메뉴 건너뛰기




Volumn 11, Issue , 2009, Pages

Connexin-26 mutations in deafness and skin disease

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

EID: 77951636202     PISSN: 14623994     EISSN: None     Source Type: Journal    
DOI: 10.1017/S1462399409001276     Document Type: Review
Times cited : (102)

References (150)
  • 1
    • 0037382614 scopus 로고    scopus 로고
    • Beyond the gap: Functions of unpaired connexon channels
    • DOI 10.1038/nrm1072
    • Goodenough, D.A. and Paul, D.L. (2003) Beyond the gap: functions of unpaired connexon channels. Nature Reviews Molecular Cell Biology 4, 285-294 (Pubitemid 36383955)
    • (2003) Nature Reviews Molecular Cell Biology , vol.4 , Issue.4 , pp. 285-294
    • Goodenough, D.A.1    Paul, D.L.2
  • 2
    • 0035704411 scopus 로고    scopus 로고
    • Emerging issues of connexin channels: Biophysics fills the gap
    • Harris, A.L. (2001) Emerging issues of connexin channels: biophysics fills the gap. Quarterly Reviews in Biophysics 34, 325-472
    • (2001) Quarterly Reviews in Biophysics , vol.34 , pp. 325-472
    • Harris, A.L.1
  • 3
    • 20444420130 scopus 로고    scopus 로고
    • Gap junction- and hemichannel-independent actions of connexins
    • DOI 10.1016/j.bbamem.2004.10.001, PII S0005273604002470
    • Jiang, J.X. and Gu, S. (2005) Gap junction- and hemichannel-independent actions of connexins. Biochimica et Biophysica Acta 1711, 208-214 (Pubitemid 40799295)
    • (2005) Biochimica et Biophysica Acta - Biomembranes , vol.1711 , Issue.2 SPEC. ISS. , pp. 208-214
    • Jiang, J.X.1    Gu, S.2
  • 5
    • 0042530121 scopus 로고    scopus 로고
    • Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues
    • DOI 10.1080/15419060302063
    • Sohl, G. et al. (2003) Expression profiles of the novel human connexin genes hCx30. 2, hCx40.1, and hCx62 differ from their putative mouse orthologues. Cell Communication and Adhesion 10, 27-36 (Pubitemid 36986820)
    • (2003) Cell Communication and Adhesion , vol.10 , Issue.1 , pp. 27-36
    • Sohl, G.1    Nielsen, P.A.2    Eiberger, J.3    Willecke, K.4
  • 6
    • 0020695145 scopus 로고
    • Intercellular communication in the supporting cells of the organ of Corti
    • Santos-Sacchi, J. and Dallos, P. (1983) Intercellular communication in the supporting cells of the organ of Corti. Hearing Research 9, 317-326
    • (1983) Hearing Research , vol.9 , pp. 317-326
    • Santos-Sacchi, J.1    Dallos, P.2
  • 7
    • 33745073444 scopus 로고    scopus 로고
    • Gap junctions and cochlear homeostasis
    • Zhao, H.B. et al. (2006) Gap junctions and cochlear homeostasis. Journal of Membrane Biology 209, 177-186
    • (2006) Journal of Membrane Biology , vol.209 , pp. 177-186
    • Zhao, H.B.1
  • 8
    • 32544435244 scopus 로고    scopus 로고
    • Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea
    • DOI 10.1523/JNEUROSCI.4278-05.2006
    • Jagger, D.J. and Forge, A. (2006) Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea. Journal of Neuroscience 26, 1260-1268 (Pubitemid 43237058)
    • (2006) Journal of Neuroscience , vol.26 , Issue.4 , pp. 1260-1268
    • Jagger, D.J.1    Forge, A.2
  • 9
    • 0028053443 scopus 로고
    • Gap junction systems in the rat vestibular labyrinth: Immunohistochemical and ultrastructural analysis
    • Kikuchi, T. et al. (1994) Gap junction systems in the rat vestibular labyrinth: immunohistochemical and ultrastructural analysis. Acta Otolaryngologica 114, 520-528 (Pubitemid 24326766)
    • (1994) Acta Oto-Laryngologica , vol.114 , Issue.5 , pp. 520-528
    • Kikuchi, T.1    Adams, J.C.2    Paul, D.L.3    Kimura, R.S.4
  • 10
    • 0028843286 scopus 로고
    • Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
    • Kikuchi, T. et al. (1995) Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anatomy and Embryology 191, 101-118
    • (1995) Anatomy and Embryology , vol.191 , pp. 101-118
    • Kikuchi, T.1
  • 11
    • 0024591145 scopus 로고
    • Stimulus-related potassium changes in the organ of corti of guinea-pig
    • Johnstone, B.M. et al. (1989) Stimulus-related potassium changes in the organ of Corti of guineapig. Journal of Physiology 408, 77-92 (Pubitemid 19040010)
    • (1989) Journal of Physiology , vol.408 , pp. 77-92
    • Johnstone, B.M.1    Patuzzi, R.2    Syka, J.3    Sykova, E.4
  • 12
    • 0025083396 scopus 로고
    • Intracellular recordings from supporting cells in the guinea pig cochlea: DC potentials
    • Oesterle, E.C. and Dallos, P. (1990) Intracellular recordings from supporting cells in the guinea pig cochlea: DC potentials. Journal of Neurophysiology 64, 617-636 (Pubitemid 20264067)
    • (1990) Journal of Neurophysiology , vol.64 , Issue.2 , pp. 617-636
    • Oesterle, E.C.1    Dallos, P.2
  • 14
    • 0036318350 scopus 로고    scopus 로고
    • +) cycling and its regulation in the cochlea and the vestibular labyrinth
