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Genetic analysis of deafness and clinical application

Research Project

Project/Area Number 12307036
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Otorhinolaryngology
Research InstitutionShinshu University

Principal Investigator

USAMI Shin-ichi  Shinshu University, School of Medicine, Professor, 医学部, 教授 (10184996)

Co-Investigator(Kenkyū-buntansha) MATSUBARA Atsushi  Hirosaki University, School of medicine, Lecturer, 医学部附属病院, 講師 (10260407)
甲田 英子  信州大学, 医学部付属病院, 助手 (20322133)
佐藤 圭司  信州大学, 医学部, 助手 (90293480)
Project Period (FY) 2000 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥43,500,000 (Direct Cost: ¥37,200,000、Indirect Cost: ¥6,300,000)
Fiscal Year 2003: ¥9,100,000 (Direct Cost: ¥7,000,000、Indirect Cost: ¥2,100,000)
Fiscal Year 2002: ¥9,100,000 (Direct Cost: ¥7,000,000、Indirect Cost: ¥2,100,000)
Fiscal Year 2001: ¥9,100,000 (Direct Cost: ¥7,000,000、Indirect Cost: ¥2,100,000)
Fiscal Year 2000: ¥16,200,000 (Direct Cost: ¥16,200,000)
Keywordsgene / deafness / genotype / phenotype correlations / genetic testing / genetic / counseling / PDS / KCNQ4 / COCH / KCNQ4遺伝子 / COCH遺伝子 / CX26遺伝子 / ミトコンドリア遺伝子 / DNAチップ / Cx26遺伝子
Research Abstract

The recent identification of various genes responsible for hearing loss has shed light on the mechanisms of hearing and enables the ENT clinician to apply molecular diagnosis by genetic testing. The present study was conducted to clarify the genetic background of deafness and to apply the basic science to the clinic. We focused on 1) new genes responsible for deafness, 2) the genetic epidemiology of deafness genes, 3) genotype/phenotype correlations, 4) genetic testing suitable for the clinical situation, 5) genetic counseling. In this study, among the genes highly expressed in the inner ear, we found new genes responsible for deafness, including mu-crystallin, KIAA-1199, COL9A3, and ATP1A2. By screening 2000 deafness patients, GJB2, PDS (SLC26A4), and the 1555A>G mitochondrial mutation were found to be the major causes of hearing loss in Japanese patients. Spectrums of GJB2 and PDS (SLC26A4) mutations found in the Japanese population, which is probably representative of other Asian populations, were quite different from those reported in the populations with European ancestry. This suggests that each racial population may have a unique epidemiology of deafness genes and the ethnic background of and individual should be borne in mind when genetic testing is performed.
Genotype/phenotype correlation found in the patients with GJB2 mutations was evaluated. In our series, the patients with the V37I mutation had a milder phenotype than those with 235delC mutation.
Therefore, evaluation of genotype of the patients could predict their hearing prognosis by genetic testing. We also established a screening system based on the invader assay and a genetic counseling section in Shinshu Univ. Hospital.

Report

(5 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • 2000 Annual Research Report
  • Research Products

    (84 results)

All Other

All Publications (84 results)

