-
1
-
-
0347126503
-
An update on connexin genes and their nomenclature in mouse and man
-
Sohl, G.; Willecke, K. An update on connexin genes and their nomenclature in mouse and man. Cell. Commun. Adhes., 2003, 10, 173-180.
-
(2003)
Cell. Commun. Adhes
, vol.10
, pp. 173-180
-
-
Sohl, G.1
Willecke, K.2
-
2
-
-
33644826498
-
Pathways and control of connexin oligomerization
-
Koval, M. Pathways and control of connexin oligomerization. Trends Cell Biol., 2006, 16, 159-166.
-
(2006)
Trends Cell Biol
, vol.16
, pp. 159-166
-
-
Koval, M.1
-
3
-
-
1642417540
-
Electrical synapses: A dynamic signaling system that shapes the activity of neuronal networks
-
Hormuzdi, S.G.; Filippov, M.A.; Mitropoulou, G.; Monyer, H.; Buzzone, R. Electrical synapses: a dynamic signaling system that shapes the activity of neuronal networks. Biochim. Biophys. Acta, 2004, 1662, 113-137.
-
(2004)
Biochim. Biophys. Acta
, vol.1662
, pp. 113-137
-
-
Hormuzdi, S.G.1
Filippov, M.A.2
Mitropoulou, G.3
Monyer, H.4
Buzzone, R.5
-
4
-
-
1342291195
-
Electrical coupling and neuronal synchronization in the Mammalian brain
-
Bennett, M.V.; Zukin, R.S. Electrical coupling and neuronal synchronization in the Mammalian brain. Neuron, 2004, 41, 495-511.
-
(2004)
Neuron
, vol.41
, pp. 495-511
-
-
Bennett, M.V.1
Zukin, R.S.2
-
5
-
-
0029743057
-
Multiple connexin proteins in single intercellular channels: Connexin compatibility and functional consequences
-
White, T.W.; Buzzone, R. Multiple connexin proteins in single intercellular channels: connexin compatibility and functional consequences. J. Bioenerg. Biomembr., 1996, 28, 339-350.
-
(1996)
J. Bioenerg. Biomembr
, vol.28
, pp. 339-350
-
-
White, T.W.1
Buzzone, R.2
-
6
-
-
78650037681
-
Mutations in connexin genes and disease
-
Pfenniger, A.; Wohlwend, A.; Kwak, B.R. Mutations in connexin genes and disease. Eur. J. Clin. Invest., 2011, 41, 103-116.
-
(2011)
Eur. J. Clin. Invest
, vol.41
, pp. 103-116
-
-
Pfenniger, A.1
Wohlwend, A.2
Kwak, B.R.3
-
7
-
-
35348891428
-
Gap junctions: Basic structure and function
-
Mese, G.; Richard, G.; White, T.W. Gap junctions: basic structure and function. J. Invest. Dermatol, 2007, 127, 2516-2524.
-
(2007)
J. Invest. Dermatol
, vol.127
, pp. 2516-2524
-
-
Mese, G.1
Richard, G.2
White, T.W.3
-
8
-
-
0035226626
-
Connexin disorders of the skin
-
Richard, G. Connexin disorders of the skin. Adv. Dermatol, 2001, 17, 243-277.
-
(2001)
Adv. Dermatol
, vol.17
, pp. 243-277
-
-
Richard, G.1
-
9
-
-
0034961003
-
Trans-dominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation
-
Rouan, F.; White, T.W.; Brown, N.; Taylor, A.M.; Lucke, T.W.; Paul, D.L.; Munro, CS.; Uitto, J.; Hodgins, M.B.; Richard, G. Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J. Cell Sci., 2001, 114, 2105-2113.
-
(2001)
J. Cell Sci
, vol.114
, pp. 2105-2113
-
-
Rouan, F.1
White, T.W.2
Brown, N.3
Taylor, A.M.4
Lucke, T.W.5
Paul, D.L.6
Munro, C.S.7
Uitto, J.8
Hodgins, M.B.9
Richard, G.10
-
10
-
-
0036872742
-
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea
-
López-Bigas, N.; Arbonés, M.L.; Estivill, X.; Simonneau, L. Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea. Gene Expr. Patterns., 2002, 2, 113-117.
-
(2002)
Gene Expr. Patterns
, vol.2
, pp. 113-117
-
-
López-Bigas, N.1
Arbonés, M.L.2
Estivill, X.3
Simonneau, L.4
-
11
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
Denoyelle, F.; Weil, D.; Maw, M.A.; Wilcox, S.A.; Lench, N.J.; Allen-Powell, D.; Osborn, A.H.; Dahl, H.H.; Middleton, A.; Houseman, M.J.; Dodé, C; Marlin, S.; Boulila-ElGaïed, 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.; Garabédian, E.N.; Mueller, R.F.; McKinlay Gardner, R.J.; 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.6
Osborn, A.H.7
Dahl, H.H.8
Middleton, A.9
Houseman, M.J.10
Dodé, C.11
Marlin, S.12
Boulila-Elgaïed, 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
Garabédian, E.N.26
Mueller, R.F.27
McKinlay Gardner, R.J.28
Petit, C.29
more..
-
12
-
-
0031007349
-
Connexin 26 mutations in 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, IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature, 1997, 387, 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
-
13
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante, L.; Gasparini, P.; Estivill, X.; Melchionda, S.; D'Agruma, L.; Govea, N.; Milá, M.; Monica, M.D.; Lutfi, J.; Shohat, M.; Mansfield, E.; Del grosso, K.; Rappaport, E.; Surrey, S.; Fortina, P. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet., 1997, 6, 1605-1609.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Milá, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
del Grosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
-
14
-
-
79955018498
-
Vestibular dysfunction in DFNB1 deafness
-
Dodson, K.M.; Blanton, S.H.; Welch, K.O.; Norris, V.W.; Nuzzo, R.L.; Wegelin, J.A.; Marin, R.S.; Nance, W.E.; Panda, A.; Arnos, K.S. Vestibular dysfunction in DFNB1 deafness. Am. J. Med. Genet. A, 2011, 155A, 993-1000.
