메뉴 건너뛰기




Volumn 49, Issue C, 1999, Pages 423-459

Chapter 20: Hereditary Human Diseases Caused by Connexin Mutations

Author keywords

[No Author keywords available]

Indexed keywords


EID: 77956656808     PISSN: 00702161     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0070-2161(08)61024-2     Document Type: Article
Times cited : (4)

References (108)
  • 1
    • 0023413394 scopus 로고
    • Lateral interactions among membrane proteins. Implications for the organization of gap junctions
    • Abney J.R., Braun J., and Owicki J.C. Lateral interactions among membrane proteins. Implications for the organization of gap junctions. Biophys. J. 52 (1987) 441-454
    • (1987) Biophys. J. , vol.52 , pp. 441-454
    • Abney, J.R.1    Braun, J.2    Owicki, J.C.3
  • 2
    • 0031719065 scopus 로고    scopus 로고
    • Genotype/ phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene
    • Ainsworth P.J., Bolton C.F., Murphy B.C., Stuart J.A., and Hahn A.F. Genotype/ phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene. Hum. Genet. 103 (1998) 242-244
    • (1998) Hum. Genet. , vol.103 , pp. 242-244
    • Ainsworth, P.J.1    Bolton, C.F.2    Murphy, B.C.3    Stuart, J.A.4    Hahn, A.F.5
  • 3
    • 0030979840 scopus 로고    scopus 로고
    • Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
    • Anzini P., Neuberg D.H., Schachner M., Nelles E., Willecke K., Zielasek J., Toyka K.V., Suter U., and Martini R. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J. Neurosci. 17 (1997) 4545-4551
    • (1997) J. Neurosci. , vol.17 , pp. 4545-4551
    • Anzini, P.1    Neuberg, D.H.2    Schachner, M.3    Nelles, E.4    Willecke, K.5    Zielasek, J.6    Toyka, K.V.7    Suter, U.8    Martini, R.9
  • 4
    • 0032961829 scopus 로고    scopus 로고
    • Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene
    • Bahr M., Andres F., Timmerman V., Nelis M.E., Van Broeckhoven C., and Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene. J. Neurol. Neurosurg. Psychiatry 66 (1999) 202-206
    • (1999) J. Neurol. Neurosurg. Psychiatry , vol.66 , pp. 202-206
    • Bahr, M.1    Andres, F.2    Timmerman, V.3    Nelis, M.E.4    Van Broeckhoven, C.5    Dichgans, J.6
  • 5
    • 0032563605 scopus 로고    scopus 로고
    • Functional gap junctions in the Schwann cell myelin sheath
    • Balice-Gordon R.J., Bone L.J., and Scherer S.S. Functional gap junctions in the Schwann cell myelin sheath. J. Cell Biol. 142 (1998) 1095-1104
    • (1998) J. Cell Biol. , vol.142 , pp. 1095-1104
    • Balice-Gordon, R.J.1    Bone, L.J.2    Scherer, S.S.3
  • 6
    • 0001420141 scopus 로고
    • Electrical transmission: A functional analysis and comparison to chemical transmission
    • Kandel E. (Ed), American Physiological Society, Washington, DC
    • Bennett M.V.L. Electrical transmission: A functional analysis and comparison to chemical transmission. In: Kandel E. (Ed). "The Handbook of Physiology" (1977), American Physiological Society, Washington, DC 357-416
    • (1977) "The Handbook of Physiology" , pp. 357-416
    • Bennett, M.V.L.1
  • 11
    • 0032579554 scopus 로고    scopus 로고
    • Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules
    • Bevans C.G., Kordel M., Rhee S.K., and Harris A.L. Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules. J. Biol. Chem. 273 (1998) 2808-2816
    • (1998) J. Biol. Chem. , vol.273 , pp. 2808-2816
    • Bevans, C.G.1    Kordel, M.2    Rhee, S.K.3    Harris, A.L.4
  • 14
    • 0029060788 scopus 로고
    • Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
    • Britz-Cunningham S.H., Shah M.M., Zuppan C.W., and Fletcher W.H. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N. Engl. J. Med. 332 (1995) 1323-1329
    • (1995) N. Engl. J. Med. , vol.332 , pp. 1323-1329
    • Britz-Cunningham, S.H.1    Shah, M.M.2    Zuppan, C.W.3    Fletcher, W.H.4