    • +) cycling and its regulation in the cochlea and the vestibular labyrinth. Audiology and Neurootology 7, 199-205
    • (2002) Audiology and Neurootology , vol.7 , pp. 199-205
    • Wangemann, P.1
  • 15
    • 33749442171 scopus 로고    scopus 로고
    • + circulation in the mammalian inner ear
    • + circulation in the mammalian inner ear. Physiology 21, 336-345
    • (2006) Physiology , vol.21 , pp. 336-345
    • Hibino, H.1    Kurachi, Y.2
  • 18
    • 12344282751 scopus 로고    scopus 로고
    • 3 and deafness
    • DOI 10.1038/ncb0105-14
    • Bruzzone, R. and Cohen-Salmon, M. (2005) Hearing the messenger: Ins(1, 4, 5)P3 and deafness. Nature Cell Biology 7, 14-16 (Pubitemid 40123377)
    • (2005) Nature Cell Biology , vol.7 , Issue.1 , pp. 14-16
    • Bruzzone, R.1    Cohen-Salmon, M.2
  • 19
  • 20
    • 0017662971 scopus 로고
    • The junctions of normal human epidermis. A freeze fracture study
    • DOI 10.1016/S0022-5320(77)90005-3
    • Caputo, R. and Peluchetti, D. (1977) The junctions of normal human epidermis. A freeze-fracture study. Journal of Ultrastructure Reseach 61, 44-61 (Pubitemid 8204367)
    • (1977) Journal of Ultrastructure Research , vol.61 , Issue.1 , pp. 44-61
    • Caputo, R.1    Peluchetti, D.2
  • 21
    • 0026481014 scopus 로고
    • Multiple gap junction genes are utilized during rat skin and hair development
    • Risek, B. et al. (1992) Multiple gap junction genes are utilized during rat skin and hair development. Development 116, 639-651
    • (1992) Development , vol.116 , pp. 639-651
    • Risek, B.1
  • 24
    • 0019391823 scopus 로고
    • Cell replacement in epidermis (keratopoiesis) via discrete units of proliferation
    • Potten, C.S. (1981) Cell replacement in epidermis (keratopoiesis) via discrete units of proliferation. International Reviews in Cytology 69, 271-318
    • (1981) International Reviews in Cytology , vol.69 , pp. 271-318
    • Potten, C.S.1
  • 25
    • 0034022965 scopus 로고    scopus 로고
    • Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    • Kelsell, D.P. et al. (2000) Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. European Journal of Human Genetics 8, 469-472
    • (2000) European Journal of Human Genetics , vol.8 , pp. 469-472
    • Kelsell, D.P.1
  • 26
    • 0035750741 scopus 로고    scopus 로고
    • Connexin 26 expression and mutation analysis in epidermal disease
    • Di, W.L. et al. (2001) Connexin 26 expression and mutation analysis in epidermal disease. Cell Communication and Adhesion 8, 415-418
    • (2001) Cell Communication and Adhesion , vol.8 , pp. 415-418
    • Di, W.L.1
  • 27
    • 35348891428 scopus 로고    scopus 로고
    • Gap junctions: Basic structure and function
    • DOI 10.1038/sj.jid.5700770, PII 5700770
    • Mese, G. et al. (2007) Gap junctions: basic structure and function. Journal of Investigative Dermatology 127, 2516-2524 (Pubitemid 47585051)
    • (2007) Journal of Investigative Dermatology , vol.127 , Issue.11 , pp. 2516-2524
    • Mese, G.1    Richard, G.2    White, T.W.3
  • 30
    • 0031860398 scopus 로고    scopus 로고
    • Upregulation of connexin 26 between keratinocytes of psoriatic lesions
    • Labarthe, M.P. et al. (1998) Upregulation of connexin 26 between keratinocytes of psoriatic lesions. Journal of Investigative Dermatology 111, 72-76
    • (1998) Journal of Investigative Dermatology , vol.111 , pp. 72-76
    • Labarthe, M.P.1
  • 31
    • 0033024635 scopus 로고    scopus 로고
    • Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium
    • DOI 10.1046/j.1523-1747.1999.00512.x
    • Lucke, T. et al. (1999) Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium. Journal of Investigative Dermatology 112, 354-361 (Pubitemid 29125113)
    • (1999) Journal of Investigative Dermatology , vol.112 , Issue.3 , pp. 354-361
    • Lucke, T.1    Choudhry, R.2    Thom, R.3    Selmer, I.-S.4    Burden, A.D.5    Hodgins, M.B.6
  • 32
    • 0028838703 scopus 로고
    • Wounding alters epidermal connexin expression and gap junction-mediated intercellular communication
    • Goliger, J.A. and Paul, D.L. (1995) Wounding alters epidermal connexin expression and gap junction-mediated intercellular communication. Molecular Biology of the Cell 6, 1491-1501
    • (1995) Molecular Biology of the Cell , vol.6 , pp. 1491-1501
    • Goliger, J.A.1    Paul, D.L.2
  • 33
    • 0029827447 scopus 로고    scopus 로고
    • Perturbation in connexin 43 and connexin 26 gap-junction expression in mouse skin hyperplasia and neoplasia
    • DOI 10.1002/(SICI)1098-2744(199610)17:2<49::AID-MC1>3.0.CO;2-O
    • Sawey, M.J. et al. (1996) Perturbation in connexin 43 and connexin 26 gap-junction expression in mouse skin hyperplasia and neoplasia. Molecular Carcinogenesis 17, 49-61 (Pubitemid 26371007)
    • (1996) Molecular Carcinogenesis , vol.17 , Issue.2 , pp. 49-61
    • Sawey, M.J.1    Goldschmidt, M.H.2    Risek, B.3    Gilula, N.B.4    Lo, C.W.5
  • 34
    • 4344582122 scopus 로고    scopus 로고
