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Volumn 30, Issue 2, 2009, Pages 237-240

Functional studies reveal new mechanisms for deafness caused by connexin mutations

Author keywords

Biochemical coupling; Cochlea; Connexin; Gap junction; Genetic deafness

Indexed keywords

GAP JUNCTION PROTEIN; PROTEIN SUBUNIT; FLUORESCENT DYE; GJB6 PROTEIN, MOUSE; GLUCOSE;

EID: 64549086356     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/MAO.0b013e318194f774     Document Type: Article
Times cited : (7)

References (18)
  • 1
    • 0035985057 scopus 로고    scopus 로고
    • Structural and functional diversity of connexin genes in the mouse and human genome
    • Willecke K, Eiberger J, Degen J, et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002;383:725-37.
    • (2002) Biol Chem , vol.383 , pp. 725-737
    • Willecke, K.1    Eiberger, J.2    Degen, J.3
  • 2
    • 0028249690 scopus 로고
    • A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
    • Guilford P, Ben Arab S, Blanchard S, et al. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994;6:24-8.
    • (1994) Nat Genet , vol.6 , pp. 24-28
    • Guilford, P.1    Ben Arab, S.2    Blanchard, S.3
  • 3
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387:80-3.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 4
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non-syndromic neuro-sensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neuro-sensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3
  • 5
    • 0032846415 scopus 로고    scopus 로고
    • Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
    • Grifa A, Wagner CA, D'Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999;23:16-8.
    • (1999) Nat Genet , vol.23 , pp. 16-18
    • Grifa, A.1    Wagner, C.A.2    D'Ambrosio, L.3
  • 6
    • 0037046804 scopus 로고    scopus 로고
    • Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
    • Cohen-Salmon M, Ott T, Michel V, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 2002;12:1106-11.
    • (2002) Curr Biol , vol.12 , pp. 1106-1111
    • Cohen-Salmon, M.1    Ott, T.2    Michel, V.3
  • 7
    • 12244300886 scopus 로고    scopus 로고
    • Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
    • Teubner B, Michel V, Pesch J, et al. Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet 2003;12:13-21.
    • (2003) Hum Mol Genet , vol.12 , pp. 13-21
    • Teubner, B.1    Michel, V.2    Pesch, J.3
  • 8
    • 0043281578 scopus 로고    scopus 로고
    • The role of connexins in human disease
    • Chang EH, Van Camp G, Smith RJ. The role of connexins in human disease. Ear Hear 2003;24:314-23.
    • (2003) Ear Hear , vol.24 , pp. 314-323
    • Chang, E.H.1    Van Camp, G.2    Smith, R.J.3
  • 10
    • 27244452111 scopus 로고    scopus 로고
    • Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions
    • Zhang Y, Tang W, Ahmad S, et al. Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci U S A 2005;102:15201-6.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 15201-15206
    • Zhang, Y.1    Tang, W.2    Ahmad, S.3
  • 11
    • 12344304163 scopus 로고    scopus 로고
    • Beltramello M, Piazza V, Bukauskas FF, et al. Impaired permeability to Ins(1,4,5)P(3) in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 2005;7:63-9.
    • Beltramello M, Piazza V, Bukauskas FF, et al. Impaired permeability to Ins(1,4,5)P(3) in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 2005;7:63-9.
  • 12
    • 0038351949 scopus 로고    scopus 로고
    • Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice
    • Ahmad S, Chen S, Sun J, et al. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun 2003;307:362-8.
    • (2003) Biochem Biophys Res Commun , vol.307 , pp. 362-368
    • Ahmad, S.1    Chen, S.2    Sun, J.3
  • 13
    • 0242266904 scopus 로고    scopus 로고
    • Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals
    • Forge A, Becker D, Casalotti S, et al. Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals. J Comp Neurol 2003;467:207-31.
    • (2003) J Comp Neurol , vol.467 , pp. 207-231
    • Forge, A.1    Becker, D.2    Casalotti, S.3
  • 16
    • 0036106166 scopus 로고    scopus 로고
    • + cycling and the endocochlear potential. Hear Res 2002;165:1-9.
    • + cycling and the endocochlear potential. Hear Res 2002;165:1-9.
  • 17
    • 0032559798 scopus 로고    scopus 로고
    • Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
    • Gabriel HD, Jung D, Butzler C, et al. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 1998;140:1453-61.
    • (1998) J Cell Biol , vol.140 , pp. 1453-1461
    • Gabriel, H.D.1    Jung, D.2    Butzler, C.3
  • 18
    • 0034131103 scopus 로고    scopus 로고
    • Glucose transport and apoptosis
    • Moley KH, Mueckler MM. Glucose transport and apoptosis. Apoptosis 2000;5:99-105.
    • (2000) Apoptosis , vol.5 , pp. 99-105
    • Moley, K.H.1    Mueckler, M.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.