  • 15
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa [letter]
    • Brobby G.W., Muller-Myhsok B., and Horstmann R.D. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa [letter]. N. Engl. J. Med. 338 (1998) 548-550
    • (1998) N. Engl. J. Med. , vol.338 , pp. 548-550
    • Brobby, G.W.1    Muller-Myhsok, B.2    Horstmann, R.D.3
  • 16
    • 0028018967 scopus 로고
    • Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
    • Bruzzone R., White T.W., Scherer S.S., Fischbeck K.H., and Paul D.L. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13 (1994) 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
  • 17
    • 0028135352 scopus 로고
    • Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin
    • Butterweck A., Elfgang C., Willecke K., and Traub O. Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin. Eur. J. Cell Biol. 65 (1994) 152-163
    • (1994) Eur. J. Cell Biol. , vol.65 , pp. 152-163
    • Butterweck, A.1    Elfgang, C.2    Willecke, K.3    Traub, O.4
  • 18
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
    • Carrasquillo M.M., Zlotogora J., Barges S., and Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations. Hum. Mol. Genet. 6 (1997) 2163-2172
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2163-2172
    • Carrasquillo, M.M.1    Zlotogora, J.2    Barges, S.3    Chakravarti, A.4
  • 19
    • 0344171987 scopus 로고    scopus 로고
    • Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations
    • Castro C., Gomez-Hernandez J.M., Silander K., and Barrio L.C. Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. J. Neurosci. 19 (1999) 3752-3760
    • (1999) J. Neurosci. , vol.19 , pp. 3752-3760
    • Castro, C.1    Gomez-Hernandez, J.M.2    Silander, K.3    Barrio, L.C.4
  • 20
    • 0028802160 scopus 로고
    • Transforming growth factor-beta 1 and forskolin modulate gap junctional communication and cellular phenotype of cultured Schwann cells
    • Chandross K.J., Chanson M., Spray D.C., and Kessler J.A. Transforming growth factor-beta 1 and forskolin modulate gap junctional communication and cellular phenotype of cultured Schwann cells. J. Neurosci. 15 (1995) 262-273
    • (1995) J. Neurosci. , vol.15 , pp. 262-273
    • Chandross, K.J.1    Chanson, M.2    Spray, D.C.3    Kessler, J.A.4
  • 22
    • 0029986744 scopus 로고    scopus 로고
    • A role for an inhibitory connexin in testis?
    • Chang M., Werner R., and Dahl G. A role for an inhibitory connexin in testis?. Dev. Biol. 175 (1996) 50-56
    • (1996) Dev. Biol. , vol.175 , pp. 50-56
    • Chang, M.1    Werner, R.2    Dahl, G.3
  • 23
    • 0032101281 scopus 로고    scopus 로고
    • Enhanced secretion of amylase from exocrine pancreas of connexin32-deficient mice
    • Chanson M., Fanjul M., Bosco D., Nelles E., Suter S., Willecke K., and Meda P. Enhanced secretion of amylase from exocrine pancreas of connexin32-deficient mice. J. Cell Biol. 141 (1998) 1267-1275
    • (1998) J. Cell Biol. , vol.141 , pp. 1267-1275
    • Chanson, M.1    Fanjul, M.2    Bosco, D.3    Nelles, E.4    Suter, S.5    Willecke, K.6    Meda, P.7
  • 31
    • 0029966884 scopus 로고    scopus 로고
    • Electrophysiologic studies in the different phenotypes of Charcot-Marie-Tooth disease
    • England J.D., and Garcia C.A. Electrophysiologic studies in the different phenotypes of Charcot-Marie-Tooth disease. Curr. Opin. Neurol. 9 (1996) 338-347
    • (1996) Curr. Opin. Neurol. , vol.9 , pp. 338-347
    • England, J.D.1    Garcia, C.A.2
  • 33
  • 34
    • 0031833887 scopus 로고    scopus 로고
    • Structural changes in lenses of mice lacking the gap junction protein connexin43
    • Gao Y., and Spray D.C. Structural changes in lenses of mice lacking the gap junction protein connexin43. Invest. Ophthalmol. Vis. Sci. 39 (1998) 1198-1209