    • Clinical application of genetic testing for deafness
    • Smith, R.J. (2004) Clinical application of genetic testing for deafness. American Journal of Medical Genetics A 130A, 8-12
    • (2004) American Journal of Medical Genetics A , vol.130 A , pp. 8-12
    • Smith, R.J.1
  • 35
    • 33947281120 scopus 로고    scopus 로고
    • Connexin 26 mutations in autosomal recessive deafness disorders: A review
    • DOI 10.1080/14992020600582190, PII 773169228, Focus on Genetics of Hearing Loss
    • Apps, S.A. et al. (2007) Connexin 26 mutations in autosomal recessive deafness disorders: a review. International Journal of Audiology 46, 75-81 (Pubitemid 46423630)
    • (2007) International Journal of Audiology , vol.46 , Issue.2 , pp. 75-81
    • Apps, S.A.1    Rankin, W.A.2    Kurmis, A.P.3
  • 36
    • 52949116850 scopus 로고    scopus 로고
    • Genetics of congenital hearing impairment: A clinical approach
    • Tranebaerg, L. (2008) Genetics of congenital hearing impairment: a clinical approach. International Journal of Audiology 47, 535-545
    • (2008) International Journal of Audiology , vol.47 , pp. 535-545
    • Tranebaerg, L.1
  • 37
    • 0034108748 scopus 로고    scopus 로고
    • Functional analysis of human Cx26 mutations associated with deafness
    • White, T.W. (2000) Functional analysis of human Cx26 mutations associated with deafness. Brain Res. Brain Research Reviews 32, 181-183
    • (2000) Brain Res. Brain Research Reviews , vol.32 , pp. 181-183
    • White, T.W.1
  • 41
    • 0036887084 scopus 로고    scopus 로고
    • Selection for deafness?
    • Meyer, C.G. et al. (2002) Selection for deafness? Nature Medicine 8, 1332-1333
    • (2002) Nature Medicine , vol.8 , pp. 1332-1333
    • Meyer, C.G.1
  • 43
    • 60749114435 scopus 로고    scopus 로고
    • Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
    • d'Adamo, P. et al. (2009) Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? European Journal of Human Genetics 17, 284-286
    • (2009) European Journal of Human Genetics , vol.17 , pp. 284-286
    • D'Adamo, P.1
  • 44
    • 42649127764 scopus 로고    scopus 로고
    • Cochlear molecules and hereditary deafness
    • DOI 10.2741/3056
    • Yan, D. and Liu, X.Z. (2008) Cochlear molecules and hereditary deafness. Front Biosci. 13, 4972-4983 (Pubitemid 351599651)
    • (2008) Frontiers in Bioscience , vol.13 , Issue.13 , pp. 4972-4983
    • Yan, D.1    Liu, X.-Z.2
  • 47
    • 0032861495 scopus 로고    scopus 로고
    • Expression of connexin 26 and Na,K-ATPase in the developing mouse cochlear lateral wall: Functional implications
    • DOI 10.1016/S0006-8993(99)01996-4, PII S0006899399019964
    • Xia, A. et al. (1999) Expression of connexin 26 and Na, K-ATPase in the developing mouse cochlear lateral wall: functional implications. Brain Research 846, 106-111 (Pubitemid 29486446)
    • (1999) Brain Research , vol.846 , Issue.1 , pp. 106-111
    • Xia, A.-P.1    Kikuchi, T.2    Hozawa, K.3    Katori, Y.4    Takasaka, T.5
  • 48
    • 33646150467 scopus 로고    scopus 로고
    • Nonsyndromic, autosomal-recessive deafness
    • Petersen, M.B. and Willems, P.J. (2006) Nonsyndromic, autosomal-recessive deafness. Clinical Genetics 69, 371-392
    • (2006) Clinical Genetics , vol.69 , pp. 371-392
    • Petersen, M.B.1    Willems, P.J.2
  • 49
    • 0043281578 scopus 로고    scopus 로고
    • The role of connexins in human disease
    • DOI 10.1097/01.AUD.0000079801.55588.13
    • Chang, E.H. et al. (2003) The role of connexins in human disease. Ear and Hearing 24, 314-323 (Pubitemid 37022143)
    • (2003) Ear and Hearing , vol.24 , Issue.4 , pp. 314-323
    • Chang, E.H.1    Van Camp, G.2    Smith, R.J.H.3
  • 51
    • 0037165262 scopus 로고    scopus 로고
    • A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
    • del Castillo, I. et al. (2002) A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. New England Journal of Medicine 346, 243-249
    • (2002) New England Journal of Medicine , vol.346 , pp. 243-249
    • Del Castillo, I.1
  • 52
    • 65649116240 scopus 로고    scopus 로고
    • GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment
    • Dai, P. et al. (2009) GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment. Journal of Translational Medicine 7, 26
    • (2009) Journal of Translational Medicine , vol.7 , pp. 26
    • Dai, P.1
  • 53
    • 0033850250 scopus 로고    scopus 로고
    • Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
    • Rabionet, R. et al. (2000) Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Human Mutation 16, 190-202
    • (2000) Human Mutation , vol.16 , pp. 190-202
    • Rabionet, R.1
  • 54
    • 0033923765 scopus 로고    scopus 로고
    • Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
    • DOI 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO;2-A
    • Antoniadi, T. et al. (2000) Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Human Mutation 16, 7-12 (Pubitemid 30447961)
