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Volumn 62, Issue 4, 1998, Pages 792-799

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

EID: 0031949442     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301807     Document Type: Article
Times cited : (447)

References (26)
  • 1
    • 0029974655 scopus 로고    scopus 로고
    • Connections with connexins: The molecular basis of direct intercellular signaling
    • Bruzzone R, White TW, Paul DL (1996) Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 238:1-27
    • (1996) Eur J Biochem , vol.238 , pp. 1-27
    • Bruzzone, R.1    White, T.W.2    Paul, D.L.3
  • 2
    • 0028018967 scopus 로고
    • Null mutations of connexin 32 in patients with X-linked Charcot-Marie-Tooth disease
    • Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL (1994) Null mutations of connexin 32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13: 1253-1260
    • (1994) Neuron , vol.13 , pp. 1253-1260
    • Bruzzone, R.1    White, T.W.2    Scherer, S.S.3    Fischbeck, K.H.4    Paul, D.L.5
  • 3
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: Implications for genetic studies in isolated populations
    • Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163-2172
    • (1997) Hum Mol Genet , vol.6 , pp. 2163-2172
    • Carrasquillo, M.M.1    Zlotogora, J.2    Barges, S.3    Chakravarti, A.4
  • 4
    • 0028555358 scopus 로고
    • A gene responsible for a dominant form of neurosensory nonsyndromic deafness maps to the NSRD1 recessive deafness gene interval
    • Chaib H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgen A, Petit C (1994) A gene responsible for a dominant form of neurosensory nonsyndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 3:2219-2222
    • (1994) Hum Mol Genet , vol.3 , pp. 2219-2222
    • Chaib, H.1    Lina-Granade, G.2    Guilford, P.3    Plauchu, H.4    Levilliers, J.5    Morgen, A.6    Petit, C.7
  • 7
    • 0027410499 scopus 로고
    • Gap junctions in the brain: Where, what type, how many, and why?
    • Dermietzel R, Spray DC (1993) Gap junctions in the brain: where, what type, how many, and why? Trends Neurosci 16:186-192
    • (1993) Trends Neurosci , vol.16 , pp. 186-192
    • Dermietzel, R.1    Spray, D.C.2
  • 8
    • 0028284598 scopus 로고
    • Role of histidine 95 on pH gating of the cardiac gap junction protein connexin 43
    • Ek JF, Delmar M, Perzova R, Taffet SM (1994) Role of histidine 95 on pH gating of the cardiac gap junction protein connexin 43. Circ Res 74:1058-1064
    • (1994) Circ Res , vol.74 , pp. 1058-1064
    • Ek, J.F.1    Delmar, M.2    Perzova, R.3    Taffet, S.M.4
  • 9
    • 0040150061 scopus 로고
    • Coordination of vertebrate cellular assemblies by gap junctions
    • Katz LC (1995) Coordination of vertebrate cellular assemblies by gap junctions. Semin Dev Biol 6:117-125
    • (1995) Semin Dev Biol , vol.6 , pp. 117-125
    • Katz, L.C.1
  • 11
    • 0028843286 scopus 로고
    • Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
    • Berl
    • Kikuchi T, Kimura RS, Paul DL, Adams JC (1995) Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 191:101-118
    • (1995) Anat Embryol , vol.191 , pp. 101-118
    • Kikuchi, T.1    Kimura, R.S.2    Paul, D.L.3    Adams, J.C.4
  • 12
    • 0026813055 scopus 로고
    • Molecular biology and genetics of gap junction channels
    • Kumar NM, Gilula NB (1992) Molecular biology and genetics of gap junction channels. Semin Cell Biol 3:3-16
    • (1992) Semin Cell Biol , vol.3 , pp. 3-16
    • Kumar, N.M.1    Gilula, N.B.2
  • 13
    • 0030028301 scopus 로고    scopus 로고
    • The gap junction communication channel
    • _ (1996) The gap junction communication channel. Cell 84:381-388
    • (1996) Cell , vol.84 , pp. 381-388
  • 14
