메뉴 건너뛰기




Volumn 125, Issue 1, 2009, Pages 53-62

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

Author keywords

[No Author keywords available]

Indexed keywords

COCHLEAR MEMBRANE PROTEIN; CONNEXIN 26; CONNEXIN 31; GAP JUNCTION PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 58849089531     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0602-9     Document Type: Article
Times cited : (91)

References (55)
  • 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
  • 4
    • 0030976035 scopus 로고    scopus 로고
    • Monovalent cation permeation through the connexin40 gap junction channel. Cs, Rb, K, Na, Li, TEA, TMA, TBA, and effects of anions Br, Cl, F, acetate, aspartate, glutamate, and NO3
    • Beblo DA, Veenstra RD (1997) Monovalent cation permeation through the connexin40 gap junction channel. Cs, Rb, K, Na, Li, TEA, TMA, TBA, and effects of anions Br, Cl, F, acetate, aspartate, glutamate, and NO3. J Gen Physiol 109:509-522
    • (1997) J Gen Physiol , vol.109 , pp. 509-522
    • Beblo, D.A.1    Veenstra, R.D.2
  • 5
    • 0025885341 scopus 로고
    • Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulum
    • Bonifacino JS, Cosson P, Shah N, Klausner RD (1991) Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulum. EMBO J 10:2783-2793
    • (1991) EMBO J , vol.10 , pp. 2783-2793
    • Bonifacino, J.S.1    Cosson, P.2    Shah, N.3    Klausner, R.D.4
  • 7
    • 0031975441 scopus 로고    scopus 로고
    • A quantitative analysis of connexin-specific permeability differences of gap junctions expressed in HeLa transfectants and Xenopus oocytes
    • Cao F, Eckert R, Elfgang C, Nitsche JM, Snyder SA, H-ulser DF, Willecke K, Nicholson BJ (1998) A quantitative analysis of connexin-specific permeability differences of gap junctions expressed in HeLa transfectants and Xenopus oocytes. J Cell Sci 111:31-43
    • (1998) J Cell Sci , vol.111 , pp. 31-43
    • Cao, F.1    Eckert, R.2    Elfgang, C.3    Nitsche, J.M.4    Snyder, S.A.5    H-ulser, D.F.6    Willecke, K.7    Nicholson, B.J.8
  • 12
    • 0033563283 scopus 로고    scopus 로고
    • Assembly of heteromeric connexons in guinea-pig liver en route to the Golgi apparatus, plasma membrane and gap junctions
    • Diez JA, Ahmad S, Evans WH (1999) Assembly of heteromeric connexons in guinea-pig liver en route to the Golgi apparatus, plasma membrane and gap junctions. Eur J Biochem 262:142-148
    • (1999) Eur J Biochem , vol.262 , pp. 142-148
    • Diez, J.A.1    Ahmad, S.2    Evans, W.H.3
  • 14
    • 58849096822 scopus 로고    scopus 로고
    • An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes
    • Feng Y, He C, Xiao J, Fang J, Zhao S, Tian X, Mei L, Xia K, Tang X (2002) An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes. Chin J Otorhinolaryngol 37:348-351
    • (2002) Chin J Otorhinolaryngol , vol.37 , pp. 348-351
    • Feng, Y.1    He, C.2    Xiao, J.3    Fang, J.4    Zhao, S.5    Tian, X.6    Mei, L.7    Xia, K.8    Tang, X.9
  • 17
    • 16544381682 scopus 로고    scopus 로고
    • Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele
    • Gualandi E, Ravani A, Berto A et al (2004) Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. Acta Otolaryngol Suppl 552:29-34
    • (2004) Acta Otolaryngol Suppl , vol.552 , pp. 29-34
    • Gualandi, E.1    Ravani, A.2    Berto, A.3
  • 18
  • 22
    • 0029618669 scopus 로고
    • Synthesis and assembly of human β1 gap junctions in BHK cells by DNA transfection with the human β1 cDNA
