-
1
-
-
0030028301
-
The gap junction communication channel
-
Kumar N.M., Gilula N.B. The gap junction communication channel. Cell. 83:1996;381-388.
-
(1996)
Cell
, vol.83
, pp. 381-388
-
-
Kumar, N.M.1
Gilula, N.B.2
-
2
-
-
0025963272
-
Gap junctions: New tool, new answers, new questions
-
Bennett M.V.L., Barrio L.C., Bargiello T.A., Spray D.C., Hertzberg E., Saez J.C. Gap junctions: new tool, new answers, new questions. Neuron. 6:1991;305-320.
-
(1991)
Neuron
, vol.6
, pp. 305-320
-
-
Bennett, M.V.L.1
Barrio, L.C.2
Bargiello, T.A.3
Spray, D.C.4
Hertzberg, E.5
Saez, J.C.6
-
3
-
-
0032533831
-
Reversion of neoplastic phenotype of human glioblastoma cells by connexin 43
-
Huang R.P., Fan Y., Hossain M.Z., Peng A., Zeng Z.L., Boynton A.L. Reversion of neoplastic phenotype of human glioblastoma cells by connexin 43. Cancer Res. 58:1998;5089-5096.
-
(1998)
Cancer Res.
, vol.58
, pp. 5089-5096
-
-
Huang, R.P.1
Fan, Y.2
Hossain, M.Z.3
Peng, A.4
Zeng, Z.L.5
Boynton, A.L.6
-
4
-
-
0030809793
-
Dominant-negative abrogation of connexin-mediated cell growth control by mutant connexin genes
-
Duflot-Dancer A., Mesnil M., Yamasaki H. Dominant-negative abrogation of connexin-mediated cell growth control by mutant connexin genes. Oncogene. 15:1997;2151-2158.
-
(1997)
Oncogene
, vol.15
, pp. 2151-2158
-
-
Duflot-Dancer, A.1
Mesnil, M.2
Yamasaki, H.3
-
5
-
-
0029015909
-
Connexin43 reverses the phenotype of transformed cell and alters their expression of cyclin/cyclin-dependent kinases
-
Chen Sh.-Ch., Pelletier D.B., Ao P., Boynton A.L. Connexin43 reverses the phenotype of transformed cell and alters their expression of cyclin/cyclin-dependent kinases. Cell Growth Differ. 6:1995;681-690.
-
(1995)
Cell Growth Differ.
, vol.6
, pp. 681-690
-
-
Chen, Sh.-Ch.1
Pelletier, D.B.2
Ao, P.3
Boynton, A.L.4
-
6
-
-
0030800644
-
Restoration of cell-to-cell communication in thyroid cell lines by transfection with and stable expression of the Connexin-32 gene. [Impact on cell proliferation and tissue-specific gene expression]
-
Statuto M., Audebet C., Tonoli H., Selmi-Rubi S., Rousset B., Munari-Silem Y. Restoration of cell-to-cell communication in thyroid cell lines by transfection with and stable expression of the Connexin-32 gene. [Impact on cell proliferation and tissue-specific gene expression]. J. Biol. Chem. 272:1997;24710-24716.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 24710-24716
-
-
Statuto, M.1
Audebet, C.2
Tonoli, H.3
Selmi-Rubi, S.4
Rousset, B.5
Munari-Silem, Y.6
-
7
-
-
0031857526
-
Gap junctional communication modulates gene expression in osteoblastic cells
-
Lecanda F., Towler D.A., Ziambaras K., Cheng S.-L., Koval M., Stainberg T.H., Civitelli Gap junctional communication modulates gene expression in osteoblastic cells. Mol. Biol. Cell. 9:1998;2249-2258.
-
(1998)
Mol. Biol. Cell
, vol.9
, pp. 2249-2258
-
-
Lecanda, F.1
Towler, D.A.2
Ziambaras, K.3
Cheng, S.-L.4
Koval, M.5
Stainberg, T.H.6
Civitelli7
-
8
-
-
0029618669
-
Synthesis and assembly of human b1 gap junctions in BHK cells by DNA transfection with the human b1 cDNA
-
Kumar N.M., Friend D.S., Gilula N.B. Synthesis and assembly of human b1 gap junctions in BHK cells by DNA transfection with the human b1 cDNA. J. Cell Sci. 108:1995;3725-3734.