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, pp. 993-1000
-
-
Dodson, K.M.1
Blanton, S.H.2
Welch, K.O.3
Norris, V.W.4
Nuzzo, R.L.5
Wegelin, J.A.6
Marin, R.S.7
Nance, W.E.8
Panda, A.9
Arnos, K.S.10
-
15
-
-
0033648801
-
DFNA3
-
Denoyelle, F.; Weil, D.; Levilliers, J.; Petit, C. DFNA3. Adv. Otorhinolaryngol, 2000, 56, 78-83.
-
(2000)
Adv. Otorhinolaryngol
, vol.56
, pp. 78-83
-
-
Denoyelle, F.1
Weil, D.2
Levilliers, J.3
Petit, C.4
-
16
-
-
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
-
17
-
-
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
-
del Castillo, F.J.; Rodríguez-Ballesteros, M.; Alvarez, A.; Hutchin, T.; Leopardi, E.; de Oliveira, C.A.; Azaiez, H.; Brownstein, Z.; Avenarius, M.R.; Marlin, S.; Panda, A.; Shahin, H.; Siemering, K.R.; Weil, D.; Wuyts, W.; Aguirre, L.A.; Martín, Y.; Moreno-Pelayo, M.A.; Villamar, M.; Avraham, K.B.; Dahl, H.H.; Kanaan, M.; Nance, W.E.; Petit, C.; Smith, R.J.; Va n Camp, G.; Sartorato, E.L.; Murgia, A.; Moreno, F.; del Castillo, I. 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. J. Med. Genet., 2005, 42, 588-594.
-
(2005)
J. Med. Genet
, vol.42
, pp. 588-594
-
-
del Castillo, F.J.1
Rodríguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leopardi, E.5
de Oliveira, C.A.6
Azaiez, H.7
Brownstein, Z.8
Avenarius, M.R.9
Marlin, S.10
Panda, A.11
Shahin, H.12
Siemering, K.R.13
Weil, D.14
Wuyts, W.15
Aguirre, L.A.16
Martín, Y.17
Moreno-Pelayo, M.A.18
Villamar, M.19
Avraham, K.B.20
Dahl, H.H.21
Kanaan, M.22
Nance, W.E.23
Petit, C.24
Smith, R.J.25
van Camp, G.26
Sartorato, E.L.27
Murgia, A.28
Moreno, F.29
del Castillo, I.30
more..
-
18
-
-
0035991948
-
Gap junctions: Structure and function
-
Evans, W.H.; Martin, P.E. Gap junctions: structure and function. Mol. Membr. Biol., 2002, 19, 121-136.
-
(2002)
Mol. Membr. Biol
, vol.19
, pp. 121-136
-
-
Evans, W.H.1
Martin, P.E.2
-
19
-
-
0030013202
-
Connexins, connexons, and intercellular communication
-
Goodenough, D.A.; Goliger, J.A.; Paul, D.L. Connexins, connexons, and intercellular communication. Annu. Rev. Biochem., 1996, 65, 475-502.
-
(1996)
Annu. Rev. Biochem
, vol.65
, pp. 475-502
-
-
Goodenough, D.A.1
Goliger, J.A.2
Paul, D.L.3
-
20
-
-
77951911844
-
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss
-
Terrinoni, A.; Codispoti, A.; Serra, V.; Bruno, E.; Didona, B.; Paradisi, M.; Nisticò, S.; Campione, E.; Napoletano, B.; Diluvio, L.; Melino, G. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochem. Biophys. Res. Commun., 2010, 23, 25-30.
-
(2010)
Biochem. Biophys. Res. Commun
, vol.23
, pp. 25-30
-
-
Terrinoni, A.1
Codispoti, A.2
Serra, V.3
Bruno, E.4
Didona, B.5
Paradisi, M.6
Nisticò, S.7
Campione, E.8
Napoletano, B.9
Diluvio, L.10
Melino, G.11
-
21
-
-
0034108747
-
Gap junction systems in the mammalian cochlea
-
Kikuchi, T.; Rimura, R.S.; Paul, D.L.; Takasaka, T.; Adams, J.C. Gap junction systems in the mammalian cochlea. Brain Res. Rev., 2000, 32, 163-166.
-
(2000)
Brain Res. Rev
, vol.32
, pp. 163-166
-
-
Kikuchi, T.1
Rimura, R.S.2
Paul, D.L.3
Takasaka, T.4
Adams, J.C.5
-
22
-
-
12344304163
-
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness
-
Beltramello, M.; Piazza, V.; Bukauskas, F.F.; Pozzan, T.; Mammano, F. Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat. Cell. Biol., 2005, 7, 63-69.
-
(2005)
Nat. Cell. Biol
, vol.7
, pp. 63-69
-
-
Beltramello, M.1
Piazza, V.2
Bukauskas, F.F.3
Pozzan, T.4
Mammano, F.5
-
23
-
-
34247886163
-
Unitary permeability of gap junction channels to second messengers measured by FRET microscopy
-
Hernandez, V.H.; Bortolozzi, M.; Pertegato, V.; Beltramello, M.; Giarin, M.; Zoccolo, M.; Pantano, S.; Mammano, F. Unitary permeability of gap junction channels to second messengers measured by FRET microscopy. Nat. Methods., 2007, 4, 353-358.
