-
1
-
-
0028798825
-
Basal promoter of the rat connexin32 gene: Identification and characterization of an essential element and its DNA-binding protein
-
Bai S, Schoenfeld A, Pietrangelo A, Burk RD (1995) Basal promoter of the rat connexin32 gene: identification and characterization of an essential element and its DNA-binding protein. Mol Cell Biol 3:1439-1445
-
(1995)
Mol Cell Biol
, vol.3
, pp. 1439-1445
-
-
Bai, S.1
Schoenfeld, A.2
Pietrangelo, A.3
Burk, R.D.4
-
2
-
-
0027772413
-
Connexin in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer S, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, 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
-
3
-
-
0029431669
-
New connexin32 mutations associated with X-linked CharcotMarie-Tooth disease
-
Bone LJ, Dahl N, Lensch BS, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH (1995a) New connexin32 mutations associated with X-linked CharcotMarie-Tooth disease. Neurology 45:1863-1866
-
(1995)
Neurology
, vol.45
, pp. 1863-1866
-
-
Bone, L.J.1
Dahl, N.2
Lensch, B.S.3
Chance, P.F.4
Kelly, T.5
Le Guern, E.6
Magi, S.7
Parry, G.8
Shapiro, H.9
Wang, S.10
Fischbeck, K.H.11
-
4
-
-
0006954457
-
The disease mechanism for X-linked Charcot-Marie-Tooth disease
-
Bone LJ, Scherer SS, Balice-Gordon RJ, Paul DL, Fischbeck KH (1995b) The disease mechanism for X-linked Charcot-Marie-Tooth disease [abstract]. Am J Hum Genet 57 (Suppl):1366
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
, pp. 1366
-
-
Bone, L.J.1
Scherer, S.S.2
Balice-Gordon, R.J.3
Paul, D.L.4
Fischbeck, K.H.5
-
5
-
-
0028018967
-
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
-
Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL (1994) Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13:1253-1260
-
(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
-
6
-
-
0010983167
-
Mutational studies in X-linked Charcot-Marie-Tooth disease
-
Cherryson AK, Yeung L, Kennerson ML, Nicholson GA (1994) Mutational studies in X-linked Charcot-Marie-Tooth disease [abstract]. Am J Hum Genet 55 (Suppl):1261
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 1261
-
-
Cherryson, A.K.1
Yeung, L.2
Kennerson, M.L.3
Nicholson, G.A.4
-
7
-
-
0026683603
-
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1
-
Corcos IA, Lafreniere RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (1992) Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics 13:479-180
-
(1992)
Genomics
, vol.13
, pp. 479-1180
-
-
Corcos, I.A.1
Lafreniere, R.G.2
Begy, C.R.3
Loch-Caruso, R.4
Willard, H.F.5
Glover, T.W.6
-
9
-
-
0028014579
-
Mutations in connexin32 gene in X-linked Charcot-Marie-Tooth disease (1)
-
Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE (1994) Mutations in connexin32 gene in X-linked Charcot-Marie-Tooth disease (1). Hum Mol Genet 3:29-34
-
(1994)
Hum Mol Genet
, vol.3
, pp. 29-34
-
-
Fairweather, N.1
Bell, C.2
Cochrane, S.3
Chelly, J.4
Wang, S.5
Mostacciuolo, M.L.6
Monaco, A.P.7
Haites, N.E.8
-
10
-
-
0021908106
-
X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq
-
Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH, Wienker TF (1985) X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38-42
-
(1985)
Hum Genet
, vol.70
, pp. 38-42
-
-
Gal, A.1
Mucke, J.2
Theile, H.3
Wieacker, P.F.4
Ropers, H.H.5
Wienker, T.F.6
-
11
-
-
0020406371
-
H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth Disease
-
Heimans JJ, Lindhout D, Huisman UW, Kwee ML, Visser SL, Whitton HW (1982) H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth Disease. Clin Neurol Neurosurg 84:147-158
-
(1982)
Clin Neurol Neurosurg
, vol.84
, pp. 147-158
-
-
Heimans, J.J.1
Lindhout, D.2
Huisman, U.W.3
Kwee, M.L.4
Visser, S.L.5
Whitton, H.W.6
-
12
-
-
0028088839
-
Point mutations of the connexin32 (GJB 1 ) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Searby C, Ionasescu R (1994) Point mutations of the connexin32 (GJB 1 ) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3:355-358
-
(1994)
Hum Mol Genet
, vol.3
, pp. 355-358
-
-
Ionasescu, V.1
Searby, C.2
Ionasescu, R.3
-
13
-
-
0029054613
-
New point mutations and deletions of the connexin32 gene in X-linked Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Searby C, Ionasescu R, Meschino W (1995) New point mutations and deletions of the connexin32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromuscul Disord 5:297-299
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 297-299
-
-
Ionasescu, V.1
Searby, C.2
Ionasescu, R.3
Meschino, W.4
-
14
-
-
0023033171
-
Cloning and characterization of human and rat liver cDNA's coding for a gap junction protein
