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Volumn 6, Issue , 2008, Pages

Molecular etiology of hearing impairment in Inner Mongolia: Mutations in SLC26A4 gene and relevant phenotype analysis

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CONNEXIN 26; CYSTEINE; GLYCINE; MEMBRANE PROTEIN; PROTEIN SLC26A4; THREONINE; THYROID HORMONE; UNCLASSIFIED DRUG; CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

EID: 59349086651     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-6-74     Document Type: Article
Times cited : (55)

References (35)
  • 1
    • 29344434691 scopus 로고    scopus 로고
    • A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment
    • Davis A bamford J wilson I Ramkalawan T Forshaw M Wright S A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment Health Technol Assess 1997, 1(10):1-176
    • (1997) Health Technol Assess , vol.1 , Issue.10 , pp. 1-176
    • Davis, A.1    Bamford, J.2    Wilson, I.3    Ramkalawan, T.4    Forshaw, M.5    Wright, S.6
  • 2
    • 59349095660 scopus 로고    scopus 로고
    • Personal Health; Early Detection of Infant Deafness Is Vital
    • Sunday, July 09, 2006
    • Brody JE Personal Health; Early Detection of Infant Deafness Is Vital Quated by The New York Times-Health 2000. Sunday, July 09, 2006
    • (2000) Quated By The New York Times-Health
    • Brody, J.E.1
  • 4
    • 0001639812 scopus 로고    scopus 로고
    • Epidemiology, etiology and genetic patterns
    • Oxford University Press, Oxford Gorlin RJ, Toriello HV, Cohen MM
    • Cohen MM Gorlin RJ Epidemiology, etiology and genetic patterns Hereditary hearing loss and its snydromes Oxford University Press, Oxford Gorlin RJ, Toriello HV, Cohen MM 9-21
    • Hereditary Hearing Loss and Its Snydromes , pp. 9-21
    • Cohen, M.M.1    Gorlin, R.J.2
  • 6
    • 0345055300 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
    • 10.1016/S0140-6736(98)24006-2 9482297
    • Lench N Houseman M Newton V Van Camp G Mueller R Connexin-26 mutations in sporadic non-syndromal sensorineural deafness Lancet 1998, 351:415 10.1016/S0140-6736(98)24006-2 9482297
    • (1998) Lancet , vol.351 , pp. 415
    • Lench, N.1    Houseman, M.2    Newton, V.3    Van Camp, G.4    Mueller, R.5
  • 8
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • 10.1097/00005537-200009000-00023 10983956
    • Park HJ Hahn SH Chun YM Park K Kim HN Connexin26 mutations associated with nonsyndromic hearing loss Laryngoscope 2000, 110:1535-1538 10.1097/ 00005537-200009000-00023 10983956
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 11
    • 0035375301 scopus 로고    scopus 로고
    • Mutations in the connexin26/GJB2 gene are the most common event in nonsyndromic hearing loss among the German population
    • 10.1002/humu.1138 11385713
    • Gabriel H Kupsch P Sudendey J Winterhager E Jahnke K Lautermann J Mutations in the connexin26/GJB2 gene are the most common event in nonsyndromic hearing loss among the German population Hum Mutat 2001, 17:521-522 10.1002/humu.1138 11385713
    • (2001) Hum Mutat , vol.17 , pp. 521-522
    • Gabriel, H.1    Kupsch, P.2    Sudendey, J.3    Winterhager, E.4    Jahnke, K.5    Lautermann, J.6
  • 12
    • 0038237455 scopus 로고    scopus 로고
    • GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
    • 12560944
    • 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 2003, 112:329-333 12560944
    • (2003) Hum Genet , vol.112 , pp. 329-333
    • Ohtsuka, A.1    Yuge, I.2    Kimura, S.3    Namba, A.4    Abe, S.5    Van Laer, L.6    Van Camp, G.7    Usami, S.8
  • 15
    • 13444254030 scopus 로고    scopus 로고
    • SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and nonsyndromic EVA are distinct clinical and genetic entities
    • 1735974 15689455 10.1136/jmg.2004.024208
    • Pryor SP Madeo AC Reynolds JC Sarlis NJ Arnos KS Nance WE Yang Y Zalewski CK Brewer CC Butman JA Griffith AJ SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and nonsyndromic EVA are distinct clinical and genetic entities J Med Genet 2005, 42:159-165 1735974 15689455 10.1136/jmg.2004.024208
    • (2005) J Med Genet , vol.42 , pp. 159-165
    • Pryor, S.P.1    Madeo, A.C.2    Reynolds, J.C.3    Sarlis, N.J.4    Arnos, K.S.5    Nance, W.E.6    Yang, Y.7    Zalewski, C.K.8    Brewer, C.C.9    Butman, J.A.10    Griffith, A.J.11
  • 17
    • 0017973478 scopus 로고
    • The large vestibular aqueduct syndrome
    • 306012