-
(2007)
Nat. Methods
, vol.4
, pp. 353-358
-
-
Hernandez, V.H.1
Bortolozzi, M.2
Pertegato, V.3
Beltramello, M.4
Giarin, M.5
Zoccolo, M.6
Pantano, S.7
Mammano, F.8
-
24
-
-
0342572603
-
Mutations in GJB6 cause hidrotic ectodermal dysplasia
-
Lamartine, J.; Munhoz Essenfelder, G.; Kibar, Z.; Lanneluc, I.; Callouet, E.; Laoudj, D.; Lemaître, G.; Hand, C.; Hayflick, S.J.; Zonata, J.; Antonarakis, S.; Radhakrishna, U.; Kelsell, D.P.; Christianson, A.L.; Pitaval, A.; Der Kaloustian, V.; Fraser, C.; Blanchet-Bardon, C.; Rouleau, G.A.; Waksman, G. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat. Genet., 2000, 26, 142-144.
-
(2000)
Nat. Genet
, vol.26
, pp. 142-144
-
-
Lamartine, J.1
Munhoz Essenfelder, G.2
Kibar, Z.3
Lanneluc, I.4
Callouet, E.5
Laoudj, D.6
Lemaître, G.7
Hand, C.8
Hayflick, S.J.9
Zonata, J.10
Antonarakis, S.11
Radhakrishna, U.12
Kelsell, D.P.13
Christianson, A.L.14
Pitaval, A.15
der Kaloustian, V.16
Fraser, C.17
Blanchet-Bardon, C.18
Rouleau, G.A.19
Waksman, G.20
more..
-
25
-
-
0033760288
-
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
-
Macari, F.; Landau, M.; Cousin, P.; Mevorah, B.; Brenner, S.; Panizzon, R.; Schorderet, D.F.; Hohl, D.; Huber, M. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am. J. Hum. Genet., 2000, 67, 1296-1301.
-
(2000)
Am. J. Hum. Genet
, vol.67
, pp. 1296-1301
-
-
Macari, F.1
Landau, M.2
Cousin, P.3
Mevorah, B.4
Brenner, S.5
Panizzon, R.6
Schorderet, D.F.7
Hohl, D.8
Huber, M.9
-
26
-
-
0033024635
-
Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium
-
Lucke, T.; Choudhry, R.; Thom, R.; Selmer, I.S.; Burden, A.D.; Hodgins, M.B. Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium. J. Invest. Dermatol., 1999, 112, 354-361.
-
(1999)
J. Invest. Dermatol
, vol.112
, pp. 354-361
-
-
Lucke, T.1
Choudhry, R.2
Thom, R.3
Selmer, I.S.4
Burden, A.D.5
Hodgins, M.B.6
-
27
-
-
0027993625
-
Topography of mammalian connexins in human skin
-
Salomon, D.; Masgrau, E.; Vischer, S.; Ullrich, S.; Dupont, E.; Sappino, P.; Saurat, J.H.; Meda, P. Topography of mammalian connexins in human skin. J. Invest. Dermatol., 1994, 103, 240-247.
-
(1994)
J. Invest. Dermatol
, vol.103
, pp. 240-247
-
-
Salomon, D.1
Masgrau, E.2
Vischer, S.3
Ullrich, S.4
Dupont, E.5
Sappino, P.6
Saurat, J.H.7
Meda, P.8
-
28
-
-
77954655905
-
Overexpression of connexin26 in the basal keratinocytes reduces sensitivity to tumor promoter TPA
-
Wang, X.; Ramirez, A.; Budunova, I. Overexpression of connexin26 in the basal keratinocytes reduces sensitivity to tumor promoter TPA. Exp. Dermatol., 2010, 19, 633-640.
-
(2010)
Exp. Dermatol
, vol.19
, pp. 633-640
-
-
Wang, X.1
Ramirez, A.2
Budunova, I.3
-
29
-
-
0041884855
-
Altered connexin expression and wound healing in the epidermis of connexin-deficient mice
-
Kretz, M.; Euwens, C.; Hombach, S.; Eckardt, D.; Teubner, B., Traub, O.; Willecke, K.; Ott, T. J. Altered connexin expression and wound healing in the epidermis of connexin-deficient mice. Cell. Sci., 2003, 116, 3443-3452.
-
(2003)
Cell. Sci
, vol.116
, pp. 3443-3452
-
-
Kretz, M.1
Euwens, C.2
Hombach, S.3
Eckardt, D.4
Teubner, B.5
Traub, O.6
Willecke, K.7
Ott, T.J.8
-
30
-
-
0034099846
-
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
-
Heathcote, K.; Syrris, P.; Carter, N.D.; Patton, M.A. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J. Med. Genet., 2000, 37, 50-51.
-
(2000)
J. Med. Genet
, vol.37
, pp. 50-51
-
-
Heathcote, K.1
Syrris, P.2
Carter, N.D.3
Patton, M.A.4
-
31
-
-
63749102956
-
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
-
Iossa, S.; Chinetti, V.; Auletta, G.; Laria, C.; De Luca, M.; Rienzo, M.; Giannini, P.; Delfino, M.; Ciccodicola, A.; Marciano, E.; Franzé, A. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Am. J. Med. Genet. A., 2009, 149A, 685-688.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 685-688
-
-
Iossa, S.1
Chinetti, V.2
Auletta, G.3
Laria, C.4
de Luca, M.5
Rienzo, M.6
Giannini, P.7
Delfino, M.8
Ciccodicola, A.9
Marciano, E.10
Franzé, A.11
-
32
-
-
0035096676
-
Connexin mutations in skin disease and hearing loss
-
Kelsell, D.P.; Di, W.L.; Houseman, M.J. Connexin mutations in skin disease and hearing loss. Am. J. Hum Genet., 2001, 68, 559-568.