-
Kumar NM, Gilula NB (1986) Cloning and characterization of human and rat liver cDNA's coding for a gap junction protein. J Cell Biol 103:767-776
-
(1986)
J Cell Biol
, vol.103
, pp. 767-776
-
-
Kumar, N.M.1
Gilula, N.B.2
-
16
-
-
0029035158
-
Use of alternate promoters for specific tissue-specific expression of the gene coding for connexin32
-
Neuhaus IM, Dahl G, Werner R (1995) Use of alternate promoters for specific tissue-specific expression of the gene coding for connexin32. Gene 158:257-262
-
(1995)
Gene
, vol.158
, pp. 257-262
-
-
Neuhaus, I.M.1
Dahl, G.2
Werner, R.3
-
17
-
-
0028040519
-
X-linked dominant Charcot-Marie-Tooth neuropathy: Valine-38-methionine substitution of connexin32
-
Orth U, Fairweather N, Exler M, Schwinger E, Gal A (1994) X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32. Hum Mol Genet 9:1699-1700
-
(1994)
Hum Mol Genet
, vol.9
, pp. 1699-1700
-
-
Orth, U.1
Fairweather, N.2
Exler, M.3
Schwinger, E.4
Gal, A.5
-
18
-
-
0022531305
-
Molecular cloning of CDNA for rat liver gap junction protein
-
Paul DL (1986) Molecular cloning of CDNA for rat liver gap junction protein. J Cell Biol 103:123-134
-
(1986)
J Cell Biol
, vol.103
, pp. 123-134
-
-
Paul, D.L.1
-
19
-
-
0029074978
-
Consortium for the fine localization of X-linked Charcot-Marie-Tooth disease (1): Additional support that connexin32 is the defect in CMTX1
-
Pericak-Vance MA, Barker DF, Bergoffen J, Chance P, Cochrane S, Dahl N, Exler M-C, Fain PR, Fairweather ND, Fischbeck K, Gal A, Haites N, Ionasescu R, Ionasescu VV, Kennerson ML, Monaco AP, Mostacciuolo M, Nicholson GA, Sillen A, Haines JL (1995) Consortium for the fine localization of X-linked Charcot-Marie-Tooth disease (1): additional support that connexin32 is the defect in CMTX1. Hum Hered 45:121-128
-
(1995)
Hum Hered
, vol.45
, pp. 121-128
-
-
Pericak-Vance, M.A.1
Barker, D.F.2
Bergoffen, J.3
Chance, P.4
Cochrane, S.5
Dahl, N.6
Exler, M.-C.7
Fain, P.R.8
Fairweather, N.D.9
Fischbeck, K.10
Gal, A.11
Haites, N.12
Ionasescu, R.13
Ionasescu, V.V.14
Kennerson, M.L.15
Monaco, A.P.16
Mostacciuolo, M.17
Nicholson, G.A.18
Sillen, A.19
Haines, J.L.20
more..
-
20
-
-
8944253782
-
X-linked Charcot-Marie-Tooth neuropathy (CMTX): New mutations in the connexin32 gene
-
Ressot C, Latour P, Blanquet-Grossard F, Sturz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D (1996) X-linked Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene. Hum Genet 98:172-175
-
(1996)
Hum Genet
, vol.98
, pp. 172-175
-
-
Ressot, C.1
Latour, P.2
Blanquet-Grossard, F.3
Sturz, F.4
Duthel, S.5
Battin, J.6
Corbillon, E.7
Ollagnon, E.8
Serville, F.9
Vandenberghe, A.10
Dautigny, A.11
Pham-Dinh, D.12
-
21
-
-
0029060906
-
X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system
-
Spray D, Dermietzel R (1995) X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system. Trends Neurosci 18:256-262
-
(1995)
Trends Neurosci
, vol.18
, pp. 256-262
-
-
Spray, D.1
Dermietzel, R.2
-
22
-
-
0027442575
-
Identification of a proline residue as a transduction element involved in voltage gating of gap junctions
-
Suchyna TM, Xian Xu L, Gao F, Fourtner CR, Nicholson BJ (1993) Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature 365: 847-849
-
(1993)
Nature
, vol.365
, pp. 847-849
-
-
Suchyna, T.M.1
Xian Xu, L.2
Gao, F.3
Fourtner, C.R.4
Nicholson, B.J.5
-
23
-
-
1842269493
-
Novel mutations in the connexin32 gene are associated with X-linked Charcot-Marie-Tooth disease
-
Tan C, Ainsworth P (1994) Novel mutations in the connexin32 gene are associated with X-linked Charcot-Marie-Tooth disease [abstract]. Am J Hum Genet 55 (Suppl):1431
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 1431
-
-
Tan, C.1
Ainsworth, P.2
-
24
-
-
0029942648
-
Novel mutations in the connexin 32 gene associated with X-linked Charcot Marie Tooth disease
-
Tan CC, Ainsworth PJ, Hahn AF, MacLeod PM (1996) Novel mutations in the connexin 32 gene associated with X-linked Charcot Marie Tooth disease. Hum Mutat 7:167-171
-
(1996)
Hum Mutat
, vol.7
, pp. 167-171
-
-
Tan, C.C.1
Ainsworth, P.J.2
Hahn, A.F.3
MacLeod, P.M.4
-
25
-
-
0026071778
-
Gating properties of connexin32 cell-cell channels and their mutants expressed in Xenopus oocytes
-
Werner R, Levine E, Rabadan-Diehl C, Dahl G (1991) Gating properties of connexin32 cell-cell channels and their mutants expressed in Xenopus oocytes. Proc R Soc Lond (Biol) 243: 5-11
-
(1991)
Proc R Soc Lond (Biol)
, vol.243
, pp. 5-11
-
-
Werner, R.1
Levine, E.2
Rabadan-Diehl, C.3
Dahl, G.4
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