    • (2000) Human Mutation , vol.16 , Issue.1 , pp. 7-12
    • Antoniadi, T.1    Gronskov, K.2    Sand, A.3    Pampanos, A.4    Brondum-Nielsen, K.5    Petersen, M.B.6
  • 56
    • 58649105094 scopus 로고    scopus 로고
    • High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
    • Joseph, A.Y. and Rasool, T.J. (2009) High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. International Journal of Pediatric Otorhinolaryngology 73, 437-443
    • (2009) International Journal of Pediatric Otorhinolaryngology , vol.73 , pp. 437-443
    • Joseph, A.Y.1    Rasool, T.J.2
  • 57
    • 67649294812 scopus 로고    scopus 로고
    • High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss
    • Khandelwal, G. et al. (2009) High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss. Journal of Laryngology and Otology 123, 273-277
    • (2009) Journal of Laryngology and Otology , vol.123 , pp. 273-277
    • Khandelwal, G.1
  • 58
    • 38149043590 scopus 로고    scopus 로고
    • Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates
    • Bouwer, S. et al. (2007) Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. Genetic Testing 11, 455-458
    • (2007) Genetic Testing , vol.11 , pp. 455-458
    • Bouwer, S.1
  • 59
    • 21644464285 scopus 로고    scopus 로고
    • Frequencies of two common mutations (c. 35delG and c. 167delT) of the connexin 26 gene in different populations of Hungary
    • Bors, A. et al. (2004) Frequencies of two common mutations (c. 35delG and c. 167delT) of the connexin 26 gene in different populations of Hungary. International Journal of Molecular Medicine 14, 1105-1108
    • (2004) International Journal of Molecular Medicine , vol.14 , pp. 1105-1108
    • Bors, A.1
  • 60
    • 0034973378 scopus 로고    scopus 로고
    • Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
    • DOI 10.1006/mgme.2001.3182
    • Dong, J. et al. (2001) Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Molecular Genetics and Metabolism 73, 160-163 (Pubitemid 32550153)
    • (2001) Molecular Genetics and Metabolism , vol.73 , Issue.2 , pp. 160-163
    • Dong, J.1    Katz, D.R.2    Eng, C.M.3    Kornreich, R.4    Desnick, R.J.5
  • 61
    • 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. et al. (2001) A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Human Mutation 18, 460
    • (2001) Human Mutation , vol.18 , pp. 460
    • Lerer, I.1
  • 67
    • 61349203854 scopus 로고    scopus 로고
    • Correlation between GJB2 mutations and audiological deficits: Personal experience
    • Picciotti, P.M. et al. (2009) Correlation between GJB2 mutations and audiological deficits: personal experience. European Archives of Otorhinolaryngology 266, 489-494
    • (2009) European Archives of Otorhinolaryngology , vol.266 , pp. 489-494
    • Picciotti, P.M.1
  • 68
    • 62849118980 scopus 로고    scopus 로고
    • Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
    • Hilgert, N. et al. (2009) Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. European Journal of Human Genetics 17, 517-524
    • (2009) European Journal of Human Genetics , vol.17 , pp. 517-524
    • Hilgert, N.1
  • 69
    • 56149120893 scopus 로고    scopus 로고
    • Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity
    • Angeli, S.I. (2008) Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. Laryngoscope 118, 2014-2023
    • (2008) Laryngoscope , vol.118 , pp. 2014-2023
    • Angeli, S.I.1
  • 70
    • 33747881938 scopus 로고    scopus 로고
    • Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes
    • DOI 10.1016/j.ijporl.2006.03.015, PII S016558760600108X
    • Hismi, B.O. et al. (2006) Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes. International Journal of Pediatric Otorhinolaryngology 70, 1687-1694 (Pubitemid 44291441)
    • (2006) International Journal of Pediatric Otorhinolaryngology , vol.70 , Issue.10 , pp. 1687-1694
    • Hismi, B.O.1    Yilmaz, S.T.2    Incesulu, A.3    Tekin, M.4
  • 72
    • 0032604739 scopus 로고    scopus 로고
    • Gap junctions and connexin expression in the inner ear
    • Forge, A. et al. (1999) Gap junctions and connexin expression in the inner ear. Novartis Foundation Symposium 219, 134-150
    • (1999) Novartis Foundation Symposium , vol.219 , pp. 134-150
    • Forge, A.1
  • 73
    • 0034601403 scopus 로고    scopus 로고
    • Expression of connexin 31 in the developing mouse cochlea
    • Xia, A.P. et al. (2000) Expression of connexin 31 in the developing mouse cochlea. Neuroreport 11, 2449-2453
    • (2000) Neuroreport , vol.11 , pp. 2449-2453
    • Xia, A.P.1
  • 74
    • 0038351949 scopus 로고    scopus 로고
    • Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice
    • DOI 10.1016/S0006-291X(03)01166-5
    • Ahmad, S. et al. (2003) Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochemistry and Biophysics Research Communications 307, 362-368 (Pubitemid 36818879)