-
(1995)
J. Cell Sci.
, vol.108
, pp. 3725-3734
-
-
Kumar, N.M.1
Friend, D.S.2
Gilula, N.B.3
-
9
-
-
0029739466
-
Localization and function of the connexin 43 gap-junction protein in normal and various oncogene-expressing rat liver epithelial cells
-
de Feijter A.W., Matesic D.F., Ruch R.J., Guan X., Chang C.-C., Trosko J.E. Localization and function of the connexin 43 gap-junction protein in normal and various oncogene-expressing rat liver epithelial cells. Mol. Carcinog. 16:1996;203-212.
-
(1996)
Mol. Carcinog.
, vol.16
, pp. 203-212
-
-
De Feijter, A.W.1
Matesic, D.F.2
Ruch, R.J.3
Guan, X.4
Chang, C.-C.5
Trosko, J.E.6
-
10
-
-
0032559798
-
Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
-
Gabriel H.-D., Jung D., Butzler C., Temme A., Traub O., Winterhager E., Willecke K. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J. Cell Biol. 140:1998;1453-1460.
-
(1998)
J. Cell Biol.
, vol.140
, pp. 1453-1460
-
-
Gabriel, H.-D.1
Jung, D.2
Butzler, C.3
Temme, A.4
Traub, O.5
Winterhager, E.6
Willecke, K.7
-
11
-
-
0028907907
-
Cardiac malformation in neonatal mice lacking connexin43
-
Reaume A.G., de Sousa P.A., Kulkarni S., Langille B.L., Zhu D., Davies T.C., Juneja S.C., Kidder G.M., Rossant J. Cardiac malformation in neonatal mice lacking connexin43. Science. 267:1995;1831-1834.
-
(1995)
Science
, vol.267
, pp. 1831-1834
-
-
Reaume, A.G.1
De Sousa, P.A.2
Kulkarni, S.3
Langille, B.L.4
Zhu, D.5
Davies, T.C.6
Juneja, S.C.7
Kidder, G.M.8
Rossant, J.9
-
12
-
-
0032916234
-
Defects in the germ line and gonads of mice lacking connexin43
-
Juneja S.C., Barr K.J., Eders G.C., Kidder G.M. Defects in the germ line and gonads of mice lacking connexin43. Biol. Reprod. 60:1999;1263-1270.
-
(1999)
Biol. Reprod.
, vol.60
, pp. 1263-1270
-
-
Juneja, S.C.1
Barr, K.J.2
Eders, G.C.3
Kidder, G.M.4
-
13
-
-
0343687249
-
Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice
-
Nelles E., Budzler C., Jung D., Temme A., Gabriel H.D., Dahl U., Traub O., Stumpel F., Jungermann K., Zielasek J., Toyka K.V., Dermietzel R., Willecke K. Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc. Natl. Acad. Sci., U.S.A. 93:1996;9565-9570.
-
(1996)
Proc. Natl. Acad. Sci., U.S.A.
, vol.93
, pp. 9565-9570
-
-
Nelles, E.1
Budzler, C.2
Jung, D.3
Temme, A.4
Gabriel, H.D.5
Dahl, U.6
Traub, O.7
Stumpel, F.8
Jungermann, K.9
Zielasek, J.10
Toyka, K.V.11
Dermietzel, R.12
Willecke, K.13
-
14
-
-
0031240077
-
High incidence of spontaneous and chemically induced liver tumors in mice deficient for connexin32
-
Temme, Buchmann A., Gabriel H.D., Nelles E., Schwarz M., 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
-
-
Temme1
Buchmann, A.2
Gabriel, H.D.3
Nelles, E.4
Schwarz, M.5
Willecke, K.6
-
15
-
-
0032171653
-
Connexin32-null mice develop demyelinating peripheral neuropathy
-
Scherer S.S., Xu Y.T., Nelles E., Fischbeck K., Willecke K., Bone L.J. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia. 24:1998;8-20.