-
(2001)
Am. J. Hum Genet
, vol.68
, pp. 559-568
-
-
Kelsell, D.P.1
Di, W.L.2
Houseman, M.J.3
-
33
-
-
0036821529
-
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
-
Uyguner, O.; Tukel, T., Baykal, C.; Eris, H.; Emiroglu, M.; Hafiz, G.; Ghanbari, A., Baserei, N.; Yuksel-Apak, M.; Wollnik, B. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin. Genet., 2002, 62, 306-309.
-
(2002)
Clin. Genet
, vol.62
, pp. 306-309
-
-
Uyguner, O.1
Tukel, T.2
Baykal, C.3
Eris, H.4
Emiroglu, M.5
Hafiz, G.6
Ghanbari, A.7
Baserei, N.8
Yuksel-Apak, M.9
Wollnik, B.10
-
34
-
-
38749094820
-
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
-
Jonard, L.; Feldmann, D.; Parsy, C.; Freitag, S.; Sinico, M.; Koval, C.; Grati, M.; Couderc, R.; Denoyelle, F.; Bodemer, C.; Marlin, S.; Hadj-Rabia, S. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur. J. Med. Genet., 2008, 51, 35-43.
-
(2008)
Eur. J. Med. Genet
, vol.51
, pp. 35-43
-
-
Jonard, L.1
Feldmann, D.2
Parsy, C.3
Freitag, S.4
Sinico, M.5
Koval, C.6
Grati, M.7
Couderc, R.8
Denoyelle, F.9
Bodemer, C.10
Marlin, S.11
Hadj-Rabia, S.12
-
35
-
-
84943429907
-
Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas
-
Grob, J.J.; Breton, A.; Bonafe, J.L.; Sauvan-Ferdani, M.; Bonerandi, J.J. Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. Arch. Dermatol., 1987, 123, 777-782.
-
(1987)
Arch. Dermatol
, vol.123
, pp. 777-782
-
-
Grob, J.J.1
Breton, A.2
Bonafe, J.L.3
Sauvan-Ferdani, M.4
Bonerandi, J.J.5
-
36
-
-
34247101906
-
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma
-
Conrado, L.A.; Marques, S.A.; La storia, J.C.; Cucé, L.C.; Marques, M.E.; Dillon, N.L. Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. Int. J. Dermatol., 2007, 46, 403-406.
-
(2007)
Int. J. Dermatol
, vol.46
, pp. 403-406
-
-
Conrado, L.A.1
Marques, S.A.2
la Storia, J.C.3
Cucé, L.C.4
Marques, M.E.5
Dillon, N.L.6
-
37
-
-
14044263546
-
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
-
Janecke, A.R.; Hennies, H.C.; Günther, B.; Gansl, G.; Smolle, J.; Messmer, E.M.; Utermann, G.; Rittinger, O. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am. J. Med. Genet. A., 2005, 133A, 128-131.
-
(2005)
Am. J. Med. Genet. A
, vol.133 A
, pp. 128-131
-
-
Janecke, A.R.1
Hennies, H.C.2
Günther, B.3
Gansl, G.4
Smolle, J.5
Messmer, E.M.6
Utermann, G.7
Rittinger, O.8
-
38
-
-
0036063922
-
HID and KID syndromes are associated with the same connexin 26 mutation
-
van Geel, M.; van Steensel, M.A.; Küster, W.; Hennies, H.C.; Happle, R.; Steijlen, P.M.; König, A. HID and KID syndromes are associated with the same connexin 26 mutation. Br. J. Dermatol., 2002, 146, 938-942.
-
(2002)
Br. J. Dermatol
, vol.146
, pp. 938-942
-
-
van Geel, M.1
van Steensel, M.A.2
Küster, W.3
Hennies, H.C.4
Happle, R.5
Steijlen, P.M.6
König, A.7
-
39
-
-
0033020064
-
The palmoplantar keratodermas: Much more than palms and soles
-
Kelsell, D.P.; Stevens, H.P. The palmoplantar keratodermas: much more than palms and soles. Mol. Med. Today, 1999, 5, 107-113.
-
(1999)
Mol. Med. Today
, vol.5
, pp. 107-113
-
-
Kelsell, D.P.1
Stevens, H.P.2
-
40
-
-
0028933496
-
Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism
-
Peris, K.; Salvati, E.F.; Torlone, G.; Chimenti, S. Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. B r. J. Dermatol., 1995, 132, 617-620.
-
(1995)
B R. J. Dermatol
, vol.132
, pp. 617-620
-
-
Peris, K.1
Salvati, E.F.2
Torlone, G.3
Chimenti, S.4
-
41
-
-
0035116593
-
Vohwinkel's syndrome in three generations
-
Solis, R.R.; Diven, DG.; Trina, Z. Vohwinkel's syndrome in three generations. J. Am. Acad. Dermatol., 2001, 44, 376-378.
-
(2001)
J. Am. Acad. Dermatol
, vol.44
, pp. 376-378
-
-
Solis, R.R.1
Diven, D.G.2
Trina, Z.3
-
42
-
-
6344225698
-
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
-
Richard, G.; Brown, N.; Ishida-Yamamoto, A.; Krol, A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J. Invest. Dermatol., 2004, 123, 856-863.
-
(2004)
J. Invest. Dermatol
, vol.123
, pp. 856-863
-
-
Richard, G.1
Brown, N.2
Ishida-Yamamoto, A.3
Krol, A.4
-
43
-
-
0014217629
-
Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome
-
Bart, R.S.; Pumphrey, R.E. Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. N. Engl. J. Med., 1967, 276, 202-207.
-
(1967)
N. Engl. J. Med
, vol.276
, pp. 202-207
-
-
Bart, R.S.1
Pumphrey, R.E.2
-
44
-
-
0028058126
-
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: An additional family with Bart-Pumphrey syndrome
-
Ramer, J.C.; Vasily, D.B.; Ladda, R.L. Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J. Med. Genet., 1994, 31, 68-71.