    • (2003) Biochemical and Biophysical Research Communications , vol.307 , Issue.2 , pp. 362-368
    • Ahmad, S.1    Chen, S.2    Sun, J.3    Lin, X.4
  • 76
    • 2442637577 scopus 로고    scopus 로고
    • Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear
    • DOI 10.1007/s00441-004-0861-2
    • Cohen-Salmon, M. et al. (2004) Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear. Cell and Tissue Research 316, 15-22 (Pubitemid 38669874)
    • (2004) Cell and Tissue Research , vol.316 , Issue.1 , pp. 15-22
    • Cohen-Salmon, M.1    Maxeiner, S.2    Kruger, O.3    Theis, M.4    Willecke, K.5    Petit, C.6
  • 77
    • 18844362687 scopus 로고    scopus 로고
    • Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications
    • Zhao, H.B. (2005) Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications. European Journal of Neuroscience 21, 1859-1868
    • (2005) European Journal of Neuroscience , vol.21 , pp. 1859-1868
    • Zhao, H.B.1
  • 78
    • 1642396591 scopus 로고    scopus 로고
    • Connexin disorders of the ear, skin, and lens
    • DOI 10.1016/j.bbamem.2003.10.017, PII S0005273604000318
    • Gerido, D.A. and White, T.W. (2004) Connexin disorders of the ear, skin, and lens. Biochimica et Biophysica Acta 1662, 159-170 (Pubitemid 38366519)
    • (2004) Biochimica et Biophysica Acta - Biomembranes , vol.1662 , Issue.1-2 , pp. 159-170
    • Gerido, D.A.1    White, T.W.2
  • 80
    • 13544249603 scopus 로고    scopus 로고
    • Connexin disorders of the skin
    • Richard, G. (2005) Connexin disorders of the skin. Clinical Dermatology 23, 23-32
    • (2005) Clinical Dermatology , vol.23 , pp. 23-32
    • Richard, G.1
  • 86
    • 0028933496 scopus 로고
    • Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism
    • Peris, K. et al. (1995) Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. British Journal of Dermatology 132, 617-620
    • (1995) British Journal of Dermatology , vol.132 , pp. 617-620
    • Peris, K.1
  • 88
    • 33845683026 scopus 로고    scopus 로고
    • Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin
    • Bondeson, M.L. et al. (2006) Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. Human Mutation 86, 503-508
    • (2006) Human Mutation , vol.86 , pp. 503-508
    • Bondeson, M.L.1
  • 89
    • 33646126660 scopus 로고    scopus 로고
    • Mutation analysis of the GJB2 (connexin 26) gene in Egypt
    • Snoeckx, R.L. et al. (2005) Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Human Mutation 26, 60-61
    • (2005) Human Mutation , vol.26 , pp. 60-61
    • Snoeckx, R.L.1
  • 90
    • 6344225698 scopus 로고    scopus 로고
    • Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
    • DOI 10.1111/j.0022-202X.2004.23470.x
    • Richard, G. et al. (2004) Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. Journal of Investigative Dermatology 123, 856-863 (Pubitemid 39391929)
    • (2004) Journal of Investigative Dermatology , vol.123 , Issue.5 , pp. 856-863
    • Richard, G.1    Brown, N.2    Ishida-Yamamoto, A.3    Krol, A.4
  • 91
    • 0014217629 scopus 로고
    • Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome
    • Bart, R.S. and Pumphrey, R.E. (1967) Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. New England Journal of Medicine 276, 202-207
    • (1967) New England Journal of Medicine , vol.276 , pp. 202-207
    • Bart, R.S.1    Pumphrey, R.E.2
  • 92
    • 0028058126 scopus 로고
    • Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: An additional family with Bart-Pumphrey syndrome
    • Ramer, J.C. et al. (1994) Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. Journal of Medical Genetics 31, 68-71 (Pubitemid 24037952)
    • (1994) Journal of Medical Genetics , vol.31 , Issue.1 , pp. 68-71
    • Ramer, J.C.1    Vasily, D.B.2    Ladda, R.L.3
  • 94
    • 0034099846 scopus 로고    scopus 로고
    • A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
    • Heathcote, K. et al. (2000) A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). Journal of Medical Genetics 37, 50-51 (Pubitemid 30245875)
    • (2000) Journal of Medical Genetics , vol.37 , Issue.1 , pp. 50-51
    • Heathcote, K.1    Syrris, P.2    Carter, N.D.3    Patton, M.A.4
  • 95
    • 33644874120 scopus 로고    scopus 로고
    • Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation
    • Leonard, N.J. et al. (2005) Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. Journal of Medical Genetics 42, e2
    • (2005) Journal of Medical Genetics , vol.42
    • Leonard, N.J.1
  • 96
    • 0026584664 scopus 로고
    • Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations
    • Sharland, M. et al. (1992) Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. Journal of Medical Genetics 29, 50-52
    • (1992) Journal of Medical Genetics , vol.29 , pp. 50-52
    • Sharland, M.1
  • 97
    • 0023359292 scopus 로고
    • Palmoplantar keratoderma, deafness and atopy
    • Verbov, J. (1987) Palmoplantar keratoderma, deafness and atopy. British Journal of Dermatology 116, 881-882