    • Kumar NM, Friend DS, Gilula NB (1995) Synthesis and assembly of human β1 gap junctions in BHK cells by DNA transfection with the human β1 cDNA. J Cell Sci 108:3725-3734
    • (1995) J Cell Sci , vol.108 , pp. 3725-3734
    • Kumar, N.M.1    Friend, D.S.2    Gilula, N.B.3
  • 26
    • 0036947286 scopus 로고    scopus 로고
    • Connexin 26 gene (GJB2): Prevalence of mutations in Chinese population
    • Liu Y, Ke X, Qi Y, Zhu P (2002a) Connexin 26 gene (GJB2): Prevalence of mutations in Chinese population. J Hum Genet 47:688-690
    • (2002) J Hum Genet , vol.47 , pp. 688-690
    • Liu, Y.1    Ke, X.2    Qi, Y.3    Zhu, P.4
  • 28
    • 58849086406 scopus 로고    scopus 로고
    • The genetic deafness in Chinese population
    • (in English)
    • Liu XZ, Ouyang XM, Yan D (2006) The genetic deafness in Chinese population (in English). J Otol 1:1-10
    • (2006) J Otol , vol.1 , pp. 1-10
    • Liu, X.Z.1    Ouyang, X.M.2    Yan, D.3
  • 29
    • 0027227549 scopus 로고
    • Retention of a cis Golgi protein requires polar residues on one face of a predicted α-helix in the transmembrane domain
    • Machamer CE, Grim MG, Esquela A, Chung SW, Rolls M, Ryan K, Swift AM (1993) Retention of a cis Golgi protein requires polar residues on one face of a predicted α-helix in the transmembrane domain. Mol Biol Cell 4:695-704
    • (1993) Mol Biol Cell , vol.4 , pp. 695-704
    • Machamer, C.E.1    Grim, M.G.2    Esquela, A.3    Chung, S.W.4    Rolls, M.5    Ryan, K.6    Swift, A.M.7
  • 31
    • 0032715472 scopus 로고    scopus 로고
    • Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness
    • Martin PE, Coleman SL, Casalotti SO, Forge A, Evans WH (1999) Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet 8:2369-2376
    • (1999) Hum Mol Genet , vol.8 , pp. 2369-2376
    • Martin, P.E.1    Coleman, S.L.2    Casalotti, S.O.3    Forge, A.4    Evans, W.H.5
  • 32
    • 0242684552 scopus 로고    scopus 로고
    • Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
    • Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A (2003) Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum Mol Genet 12:805-812
    • (2003) Hum Mol Genet , vol.12 , pp. 805-812
    • Marziano, N.K.1    Casalotti, S.O.2    Portelli, A.E.3    Becker, D.L.4    Forge, A.5
  • 33
    • 34447266342 scopus 로고    scopus 로고
    • A novel M163L mutation in GJB2 gene associated with autosomal dominant isolated hearing loss
    • Matos T, Caria H, Galhardo I, Dias O, Andrea M, Correia C, Fialho G (2003) A novel M163L mutation in GJB2 gene associated with autosomal dominant isolated hearing loss. Eur J Hum Genet 11(Suppl 1):211
    • (2003) Eur J Hum Genet , vol.11 , Issue.SUPPL. 1 , pp. 211
    • Matos, T.1    Caria, H.2    Galhardo, I.3    Dias, O.4    Andrea, M.5    Correia, C.6    Fialho, G.7
  • 34
    • 4344715863 scopus 로고    scopus 로고
    • Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss
    • Mese G, Londin E, Mui R, Brink PR, White TW (2004) Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. Hum Genet 115:191-199
    • (2004) Hum Genet , vol.115 , pp. 191-199
    • Mese, G.1    Londin, E.2    Mui, R.3    Brink, P.R.4    White, T.W.5
  • 35
    • 0043133727 scopus 로고    scopus 로고
    • Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment
    • Mhatre AN, Weld E, Lalwani AK (2003) Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. Clin Genet 63:154-159
    • (2003) Clin Genet , vol.63 , pp. 154-159