-
(1994)
J. Med. Genet
, vol.31
, pp. 68-71
-
-
Ramer, J.C.1
Vasily, D.B.2
Ladda, R.L.3
-
45
-
-
0242684552
-
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
-
Marziano, N.K.; Casalotti, S.O.; Portelli, A.E.; Becker, D.L.; Forge, A. Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum. Mol. Genet., 2003, 12, 805-812.
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 805-812
-
-
Marziano, N.K.1
Casalotti, S.O.2
Portelli, A.E.3
Becker, D.L.4
Forge, A.5
-
46
-
-
2442502595
-
Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations
-
Thomas, T.; Telford, D.; Laird, D.W. Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations. J. Biol. Chem., 2004, 279, 19157-19168.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 19157-19168
-
-
Thomas, T.1
Telford, D.2
Laird, D.W.3
-
47
-
-
24644458117
-
Mechanism of the defect in gap-junctional communication by expression of a connexin 26 mutant associated with dominant deafness
-
Chen, Y.; Deng Y.; Bao, X.; Reuss, L.; Altenberg, G.A. Mechanism of the defect in gap-junctional communication by expression of a connexin 26 mutant associated with dominant deafness. F A S E B J., 2005, 19, 1516-1518.
-
(2005)
F a S E B J
, vol.19
, pp. 1516-1518
-
-
Chen, Y.1
Deng, Y.2
Bao, X.3
Reuss, L.4
Altenberg, G.A.5
-
48
-
-
22244480037
-
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss
-
Piazza, V.; Beltramello, M.; Mentiti, M.; Colao, E.; Malatesta, P.; Argento, R.; Chiarella, G.; Gallo, L.V.; Catalano, M.; Perrotti, N.; Mammano, F.; Cassandro, E. Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. Clin. Genet., 2005, 68, 161-166.
-
(2005)
Clin. Genet
, vol.68
, pp. 161-166
-
-
Piazza, V.1
Beltramello, M.2
Mentiti, M.3
Colao, E.4
Malatesta, P.5
Argento, R.6
Chiarella, G.7
Gallo, L.V.8
Catalano, M.9
Perrotti, N.10
Mammano, F.11
Cassandro, E.12
-
49
-
-
40649114013
-
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
-
de Zwart-Storm, E.A.; Hamm, H.; Stoevesandt, J.; Steijlen, P.M.; Martin, P.E.; van Geel, M.; van Steensel, M.A. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J. Med. Genet., 2008, 45, 161-166.
-
(2008)
J. Med. Genet
, vol.45
, pp. 161-166
-
-
de Zwart-Storm, E.A.1
Hamm, H.2
Stoevesandt, J.3
Steijlen, P.M.4
Martin, P.E.5
van Geel, M.6
van Steensel, M.A.7
-
50
-
-
62849103884
-
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
-
Mani, R.S.; Ganapathy, A.; Jalvi, R.; Srikumari Srisailapathy, C.R.; Malhotra, V.; Chadha, S.; Agarwal, A.; Ramesh, A.; Rangasayee, R.R.; Anand A. Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. Eur. J. Hum. Genet., 2009, 17, 502-509.
-
(2009)
Eur. J. Hum. Genet
, vol.17
, pp. 502-509
-
-
Mani, R.S.1
Ganapathy, A.2
Jalvi, R.3
Srikumari Srisailapathy, C.R.4
Malhotra, V.5
Chadha, S.6
Agarwal, A.7
Ramesh, A.8
Rangasayee, R.R.9
Anand, A.10
-
51
-
-
79955977354
-
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26
-
Zhang, J.; Scherer, S.S.; Yum, S.W. Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. Mol. Cell. Neurosci., 2011, 47, 71-78.
-
(2011)
Mol. Cell. Neurosci
, vol.47
, pp. 71-78
-
-
Zhang, J.1
Scherer, S.S.2
Yum, S.W.3
-
52
-
-
17044396386
-
Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30
-
Essenfelder, G.M.; Larderet, G.; Waksman, G.; Lamartine J. Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30. Gene, 2005, 350, 33-40.
-
(2005)
Gene
, vol.350
, pp. 33-40
-
-
Essenfelder, G.M.1
Larderet, G.2
Waksman, G.3
Lamartine, J.4
-
53
-
-
0033600946
-
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
-
Cohn, E.S.; Kelley, P.M. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am. J. Med. Genet., 1999, 89, 130-136.
-
(1999)
Am. J. Med. Genet
, vol.89
, pp. 130-136
-
-
Cohn, E.S.1
Kelley, P.M.2
-
54
-
-
24344472519
-
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness
-
Feldmann, D.; Denoyelle, F., Blons, H.; Lyonnet, S.; Loundon, N.; Rouillon, I.; Hadj-Rabia, S.; Petit, C.; Couderc, R; Garabédian, E.N.; Marlin, S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am. J. Med. Genet. A, 2005, 137, 225-227.
-
(2005)
Am. J. Med. Genet. A
, vol.137
, pp. 225-227
-
-
Feldmann, D.1
Denoyelle, F.2
Blons, H.3
Lyonnet, S.4
Loundon, N.5
Rouillon, I.6
Hadj-Rabia, S.7
Petit, C.8
Couderc, R.9
Garabédian, E.N.10
Marlin, S.11
-
55
-
-
77954097184
-
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
-
Birkenhäger, R.; Lüblinghoff, N.; Prera, E.; Schild, C.; Aschendorff, A.; Arndt, S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. Am. J. Med. Genet. A., 2010, 152A, 1798-1802.
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 1798-1802
-
-
Birkenhäger, R.1
Lüblinghoff, N.2
Prera, E.3
Schild, C.4
Aschendorff, A.5
Arndt, S.6
-
56
-
-
79953057226
-
The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients
-
Yoshikawa, S.; Kawano, A.; Hayashi, C.; Nishiyama, N., Kawaguchi, S.; Furuse, H.; Ikeda, K.; Suzuki, M., Nakagawa, M. The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients. Auris Nasus Larynx., 2011, 38, 444-449.
