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Volumn 82, Issue 11, 2004, Pages 775-780

DFNA54, a third locus for low-frequency hearing loss

Author keywords

DFNA15; DFNA54; Low frequency hearing loss; Nonsyndromic hereditary hearing impairment

Indexed keywords

GENOMIC DNA;

EID: 11144301264     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-004-0597-1     Document Type: Article
Times cited : (24)

References (22)
  • 2
    • 0030707797 scopus 로고    scopus 로고
    • Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
    • Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278:1315-1318
    • (1997) Science , vol.278 , pp. 1315-1318
    • Lynch, E.D.1    Lee, M.K.2    Morrow, J.E.3    Welcsh, P.L.4    Leon, P.E.5    King, M.C.6
  • 5
    • 0035283066 scopus 로고    scopus 로고
    • WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
    • Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka, Y (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 10:477-484
    • (2001) Hum Mol Genet , vol.10 , pp. 477-484
    • Takeda, K.1    Inoue, H.2    Tanizawa, Y.3    Matsuzaki, Y.4    Oba, J.5    Watanabe, Y.6    Shinoda, K.7    Oka, Y.8
  • 6
    • 0041919371 scopus 로고    scopus 로고
    • Wolfram syndrome: Structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
    • Hofmann S, Philbrook C, Gerbitz KD, Bauer MF (2003) Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 12:2003-2012
    • (2003) Hum Mol Genet , vol.12 , pp. 2003-2012
    • Hofmann, S.1    Philbrook, C.2    Gerbitz, K.D.3    Bauer, M.F.4
  • 9
    • 12244305550 scopus 로고    scopus 로고
    • A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree
    • Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Chen Y, Zhang R et al (2002) A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. J Hum Genet 47:635-640
    • (2002) J Hum Genet , vol.47 , pp. 635-640
    • Xia, J.1    Deng, H.2    Feng, Y.3    Zhang, H.4    Pan, Q.5    Dai, H.6    Long, Z.7    Tang, B.8    Chen, Y.9    Zhang, R.10
  • 11
    • 0034917854 scopus 로고    scopus 로고
    • OCP1, an F-box protein, co-localizes with OCP2/SKP1 in the cochlear epithelial gap junction region
    • Henzl MT, O'Neal J, Killick R, Thalmann I, Thalmann R (2001) OCP1, an F-box protein, co-localizes with OCP2/SKP1 in the cochlear epithelial gap junction region. Hear Res 157:100-111
    • (2001) Hear Res , vol.157 , pp. 100-111
    • Henzl, M.T.1    O'Neal, J.2    Killick, R.3    Thalmann, I.4    Thalmann, R.5
  • 12
    • 0033015606 scopus 로고    scopus 로고
    • Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
    • Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192
    • (1999) Hum Genet , vol.104 , pp. 188-192
    • Usami, S.1    Abe, S.2    Weston, M.D.3    Shinkawa, H.4    Van Camp, G.5    Kimberling, W.J.6
  • 16
    • 0030724951 scopus 로고    scopus 로고
    • A novel gene involved in zinc transport is deficient in the lethal milk mouse
    • Huang L, Gitschier J (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nat Genet 17:292-297
    • (1997) Nat Genet , vol.17 , pp. 292-297
    • Huang, L.1    Gitschier, J.2
  • 18
    • 0036106166 scopus 로고    scopus 로고
    • K+ cycling and the endocochlear potential
    • Wangemann P (2002) K+ cycling and the endocochlear potential. Hear Res 165:1-9
    • (2002) Hear Res , vol.165 , pp. 1-9
    • Wangemann, P.1
  • 19
    • 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
    • Everett LA, Morsli H, Wu DK., Green ED (1999) 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 96:9727-9732
    • (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
  • 20
    • 0029917537 scopus 로고    scopus 로고
    • A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
    • Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R (1996) A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am J Med Genet 63:144-147
    • (1996) Am J Med Genet , vol.63 , pp. 144-147
    • Superti-Furga, A.1    Rossi, A.2    Steinmann, B.3    Gitzelmann, R.4
  • 21
    • 0028981920 scopus 로고
    • Human brain-specific L-proline transporter: Molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes
    • Shafqat S, Velaz-Faircloth M, Henzi VA, Whitney KD, Yang-Feng TL, Seldin MF, Fremeau RT Jr (1995) Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes. Mol Pharmacol 48:219-229
    • (1995) Mol Pharmacol , vol.48 , pp. 219-229
    • Shafqat, S.1    Velaz-Faircloth, M.2    Henzi, V.A.3    Whitney, K.D.4    Yang-Feng, T.L.5    Seldin, M.F.6    Fremeau Jr., R.T.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.