    • (1987) British Journal of Dermatology , vol.116 , pp. 881-882
    • Verbov, J.1
  • 99
    • 63749102956 scopus 로고    scopus 로고
    • New evidence for the correlation of the p. G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
    • Iossa, S. et al. (2009) New evidence for the correlation of the p. G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. American Journal of Medical Genetics A 149A, 685-688
    • (2009) American Journal of Medical Genetics A , vol.149 A , pp. 685-688
    • Iossa, S.1
  • 100
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
    • DOI 10.1007/s004390050839
    • Richard, G. et al. (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Human Genetics 103, 393-399 (Pubitemid 28542946)
    • (1998) Human Genetics , vol.103 , Issue.4 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3    Bailey, R.A.4    Compton, J.G.5    Paul, D.L.6    Bale, S.J.7
  • 103
    • 53149107103 scopus 로고    scopus 로고
    • A novel missense mutation in the second extracellular domain of GJB2, p. Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness
    • Zwart-Storm, E.A. et al. (2008) A novel missense mutation in the second extracellular domain of GJB2, p. Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. American Journal of Pathology 173, 1113-1119
    • (2008) American Journal of Pathology , vol.173 , pp. 1113-1119
    • Zwart-Storm, E.A.1
  • 104
    • 84943429907 scopus 로고
    • Keratitis, ichthyosis and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas
    • DOI 10.1001/archderm.123.6.777
    • Grob, J.J. et al. (1987) Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. Archives of Dermatology 123, 777-782 (Pubitemid 17076172)
    • (1987) Archives of Dermatology , vol.123 , Issue.6 , pp. 777-782
    • Grob, J.J.1    Breton, A.2    Bonafe, J.L.3
  • 106
    • 0036164879 scopus 로고    scopus 로고
    • Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome
    • Szymko-Bennett, Y.M. et al. (2002) Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome. Laryngoscope 112, 272-280 (Pubitemid 34135872)
    • (2002) Laryngoscope , vol.112 , Issue.2 , pp. 272-280
    • Szymko-Bennett, Y.M.1    Russell, L.J.2    Bale, S.J.3    Griffith, A.J.4
  • 109
    • 0036230429 scopus 로고    scopus 로고
    • A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    • van Steensel, M.A. et al. (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. Journal of Investigative Dermatology 118, 724-727
    • (2002) Journal of Investigative Dermatology , vol.118 , pp. 724-727
    • Van Steensel, M.A.1
  • 110
    • 0036279721 scopus 로고    scopus 로고
    • Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome
    • DOI 10.1046/j.1525-1470.2002.00075.x
    • Gilliam, A. and Williams, M.L. (2002) Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. Pediatric Dermatology 19, 232-236 (Pubitemid 34625784)
    • (2002) Pediatric Dermatology , vol.19 , Issue.3 , pp. 232-236
    • Gilliam, A.1    Williams, M.L.2
  • 113
    • 0036063922 scopus 로고    scopus 로고
    • HID and KID syndromes are associated with the same connexin 26 mutation
    • van Geel, M. et al. (2002) HID and KID syndromes are associated with the same connexin 26 mutation. British Journal of Dermatology 146, 938-942
    • (2002) British Journal of Dermatology , vol.146 , pp. 938-942
    • Van Geel, M.1
  • 114
    • 3242723835 scopus 로고    scopus 로고
    • A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation
    • van Steensel, M.A. et al. (2004) A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. Journal of Investigative Dermatology 123, 291-293
    • (2004) Journal of Investigative Dermatology , vol.123 , pp. 291-293
    • Van Steensel, M.A.1
  • 116
    • 4444341882 scopus 로고    scopus 로고
    • A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
    • DOI 10.1016/j.jaad.2003.12.042, PII S0190962204005481
    • Montgomery, J.R. et al. (2004) A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. Journal of the American Academy of Dermatology 51, 377-382 (Pubitemid 39178664)
    • (2004) Journal of the American Academy of Dermatology , vol.51 , Issue.3 , pp. 377-382
    • Montgomery, J.R.1    White, T.W.2    Martin, B.L.3    Turner, M.L.4    Holland, S.M.5
  • 117
    • 33845505914 scopus 로고    scopus 로고
    • A novel mechanism for connexin 26 mutation linked deafness: Cell death caused by leaky gap junction hemichannels
    • DOI 10.1097/01.mlg.0000241944.77192.d2, PII 0000553720061200000018
    • Stong, B.C. et al. (2006) A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope 116, 2205-2210 (Pubitemid 44912318)
    • (2006) Laryngoscope , vol.116 , Issue.12 , pp. 2205-2210
    • Stong, B.C.1    Chang, Q.2    Ahmad, S.3    Lin, X.4
  • 118
    • 33746588200 scopus 로고    scopus 로고
