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Volumn 77, Issue 6, 2005, Pages 945-957

GJB2 mutations and degree of hearing loss: A multicenter study

(64)  Snoeckx, Rikkert L a   Huygen, Patrick L M c   Feldmann, Delphine d   Marlin, Sandrine d   Denoyelle, Françoise d   Waligora, Jaroslaw e,f   Mueller Malesinska, Malgorzata f   Pollak, Agneszka g   Ploski, Rafal e   Murgia, Alessandra h   Orzan, Eva i   Castorina, Pierangela j   Ambrosetti, Umberto k   Nowakowska Szyrwinska, Ewa e   Bal, Jerzy e   Wiszniewski, Wojciech e   Janecke, Andreas R l   Nekahm Heis, Doris l   Seeman, Pavel m   Bendova, Olga n   more..


Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

EID: 28144444402     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/497996     Document Type: Article
Times cited : (451)

References (52)
  • 2
    • 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, Lin X (2003) Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun 307:362-368
    • (2003) Biochem Biophys Res Commun , vol.307 , pp. 362-368
    • Ahmad, S.1    Chen, S.2    Sun, J.3    Lin, X.4
  • 3
    • 0038701033 scopus 로고    scopus 로고
    • De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome
    • Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, Moreno R, Tapia MC (2003) De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. Am J Med Genet A 117:89-91
    • (2003) Am J Med Genet A , vol.117 , pp. 89-91
    • Alvarez, A.1    Del Castillo, I.2    Pera, A.3    Villamar, M.4    Ma, M.-P.5    Moreno, F.6    Moreno, R.7    Tapia, M.C.8
  • 4
    • 12344304163 scopus 로고    scopus 로고
    • Impaired permeability to ins(1,4,5)p3 in a mutant connexin underlies recessive hereditary deafness
    • Beltramello M, Piazza V, Bukauskas FF, Pozzan T, Mammano F (2005) Impaired permeability to ins(1,4,5)p3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 7:63-69
    • (2005) Nat Cell Biol , vol.7 , pp. 63-69
    • Beltramello, M.1    Piazza, V.2    Bukauskas, F.F.3    Pozzan, T.4    Mammano, F.5
  • 6
    • 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
  • 7
    • 0030659574 scopus 로고    scopus 로고
    • Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development
    • Choudhry R, Pitts JD, Hodgins MB (1997) Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development. Dev Dyn 210:417-430
    • (1997) Dev Dyn , vol.210 , pp. 417-430
    • Choudhry, R.1    Pitts, J.D.2    Hodgins, M.B.3
  • 12
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353:1298-1303
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.N.6    Petit, C.7
  • 15
    • 0033575109 scopus 로고    scopus 로고
    • Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
    • Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ (1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281:2211-2216
    • (1999) JAMA , vol.281 , pp. 2211-2216
    • Green, G.E.1    Scott, D.A.2    McDonald, J.M.3    Woodworth, G.G.4    Sheffield, V.C.5    Smith, R.J.6
  • 16
    • 0033838433 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT
    • Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats B, Berlin CI, Morell RJ, Friedman TB (2000) Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. Am J Hum Genet 67:745-749
    • (2000) Am J Hum Genet , vol.67 , pp. 745-749
    • Griffith, A.J.1    Chowdhry, A.A.2    Kurima, K.3    Hood, L.J.4    Keats, B.5    Berlin, C.I.6    Morell, R.J.7    Friedman, T.B.8
  • 17
    • 0035235235 scopus 로고    scopus 로고
    • Exploring hemichannel permeability in vitro
    • Harris AL, Bevans CG (2001) Exploring hemichannel permeability in vitro. Methods Mol Biol 154:357-377
    • (2001) Methods Mol Biol , vol.154 , pp. 357-377
    • Harris, A.L.1    Bevans, C.G.2
  • 18
    • 0034099846 scopus 로고    scopus 로고
    • A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
    • Heathcote K, Syrris P, Carter ND, Patton MA (2000) A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 37:50-51
    • (2000) J Med Genet , vol.37 , pp. 50-51
    • Heathcote, K.1    Syrris, P.2    Carter, N.D.3    Patton, M.A.4
  • 24
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • Kenneson A, Van Naarden Braun K, Boyle C (2002) GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4:258-274
    • (2002) Genet Med , vol.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden Braun, K.2    Boyle, C.3
  • 25
    • 0028843286 scopus 로고
    • Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
    • 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 (Berl) , vol.191 , pp. 101-118
    • Kikuchi, T.1    Kimura, R.S.2    Paul, D.L.3    Adams, J.C.4
  • 27
    • 0035513485 scopus 로고    scopus 로고
    • A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
    • Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D (2001) A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum Mutat 18:460
    • (2001) Hum Mutat , vol.18 , pp. 460
    • Lerer, I.1    Sagi, M.2    Ben-Neriah, Z.3    Wang, T.4    Levi, H.5    Abeliovich, D.6
  • 28
    • 0034961001 scopus 로고    scopus 로고
    • Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
    • Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK (2001 ) Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat 18:42-51
    • (2001) Hum Mutat , vol.18 , pp. 42-51
    • Lin, D.1    Goldstein, J.A.2    Mhatre, A.N.3    Lustig, L.R.4    Pfister, M.5    Lalwani, A.K.6
  • 32
    • 0036363375 scopus 로고    scopus 로고
    • The Colorado newborn hearing screening project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening
    • Mehl AL, Thomson V (2002) The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 109:E7
    • (2002) Pediatrics , vol.109
    • Mehl, A.L.1    Thomson, V.2
  • 33
    • 1542286154 scopus 로고    scopus 로고
    • High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
    • Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L (2003) High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 22:549-556
    • (2003) Gen Physiol Biophys , vol.22 , pp. 549-556
    • Minarik, G.1    Ferak, V.2    Ferakova, E.3    Ficek, A.4    Polakova, H.5    Kadasi, L.6
  • 35
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31
    • (1991) Ann N Y Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 37
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH (2001) Modifier genes in mice and humans. Nat Rev Genet 2:165-174
    • (2001) Nat Rev Genet , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 38
  • 39
    • 0037449718 scopus 로고    scopus 로고
    • Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26: Implication for key amino acid residues for channel formation and function
    • Oshima A, Doi T, Mitsuoka K, Maeda S, Fujiyoshi Y (2003) Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26: implication for key amino acid residues for channel formation and function. J Biol Chem 278:1807-1816
    • (2003) J Biol Chem , vol.278 , pp. 1807-1816
    • Oshima, A.1    Doi, T.2    Mitsuoka, K.3    Maeda, S.4    Fujiyoshi, Y.5
  • 43
    • 0036524027 scopus 로고    scopus 로고
    • Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
    • Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M (2002) Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110:284-289
    • (2002) Hum Genet , vol.110 , pp. 284-289
    • Shahin, H.1    Walsh, T.2    Sobe, T.3    Lynch, E.4    King, M.C.5    Avraham, K.B.6    Kanaan, M.7
  • 44
    • 4644303598 scopus 로고    scopus 로고
    • Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T
    • Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ (2004) Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. FASEB J 18:860-862
    • (2004) FASEB J , vol.18 , pp. 860-862
    • Skerrett, I.M.1    Di, W.L.2    Kasperek, E.M.3    Kelsell, D.P.4    Nicholson, B.J.5
  • 45
    • 79956124352 scopus 로고    scopus 로고
    • Deafness and hereditary hearing loss overview
    • Smith RJH, Green GE, Van Camp G (2005) Deafness and hereditary hearing loss overview. GeneReviews at GeneTests (http://www.geneclinics.org/servlet/ accessPdb = geneclinics& site = gt&id = 8888891&key = kIS6IuNrH8L7S&gry = & fcn = y&fw = n6V3 &filename = /profiles/deafness-overview/index.html) (accessed October 17, 2005)
    • (2005) GeneReviews at GeneTests
    • Smith, R.J.H.1    Green, G.E.2    Van Camp, G.3
  • 46
    • 0028964217 scopus 로고
    • The gap junction proteins beta 1-connexin (connexin-32) and beta 2-connexin (connexin-26) can form heteromeric hemichannels
    • Stauffer KA (1995) The gap junction proteins beta 1-connexin (connexin-32) and beta 2-connexin (connexin-26) can form heteromeric hemichannels. J Biol Chem 270:6768-6772
    • (1995) J Biol Chem , vol.270 , pp. 6768-6772
    • Stauffer, K.A.1
  • 47
    • 0032840844 scopus 로고    scopus 로고
    • Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
    • Storm K, Willocx S, Flothmann K, Van Camp G (1999) Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 14:263-266
    • (1999) Hum Mutat , vol.14 , pp. 263-266
    • Storm, K.1    Willocx, S.2    Flothmann, K.3    Van Camp, G.4
  • 51
    • 0036654177 scopus 로고    scopus 로고
    • Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing
    • Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O (2002) Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med 4:279-288
    • (2002) Genet Med , vol.4 , pp. 279-288
    • Wu, B.L.1    Lindeman, N.2    Lip, V.3    Adams, A.4    Amato, R.S.5    Cox, G.6    Irons, M.7    Kenna, M.8    Korf, B.9    Raisen, J.10    Platt, O.11


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