-
1
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami SI, Shinkawa H, Kelley PM, Kimberling WJ: Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000;37:41-43.
-
(2000)
J Med Genet
, vol.37
, pp. 41-43
-
-
Abe, S.1
Usami, S.I.2
Shinkawa, H.3
Kelley, P.M.4
Kimberling, W.J.5
-
2
-
-
0038351949
-
Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mouse
-
Ahmad S, Chen S, Sun J, Lin X, Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mouse. Biochem Biophys Res Commun 2003;307:362-368.
-
(2003)
Biochem Biophys Res Commun
, vol.307
, pp. 362-368
-
-
Ahmad, S.1
Chen, S.2
Sun, J.3
Lin, X.4
-
3
-
-
0033361767
-
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease
-
Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I: Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 1999;64:1216-1221.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1216-1221
-
-
Auricchio, A.1
Griseri, P.2
Carpentieri, M.L.3
Betsos, N.4
Staiano, A.5
Tozzi, A.6
Priolo, M.7
Thompson, H.8
Bocciardi, R.9
Romeo, G.10
Ballabio, A.11
Ceccherini, I.12
-
4
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH: Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Scott, M.O.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
5
-
-
0035138572
-
Heteromeric connexons formed by the lens connexins, connexin43 and connexin56
-
Berthoud VM, Montegna EA, Atal N, Aithal NH, Brink PR, Beyer EC: Heteromeric connexons formed by the lens connexins, connexin43 and connexin56. Eur J Cell Biol 2001;80:11-19.
-
(2001)
Eur J Cell Biol
, vol.80
, pp. 11-19
-
-
Berthoud, V.M.1
Montegna, E.A.2
Atal, N.3
Aithal, N.H.4
Brink, P.R.5
Beyer, E.C.6
-
6
-
-
0032579554
-
Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules
-
Bevans CG, Kordel M, Rhee SK, Harris AL: Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules. J Biol Chem 1998;273:2808-2816.
-
(1998)
J Biol Chem
, vol.273
, pp. 2808-2816
-
-
Bevans, C.G.1
Kordel, M.2
Rhee, S.K.3
Harris, A.L.4
-
7
-
-
0030697297
-
Evidence for heteromeric gap junction channels formed from rat connexin43 and human connexin37
-
Brink PR, Cronin K, Banach K, Peterson E, Westphale EM, Seul KH, Ramanan SV, Beyer EC: Evidence for heteromeric gap junction channels formed from rat connexin43 and human connexin37. Am J Physiol 1997;273:C1386-C1396.
-
(1997)
Am J Physiol
, vol.273
-
-
Brink, P.R.1
Cronin, K.2
Banach, K.3
Peterson, E.4
Westphale, E.M.5
Seul, K.H.6
Ramanan, S.V.7
Beyer, E.C.8
-
8
-
-
0029060788
-
Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality
-
Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH: Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 1995;332:1323-1329.
-
(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
-
9
-
-
2442637577
-
Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear
-
Cohen-Salmon M, Maxeiner S, Kruger O, Theis M, Willecke K, Petit C: Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear. Cell Tissue Res 2004;316:15-22.
-
(2004)
Cell Tissue Res
, vol.316
, pp. 15-22
-
-
Cohen-Salmon, M.1
Maxeiner, S.2
Kruger, O.3
Theis, M.4
Willecke, K.5
Petit, C.6
-
10
-
-
33751255682
-
The contribution of GJB2 mutations to slight/mild hearing loss in Australian elementary school children
-
Dahl HH, Tobin SE, Poulakis Z, Rickards FW, Xu X, Gillam L, Williams J, Saunders K, Cone-Wesson B, Wake M: The contribution of GJB2 mutations to slight/mild hearing loss in Australian elementary school children. J Med Genet 2006;43:850-855.
-
(2006)
J Med Genet
, vol.43
, pp. 850-855
-
-
Dahl, H.H.1
Tobin, S.E.2
Poulakis, Z.3
Rickards, F.W.4
Xu, X.5
Gillam, L.6
Williams, J.7
Saunders, K.8
Cone-Wesson, B.9
Wake, M.10
-
11
-
-
22244489070
-
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment (letter)
-
Del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H: A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment (letter). J Med Genet 2005;42:588-594.