    • (1998) Invest. Ophthalmol. Vis. Sci. , vol.39 , pp. 1198-1209
    • Gao, Y.1    Spray, D.C.2
  • 35
    • 0029825134 scopus 로고    scopus 로고
    • Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy
    • Gebbia M., Towbin J.A., and Casey B. Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 94 (1996) 1909-1912
    • (1996) Circulation , vol.94 , pp. 1909-1912
    • Gebbia, M.1    Towbin, J.A.2    Casey, B.3
  • 36
    • 0031283282 scopus 로고    scopus 로고
    • Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice
    • Gong X., Li E., Klier G., Huang Q., Wu Y., Lei H., Kumar N.M., Horwitz J., and Gilula N.B. Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell 91 (1997) 833-843
    • (1997) Cell , vol.91 , pp. 833-843
    • Gong, X.1    Li, E.2    Klier, G.3    Huang, Q.4    Wu, Y.5    Lei, H.6    Kumar, N.M.7    Horwitz, J.8    Gilula, N.B.9
  • 39
    • 0027270107 scopus 로고
    • Hereditary motor and sensory neuropathy type II (neuronal type) and X-linked HMSN
    • Hahn A.F. Hereditary motor and sensory neuropathy type II (neuronal type) and X-linked HMSN. Brain Pathol. 3 (1993) 147-155
    • (1993) Brain Pathol. , vol.3 , pp. 147-155
    • Hahn, A.F.1
  • 40
    • 0025085880 scopus 로고
    • X-linked dominant hereditary motor and sensory neuropathy
    • Hahn A.F., Brown W.F., Koopman W.J., and Feasby T.E. X-linked dominant hereditary motor and sensory neuropathy. Brain 113 (1991) 1511-1525
    • (1991) Brain , vol.113 , pp. 1511-1525
    • Hahn, A.F.1    Brown, W.F.2    Koopman, W.J.3    Feasby, T.E.4
  • 41
    • 0031979070 scopus 로고    scopus 로고
    • The genetics of cataract: Our vision becomes clearer
    • Hejtmancik J.F. The genetics of cataract: Our vision becomes clearer. Am. J. Hum. Genet. 62 (1998) 520-525
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 520-525
    • Hejtmancik, J.F.1
  • 42
    • 24544451023 scopus 로고    scopus 로고
    • Effects of two noncoding CMTX mutations on the expression of a reporter construct in transgenic mice
    • Hudder A., and Werner R. Effects of two noncoding CMTX mutations on the expression of a reporter construct in transgenic mice. Mol. Biol. Cell 9 (1998) 326a
    • (1998) Mol. Biol. Cell , vol.9
    • Hudder, A.1    Werner, R.2
  • 43
    • 0028335588 scopus 로고
    • Changes in immunostaining of cochleas with experimentally induced endolymphatic hydrops
    • Ichimiya I., Adams J.C., and Kimura R.S. Changes in immunostaining of cochleas with experimentally induced endolymphatic hydrops. Ann. Otol Rhinol. Laryngol. 103 (1994) 457-468
    • (1994) Ann. Otol Rhinol. Laryngol. , vol.103 , pp. 457-468
    • Ichimiya, I.1    Adams, J.C.2    Kimura, R.S.3
  • 44
    • 0029977888 scopus 로고    scopus 로고
    • Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
    • Ionasescu V., Ionasescu R., and Searby C. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am. J. Med. Genet. 63 (1996) 486-491
    • (1996) Am. J. Med. Genet. , vol.63 , pp. 486-491
    • Ionasescu, V.1    Ionasescu, R.2    Searby, C.3
  • 45
    • 0029788204 scopus 로고    scopus 로고
    • Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
    • Ionasescu V.V., Searby C., Ionasescu R., Neuhaus I.M., and Werner R. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47 (1996) 541-544
    • (1996) Neurology , vol.47 , pp. 541-544
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3    Neuhaus, I.M.4    Werner, R.5
  • 46
    • 0016801207 scopus 로고
    • [Intercellular junctions in the guinea pig stria vascularis as shown by freezeetching (author's translation)]
    • Jahnke K. [Intercellular junctions in the guinea pig stria vascularis as shown by freezeetching (author's translation)]. Anat. Embryol. (Berl.) 147 (1975) 189-201
    • (1975) Anat. Embryol. (Berl.) , vol.147 , pp. 189-201
    • Jahnke, K.1
  • 49
    • 0028843286 scopus 로고
    • Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
    • Kikuchi T., Kimura R.S., Paul D.L., and Adams J.C. Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anat. Embryol. (Berl.) 191 (1995) 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
  • 50
    • 0032567957 scopus 로고    scopus 로고
    • Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice
    • Kirchhoff S., Nelles E., Hagendorff A., Kruger O., Traub O., and Willecke K. Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice. Curr. Biol. 8 (1998) 299-302
    • (1998) Curr. Biol. , vol.8 , pp. 299-302
    • Kirchhoff, S.1    Nelles, E.2    Hagendorff, A.3    Kruger, O.4    Traub, O.5    Willecke, K.6
  • 51
    • 0032604646 scopus 로고    scopus 로고
    • Molecular biology of the interactions between connexins
    • Kumar N.M. Molecular biology of the interactions between connexins. Novartis Found. Symp. 219 (1999) 6-16
    • (1999) Novartis Found. Symp. , vol.219 , pp. 6-16
    • Kumar, N.M.1
  • 52
    • 0030028301 scopus 로고    scopus 로고
    • The gap junction communication channel. [Review]
    • Kumar N.M., and Gilula N.B. The gap junction communication channel. [Review]. Cell 84 (1996) 381-388
    • (1996) Cell , vol.84 , pp. 381-388
    • Kumar, N.M.1    Gilula, N.B.2
  • 54
    • 0345055300 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
    • Lench N., Houseman M., Newton V., Van Camp G., and Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 351 (1998) 415
    • (1998) Lancet , vol.351 , pp. 415
    • Lench, N.1    Houseman, M.2    Newton, V.3    Van Camp, G.4    Mueller, R.5
  • 58
    • 0018828278 scopus 로고
    • The bicellular and reflexive membrane junctions of renomedullary interstitial cells; functional implications of reflexive gap junctions
    • Majack R.A., and Larsen W.J. The bicellular and reflexive membrane junctions of renomedullary interstitial cells; functional implications of reflexive gap junctions. Am. J. Anat. 157 (1980) 181-189
    • (1980) Am. J. Anat. , vol.157 , pp. 181-189
    • Majack, R.A.1    Larsen, W.J.2
  • 61
    • 77956688320 scopus 로고    scopus 로고
    • Midani, H., Kelkar, P., Nance, M., and Parry, G. (1998). Clinical, electrophysiological and morphological features of CMTX. In Charcot-Marie-Tooth Disorders, M. Shy and R. Lovelace, editors, Ann. NY Acad. Sci., in press.
    • Midani, H., Kelkar, P., Nance, M., and Parry, G. (1998). Clinical, electrophysiological and morphological features of CMTX. In Charcot-Marie-Tooth Disorders, M. Shy and R. Lovelace, editors, Ann. NY Acad. Sci., in press.
  • 63
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton N.E. Genetic epidemiology of hearing impairment. Ann. N.Y. Acad. Sci. 630 (1991) 16-31
    • (1991) Ann. N.Y. Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 64
    • 0032948117 scopus 로고    scopus 로고
    • Mutations in the peripheral myelin genes and associates genes in inherited peripheral neuropathies
    • Nelis E., Haites N., and Van Broeckhoven C. Mutations in the peripheral myelin genes and associates genes in inherited peripheral neuropathies. Human Mutat. 13 (1999) 11-28
    • (1999) Human Mutat. , vol.13 , pp. 11-28
    • Nelis, E.1    Haites, N.2    Van Broeckhoven, C.3
  • 67
    • 0027723256 scopus 로고
    • Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
    • Nicholson G., and Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43 (1993) 2558-2564
    • (1993) Neurology , vol.43 , pp. 2558-2564
    • Nicholson, G.1    Nash, J.2
  • 68
    • 0031797442 scopus 로고    scopus 로고
    • Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations
    • Nicholson G.A., Yeung L., and Corbett A. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations. Neurology 51 (1998) 1412-1416
    • (1998) Neurology , vol.51 , pp. 1412-1416