    • Valvassori GE Clemis JD The large vestibular aqueduct syndrome Laryngoscope 1978, 88:723-728 306012
    • (1978) Laryngoscope , vol.88 , pp. 723-728
    • Valvassori, G.E.1    Clemis, J.D.2
  • 20
    • 0033578352 scopus 로고    scopus 로고
    • Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
    • 22278 10449762 10.1073/pnas.96.17.9727
    • Everett LA Morsli H Wu DK Green ED Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear Proc Natl Acad Sci USA 1999, 96:9727-9732 22278 10449762 10.1073/pnas.96.17.9727
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 9727-9732
    • Everett, L.A.1    Morsli, H.2    Wu, D.K.3    Green, E.D.4
  • 21
    • 0034463973 scopus 로고    scopus 로고
    • Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
    • 10.1210/en.141.2.839 10650967
    • Royaux IE Suzuki K Mori A Katoh R Everett LA Kohn LD Green ED Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells Endocrinology 2000, 141:839-845 10.1210/en.141.2.839 10650967
    • (2000) Endocrinology , vol.141 , pp. 839-845
    • Royaux, I.E.1    Suzuki, K.2    Mori, A.3    Katoh, R.4    Everett, L.A.5    Kohn, L.D.6    Green, E.D.7
  • 22
    • 0035034863 scopus 로고    scopus 로고
    • Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
    • 10.1002/humu.1116 11317356
    • Campbell C Cucci RA Prasad S Green GE Edeal JB Galer CE Karniski LP Sheffield VC Smith RJ Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations Hum Mutat 2001, 17:403-411 10.1002/humu.1116 11317356
    • (2001) Hum Mutat , vol.17 , pp. 403-411
    • Campbell, C.1    Cucci, R.A.2    Prasad, S.3    Green, G.E.4    Edeal, J.B.5    Galer, C.E.6    Karniski, L.P.7    Sheffield, V.C.8    Smith, R.J.9
  • 25
    • 0942287860 scopus 로고    scopus 로고
    • Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
    • 10.1002/ajmg.a.20272
    • Prasad S Kolln KA Cucci RA Trembath RC Van Camp G Smith RJ Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations Am J Med Genet A 2004, 124:1-9 10.1002/ajmg.a.20272
    • (2004) Am J Med Genet A , vol.124 , pp. 1-9
    • Prasad, S.1    Kolln, K.A.2    Cucci, R.A.3    Trembath, R.C.4    Van Camp, G.5    Smith, R.J.6
  • 29
    • 0346025681 scopus 로고    scopus 로고
    • 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
    • 10.1038/sj.ejhg.5201073 14508505
    • Tsukamoto K Suzuki H Harada D Namba A Abe S Usami S 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 2003, 11:916-922 10.1038/sj.ejhg.5201073 14508505
    • (2003) Eur J Hum Genet , vol.11 , pp. 916-922
    • Tsukamoto, K.1    Suzuki, H.2    Harada, D.3    Namba, A.4    Abe, S.5    Usami, S.6
  • 30
    • 84984550566 scopus 로고    scopus 로고
    • Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation
    • 10.1097/01.MLG.0000163339.61909.D0 15933521
    • Wu CC Yeh TH Chen PJ Hsu CJ Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation Laryngoscope 2005, 115:1060-1064 10.1097/01.MLG.0000163339.61909.D0 15933521
    • (2005) Laryngoscope , vol.115 , pp. 1060-1064
    • Wu, C.C.1    Yeh, T.H.2    Chen, P.J.3    Hsu, C.J.4
  • 31
    • 0026569243 scopus 로고
    • Largevestibular aqueduct syndrome and congenital sensorineural hearing loss
    • 1566730
    • Mafee MF Charletta D Kumar A Belmont H Largevestibular aqueduct syndrome and congenital sensorineural hearing loss AJNR 1992, 13:805 1566730
    • (1992) AJNR , vol.13 , pp. 805
    • Mafee, M.F.1    Charletta, D.2    Kumar, A.3    Belmont, H.4
  • 32
  • 33
    • 6944226484 scopus 로고    scopus 로고
    • GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China
    • 10.1016/j.heares.2004.06.012 15504600
    • Shi GZ Gong LX Xu XH Nie WY Lin Q Qi YS GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China Hear Res 2004, 197:19-23 10.1016/j.heares.2004.06.012 15504600
    • (2004) Hear Res , vol.197 , pp. 19-23
    • Shi, G.Z.1    Gong, L.X.2    Xu, X.H.3    Nie, W.Y.4    Lin, Q.5    Qi, Y.S.6
  • 34
    • 0037959640 scopus 로고    scopus 로고
    • Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice
    • 10.1242/dev.00376 12642503
    • Hulander M Kiernan AE Blomqvist SR Carlsson P Samuelsson EJ Johansson BR Steel KP Enerbäck S Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice Development 2003, 130:2013-2025 10.1242/dev.00376 12642503
    • (2003) Development , vol.130 , pp. 2013-2025
    • Hulander, M.1    Kiernan, A.E.2    Blomqvist, S.R.3    Carlsson, P.4    Samuelsson, E.J.5    Johansson, B.R.6    Steel, K.P.7    Enerbäck, S.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.