  • [Publications] Abe S: "Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues"Am J Hum Genet. 72(1). 73-82 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplification"J Hum Genet. 48(3). 142-149 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ohtsuka A: "GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation"Hum Genet. 112(4). 329-333 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Park HJ: "Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians : global implications for the epidemiology of deafness"J Med Genet. 40(4). 242-248 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease"Eur J Hum Genet. 11(10). 744-748 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss"J Hum Genet. 48(11). 564-570 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Tsukamoto K: "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"Eur J Hum Genet. 11(12). 916-922 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ishinaga H: "Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation"Head Neck. 24(7). 710-713 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Van Camp G: "A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment"Hum Mutat. 20(1). 15-19 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Yuge I: "Identification of 605ins46, a novel GJB2 mutation in a Japanese family"Auris Nasus Larynx. 29(4). 379-382 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami SI: "Molecular diagnosis of deafness : impact of gene identification"Audiol Neurootol. 7(3). 185-190 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sugata A: "High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations"Auris Nasus Larynx. 29(3). 231-239 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Iwasaki S: "Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing Loss"Otolaryngol Head Neck Surg. 128(8). 913-917 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] De Leenheer EM: "DFNA2/KCNQ4 and its manifestations"Adv Otorhinolaryngol. 61. 41-46 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Namba A: "Genetic features of hearing loss associated with ear anomalies : PDS and EYA1 mutation analysis"J Hum Genet. 46(9). 518-521 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation"Am J Med Genet. 103(4). 334-338 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Fukuda S: "A family affected by branchio-oto syndrome with EYA1 mutations"Auris Nasus Larynx. 28(Suppl). S7-S11 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Tono T: "Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation"ORL J Otorhinolaryngol Relat Spec. 63(1). 25-30 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Masuda M: "Connexin 26 distribution in gap junctions between melanocytes in the human vestibular dark cell area"Anat Rec. 262(2). 137-146 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Iwasaki S: "Long-term audiological feature in Pendred syndrome caused by PDS mutation"Arch Otolaryngol Head Neck Surg. 127(6). 705-708 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Akita I: "Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss : KCNQ4 is a gene responsible in Japanese"J Hum Genet. 46(7). 355-361 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Weston MD: "Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa"Am J Hum Genet. 66(4). 1199-1210 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Glutamate neurotransmission in the mammalian inner ear"in Handbook of Chemical Neuroanatomy. 18. 255-271 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Sensorineural hearing loss associated with the mitochondrial mutations"Adv Otorhinolaryngol. 56. 203-211 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Prevalent connexin 26 gene (GJB2) mutations in Japanese"J Med Genet. 37(1). 41-43 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Prevalence of mitochondrial gene mutations among hearing impaired patients"J Med Genet. 37(1). 38-40 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 宇佐美 真一: "遺伝カウンセリングマニュアル(福嶋義光編):耳鼻科疾患"本郷 允彦. 1-360 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues"Am J Hum Genet. 72(1). 73-82 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplification"J Hum Genet. 48(3). 142-149 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ohtsuka A: "GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation"Hum Genet. 112(4). 329-333 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Park HJ: "Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians : global implications for the epidemiology of deafness"J Med Genet. 40(4). 242-248 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease"Eur J Hum Genet. 11(10). 744-748 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss"J Hum Genet. 48(11). 564-570 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Tsukamoto K: "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"Eur J Hum Genet. 11(12). 916-922 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ishinaga H: "Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation"Head Neck. 24(7). 710-713 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Van Camp G: "A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment"Hum Mutat. 20(1). 15-19 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Yuge I: "Identification of 605ins46, a novel GJB2 mutation in a Japanese family"Auris Nasus Larynx. 29(4). 379-382 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami SI: "Molecular diagnosis of deafness : impact of gene identification"Audiol Neurootol. 7(3). 185-190 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sugata A: "High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations"Auris Nasus Larynx. 29(3). 231-239 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Iwasaki S: "Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing Loss"Arch Otolaryngol Head Neck Surg. 128(8). 913-917 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] De Leenheer EM: "DFNA2/KCNQ4 and its manifestations"Adv Otorhinolaryngol. 61. 41-46 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Namba A: "Genetic features of hearing loss associated with ear anomalies : PDS and EYA1 mutation analysis"J Hum Genet. 46(9). 518-521 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation"Am J Med Genet. 103(4). 334-338 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Fukuda S: "A family affected by branchio-oto syndrome with EYA1 mutations"Auris Nasus Larynx. 28(Suppl). S7-S11 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Tono T: "Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A-->G mitochondrial mutation"ORL J Otorhinolaryngol Relat Spec. 63(1). 25-30 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Masuda M: "Connexin 26 distribution in gap junctions between melanocytes in the human vestibular dark cell area"Anat Rec. 262(2). 137-146 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Iwasaki S: "Long-term audiological feature in Pendred syndrome caused by PDS mutation"Arch Otolaryngol Head Neck Surg. 127(6). 705-708 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Akita J: "Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss : KCNQ4 is a gene responsible in Japanese"J Hum Genet. 47(7). 355-361 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Weston MD: "Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa"Am J Hum Genet. 66(4). 1199-1210 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Glutamate neurotransmission in the mammalian inner ear"Handbook of Chemical Neuroanatomy (eds. Otterson OP & Storm-Mathisen J). Vol.18. 255-271 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Sensorineural hearing loss associated with the mitochondrial mutations"Adv Otorhinolaryngol. 56. 203-211 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Prevalent connexin 26 gene (GJB2) mutations in Japanese"J Med Genet. 37(1). 41-43 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Usami S: "Prevalence of mitochondrial gene mutations among hearing impaired patients"j Med Genet. 37(1). 38-40 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Abe S: "Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplification"J Hum Genet. 48・3. 142-149 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Park HJ: "Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians : global implications for the epidemiology of deafness"J Med Genet. 40・4. 242-248 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Usami S: "Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease"Eur J Hum Genet. 11・10. 744-748 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Abe S: "Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss"J Hum Genet. 48・11. 564-570 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Tsukamoto K: "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"Eur J Hum Gene. 11・12. 916-922 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 宇佐美 真一: "遺伝カウンセリングマニュアル(福嶋義光編) : 耳鼻科疾患"本郷 允彦. 1,360 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Ohtsuka A, Yuge I, Kimura S, Namba A, Abe S, Van Laer L, Van Camp G, Usami S.: "GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation"Hum Genet. 112・4. 329-333 (2003)