-
(2005)
J Med Genet
, vol.42
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leonardi, E.5
de Oliveira, C.A.6
Azaiez, H.7
Brownstein, Z.8
Avenarius, M.R.9
Marlin, S.10
Pandya, A.11
Shahin, H.12
-
12
-
-
0037165262
-
A deletion involving the Connexin 30 gene in non-syndromic hearing impairment
-
Del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F: A deletion involving the Connexin 30 gene in non-syndromic hearing impairment. N Engl J Med 2002;346:243-249.
-
(2002)
N Engl J Med
, vol.346
, pp. 243-249
-
-
Del Castillo, I.1
Villamar, M.2
Moreno-Pelayo, M.A.3
del Castillo, F.J.4
Alvarez, A.5
Telleria, D.6
Menendez, I.7
Moreno, F.8
-
13
-
-
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 1998;393:319-320.
-
(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
-
14
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, 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, Petit C: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-2177.
-
(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.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
Petit, C.25
more..
-
15
-
-
0035991948
-
Gap junctions: Structure and function (review)
-
Evans WH, Martin PE: Gap junctions: structure and function (review). Mol Membr Biol 2002;19:121-136.
-
(2002)
Mol Membr Biol
, vol.19
, pp. 121-136
-
-
Evans, W.H.1
Martin, P.E.2
-
17
-
-
0242266904
-
Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals
-
Forge A, Becker D, Casalotti S, Edwards J, Marziano N, Nevill G: Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals. J Comp Neurol 2003;467:207-231.
-
(2003)
J Comp Neurol
, vol.467
, pp. 207-231
-
-
Forge, A.1
Becker, D.2
Casalotti, S.3
Edwards, J.4
Marziano, N.5
Nevill, G.6
-
18
-
-
13144252170
-
The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein
-
Giepmans BNG, Moolenaar WH: The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein. Curr Biol 1998;8:931-934.
-
(1998)
Curr Biol
, vol.8
, pp. 931-934
-
-
Giepmans, B.N.G.1
Moolenaar, W.H.2
-
19
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, López-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P: Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999;23:16-18.
-
(1999)
Nat Genet
, vol.23
, pp. 16-18
-
-
Grifa, A.1
Wagner, C.A.2
D'Ambrosio, L.3
Melchionda, S.4
Bernardi, F.5
López-Bigas, N.6
Rabionet, R.7
Arbones, M.8
Monica, M.D.9
Estivill, X.10
Zelante, L.11
Lang, F.12
Gasparini, P.13
-
20
-
-
0035232752
-
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
-
Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, Horstmann RD: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 2001;18:84-85.
-
(2001)
Hum Mutat
, vol.18
, pp. 84-85
-
-
Hamelmann, C.1
Amedofu, G.K.2
Albrecht, K.3
Muntau, B.4
Gelhaus, A.5
Brobby, G.W.6
Horstmann, R.D.7
-
21
-
-
0035704411
-
Emerging issues of connexin channels: Biophysics fills the gap
-
Harris AL: Emerging issues of connexin channels: biophysics fills the gap. Q Rev Biophys 2001;34:325-472.
-
(2001)
Q Rev Biophys
, vol.34
, pp. 325-472
-
-
Harris, A.L.1
-
22
-
-
0001203743
-
Formation of heteromeric gap junction channels by connexins 40 and 43 in vascular smooth muscle cells
-
He DS, Jiang JX, Taffet SM, Burt JM: Formation of heteromeric gap junction channels by connexins 40 and 43 in vascular smooth muscle cells. Proc Natl Acad Sci USA 1999;96:6495-6500.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6495-6500
-
-
He, D.S.1
Jiang, J.X.2
Taffet, S.M.3
Burt, J.M.4
-
23
-
-
0003853005
-
-
Home
-
Hereditary Hearing Loss Homepage. http://www.uia.ac.be/dnalab/hhh/ hhhgenes.html.
-
Hereditary Hearing Loss
-
-
-
24
-
-
33750597137
-
V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
-
Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S: V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 2006;140:2394-2400.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2394-2400
-
-
Huculak, C.1
Bruyere, H.2
Nelson, T.N.3
Kozak, F.K.4
Langlois, S.5
-
25
-
-
0041303428
-
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness
-
Hwa HL, Ko TM, Hsu CJ, Huang CH, Chiang YL, Oong JL, Chen CC, Hsu CK: Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med 2003;5:161-165.