    • Nicholson, G.A.1    Yeung, L.2    Corbett, A.3
  • 69
    • 0030777706 scopus 로고    scopus 로고
    • Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
    • Oh S., Ri Y., Bennett M.V., Trexler E.B., Verselis V.K., and Bargiello T.A. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron 19 (1997) 927-938
    • (1997) Neuron , vol.19 , pp. 927-938
    • Oh, S.1    Ri, Y.2    Bennett, M.V.3    Trexler, E.B.4    Verselis, V.K.5    Bargiello, T.A.6
  • 71
    • 0029977355 scopus 로고    scopus 로고
    • Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
    • Omori Y., Mesnil M., and Yamasaki H. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects. Mol. Biol. Cell 7 (1996) 907-916
    • (1996) Mol. Biol. Cell , vol.7 , pp. 907-916
    • Omori, Y.1    Mesnil, M.2    Yamasaki, H.3
  • 72
    • 0026352039 scopus 로고
    • Connexin 46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes
    • Paul D.L., Ebihara L., Takemoto L.J., Swenson K.I., and Goodenough D.A. Connexin 46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. J. Cell Biol. 115 (1991) 1077-1089
    • (1991) J. Cell Biol. , vol.115 , pp. 1077-1089
    • Paul, D.L.1    Ebihara, L.2    Takemoto, L.J.3    Swenson, K.I.4    Goodenough, D.A.5
  • 73
    • 0004600209 scopus 로고    scopus 로고
    • Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy
    • Penman Splitt M., Tsai M.Y., Burn J., and Goodship J.A. Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart 77 (1997) 369-370
    • (1997) Heart , vol.77 , pp. 369-370
    • Penman Splitt, M.1    Tsai, M.Y.2    Burn, J.3    Goodship, J.A.4
  • 75
    • 0032100768 scopus 로고    scopus 로고
    • Connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: Loss of function and altered gating properties
    • Ressot C., Gomes D., Dautigny A., Pham-Dinh D., and Bruzzone R. Connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: Loss of function and altered gating properties. J. Neurosci. 18 (1998) 4063-4075
    • (1998) J. Neurosci. , vol.18 , pp. 4063-4075
    • Ressot, C.1    Gomes, D.2    Dautigny, A.3    Pham-Dinh, D.4    Bruzzone, R.5
  • 76
    • 0033063884 scopus 로고    scopus 로고
    • The role of a conserved proline residue in mediating conformational changes associated with voltage gating of cx32 gap junctions
    • Ri Y., Ballesteros J.A., Abrams C.K., Oh S., Verselis V.K., Weinstein H., and Bargiello T.A. The role of a conserved proline residue in mediating conformational changes associated with voltage gating of cx32 gap junctions. Biophys. J. 76 (1999) 2887-2898
    • (1999) Biophys. J. , vol.76 , pp. 2887-2898
    • Ri, Y.1    Ballesteros, J.A.2    Abrams, C.K.3    Oh, S.4    Verselis, V.K.5    Weinstein, H.6    Bargiello, T.A.7
  • 79
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmolantar keratoderma
    • Richard G., White T.W., Smith L.E., Bailey R.A., Compton J.G., Paul D.L., and Bale S.J. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmolantar keratoderma. Hum. Genet. 103 (1998) 393-399
    • (1998) Hum. Genet. , vol.103 , 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
  • 80
    • 0026481014 scopus 로고
    • Multiple gap junction genes are utilized during rat skin and hair development
    • Risek B., Klier F.G., and Gilula N.B. Multiple gap junction genes are utilized during rat skin and hair development. Development 116 (1992) 639-651
    • (1992) Development , vol.116 , pp. 639-651
    • Risek, B.1    Klier, F.G.2    Gilula, N.B.3
  • 82
    • 0023254209 scopus 로고
    • Hereditary motor and sensory neuropathy, X-linked: A half a century of follow-up
    • Rozear M.P. Hereditary motor and sensory neuropathy, X-linked: A half a century of follow-up. Neurology 37 (1987) 1460-1465
    • (1987) Neurology , vol.37 , pp. 1460-1465
    • Rozear, M.P.1
  • 83
    • 0032518362 scopus 로고    scopus 로고
    • Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts
    • Sahenk Z., and Chen L. Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts. J. Neurosci. Res. 51 (1998) 174-184
    • (1998) J. Neurosci. Res. , vol.51 , pp. 174-184
    • Sahenk, Z.1    Chen, L.2
  • 84
    • 0031952546 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)
    • Sander S., Nicholson G.A., Ouvrier R.A., McLeod J.G., and Pollard J.D. Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1). Muscle Nerve 21 (1998) 217-225
    • (1998) Muscle Nerve , vol.21 , pp. 217-225
    • Sander, S.1    Nicholson, G.A.2    Ouvrier, R.A.3    McLeod, J.G.4    Pollard, J.D.5
  • 85
    • 0017445033 scopus 로고
    • Membrane morphology of the vertebrate nervous system. A study with freeze-etch technique
    • Sandri C., Van Buren J.M., and Akert K. Membrane morphology of the vertebrate nervous system. A study with freeze-etch technique. Prog. Brain Res. 46 (1977) 1-384
    • (1977) Prog. Brain Res. , vol.46 , pp. 1-384
    • Sandri, C.1    Van Buren, J.M.2    Akert, K.3
  • 87
    • 0032077148 scopus 로고    scopus 로고
    • Connexin50, a gap junction protein of macroglia in the mammalian retina and visual pathway
    • Schutte M., Chen S., Buku A., and Wolosin J.M. Connexin50, a gap junction protein of macroglia in the mammalian retina and visual pathway. Exp. Eye Res. 66 (1998) 605-613
    • (1998) Exp. Eye Res. , vol.66 , pp. 605-613
    • Schutte, M.1    Chen, S.2    Buku, A.3    Wolosin, J.M.4
  • 90
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome lq
    • Shiels A., Mackay D., Ionides A., Berry V., Moore A., and Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome lq. Am. J. Hum. Genet. 62 (1998) 526-532
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 526-532
    • Shiels, A.1    Mackay, D.2    Ionides, A.3    Berry, V.4    Moore, A.5    Bhattacharya, S.6
  • 91
    • 0032567887 scopus 로고    scopus 로고
    • Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block
    • Simon A.M., Goodenough D.A., and Paul D.L. Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block. Curr. Biol. 8 (1998) 295-298
    • (1998) Curr. Biol. , vol.8 , pp. 295-298
    • Simon, A.M.1    Goodenough, D.A.2    Paul, D.L.3
  • 92
    • 0031772251 scopus 로고    scopus 로고
    • One connexin, two diseases [news; comment]
    • Steel K.P. One connexin, two diseases [news; comment]. Nat. Genet. 20 (1998) 319-320
    • (1998) Nat. Genet. , vol.20 , pp. 319-320
    • Steel, K.P.1
  • 93
  • 94
    • 0033596845 scopus 로고    scopus 로고
    • Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
    • Stojkovic T., Latour P., Vandenberghe A., Hurtevent J.F., and Vermersch P. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Am. Acad. Neurol. 52 (1999) 1010-1014
    • (1999) Am. Acad. Neurol. , vol.52 , pp. 1010-1014
    • Stojkovic, T.1    Latour, P.2    Vandenberghe, A.3    Hurtevent, J.F.4    Vermersch, P.5
  • 95
    • 0031738009 scopus 로고    scopus 로고
    • Connexin 32 gap junctions enhance stimulation of glucose output by glucagon and noradrenaline in mouse liver
    • Stumpel F., Ott T., Willecke K., and Jungermann K. Connexin 32 gap junctions enhance stimulation of glucose output by glucagon and noradrenaline in mouse liver. Hepatology 28 (1998) 1616-1620
    • (1998) Hepatology , vol.28 , pp. 1616-1620
    • Stumpel, F.1    Ott, T.2    Willecke, K.3    Jungermann, K.4
  • 96
    • 0027442575 scopus 로고
    • Identification of a proline residue as a transduction element involved in voltage gating of gap junctions
    • Suchyna T.M., Xu L.X., Gao F., Fourtner C.R., and Nicholson B.J. Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature 365 (1993) 847-849
    • (1993) Nature , vol.365 , pp. 847-849
    • Suchyna, T.M.1    Xu, L.X.2    Gao, F.3    Fourtner, C.R.4    Nicholson, B.J.5