    • Related Report
      2002 Annual Research Report
  • [Publications] Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T, Nakamura Y.: "Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues"Am J Hum Genet. 72・1. 73-82 (2003)

    • Related Report
      2002 Annual Research Report
  • [Publications] Usami SI, Koda E, Tsukamoto K, Otsuka A, Yuge I, Asamura K, Abe S, Akita J, Namba A.: "Molecular diagnosis of deafness : impact of gene identification"Audiol Neurootol. 7・3. 185-190 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Iwasaki S, Harada D, Usami S, Nagura M, Takeshita T, Hoshino T.: "Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing Loss"Arch Otolaryngol Head Neck Surg. 128・8. 913-917 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] De Leenheer EM, Ensink RJ, Kunst HP, Marres HA, Talebizadeh Z, Declau F, Smith SD, Usami S, Van de Heyning PH, Van Camp G, Huygen PL, Cremers CW.: "DFNA2/KCNQ4 and its manifestations"Adv Otorhinolaryngol. 61. 41-46 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Yuge I, Ohtsuka A, Matsunaga T, Usami S.: "Identification of 605ins46, a novel GJB2 mutation in a Japanese family"Auris Nasus Larynx. 29・4. 379-382 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Iwasaki S, Harada D, Usami S, Nagura M, Takeshita T, Hoshino T.: "Association of Clinical Features with Mutation of TECTA in an Autosomal Dominant Hearing Loss Family"Arch Otolaryngol Head Neck Surg 2002. (in press). (2002)

    • Related Report
      2001 Annual Research Report
  • [Publications] Usami S, Koda E, Tsukamoto K, Otsuka A, Yuge I, Asamura K.: "Molecular diagnosisi of deafness-impact of gene identification"Audiology & Neurootology 2002. (in press). (2002)

    • Related Report
      2001 Annual Research Report
  • [Publications] Ishinaga H, Shimizu T, Yuta A, Usami S, Tsukamoto K, Majima Y.: "endred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation"Head and Neck 2002. (in press). (2002)

    • Related Report
      2001 Annual Research Report
  • [Publications] Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S.: "Leenheer EMRD, Huygen PLM, Cremers CWRJ, Usami S. A mutational hot spot in the KCNQ4 gene, responsible for autosomal dominant hearing impairment"Human Mutation 2002. (in press). (2002)