-
(1998)
Glia
, vol.24
, pp. 8-20
-
-
Scherer, S.S.1
Xu, Y.T.2
Nelles, E.3
Fischbeck, K.4
Willecke, K.5
Bone, L.J.6
-
17
-
-
0031283282
-
3 connexin gene leads to proteolysis and cataractogenesis in mice
-
3 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
-
18
-
-
0032476578
-
Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
-
White T.W., Goodenough D.A., Paul D.L. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. J. Cell Biol. 143:1998;815-825.
-
(1998)
J. Cell Biol.
, vol.143
, pp. 815-825
-
-
White, T.W.1
Goodenough, D.A.2
Paul, D.L.3
-
19
-
-
0032567887
-
Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block
-
Simon A.M., Goodenough D.A., 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
-
20
-
-
0032567957
-
Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice
-
Kirchhoff S., Nelles E., Hagendorff A., Kruger O., Traub O., 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
-
21
-
-
0026566346
-
A domain substitution procedure and its use to analyse voltage dependence of homotypic gap junctions formed by connexins 26 and 32
-
Rubin J.B., Verselis V.K., Bennet M.V., Bargiello T.A. A domain substitution procedure and its use to analyse voltage dependence of homotypic gap junctions formed by connexins 26 and 32. Proc. Natl. Acad. Sci., U.S.A. 89:1992;3820-3824.
-
(1992)
Proc. Natl. Acad. Sci., U.S.A.
, vol.89
, pp. 3820-3824
-
-
Rubin, J.B.1
Verselis, V.K.2
Bennet, M.V.3
Bargiello, T.A.4
-
22
-
-
0028299152
-
Opposite voltage gating polarities of two closely related connexins
-
Verselis V.K., Ginter C.S., Bargiello T.A. Opposite voltage gating polarities of two closely related connexins. Nature. 368:1994;348-351.
-
(1994)
Nature
, vol.368
, pp. 348-351
-
-
Verselis, V.K.1
Ginter, C.S.2
Bargiello, T.A.3
-
23
-
-
0030773116
-
Connexin32 of gap junctions contain two cytoplasmic calmodulin-binding domains
-
Torok K., Strauffer K., Evans W.H. Connexin32 of gap junctions contain two cytoplasmic calmodulin-binding domains. Biochem. J. 326:1997;479-483.
-
(1997)
Biochem. J.
, vol.326
, pp. 479-483
-
-
Torok, K.1
Strauffer, K.2
Evans, W.H.3
-
25
-
-
0032498942
-
The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions
-
Foote C.I., Zhou L., Zhu X., Nicholson B.J. The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions. J. Cell Biol. 140:1998;1187-1197.
-
(1998)
J. Cell Biol.
, vol.140
, pp. 1187-1197
-
-
Foote, C.I.1
Zhou, L.2
Zhu, X.3
Nicholson, B.J.4
-
26
-
-
0024095587
-
-
Milks L.C., Kumar N.M., Houghten R., Unwin N., Gilula N.B. EMBO J. 7:1988;2967-2975.
-
(1988)
EMBO J.
, vol.7
, pp. 2967-2975
-
-
Milks, L.C.1
Kumar, N.M.2
Houghten, R.3
Unwin, N.4
Gilula, N.B.5
-
27
-
-
0030897850
-
Identification of a pore lining segment in gap junction hemichannels
-
Zhou X.W., Pfahnl A., Werner R., Hudder A., Llanes A., Lubeke A., Dahl G. Identification of a pore lining segment in gap junction hemichannels. Biophys. J. 72:1997;1946-1953.
-
(1997)
Biophys. J.
, vol.72
, pp. 1946-1953
-
-
Zhou, X.W.1
Pfahnl, A.2
Werner, R.3
Hudder, A.4
Llanes, A.5
Lubeke, A.6
Dahl, G.7
-
28
-
-
0032913131
-
Gating of Cx46 gap junction hemichannels by calcium and voltage
-
Pfahnl, Dahl G. Gating of Cx46 gap junction hemichannels by calcium and voltage. Pfugers Arch. 437:1999;345-353.