-
(2011)
Auris Nasus Larynx
, vol.38
, pp. 444-449
-
-
Yoshikawa, S.1
Kawano, A.2
Hayashi, C.3
Nishiyama, N.4
Kawaguchi, S.5
Furuse, H.6
Ikeda, K.7
Suzuki, M.8
Nakagawa, M.9
-
57
-
-
33646126660
-
Mutation analysis of the GJB2 (connexin 26) gene in Egypt
-
Snoeckx, R.L.; Hassan, D.M.; Kamal, N.M.; Van Den Bogaert, K., Van Camp G. Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum. Mutat., 2005, 26, 60-61.
-
(2005)
Hum. Mutat
, vol.26
, pp. 60-61
-
-
Snoeckx, R.L.1
Hassan, D.M.2
Kamal, N.M.3
van den Bogaert, K.4
van Camp, G.5
-
58
-
-
4444379731
-
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
-
Munhoz Essenfelder, G.; Buzzone, R.; Lamartine, J.; Charollais, A.; Blanchet-Bardon, C.; Barbe, M.T.; Meda, P.; Waksman, G. Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. Hum. Mol. Genet., 2004, 13, 1703-1714.
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 1703-1714
-
-
Munhoz Essenfelder, G.1
Buzzone, R.2
Lamartine, J.3
Charollais, A.4
Blanchet-Bardon, C.5
Barbe, M.T.6
Meda, P.7
Waksman, G.8
-
59
-
-
63149198803
-
Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus Oocytes
-
Lee, J.R.; De Rosa, A.M.; White, T.W. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus Oocytes. J. Invest. Dermatol., 2009, 129, 870-878.
-
(2009)
J. Invest. Dermatol
, vol.129
, pp. 870-878
-
-
Lee, J.R.1
de Rosa, A.M.2
White, T.W.3
-
60
-
-
29944438881
-
Thompson CB Necrotic death as a cell fate
-
Zong, W.X. Thompson CB Necrotic death as a cell fate. Genes Dev., 2006, 20, 1-15.
-
(2006)
Genes Dev
, vol.20
, pp. 1-15
-
-
Zong, W.X.1
-
61
-
-
79954569815
-
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
-
de Zwart-Storm, E.A.; Rosa, R.F.; Martin, P.E.; Foelster-Holst, R.; Frank, J.; Bau, A.E.; Zen, P.R.; Graziadio, C., Paskulin, G.A.; Kamps, M.A.; van Geel, M.; van Steensel, M.A. Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Exp. Dermatol., 2011, 20, 408-412.
-
(2011)
Exp. Dermatol
, vol.20
, pp. 408-412
-
-
de Zwart-Storm, E.A.1
Rosa, R.F.2
Martin, P.E.3
Foelster-Holst, R.4
Frank, J.5
Bau, A.E.6
Zen, P.R.7
Graziadio, C.8
Paskulin, G.A.9
Kamps, M.A.10
van Geel, M.11
van Steensel, M.A.12
-
62
-
-
0346496112
-
The effects of a mutant connexin 26 on epidermal differentiation
-
Bakirtzis, G.; Jamieson, S.; Aasen, T.; Bryson, S.; Forrow, S.; Tetley, L.; Finbow, M., Greenhalgh, D.; Hodgins, M. The effects of a mutant connexin 26 on epidermal differentiation. Cell. Commun. Adhes., 2003, 10, 359-364.
-
(2003)
Cell. Commun. Adhes
, vol.10
, pp. 359-364
-
-
Bakirtzis, G.1
Jamieson, S.2
Aasen, T.3
Bryson, S.4
Forrow, S.5
Tetley, L.6
Finbow, M.7
Greenhalgh, D.8
Hodgins, M.9
-
63
-
-
0031722150
-
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar 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 palmoplantar keratoderma. Hum. Genet., 1998, 103, 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
-
64
-
-
0037449718
-
Roles of Met-34, Cys-64, Arg-75 in the assembly of human connexin 26
-
Oshima, A., Doi, T.; Mitsuoka, K.; Maeda, S.; Fujiyoshi, Y. Roles of Met-34, Cys-64, Arg-75 in the assembly of human connexin 26. J. Biol. Chem., 2003, 278, 1807-1816.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 1807-1816
-
-
Oshima, A.1
Doi, T.2
Mitsuoka, K.3
Maeda, S.4
Fujiyoshi, Y.5
-
65
-
-
13544249603
-
Connexin disorders of the skin
-
Richard, G. Connexin disorders of the skin. Clin. Dermatol., 2005, 23, 23-32.
-
(2005)
Clin. Dermatol
, vol.23
, pp. 23-32
-
-
Richard, G.1
-
66
-
-
4444379731
-
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
-
Essenfelder, M.G.; Buzzone, R.; Lamartine, J.; Charollais, A.; Blanchet-Bardon, C.; Barbe, M.T.; Meda, P.; Waksman, G. Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. Hum. Mol. Genet., 2004, 13, 1703-1714.
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 1703-1714
-
-
Essenfelder, M.G.1
Buzzone, R.2
Lamartine, J.3
Charollais, A.4
Blanchet-Bardon, C.5
Barbe, M.T.6
Meda, P.7
Waksman, G.8
-
67
-
-
63749121362
-
The missense mutation G12D in Connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron
-
van Steensel, M.A.; Oranje, A.P.; van der Schroeff J.G.; Wagner, A.; van Geel M. The missense mutation G12D in Connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am. J. Med. Genet. A, 2009, 149A, 657-661.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 657-661
-
-
van Steensel, M.A.1
Oranje, A.P.2
van der Schroeff, J.G.3
Wagner, A.4
van Geel, M.5
-
68
-
-
70450181221
-
EKV mutant connexin 31 associated cell death is mediated by ER stress
-
Tattersall, D.; Scott, C.A.; Gray, C.; Zicha, D.; Kelsell, D.P. EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum. Mol. Genet., 2009, 18, 4734-4745.