-
(2003)
Genet Med
, vol.5
, pp. 161-165
-
-
Hwa, H.L.1
Ko, T.M.2
Hsu, C.J.3
Huang, C.H.4
Chiang, Y.L.5
Oong, J.L.6
Chen, C.C.7
Hsu, C.K.8
-
26
-
-
0030052934
-
Heteromeric connexons in lens gap junction channels
-
Jiang JX, Goodenough DA: Heteromeric connexons in lens gap junction channels. Proc Natl Acad Sci USA 1996;93:1287-1291.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 1287-1291
-
-
Jiang, J.X.1
Goodenough, D.A.2
-
27
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
28
-
-
2942702193
-
Connexin43 pseudogene is expressed in tumor cells and inhibits growth
-
Kandouz M, Bier A, Carystinos GD, Alaoui-Jamali MA, Batist G: Connexin43 pseudogene is expressed in tumor cells and inhibits growth. Oncogene 2004;23:4763-4770.
-
(2004)
Oncogene
, vol.23
, pp. 4763-4770
-
-
Kandouz, M.1
Bier, A.2
Carystinos, G.D.3
Alaoui-Jamali, M.A.4
Batist, G.5
-
29
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001;293:2256-2259.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Beales, P.L.2
Woods, M.O.3
Lewis, R.A.4
Green, J.S.5
Parfrey, P.S.6
Ansley, S.J.7
Davidson, W.S.8
Lupski, J.R.9
-
30
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-799.
-
(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
-
31
-
-
0028843286
-
Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
-
Kikuchi T, Kimura RS, Paul DL, Adams JC: Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol 1995;191:101-118.
-
(1995)
Anat Embryol
, vol.191
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
Adams, J.C.4
-
32
-
-
0036605376
-
Cellular mechanisms of connexin32 mutations associated with CNS manifestations
-
Kleopa KA, Yum SW, Scherer SS: Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J Neurosci Res 2002;68:522-534.
-
(2002)
J Neurosci Res
, vol.68
, pp. 522-534
-
-
Kleopa, K.A.1
Yum, S.W.2
Scherer, S.S.3
-
33
-
-
0034080924
-
Connexin gene mutations in human genetic diseases
-
Krutovskikh V, Yamasaki H: Connexin gene mutations in human genetic diseases. Mutat Res 2000;462:197-207.
-
(2000)
Mutat Res
, vol.462
, pp. 197-207
-
-
Krutovskikh, V.1
Yamasaki, H.2
-
34
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe K, Kawase T, Narisawa K, Takasaka T: Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000;90:141-145.
-
(2000)
Am J Med Genet
, vol.90
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.3
Matsubara, Y.4
Oshima, T.5
Watanabe, K.6
Kawase, T.7
Narisawa, K.8
Takasaka, T.9
-
35
-
-
0035180818
-
GJB2 (connexin 26) mutations and childhood deafness in Thailand
-
Kudo T, Ikeda K, Oshima T, Kure S, Tammasaeng M, Prasansuk S, Matsubara Y: GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 2001;22:858-861.
-
(2001)
Otol Neurotol
, vol.22
, pp. 858-861
-
-
Kudo, T.1
Ikeda, K.2
Oshima, T.3
Kure, S.4
Tammasaeng, M.5
Prasansuk, S.6
Matsubara, Y.7
-
36
-
-
0035513485
-
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, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D: A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum Mutat 2001;18:460.
-
(2001)
Hum Mutat
, vol.18
, pp. 460
-
-
Lerer, I.1
Sagi, M.2
Ben-Neriah, Z.3
Wang, T.4
Levi, H.5
Abeliovich, D.6
-
37
-
-
0028906886
-
The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains
-
Leube RE: The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains. J Cell Sci 1995;108:883-894.