-
(1999)
Pfugers Arch.
, vol.437
, pp. 345-353
-
-
Pfahnl1
Dahl, G.2
-
29
-
-
0027442575
-
Identification of a proline residue as a transduction element involved in voltage gating of gap junctions
-
Suchyna T.M., Xu L.X., Gao F., Furtner C.R., 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
Furtner, C.R.4
Nicholson, B.J.5
-
30
-
-
0028906886
-
The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains
-
Leube R.E. The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains. J. Cell Sci. 108:1995;883-894.
-
(1995)
J. Cell Sci.
, vol.108
, pp. 883-894
-
-
Leube, R.E.1
-
31
-
-
0029761078
-
Human connexin37 is polymorphic but not mutated in tumors
-
Krutovskikh V., Mironov N.M., Yamasaki H. Human connexin37 is polymorphic but not mutated in tumors. Carcinogenesis. 17:1996;1761-1763.
-
(1996)
Carcinogenesis
, vol.17
, pp. 1761-1763
-
-
Krutovskikh, V.1
Mironov, N.M.2
Yamasaki, H.3
-
32
-
-
0028960778
-
Functional analysis of amino acid sequences in connexin 43 involved in intercellular communication through gap junctions
-
Backer D.L., Evans W.H., Green C.R., Warner A. Functional analysis of amino acid sequences in connexin 43 involved in intercellular communication through gap junctions. J. Cell Sci. 108:1995;1455-1467.
-
(1995)
J. Cell Sci.
, vol.108
, pp. 1455-1467
-
-
Backer, D.L.1
Evans, W.H.2
Green, C.R.3
Warner, A.4
-
33
-
-
0032410572
-
Inhibition of intrinsic gap junction intercellular communication and enhancement of tumorigenicity of rat bladder carcinoma BC31 cell line by dominant-negative Cx43 mutant
-
Krutovskikh V., Yamasaki H., Tsuda H., Asamoto M. Inhibition of intrinsic gap junction intercellular communication and enhancement of tumorigenicity of rat bladder carcinoma BC31 cell line by dominant-negative Cx43 mutant. Mol. Carcinog. 23:1998;254-261.
-
(1998)
Mol. Carcinog.
, vol.23
, pp. 254-261
-
-
Krutovskikh, V.1
Yamasaki, H.2
Tsuda, H.3
Asamoto, M.4
-
34
-
-
0025860261
-
Functional analysis of human cardiac junction channel mutants
-
Fishman G.I., Moreno A.P., Spray D.C., Leinwand L.A. Functional analysis of human cardiac junction channel mutants. Proc. Natl. Acad. Sci., U.S.A. 88:1991;3525-3529.
-
(1991)
Proc. Natl. Acad. Sci., U.S.A.
, vol.88
, pp. 3525-3529
-
-
Fishman, G.I.1
Moreno, A.P.2
Spray, D.C.3
Leinwand, L.A.4
-
35
-
-
0344171987
-
Altered formation of hemichannels and gap junction channels by C-terminal connexin-32 mutations
-
Castro C., Gomez-Hernandez J.M., Silander K., Barrio L.C. Altered formation of hemichannels and gap junction channels 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
-
36
-
-
0032557460
-
Direct association of the gap junction protein connexin43 with ZO-1 in cardiac myocytes
-
Toyofuku T., Yabuki M., Otsu K., Kuzuya T., Hori M., Tada M. Direct association of the gap junction protein connexin43 with ZO-1 in cardiac myocytes. J. Biol. Chem. 172:1998;12725-12731.
-
(1998)
J. Biol. Chem.
, vol.172
, pp. 12725-12731
-
-
Toyofuku, T.1
Yabuki, M.2
Otsu, K.3
Kuzuya, T.4
Hori, M.5
Tada, M.6
-
37
-
-
13144252170
-
The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein
-
Giepmans B.N.G., Moolenaar W.H. The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein. Curr. Biol. 8:1998;931-934.