    • 0029776697 scopus 로고    scopus 로고
    • The life cycle of a connexin: Gap junction formation removal and degradation
    • Laird DW (1996) The life cycle of a connexin: gap junction formation removal and degradation. J Bioenerg Biomembr 28:311-318
    • (1996) J Bioenerg Biomembr , vol.28 , pp. 311-318
    • Laird, D.W.1
  • 15
    • 0026646956 scopus 로고
    • Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines
    • Lee SW, Tomasetto C, Paul D, Keyomarsi K, Sager R (1992) Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines. J Cell Biol 118:1213-1221
    • (1992) J Cell Biol , vol.118 , pp. 1213-1221
    • Lee, S.W.1    Tomasetto, C.2    Paul, D.3    Keyomarsi, K.4    Sager, R.5
  • 16
    • 0029143157 scopus 로고
    • New functions for gap junctions
    • Paul DL (1995) New functions for gap junctions. Curr Opin Cell Biol 7:665-672
    • (1995) Curr Opin Cell Biol , vol.7 , pp. 665-672
    • Paul, D.L.1
  • 17
    • 0026566346 scopus 로고
    • A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32
    • Rubin JB, Verselis VK, Bennett MVL, Bargiello TA (1992) A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32. Proc Natl Acad Sci USA 89:3820-3824
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 3820-3824
    • Rubin, J.B.1    Verselis, V.K.2    Bennett, M.V.L.3    Bargiello, T.A.4
  • 20
    • 0030271580 scopus 로고    scopus 로고
    • The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency
    • Spicer SS, Schulte BA (1996) The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency. Hear Res 100:80-100
    • (1996) Hear Res , vol.100 , pp. 80-100
    • Spicer, S.S.1    Schulte, B.A.2
  • 21
    • 0030946546 scopus 로고    scopus 로고
    • Nonsyndromic hearing impairment: Unparalleled heterogeneity
    • Van Camp G, Willems PJ, Smith RJH (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 60:758-764
    • (1997) Am J Hum Genet , vol.60 , pp. 758-764
    • Van Camp, G.1    Willems, P.J.2    Smith, R.J.H.3
  • 22
    • 0028299152 scopus 로고
    • Opposite voltage gating polarities of two closely related connexins
    • Verselis VK, Ginter CS, Bargiello TA (1994) Opposite voltage gating polarities of two closely related connexins. Nature 368:348-351
    • (1994) Nature , vol.368 , pp. 348-351
    • Verselis, V.K.1    Ginter, C.S.2    Bargiello, T.A.3
  • 23
    • 0029743057 scopus 로고    scopus 로고
    • Multiple connexin proteins in single intercellular channels: Connexin compatibility and functional consequences
    • White TW, Bruzzone R (1996) Multiple connexin proteins in single intercellular channels: connexin compatibility and functional consequences. J Bioenerg Biomembr 28:339-350
    • (1996) J Bioenerg Biomembr , vol.28 , pp. 339-350
    • White, T.W.1    Bruzzone, R.2
  • 24
    • 0029163247 scopus 로고
    • The connexin family of intercellular channel forming proteins
    • White TW, Bruzzone R, Paul DL (1995) The connexin family of intercellular channel forming proteins. Kidney Int 48: 1148-1157
    • (1995) Kidney Int , vol.48 , pp. 1148-1157
    • White, T.W.1    Bruzzone, R.2    Paul, D.L.3
  • 25
    • 9844245885 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, et al (1997) Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3    Melchionda, S.4    D'Agruma, L.5    Govea, N.6    Mila, M.7
  • 26
    • 0028256347 scopus 로고
    • The topological structure of connexin 26 and its distribution compared to connexin 32 in hepatic gap junctions
    • Zhang J-T, Nicholson BJ (1994) The topological structure of connexin 26 and its distribution compared to connexin 32 in hepatic gap junctions. J Membr Biol 139:15-29
    • (1994) J Membr Biol , vol.139 , pp. 15-29
    • Zhang, J.-T.1    Nicholson, B.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.