-
(1995)
J Cell Sci
, vol.108
, pp. 883-894
-
-
Leube, R.E.1
-
38
-
-
0035663441
-
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
-
Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE: Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet 2001;10:2945-2951.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2945-2951
-
-
Liu, X.Z.1
Xia, X.J.2
Adams, J.3
Chen, Z.Y.4
Welch, K.O.5
Tekin, M.6
Ouyang, X.M.7
Kristiansen, A.8
Pandya, A.9
Balkany, T.10
Arnos, K.S.11
Nance, W.E.12
-
39
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR: The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002;111:394-397.
-
(2002)
Hum Genet
, vol.111
, pp. 394-397
-
-
Liu, X.Z.1
Xia, X.J.2
Ke, X.M.3
Ouyang, X.M.4
Du, L.L.5
Liu, Y.H.6
Angeli, S.7
Telischi, F.F.8
Nance, W.E.9
Balkany, T.10
Xu, L.R.11
-
40
-
-
0034018259
-
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
-
Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE: Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000;9:63-67.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 63-67
-
-
Liu, X.Z.1
Xia, X.J.2
Xu, L.R.3
Pandya, A.4
Liang, C.Y.5
Blanton, S.H.6
Brown, S.D.7
Steel, K.P.8
Nance, W.E.9
-
41
-
-
0036551020
-
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
-
López-Bigas N, Melchionda S, Gasparini P, Borragán A, Arbonés ML, Estivill X: A common frameshift mutation and other variants in GJB4 (connexin 30.3): analysis of hearing impairment families. Hum Mutat 2002;19:458.
-
(2002)
Hum Mutat
, vol.19
, pp. 458
-
-
López-Bigas, N.1
Melchionda, S.2
Gasparini, P.3
Borragán, A.4
Arbonés, M.L.5
Estivill, X.6
-
42
-
-
0034184068
-
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
-
López-Bigas N, Rabionet R, Martinez E, Banchs I, Volpini V, Vance J, Arbones M, Estivill X: Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. Hum Mutat 2000;15:481-482.
-
(2000)
Hum Mutat
, vol.15
, pp. 481-482
-
-
López-Bigas, N.1
Rabionet, R.2
Martinez, E.3
Banchs, I.4
Volpini, V.5
Vance, J.6
Arbones, M.7
Estivill, X.8
-
43
-
-
0029166965
-
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population
-
Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, Hayward NK, Gardner RJ: The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 1995;57:629-635.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 629-635
-
-
Maw, M.A.1
Allen-Powell, D.R.2
Goodey, R.J.3
Stewart, I.A.4
Nancarrow, D.J.5
Hayward, N.K.6
Gardner, R.J.7
-
44
-
-
4444341882
-
A novel connexin 26 gene mutation associated with features of the keratitisichthyosis- deafness syndrome and the follicular occlusion triad
-
Montgomery JR, White TW, Martin BL, Turner ML, Holland SM: A novel connexin 26 gene mutation associated with features of the keratitisichthyosis- deafness syndrome and the follicular occlusion triad. J Am Acad Dermatol 2004;51:377-382.
-
(2004)
J Am Acad Dermatol
, vol.51
, pp. 377-382
-
-
Montgomery, J.R.1
White, T.W.2
Martin, B.L.3
Turner, M.L.4
Holland, S.M.5
-
45
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell R, Kim H, Hood L, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin C, Oddoux C, Ostrer H, Keats B, Friedman T: Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-1505.
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.1
Kim, H.2
Hood, L.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.12
-
46
-
-
0037092599
-
Genetics, genomics and gene discovery in the auditory system
-
Morton CC: Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 2002;11:1229-1240.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1229-1240
-
-
Morton, C.C.1
-
47
-
-
0026410464
-
Genetic epidemiogy of hearing impairment
-
Morton NE: Genetic epidemiogy of hearing impairment. Ann NY Acad Sci 1991;630:16-31.
-
(1991)
Ann NY Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
48
-
-
85047699401
-
A large deletion including most of GJB6 in recessive nonsyndromic deafness: A digenic effect?
-
Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF: A large deletion including most of GJB6 in recessive nonsyndromic deafness: a digenic effect? Eur J Hum Genet 2002;10:72-76.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 72-76
-
-
Pallares-Ruiz, N.1
Blanchet, P.2
Mondain, M.3
Claustres, M.4
Roux, A.F.5
-
49
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN: Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000;110:1535-1538.