-
(1998)
Curr. Biol.
, vol.8
, pp. 931-934
-
-
Giepmans, B.N.G.1
Moolenaar, W.H.2
-
38
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J., Scherer S.S., Wang S., Oronzi Scott M., Bone L.J., Paul D.L., Chen K., Lensch M.W., Chance P.F., Fischbeck K.H. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 262:1993;2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Oronzi Scott, M.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
39
-
-
0002361120
-
The role of the gap junction protein connexin32 in the myelin sheath
-
in: Juurlink et al. (Eds.), Plenum, New York
-
S.S. Scherer, L.J. Bone, S.M. Deschenes, K. Fischbeck, R.J. Balice-Gordon, The role of the gap junction protein connexin32 in the myelin sheath, in: Juurlink et al. (Eds.), Cell Biology and Pathology of Myelin, Plenum, New York, 1997, pp. 83-102.
-
(1997)
Cell Biology and Pathology of Myelin
, pp. 83-102
-
-
Scherer, S.S.1
Bone, L.J.2
Deschenes, S.M.3
Fischbeck, K.4
Balice-Gordon, R.J.5
-
40
-
-
0032477311
-
54th ENMC international workshop on genotype/ghenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies
-
3rd Workshop of the European CMT Consortium 28-30 November Naarden, The Netherlands
-
3rd Workshop of the European CMT Consortium: 54th ENMC international workshop on genotype/ghenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands, Neuromuscular Disord., 8 (1998) 591-603.
-
(1997)
Neuromuscular Disord.
, vol.8
, pp. 591-603
-
-
-
41
-
-
0032948117
-
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
-
Nelis E., Haites N., van Broeckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum. Mutat. 13:1999;11-28.
-
(1999)
Hum. Mutat.
, vol.13
, pp. 11-28
-
-
Nelis, E.1
Haites, N.2
Van Broeckhoven, C.3
-
42
-
-
0032066457
-
X-linked dominant Charcot-Marie-Tooth disease: Nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Cin)
-
Senderek J., Bergmann C., Quasthoff S., Ramaekers V.T., Schroder J.M. X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Cin). Acta Neuropathol. (Berl). 95:1998;443-449.
-
(1998)
Acta Neuropathol. (Berl).
, vol.95
, pp. 443-449
-
-
Senderek, J.1
Bergmann, C.2
Quasthoff, S.3
Ramaekers, V.T.4
Schroder, J.M.5
-
43
-
-
0033596845
-
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation R142Q
-
Stojkovic T., Latour P., Vandenberghe A., Hurtevent J.F., Vermersch P. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation R142Q. Neurology. 52:1999;1010-1014.
-
(1999)
Neurology
, vol.52
, pp. 1010-1014
-
-
Stojkovic, T.1
Latour, P.2
Vandenberghe, A.3
Hurtevent, J.F.4
Vermersch, P.5
-
44
-
-
7144264392
-
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies
-
Silander K., Meretoja P., Junoven V., Ignatius J., Pihko H., Saarinen A., Wallden T., Herrgard E., Aula P., Savontaus M.L. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum. Mutat. 12:1998;59-68.
-
(1998)
Hum. Mutat.
, vol.12
, pp. 59-68
-
-
Silander, K.1
Meretoja, P.2
Junoven, V.3
Ignatius, J.4
Pihko, H.5
Saarinen, A.6
Wallden, T.7
Herrgard, E.8
Aula, P.9
Savontaus, M.L.10
-
45
-
-
0031740940
-
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1
-
Ikegami T., Lin C., Kato M., Itoh A., Nonaka I., Kurimura M., Hirayabashi H., Shinobahara Y., Mochizuki A., Hayasaka K. Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. Am. J. Med. Genet. 80:1998;352-355.
-
(1998)
Am. J. Med. Genet.
