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Volumn 15, Issue 5, 2011, Pages 365-368

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis

Author keywords

[No Author keywords available]

Indexed keywords

PENDRIN; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNJ10; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXI1; UNCLASSIFIED DRUG;

EID: 79956150540     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0177     Document Type: Article
Times cited : (9)

References (18)
  • 1
    • 48249155076 scopus 로고    scopus 로고
    • Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger pendrin gene
    • Adler L, Efrati E, Zelikovic I (2008) Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene. Am J Physiol 294:C1261-C1276.
    • (2008) Am. J. Physiol. , vol.294
    • Adler, L.1    Efrati, E.2    Zelikovic, I.3
  • 3
    • 36349009217 scopus 로고    scopus 로고
    • Genotype-phenotype correlations for SLC26A4-related deafness
    • Azaiez H, Yang T, Prasad S, et al. (2007) Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet 122:451-457.
    • (2007) Hum. Genet. , vol.122 , pp. 451-457
    • Azaiez, H.1    Yang, T.2    Prasad, S.3
  • 5
    • 72749088921 scopus 로고    scopus 로고
    • Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes
    • Choi BY, Madeo AC, King KA, et al. (2009) Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet 46:856-861.
    • (2009) J. Med. Genet. , vol.46 , pp. 856-861
    • Choi, B.Y.1    Madeo, A.C.2    King, K.A.3
  • 6
    • 7144261720 scopus 로고    scopus 로고
    • Molecular analysis of the PDS gene in pendred syndrome
    • Coyle B, Reardon W, Herbrick JA, et al. (1998) Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 7:1105-1112.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1105-1112
    • Coyle, B.1    Reardon, W.2    Herbrick, J.A.3
  • 8
    • 76249085928 scopus 로고    scopus 로고
    • SLC26A4 genotype but not cochlear radiologic structure is correlated with hearing loss in ears with an enlarged vestibular aqueduct
    • King KA, Choi BY, Zalewski C, et al. (2010) SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope 120:384-389.
    • (2010) Laryngoscope , vol.120 , pp. 384-389
    • King, K.A.1    Choi, B.Y.2    Zalewski, C.3
  • 10
    • 62149125915 scopus 로고    scopus 로고
    • Rapid sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis
    • Millat G, Chanavat V, Rodriguez-Lafrasse C, et al. (2009) Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis. Clin Biochem 42:491-499.
    • (2009) Clin. Biochem. , vol.42 , pp. 491-499
    • Millat, G.1    Chanavat, V.2    Rodriguez-Lafrasse, C.3
  • 11
    • 34249877249 scopus 로고    scopus 로고
    • Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis
    • DOI 10.1038/nprot.2007.10, PII NPROT.2007.10
    • Montgomery J, Wittwer CT, Palais R, et al. (2007) Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis. Nat Protoc 2:59-66. (Pubitemid 47040069)
    • (2007) Nature Protocols , vol.2 , Issue.1 , pp. 59-66
    • Montgomery, J.1    Wittwer, C.T.2    Palais, R.3    Zhou, L.4
  • 12
    • 48249097878 scopus 로고    scopus 로고
    • A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of pendred syndrome and DFNB4 hearing loss
    • Pera A, Villamar M, Vinuela A, et al. (2008) A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. Eur J Hum Genet 16:888-896.
    • (2008) Eur. J. Hum. Genet. , vol.16 , pp. 888-896
    • Pera, A.1    Villamar, M.2    Vinuela, A.3
  • 15
    • 34250658870 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis for simple and efficient molecular diagnostics
    • DOI 10.2217/14622416.8.6.597
    • Reed GH, Kent JO, Wittwer CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597-608. (Pubitemid 46939585)
    • (2007) Pharmacogenomics , vol.8 , Issue.6 , pp. 597-608
    • Reed, G.H.1    Kent, J.O.2    Wittwer, C.T.3
  • 17
    • 65549110378 scopus 로고    scopus 로고
    • Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome
    • Yang T, Gurrola JG, 2nd, Wu H, et al. (2009) Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet 84:651-657.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 651-657
    • Yang, T.1    Gurrola II, J.G.2    Wu, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.