    • A novel N14Y mutation in connexin26 in keratitis-ichthyosis-deafness syndrome: Analyses of altered gap junctional communication and molecular structure of N terminus of mutated connexin26
    • DOI 10.2353/ajpath.2006.051242
    • Arita, K. et al. (2006) A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. American Journal of Pathology 169, 416-423 (Pubitemid 44156304)
    • (2006) American Journal of Pathology , vol.169 , Issue.2 , pp. 416-423
    • Arita, K.1    Akiyama, M.2    Aizawa, T.3    Umetsu, Y.4    Segawa, I.5    Goto, M.6    Sawamura, D.7    Demura, M.8    Kawano, K.9    Shimizu, H.10
  • 120
    • 0017519680 scopus 로고
    • Congenital bullous ichthyosiform erythroderma (case 20)
    • Schnyder, U.W. and Gloor, M. (1977) [Congenital bullous ichthyosiform erythroderma (case 20)]. Zeitschrift für Hautkrankheiten 52, 809-811
    • (1977) Zeitschrift für Hautkrankheiten , vol.52 , pp. 809-811
    • Schnyder, U.W.1    Gloor, M.2
  • 121
    • 0017669285 scopus 로고
    • Ichthyosis hystrix gravior typus Rheydt: An otologic-dermatologic syndrome
    • Gulzow, J. and Anton-Lamprecht, I. (1977) [Ichthyosis hystrix gravior typus Rheydt: an otologic-dermatologic syndrome]. Laryngology Rhinology and Otology 56, 949-955
    • (1977) Laryngology Rhinology and Otology , vol.56 , pp. 949-955
    • Gulzow, J.1    Anton-Lamprecht, I.2
  • 123
    • 0031440333 scopus 로고    scopus 로고
    • Autosomal dominant inheritance of HID syndrome (hystrix-like ichthyosis with deafness)
    • Konig, A. et al. (1997) Autosomal dominant inheritance of HID syndrome (hystrix-like ichthyosis with deafness). European Journal of Dermatology 7, 554-555 (Pubitemid 28034314)
    • (1997) European Journal of Dermatology , vol.7 , Issue.8 , pp. 554-555
    • Konig, A.1    Kuster, W.2    Berger, R.3    Happle, R.4
  • 124
    • 59649129489 scopus 로고    scopus 로고
    • Personal reflections on the multichannel cochlear implant and a view of the future
    • Clark, G.M. (2008) Personal reflections on the multichannel cochlear implant and a view of the future. Journal of Rehabilitation Research and Development 45, 651-693
    • (2008) Journal of Rehabilitation Research and Development , vol.45 , pp. 651-693
    • Clark, G.M.1
  • 125
    • 50049084420 scopus 로고    scopus 로고
    • Deafness in the developing world: The place of cochlear implantation
    • Tarabichi, M.B. et al. (2008) Deafness in the developing world: the place of cochlear implantation. Journal of Laryngology and Otology 122, 877-880
    • (2008) Journal of Laryngology and Otology , vol.122 , pp. 877-880
    • Tarabichi, M.B.1
  • 126
    • 69549086987 scopus 로고    scopus 로고
    • Cochlear implantation in children with keratitisichthyosis-deafness (KID) syndrome: Outcomes in three cases
    • Barker, E.J. and Briggs, R.J. (2008) Cochlear implantation in children with keratitisichthyosis-deafness (KID) syndrome: outcomes in three cases. Cochlear Implants International 10, 166-173
    • (2008) Cochlear Implants International , vol.10 , pp. 166-173
    • Barker, E.J.1    Briggs, R.J.2
  • 127
    • 0030918529 scopus 로고    scopus 로고
    • Cochlear implant extrusion in a child with keratitis, ichthyosis and deafness syndrome
    • Hampton, S.M. et al. (1997) Cochlear implant extrusion in a child with keratitis, ichthyosis and deafness syndrome. Journal of Laryngology and Otology 111, 465-467 (Pubitemid 27254779)
    • (1997) Journal of Laryngology and Otology , vol.111 , Issue.5 , pp. 465-467
    • Hampton, S.M.1
  • 128
    • 41149163569 scopus 로고    scopus 로고
    • Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation
    • Cushing, S.L. et al. (2008) Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. International Journal of Pediatric Otorhinolaryngology 72, 693-698
    • (2008) International Journal of Pediatric Otorhinolaryngology , vol.72 , pp. 693-698
    • Cushing, S.L.1
  • 131
    • 21244488153 scopus 로고    scopus 로고
    • In vitro and in vivo suppression of GJB2 expression by RNA interference
    • DOI 10.1093/hmg/ddi172
    • Maeda, Y. et al. (2005) In vitro and in vivo suppression of GJB2 expression by RNA interference. Human Molecular Genetics 14, 1641-1650 (Pubitemid 40895516)
    • (2005) Human Molecular Genetics , vol.14 , Issue.12 , pp. 1641-1650
    • Maeda, Y.1    Fukushima, K.2    Nishizaki, K.3    Smith, R.J.H.4
  • 132
    • 62849103884 scopus 로고    scopus 로고
    • Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
    • Mani, R.S. et al. (2009) Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. European Journal of Human Genetics 17, 502-509
    • (2009) European Journal of Human Genetics , vol.17 , pp. 502-509
    • Mani, R.S.1
  • 133
    • 57049158204 scopus 로고    scopus 로고
    • Connexin26 deafness associated mutations show altered permeability to large cationic molecules
    • Mese, G. et al. (2008) Connexin26 deafness associated mutations show altered permeability to large cationic molecules. American Journal of Physiology Cell Physiology 295, C966-C974