, vol.80
, pp. 352-355
-
-
Ikegami, T.1
Lin, C.2
Kato, M.3
Itoh, A.4
Nonaka, I.5
Kurimura, M.6
Hirayabashi, H.7
Shinobahara, Y.8
Mochizuki, A.9
Hayasaka, K.10
-
46
-
-
0031797442
-
Efficient neuropathophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations
-
Nicholson G.A., Yeung L., Corbett A. Efficient neuropathophysiologic 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
-
47
-
-
0029977888
-
Correlation between connexin32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V., Ionasescu R., Searby C. Correlation between connexin32 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
-
48
-
-
0030723591
-
Altered trafficking of mutant connexin32
-
Deschenes S.M., Walcott J.L., Wexler T.L., Scherer S.S., Fischbeck K.H. Altered trafficking of mutant connexin32. J. Neurosci. 17:1997;9077-9084.
-
(1997)
J. Neurosci.
, vol.17
, pp. 9077-9084
-
-
Deschenes, S.M.1
Walcott, J.L.2
Wexler, T.L.3
Scherer, S.S.4
Fischbeck, K.H.5
-
49
-
-
0029977355
-
Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
-
Omori Y., Mesnil M., 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
-
50
-
-
0028018109
-
A connexin32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes
-
Rabadan-Diehl C., Dahl G., Werner R. A connexin32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. FEBS Lett. 351:1994;90-94.
-
(1994)
FEBS Lett.
, vol.351
, pp. 90-94
-
-
Rabadan-Diehl, C.1
Dahl, G.2
Werner, R.3
-
51
-
-
0032100768
-
Connexin 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., Bruzzone R. Connexin 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
-
52
-
-
0030777706
-
Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
-
Oh S., Ri Y., Bennett M.V.L., Trexler E.B., Verselis V.K., 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.L.3
Trexler, E.B.4
Verselis, V.K.5
Bargiello, T.A.6
-
53
-
-
0028018967
-
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
-
Bruzzone R., White T.W., Scherer S.S., Fischbeck K.H., 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
-
54
-
-
0032547941
-
A new era in the genetics of deafness
-
Steel K.P. A new era in the genetics of deafness. N. Engl. J. Med. 339:1998;1545-1547.
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 1545-1547
-
-
Steel, K.P.1
-
55
-
-
0031007349
-
Connexin 26 hereditary non-syndromic sensorineural deafness
-
Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., Leigh I.M. Connexin 26 hereditary non-syndromic sensorineural deafness. Nature. 387:1997;80-83.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
56
-
-
0033056952
-
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in connexin 26 (GJB2) gene
-
Rabionet R., Estivill X. Allele specific oligonucleotide analysis of the common deafness mutation 35delG in connexin 26 (GJB2) gene. J. Med. Genet. 36:1999;260-261.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 260-261
-
-
Rabionet, R.1
Estivill, X.2
-
57
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estvill X., Fortina P., Surray S., Rabionet R., Melchionda S., D'Agruma L., Mansfield E., Rappoport E., Govea N., Mila M., Zelante L., Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 351:1998;394-398.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estvill, X.1
Fortina, P.2
Surray, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
Mansfield, E.7
Rappoport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
58
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell R.J., Kim H.J., Hood L.J., Goforth L., Friderici K., Fisher R., Van Camp G., Berlin C.I., Oddoux C., Ostrer H., Keats B., Friedman T.B. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339:1998;1500-1501.