-
(2009)
Hum. Mol. Genet
, vol.18
, pp. 4734-4745
-
-
Tattersall, D.1
Scott, C.A.2
Gray, C.3
Zicha, D.4
Kelsell, D.P.5
-
69
-
-
0032715472
-
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness
-
Martin, P.E.; Coleman, S.L.; Casalotti, S.O.; Forge, A.; Evans, W.H. Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum. Mol. Genet., 1999, 8, 2369-2376.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 2369-2376
-
-
Martin, P.E.1
Coleman, S.L.2
Casalotti, S.O.3
Forge, A.4
Evans, W.H.5
-
70
-
-
0347756811
-
The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30
-
Forge, A.; Marziano, N.K.; Casalotti, S.O., Becker, D.L.; Jagger, D. The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30. Cell. Commun. Adhes., 2003, 10, 341-346.
-
(2003)
Cell. Commun. Adhes
, vol.10
, pp. 341-346
-
-
Forge, A.1
Marziano, N.K.2
Casalotti, S.O.3
Becker, D.L.4
Jagger, D.5
-
71
-
-
79956366723
-
The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome
-
Schütz, M.; Auth, T.; Gehrt, A.; Bosen, F.; Körber, I.; Strenzke, N.; Moser, T.; Willecke, K. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum. Mol. Genet., 2011, 20, 28-39.
-
(2011)
Hum. Mol. Genet
, vol.20
, pp. 28-39
-
-
Schütz, M.1
Auth, T.2
Gehrt, A.3
Bosen, F.4
Körber, I.5
Strenzke, N.6
Moser, T.7
Willecke, K.8
-
72
-
-
76349101147
-
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations
-
Serrano Castro, P.J.; Naranjo Fernandez, C.; Quiroga Subirana, P.; Payan Ortiz, M. Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. Seizure, 2010, 19, 129-131.
-
(2010)
Seizure
, vol.19
, pp. 129-131
-
-
Serrano Castro, P.J.1
Naranjo Fernandez, C.2
Quiroga Subirana, P.3
Payan Ortiz, M.4
-
73
-
-
70349503827
-
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome
-
Neoh, C.Y.; Chen, H.; Ng, S.K.; Lane, E.B; Common, J.E. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. Int. J. Dermatol., 2009, 48, 1078-1081.
-
(2009)
Int. J. Dermatol
, vol.48
, pp. 1078-1081
-
-
Neoh, C.Y.1
Chen, H.2
Ng, S.K.3
Lane, E.B.4
Common, J.E.5
-
74
-
-
28244474837
-
Further delineation of the hypotrichosis-deafness syndrome
-
Van Steensel MA, Van Geel M, Steijlen PM. Further delineation of the hypotrichosis-deafness syndrome. Eur. J. Dermatol., 2005, 15, 437-438.
-
(2005)
Eur. J. Dermatol
, vol.15
, pp. 437-438
-
-
van Steensel, M.A.1
van Geel, M.2
Steijlen, P.M.3
-
75
-
-
33746588200
-
A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: Analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26
-
Arita, K.; Akiyama, M.; Aizawa, T.; Umetsu, Y., Segawa, I.; Goto, M.; Sawamura, D.; Depura, M.; Kawano, K.; Shimizu, H. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am. J. Pathol., 2006, 169, 416-423.
-
(2006)
Am. J. Pathol
, vol.169
, pp. 416-423
-
-
Arita, K.1
Akiyama, M.2
Aizawa, T.3
Umetsu, Y.4
Segawa, I.5
Goto, M.6
Sawamura, D.7
Depura, M.8
Kawano, K.9
Shimizu, H.10
-
76
-
-
34247342194
-
Keratitis-ichthyosis-deafness syndrome: Disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
-
Mazereeuw-Hautier, J.; Bitoun, E.; Chevrant-Breton, J.; Man, S.Y.; Bodemer, C.; Prins, C.; Antille, C.; Saurat, J.H.; Atherton, D.; Harper, J.I.; Kelsell, D.P.; Hovnanian, A. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. B r. J. Dermatol., 2007, 156, 1015-1019.
-
(2007)
B R. J. Dermatol
, vol.156
, pp. 1015-1019
-
-
Mazereeuw-Hautier, J.1
Bitoun, E.2
Chevrant-Breton, J.3
Man, S.Y.4
Bodemer, C.5
Prins, C.6
Antille, C.7
Saurat, J.H.8
Atherton, D.9
Harper, J.I.10
Kelsell, D.P.11
Hovnanian, A.12
-
77
-
-
49349100427
-
Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome
-
De Raeve, L.; Bonduelle, M.; Deconinck, H.; Roseeuw, D.; Stene, J.J. Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome. Pediatr. Dermatol., 2008, 25, 466-469.
-
(2008)
Pediatr. Dermatol
, vol.25
, pp. 466-469
-
-
de Raeve, L.1
Bonduelle, M.2
Deconinck, H.3
Roseeuw, D.4
Stene, J.J.5
-
78
-
-
77649106181
-
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: Implication for cochlear implantation
-
Arndt, S.; Aschendorff, A.; Schild, C.; Beck, R.; Maier, W.; Laszig, R.; Birkenhäger, R. A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. Otol. Neurotol., 2010, 31, 210-215.