    • Mhatre, A.N.1    Weld, E.2    Lalwani, A.K.3
  • 36
    • 0027364529 scopus 로고
    • Multisubunit assembly of an integral plasma-membrane channel protein, gap junction connexin43, occurs after exit from the ER
    • Musil LS, Goodenough DA (1993) Multisubunit assembly of an integral plasma-membrane channel protein, gap junction connexin43, occurs after exit from the ER. Cell 74:1065-1077
    • (1993) Cell , vol.74 , pp. 1065-1077
    • Musil, L.S.1    Goodenough, D.A.2
  • 38
    • 0348013123 scopus 로고    scopus 로고
    • Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis
    • Plantard L, Huber M, Macari F, Meda P, Hohl D (2003) Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. Hum Mol Genet 12:3287-3294
    • (2003) Hum Mol Genet , vol.12 , pp. 3287-3294
    • Plantard, L.1    Huber, M.2    Macari, F.3    Meda, P.4    Hohl, D.5
  • 43
    • 0031765429 scopus 로고    scopus 로고
    • Diverse functions of vertebrate gap junctions
    • Simon AM, Goodenough DA (1998) Diverse functions of vertebrate gap junctions. Trends Cell Biol 8:477-483
    • (1998) Trends Cell Biol , vol.8 , pp. 477-483
    • Simon, A.M.1    Goodenough, D.A.2
  • 45
    • 0033636361 scopus 로고    scopus 로고
    • The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels
    • Trexler EB, Bukauskas FF, Kronengold J, Bargiello TA, Verselis VK (2000) The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels. Biophys J 79:3036-3051
    • (2000) Biophys J , vol.79 , pp. 3036-3051
    • Trexler, E.B.1    Bukauskas, F.F.2    Kronengold, J.3    Bargiello, T.A.4    Verselis, V.K.5
  • 46
    • 0043133524 scopus 로고    scopus 로고
    • Frequencies of gap- and tight junction mutations in Turkish families with autosomal-recessive nonsyndromic hearing loss
    • Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B (2003) Frequencies of gap- and tight junction mutations in Turkish families with autosomal-recessive nonsyndromic hearing loss. Clin Genet 64:65-69
    • (2003) Clin Genet , vol.64 , pp. 65-69
    • Uyguner, O.1    Emiroglu, M.2    Uzumcu, A.3    Hafiz, G.4    Ghanbari, A.5    Baserer, N.6    Yuksel-Apak, M.7    Wollnik, B.8
  • 49
    • 0029738724 scopus 로고    scopus 로고
    • Size and selectivity of gap junction channels formed from different connexins
    • Veenstra RD (1996) Size and selectivity of gap junction channels formed from different connexins. J Bioenerg Biomemb 28:327-337
    • (1996) J Bioenerg Biomemb , vol.28 , pp. 327-337
    • Veenstra, R.D.1
  • 50
    • 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
  • 51
    • 0028214204 scopus 로고
    • Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: The second extracellular domain is a determinant of compatibility between connexins
    • White TW, Bruzzone R, Wolfram S, Paul DL, Goodenough DA (1994) Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: The second extracellular domain is a determinant of compatibility between connexins. J Cell Biol 125:879-892
    • (1994) J Cell Biol , vol.125 , pp. 879-892
    • White, T.W.1    Bruzzone, R.2    Wolfram, S.3    Paul, D.L.4    Goodenough, D.A.5
  • 52
    • 0033002783 scopus 로고    scopus 로고
    • Genetic diseases and gene knockouts reveal diverse connexin functions
    • White TW, Paul DL (1999) Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol 61:283-310
    • (1999) Annu Rev Physiol , vol.61 , pp. 283-310
    • White, T.W.1    Paul, D.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.