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 1500-1501
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.B.12
-
59
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterranean
-
Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agrima L., Govea N., Mila M., Monica M.D., Lutfi J., Shohat M., Mansfield E., Delgrosso K., Rappaport E., Surrey S., Fortina P. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterranean. Hum. Mol. Genet. 6:1997;1605-1609.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agrima, L.5
Govea, N.6
Mila, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
-
60
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., Kimberling W.J. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 62:1998;792-799.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 792-799
-
-
Kelley, P.M.1
Harris, D.J.2
Comer, B.C.3
Askew, J.W.4
Fowler, T.5
Smith, S.D.6
Kimberling, W.J.7
-
61
-
-
9844252338
-
Prelingual deafness: High prevalence of 30gelG mutation in the connexin 26 gene
-
Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J., Allen-Powell D.R., Osborn A.H., Dahl H.-H.M., Middleton A., Houseman M.J., Dode C., Marlin S., Boulila-ElGaied A., Grati M., Ayadi H., BenArab S., Bitoun P., Lina-Granade G., Godet J., Mustapha M., Loiselet J., El-Zir E., Aubois A., Joannard A., Levilliers J., Garabedian E.-N., Mueller R.F., McKinlay R.J., Petit C. Prelingual deafness: high prevalence of 30gelG mutation in the connexin 26 gene. Hum. Mol. Genet. 6:1997;2173-2177.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
Wilcox, S.A.4
Lench, N.J.5
Allen-Powell, D.R.6
Osborn, A.H.7
Dahl, H.-H.M.8
Middleton, A.9
Houseman, M.J.10
Dode, C.11
Marlin, S.12
Boulila-Elgaied, A.13
Grati, M.14
Ayadi, H.15
Benarab, S.16
Bitoun, P.17
Lina-Granade, G.18
Godet, J.19
Mustapha, M.20
Loiselet, J.21
El-Zir, E.22
Aubois, A.23
Joannard, A.24
Levilliers, J.25
Garabedian, E.-N.26
Mueller, R.F.27
McKinlay, R.J.28
Petit, C.29
more..
-
62
-
-
0031982160
-
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)
-
Lench N.J., Markham A.F., Mueller R.F., Kelsell D.P., Smith R.J.H., Willems P.J., Schatteman I., Capon H., Van De Heyning P.J., Van Camp G. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J. Med. Genet. 35:1998;151-152.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 151-152
-
-
Lench, N.J.1
Markham, A.F.2
Mueller, R.F.3
Kelsell, D.P.4
Smith, R.J.H.5
Willems, P.J.6
Schatteman, I.7
Capon, H.8
Van De Heyning, P.J.9
Van Camp, G.10
-
63
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott D.A., Kraft M.L., Carmi R., Ramesh A., Elbedour K., Yairi Y., Srisailapathy C.R., Rosengren S.S., Markham A.F., Mueller R.F., Lench N.J., Van Camp G., Smith R.J., Sheffield V.C. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 11:1998;387-394.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
Srisailapathy, C.R.7
Rosengren, S.S.8
Markham, A.F.9
Mueller, R.F.10
Lench, N.J.11
Van Camp, G.12
Smith, R.J.13
Sheffield, V.C.14
-
64
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
Carasquillo M.M., Zlotogora J., Barges S., 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
-
-
Carasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
65
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensoneural deafness in Africa
-
Brobby G.W., Muller-Myhsok B., Hortsmann R.D. Connexin 26 R143W mutation associated with recessive nonsyndromic sensoneural deafness in Africa. N. Engl. J. Med. 338:1998;548-549.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 548-549
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Hortsmann, R.D.3
-
66
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness
-
Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H., Levi-Acobas F., Weil D., Petit C. Connexin 26 gene linked to a dominant deafness. Nature. 393:1998;319-320.
-
(1998)
Nature
, vol.393
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
Bruzzone, R.4
Chaib, H.5
Levi-Acobas, F.6
Weil, D.7
Petit, C.8
-
67
-
-
0032790899
-
A missense mutation in Connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
-
Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiaghni S., Scudder P.M., Hovnanian A., Monaco A.P., Munro C.S. A missense mutation in Connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum. Mol. Genet. 8:1999;1237-1243.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1237-1243
-
-
Maestrini, E.1
Korge, B.P.2
Ocana-Sierra, J.3
Calzolari, E.4
Cambiaghni, S.5
Scudder, P.M.6
Hovnanian, A.7
Monaco, A.P.8
Munro, C.S.9
-
68
-
-
0031722150
-
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplanar keratoderma
-
Richard G., White T.W., Smith L.E., Bailey R.A., Compton J.G., Paul D.L., Bale S.J. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplanar 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
-
69
-
-
0031933645
-
Connexin mutations and hearing loss
-
Scott D.A., Kraft M.L., Stone E.M., Sheffield V.C., Smith R.J.H. Connexin mutations and hearing loss. Nature. 391:1998;32.