  • 97
    • 0031240077 scopus 로고    scopus 로고
    • High incidence of spontaneous and chemically induced liver tumors in mice deficient for connexin32
    • Temme A., Buchmann A., Gabriel H.D., Nelles E., Schwarz M., and Willecke K. High incidence of spontaneous and chemically induced liver tumors in mice deficient for connexin32. Curr. Biol. 7 (1997) 713-716
    • (1997) Curr. Biol. , vol.7 , pp. 713-716
    • Temme, A.1    Buchmann, A.2    Gabriel, H.D.3    Nelles, E.4    Schwarz, M.5    Willecke, K.6
  • 98
    • 0032562189 scopus 로고    scopus 로고
    • Disparate effects of deficient expression of connexin43 on atrial and ventricular conduction: Evidence for chamber-specific molecular determinants of conduction
    • Thomas S.A., Schuessler R.B., Berul C.I., Beardslee M.A., Beyer E.C., Mendelsohn M.E., and Saffitz J.E. Disparate effects of deficient expression of connexin43 on atrial and ventricular conduction: Evidence for chamber-specific molecular determinants of conduction. Circulation 97 (1998) 686-691
    • (1998) Circulation , vol.97 , pp. 686-691
    • Thomas, S.A.1    Schuessler, R.B.2    Berul, C.I.3    Beardslee, M.A.4    Beyer, E.C.5    Mendelsohn, M.E.6    Saffitz, J.E.7
  • 99
    • 0031974001 scopus 로고    scopus 로고
    • Connexin43 gene mutations and heterotaxy [letter]
    • Toth T., Hajdu J., Marton T., Nagy B., and Papp Z. Connexin43 gene mutations and heterotaxy [letter]. Circulation 97 (1998) 117-118
    • (1998) Circulation , vol.97 , pp. 117-118
    • Toth, T.1    Hajdu, J.2    Marton, T.3    Nagy, B.4    Papp, Z.5
  • 101
    • 0028818611 scopus 로고
    • Comparison of ion transport mechanisms between vestibular dark cells and strial marginal cells
    • Wangemann P. Comparison of ion transport mechanisms between vestibular dark cells and strial marginal cells. Hearing Res. 90 (1995) 149-157
    • (1995) Hearing Res. , vol.90 , pp. 149-157
    • Wangemann, P.1
  • 103
    • 0032476578 scopus 로고    scopus 로고
    • Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
    • White T.W., Goodenough D.A., and Paul D.L. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. Cell Biol. 143 (1998) 815-825
    • (1998) Cell Biol. , vol.143 , pp. 815-825
    • White, T.W.1    Goodenough, D.A.2    Paul, D.L.3
  • 104
    • 0032605229 scopus 로고    scopus 로고
    • Biological functions of connexin genes revealed by human genetic defects, dominant negative approaches and targeted deletions in the mouse
    • Willecke K., Kirchhoff S., Plum A., Temme A., Thonnissen E., and Ott T. Biological functions of connexin genes revealed by human genetic defects, dominant negative approaches and targeted deletions in the mouse. Novartis Found. Symp. 219 (1999) 76-88
    • (1999) Novartis Found. Symp. , vol.219 , pp. 76-88
    • Willecke, K.1    Kirchhoff, S.2    Plum, A.3    Temme, A.4    Thonnissen, E.5    Ott, T.6
  • 105
    • 1842369127 scopus 로고    scopus 로고
    • Connexin distribution in the rabbit and rat ciliary body. A case for heterotypic epithelial gap junctions
    • Wolosin J.M., Schutte M., and Chen S. Connexin distribution in the rabbit and rat ciliary body. A case for heterotypic epithelial gap junctions. Invest. Ophthalmol. Vis. Sci. 38 (1997) 341-348
    • (1997) Invest. Ophthalmol. Vis. Sci. , vol.38 , pp. 341-348
    • Wolosin, J.M.1    Schutte, M.2    Chen, S.3
  • 107
    • 0032518241 scopus 로고    scopus 로고
    • Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression
    • Yoshimura T., Satake M., Ohnishi A., Tsutsumi Y., and Fujikura Y. Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. J. Neurosci. Res. 51 (1998) 154-161
    • (1998) J. Neurosci. Res. , vol.51 , pp. 154-161
    • Yoshimura, T.1    Satake, M.2    Ohnishi, A.3    Tsutsumi, Y.4    Fujikura, Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.