    • (2008) American Journal of Physiology Cell Physiology , vol.295
    • Mese, G.1
  • 136
    • 0035757730 scopus 로고    scopus 로고
    • Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness
    • Bruzzone, R. et al. (2001) Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. Cell Communication and Adhesion 8, 425-431
    • (2001) Cell Communication and Adhesion , vol.8 , pp. 425-431
    • Bruzzone, R.1
  • 137
    • 0035226626 scopus 로고    scopus 로고
    • Connexin disorders of the skin
    • Richard, G. (2001) Connexin disorders of the skin. Advances in Dermatology 17, 243-277
    • (2001) Advances in Dermatology , vol.17 , pp. 243-277
    • Richard, G.1
  • 138
    • 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
    • DOI 10.1093/hmg/ddg076
    • Marziano, N.K. et al. (2003) Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Human Molecular Genetics 12, 805-812 (Pubitemid 36504023)
    • (2003) Human Molecular Genetics , vol.12 , Issue.8 , pp. 805-812
    • Marziano, N.K.1    Casalotti, S.O.2    Portelli, A.E.3    Becker, D.L.4    Forge, A.5
  • 139
    • 2442502595 scopus 로고    scopus 로고
    • Functional Domain Mapping and Selective Trans-dominant Effects Exhibited by Cx26 Disease-causing Mutations
    • DOI 10.1074/jbc.M314117200
    • Thomas, T. et al. (2004) Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations. Journal of Biological Chemistry 279, 19157-19168 (Pubitemid 38623347)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.18 , pp. 19157-19168
    • Thomas, T.1    Telford, D.2    Laird, D.W.3
  • 141
    • 44649131935 scopus 로고    scopus 로고
    • A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
    • Matos, T.D. et al. (2008) A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Hearing Research 240, 87-92
    • (2008) Hearing Research , vol.240 , pp. 87-92
    • Matos, T.D.1
  • 142
    • 0242380301 scopus 로고    scopus 로고
    • New roles for astrocytes: Gap junction hemichannels have something to communicate
    • DOI 10.1016/j.tins.2003.09.008
    • Bennett, M.V. et al. (2003) New roles for astrocytes: gap junction hemichannels have something to communicate. Trends in Neuroscience 26, 610-617 (Pubitemid 37338369)
    • (2003) Trends in Neurosciences , vol.26 , Issue.11 , pp. 610-617
    • Bennett, M.V.L.1    Contreras, J.E.2    Bukauskas, F.F.3    Saez, J.C.4
  • 143
    • 63149198803 scopus 로고    scopus 로고
    • Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes
    • Lee, J.R. et al. (2009) Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. Journal of Investigative Dermatology 129, 870-878
    • (2009) Journal of Investigative Dermatology , vol.129 , pp. 870-878
    • Lee, J.R.1
  • 145
    • 67349148585 scopus 로고    scopus 로고
    • Targeted connexin26 ablation arrests postnatal development of the organ of Corti
    • Wang, Y. et al. (2009) Targeted connexin26 ablation arrests postnatal development of the organ of Corti. Biochemical and Biophysical Research Communications 385, 33-37
    • (2009) Biochemical and Biophysical Research Communications , vol.385 , pp. 33-37
    • Wang, Y.1
  • 147
    • 0346496110 scopus 로고    scopus 로고
    • Transport and function of Cx26 mutants involved in skin and deafness disorders
    • Thomas, T. et al. (2003) Transport and function of cx26 mutants involved in skin and deafness disorders. Cell Communication and Adhesion 10, 353-358 (Pubitemid 38081397)
    • (2003) Cell Communication and Adhesion , vol.10 , Issue.4-6 , pp. 353-358
    • Thomas, T.1    Aasen, T.2    Hodgins, M.3    Laird, D.W.4
  • 148
    • 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
    • DOI 10.1002/cne.10916
    • Forge, A. et al. (2003) Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. Journal of Comparative Neurology 467, 207-231 (Pubitemid 37363146)
    • (2003) Journal of Comparative Neurology , vol.467 , Issue.2 , pp. 207-231
    • Forge, A.1    Becker, D.2    Casalotti, S.3    Edwards, J.4    Marziano, N.5    Nevill, G.6
  • 149
    • 24644458117 scopus 로고    scopus 로고
    • Mechanism of the defect in gap-junctional communication by expression of a connexin 26 mutant associated with dominant deafness
    • DOI 10.1096/fj04-3491fje
    • Chen, Y. et al. (2005) Mechanism of the defect in gap-junctional communication by expression of a connexin 26 mutant associated with dominant deafness. FASEB Journal 19, 1516-1518 (Pubitemid 41279016)
    • (2005) FASEB Journal , vol.19 , Issue.11 , pp. 1516-1518
    • Chen, Y.1    Deng, Y.2    Bao, X.3    Reuss, L.4    Altenberg, G.A.5
  • 150
    • 63849141447 scopus 로고    scopus 로고
    • Structure of the connexin 26 gap junction channel at 3.5 A resolution
    • Maeda, S. et al. (2009) Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 458, 597-602
    • (2009) Nature , vol.458 , pp. 597-602
    • Maeda, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.