-
(1998)
Nature
, vol.391
, pp. 32
-
-
Scott, D.A.1
Kraft, M.L.2
Stone, E.M.3
Sheffield, V.C.4
Smith, R.J.H.5
-
71
-
-
0031772251
-
One connexin, two diseases
-
Steel K.P. One connexin, two diseases. Nat. Genet. 20:1998;319-320.
-
(1998)
Nat. Genet.
, vol.20
, pp. 319-320
-
-
Steel, K.P.1
-
72
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia J.H., Liu C.Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R., Xie W., Hu D.X., Zheng D., Shi X.L., Wang D.A., Xia K., Yu K.P., Liao X.D., Feng Y., Yang Y.F., Xiao J.Y., Xie D.H., Huang J.Z. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet. 20:1998;370-373.
-
(1998)
Nat. Genet.
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
Pan, Q.4
Huang, L.5
Dai, H.P.6
Zhang, B.R.7
Xie, W.8
Hu, D.X.9
Zheng, D.10
Shi, X.L.11
Wang, D.A.12
Xia, K.13
Yu, K.P.14
Liao, X.D.15
Feng, Y.16
Yang, Y.F.17
Xiao, J.Y.18
Xie, D.H.19
Huang, J.Z.20
more..
-
73
-
-
0031796918
-
Mutations in the human connexin gene GJB3 cause erythrokeratoderma variabilis
-
Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstain E.H. Jr., diGiovanna J.J., Compton J.G., Bale S.J. Mutations in the human connexin gene GJB3 cause erythrokeratoderma variabilis. Nat. Genet. 20:1998;366-369.
-
(1998)
Nat. Genet.
, vol.20
, pp. 366-369
-
-
Richard, G.1
Smith, L.E.2
Bailey, R.A.3
Itin, P.4
Hohl, D.5
Epstain E.H., Jr.6
Digiovanna, J.J.7
Compton, J.G.8
Bale, S.J.9
-
74
-
-
0031959735
-
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
-
Shiels, Mackay D., Ionides A., Berry V., Moore A., Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am. J. Hum. Genet. 62:1998;526-532.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 526-532
-
-
Shiels1
Mackay, D.2
Ionides, A.3
Berry, V.4
Moore, A.5
Bhattacharya, S.6
-
75
-
-
0141498594
-
Connexin46 mutations in autosomal dominant congenital cataract
-
Mackay D., Ionides A., Kibar Z., Rouleau G., Berry V., Moore A., Shiels A., Bhattacharya S. Connexin46 mutations in autosomal dominant congenital cataract. Am. J. Hum. Genet. 64:1999;1357-1364.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1357-1364
-
-
Mackay, D.1
Ionides, A.2
Kibar, Z.3
Rouleau, G.4
Berry, V.5
Moore, A.6
Shiels, A.7
Bhattacharya, S.8
-
76
-
-
0029060788
-
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., 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
-
77
-
-
0029165467
-
Connexin43 mutations in sporadic and familial defects of laterality
-
Casey B., Ballabio A. Connexin43 mutations in sporadic and familial defects of laterality. N. Engl. J. Med. 333:1995;941.
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 941
-
-
Casey, B.1
Ballabio, A.2
-
78
-
-
0004600209
-
Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy
-
Penman S.M., Tsai M.Y., Burn J., Goodship J.J. 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, S.M.1
Tsai, M.Y.2
Burn, J.3
Goodship, J.J.4
-
79
-
-
0031658660
-
A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract
-
Steele E.C. Jr., Lyon M.F., Favor J., Guillot P.V., Boyd Y., Church R.L. A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr. Eye Res. 17:1998;883-889.
-
(1998)
Curr. Eye Res.
, vol.17
, pp. 883-889
-
-
Steele E.C., Jr.1
Lyon, M.F.2
Favor, J.3
Guillot, P.V.4
Boyd, Y.5
Church, R.L.6
|