    • Related Report
      2001 Annual Research Report
  • [Publications] Akita J, Abe S, Shinkawa H, Kimberling WJ, Usami S: "Clinical and genetic features of non-syndromic autosomal dominant sensorineural hearing loss : KCNQ4 is a responsible gene in Japanese"J Hum Genet. 46. 355-361 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T.: "Long-term audiological feature in Pendred syndrome caused by PDS mutation"Arch Otolaryngol Head Neck Surg. 127(6). 705-708 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Masuda M, Usami S, Yamazaki K, Takumi Y, Shinkawa H, Kurashima K, Kunihiro T, Kanzaki J.: "Connexin 26 distribution in gap junctions between melanocytes in the human vestibular dark cell area"Anat Rec. 262(2). 137-146 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Takumi Y, Matsubara A, Tsuchida S, Ottersen OP, Shinkawa H, Usami S.: "Takumi Y, Matsubara A, Tsuchida S, Ottersen OP, Shinkawa H, Usami S."Neuroreport. 12(7). 1513-1516 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Tono T, Kiyomizu K, Matsuda K, Komune S, Usami S, Abe S, Shinkawa H.: "Different Clinical Characteristics of Aminoglycoside-Induced Profound Deafness with and without the 1555A->G Mitochondrial Mutation"ORL. 63. 25-30 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI.: "enetic features of hearing loss associated with ear anomalies : PDS and EYA1 mutation analysis"J Hum Genet. 46(9). 518-521 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Abe S, Kelley PM, Kinberling WJ, Usami Si S: "Connexin 26 gene(GJB2)mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation"Am J Med Genet. 103(4). 334-338 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fukuda S, Kuroda T, Chida E, Shimizu R, Usami S, Koda E, Abe S, Namba A, Kitamura K, Inuyama Y.: "A family affected by branchio-oto syndrome with EYA1 mutations"Auris Nasus Larynx. 28(Suppl). S7-S11 (2001)

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      2001 Annual Research Report
  • [Publications] Akita J,Abe S,Shinkawa H,Kimberling WJ,Usami S.: "Clinical and genetic features of non-syndromic autosomal dominant sensorineural hearing loss : KCNQ4 is a responsible gene in Japanese."J Hum Gent. (in press).

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      2000 Annual Research Report
  • [Publications] Namba A,Abe S,Shinkawa H,Kimberling WJ,Usami S.: "Genetic features of hearing loss associated with ear anomaly."J Hum Gent. (in press).

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      2000 Annual Research Report
  • [Publications] Tono T,Kiyomizu K,Matsuda K,Komune S,Usami S,Abe S,Shinkawa H.: "Different Clinical Characteristics of Aminoglycoside-Induced Profound Deafness with and without the 1555A->G Mitochondrial Mutation."ORL. 63. 25-30 (2001)

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      2000 Annual Research Report
  • [Publications] Weston MD,Eudy JD,Fujita S,Yao S,Usami S,Cremers C,Greenburg J,Ramesar R,Martini A,Moller C,Smith RJ,Sumegi J,Kimberling WJ.: "Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa."Am J Hum Genet. 66. 1199-1210 (2000)

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      2000 Annual Research Report
  • [Publications] Abe S,Usami S,Shinkawa H,Kelley PM,Kimberling WJ.: "Prevalent connexin 26 gene (GJB2) mutations in Japanese."J Med Genet. 37. 41-43 (2000)

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      2000 Annual Research Report
  • [Publications] Usami S,Abe S,Akita J,Namba A,Shinkawa H et al.: "Prevalence of mitochondrial gene mutations among hearing impaired patients."J Med Genet. 37. 38-40 (2000)

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      2000 Annual Research Report
  • [Publications] Usami S,Abe S,Akita J,Shinkawa H,Kimberling WJ.: "Sensorineural hearing loss associated with the mitochondrial mutations. In "Genetics in Otorhinolaryngology" Adv Otorhinolaryngol, Vol.56"Kitamura K & SteelKP/Karger. 9 (2000)

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Published: 2000-04-01   Modified: 2016-04-21  

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