。今回, 模擬症例を用いながら,…”
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Are patients with severe epistaxis caused by hereditary hemorrhagic telangiectasia satisfied with nostril closure surgery?
Published in Auris, nasus, larynx (01-02-2012)“…Abstract Objective Recurrent epistaxis as a manifestation of hereditary hemorrhagic telangiectasia (HHT) is usually difficult to control. Although no treatment…”
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A case of autoimmune hepatitis with tuberculosis caused by prednisolone from undeterminable enzyme-linked immunospot assay
Published in Nippon Shōkakibyō Gakkai zasshi (2020)“…An 88-year-old woman was referred to our hospital for autoimmune hepatitis in 2016. She was treated with prednisolone. In 2018, she was rehospitalized owing to…”
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Public Assistance for Persons with Hearing Loss
Published in Audiology Japan (28-04-2022)Get full text
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Guidelines for the evaluation of hearing aid fitting (2010)
Published in Auris, nasus, larynx (01-06-2016)“…Abstract Objective The methods to evaluate the efficacy of the adjusted hearing aid for a hearing-impaired person are fitting tests. The tests include those…”
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