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
Park, K.4
Kim, H.N.5
-
50
-
-
0037320927
-
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
-
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408-418.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 408-418
-
-
Paznekas, W.A.1
Boyadjiev, S.A.2
Shapiro, R.E.3
Daniels, O.4
Wollnik, B.5
Keegan, C.E.6
Innis, J.W.7
Dinulos, M.B.8
Christian, C.9
Hannibal, M.C.10
Jabs, E.W.11
-
51
-
-
0036247733
-
Connexin mutations in hearing loss, dermatological and neurological disorders
-
Rabionet R, López-Bigas N, Arbones ML, Estivill X: Connexin mutations in hearing loss, dermatological and neurological disorders. Trends Mol Med 2002;8:205-212.
-
(2002)
Trends Mol Med
, vol.8
, pp. 205-212
-
-
Rabionet, R.1
López-Bigas, N.2
Arbones, M.L.3
Estivill, X.4
-
52
-
-
0028907907
-
Cardiac malformation in neonatal mice lacking connexin43
-
Reaume AG, de Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J: Cardiac malformation in neonatal mice lacking connexin43. Science 1995;267:1831-1834.
-
(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
-
53
-
-
0030271580
-
The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency
-
Spicer SS, Schulte BA: The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency. Hear Res 1996;100:80-100.
-
(1996)
Hear Res
, vol.100
, pp. 80-100
-
-
Spicer, S.S.1
Schulte, B.A.2
-
54
-
-
0031900032
-
+ recycling pathway from inner hair cells
-
+ recycling pathway from inner hair cells. Hear Res 1998;118:1-12.
-
(1998)
Hear Res
, vol.118
, pp. 1-12
-
-
Spicer, S.S.1
Schulte, B.A.2
-
56
-
-
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 1998;172:12725-12731.
-
(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
-
58
-
-
0035991723
-
Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan
-
Wang YC, Kung CY, Su MC, Su CC, Hsu HM, Tsai CC, Lin CC, Li SY: Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan. Eur J Hum Genet 2002;10:495-498.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 495-498
-
-
Wang, Y.C.1
Kung, C.Y.2
Su, M.C.3
Su, C.C.4
Hsu, H.M.5
Tsai, C.C.6
Lin, C.C.7
Li, S.Y.8
-
59
-
-
0034096496
-
High frequency hearing loss correlated with mutations in the GJB2 gene
-
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, Gardner RJM, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HHM: High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000;106:399-405.
-
(2000)
Hum Genet
, vol.106
, pp. 399-405
-
-
Wilcox, S.A.1
Saunders, K.2
Osborn, A.H.3
Arnold, A.4
Wunderlich, J.5
Kelly, T.6
Collins, V.7
Wilcox, L.J.8
Gardner, R.J.M.9
Kamarinos, M.10
Cone-Wesson, B.11
Williamson, R.12
Dahl, H.H.M.13
-
60
-
-
0034601403
-
Expression of connexin 31 in the developing mouse cochlea
-
Xia AP, Ikeda K, Katori Y, Oshima T, Kikuchi T, Takasaka T: Expression of connexin 31 in the developing mouse cochlea. Neuroreport 2000;11:2449-2453.
-
(2000)
Neuroreport
, vol.11
, pp. 2449-2453
-
-
Xia, A.P.1
Ikeda, K.2
Katori, Y.3
Oshima, T.4
Kikuchi, T.5
Takasaka, T.6
-
61
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ: Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998;20:370-373.
-
(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..
-
63
-
-
0036451762
-
Diverse trafficking abnormalities of connexin32 mutants causing CMTX
-
Yum SW, Kleopa KA, Shumas S, Scherer SS: Diverse trafficking abnormalities of connexin32 mutants causing CMTX. Neurobiol Dis 2002;11:43-52.
-
(2002)
Neurobiol Dis
, vol.11
, pp. 43-52
-
-
Yum, S.W.1
Kleopa, K.A.2
Shumas, S.3
Scherer, S.S.4
-
64
-
-
0030897850
-
Identification of a pore lining segment in gap junction hemichannels
-
Zhou XW, Pfahnl A, Werner R, Hudder A, Llanes A, Lubeke A, Dahl G: Identification of a pore lining segment in gap junction hemichannels. Biophys J 1997;72:1946-1953.
-
(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
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