-
(2010)
Otol. Neurotol
, vol.31
, pp. 210-215
-
-
Arndt, S.1
Aschendorff, A.2
Schild, C.3
Beck, R.4
Maier, W.5
Laszig, R.6
Birkenhäger, R.7
-
79
-
-
4444341882
-
A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
-
Montgomery, J.R.; White, T.W.; Martin, B.L.; Turner, M.L.; Holland, S.M. A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-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
-
80
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
-
Fuse, Y.; Doi, K.; Hasegawa, T.; Sugii, A.; Hibino, H.; Kubo, T. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport., 1999, 10, 1853-1857.
-
(1999)
Neuroreport
, vol.10
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
Sugii, A.4
Hibino, H.5
Kubo, T.6
-
81
-
-
33746817088
-
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome
-
Griffith, A.J.; Yang, Y.; Pryor, S.P.; Park, H.J.; Jabs, E.W.; Nadol, J.B. Jr.; Russell, L.J.; Wasserman, D.I.; Richard, G.; Adams, J.C.; Merchant, S.N. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope, 2006, 116, 1404-1408.
-
(2006)
Laryngoscope
, vol.116
, pp. 1404-1408
-
-
Griffith, A.J.1
Yang, Y.2
Pryor, S.P.3
Park, H.J.4
Jabs, E.W.5
Nadol, J.B.6
Russell, L.J.7
Wasserman, D.I.8
Richard, G.9
Adams, J.C.10
Merchant, S.N.11
-
82
-
-
0036063922
-
HID and KID syndromes are associated with the same connexin 26 mutation
-
van Geel, M.; van Steensel, M.A.; Küster, W.; Hennies, H.C.; Happle, R.; Steijlen, P.M.; König, A.HID and KID syndromes are associated with the same connexin 26 mutation. Br. J. Dermatol., 2002, 146, 938-942.
-
(2002)
Br. J. Dermatol
, vol.146
, pp. 938-942
-
-
van Geel, M.1
van Steensel, M.A.2
Küster, W.3
Hennies, H.C.4
Happle, R.5
Steijlen, P.M.6
König, A.7
-
83
-
-
42449119310
-
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss
-
Kelly, B.; Lozano, A.; Altenberg, G.; Makishima, T. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. Int. J. Dermatol., 2008, 47, 443-447.
-
(2008)
Int. J. Dermatol
, vol.47
, pp. 443-447
-
-
Kelly, B.1
Lozano, A.2
Altenberg, G.3
Makishima, T.4
-
84
-
-
25144501533
-
Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad
-
Maintz, L.; Betz, R.C.; Allam, J.P.; Wenzel, J.; Jaksche, A.; Friedrichs, N.; Bieber, T.; Novak, N. Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. Eur. J. Dermatol., 2005, 15, 347-352.
-
(2005)
Eur. J. Dermatol
, vol.15
, pp. 347-352
-
-
Maintz, L.1
Betz, R.C.2
Allam, J.P.3
Wenzel, J.4
Jaksche, A.5
Friedrichs, N.6
Bieber, T.7
Novak, N.8
-
85
-
-
0037565175
-
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
-
Yotsumoto, S.; Hashiguchi, T.; Chen, X.; Ohtake, N.; Tomitaka, A.; Akamatsu, H.; Matsunaga, K.; Shiraishi, S.; Miura, H.; Adachi, J.; Kanzaki, T. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. B r. J. Dermatol., 2003, 148, 649-653.
-
(2003)
B R. J. Dermatol
, vol.148
, pp. 649-653
-
-
Yotsumoto, S.1
Hashiguchi, T.2
Chen, X.3
Ohtake, N.4
Tomitaka, A.5
Akamatsu, H.6
Matsunaga, K.7
Shiraishi, S.8
Miura, H.9
Adachi, J.10
Kanzaki, T.11
-
86
-
-
34248525608
-
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads
-
Akiyama, M.; Sakai, K.; Arita, K.; Nomura, Y.; Ito, K.; Kodama, K.; McMillan, J.R.; Kobayashi, K.; Sawamura, D.; Shimizu, H. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. J. Invest. Dermatol., 2007, 127, 1540-1543.
-
(2007)
J. Invest. Dermatol
, vol.127
, pp. 1540-1543
-
-
Akiyama, M.1
Sakai, K.2
Arita, K.3
Nomura, Y.4
Ito, K.5
Kodama, K.6
McMillan, J.R.7
Kobayashi, K.8
Sawamura, D.9
Shimizu, H.10
-
87
-
-
33644874120
-
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation
-
Leonard, N.J.; Krol, A.L.; Bleoo, S.; Somerville, M.J. Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. J. Med. Genet. 2005, 42:e2.
-
(2005)
J. Med. Genet
, vol.42
-
-
Leonard, N.J.1
Krol, A.L.2
Bleoo, S.3
Somerville, M.J.4
-
88
-
-
22044444273
-
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome
-
Alexandrino, F.; Sartorato, E.L.; Marques-de-Faria, A.P.; Steiner, C.E. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am. J. Med. Genet. A., 2005, 136, 282-284.
-
(2005)
Am. J. Med. Genet. A
, vol.136
, pp. 282-284
-
-
Alexandrino, F.1
Sartorato, E.L.2
Marques-de-Faria, A.P.3
Steiner, C.E.4
-
89
-
-
33845683026
-
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin
-
Bondeson, M.L.; Nyström, A.M.; Gunnarsson, U.; Vahlquist, A. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. Acta Derm. Ve n e re o l., 2006, 86, 503-508.
-
(2006)
Acta Derm. Ve N E Re O L
, vol.86
, pp. 503-508
-
-
Bondeson, M.L.1
Nyström, A.M.2
Gunnarsson, U.3
Vahlquist, A.4
-
90
-
-
78650433173
-
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome
-
de Zwart-Storm, E.A.; van Geel, M.; Veysey, E.; Burge, S.; Cooper, S.; Steijlen, P.M.; Martin, P.E.; van Steensel, M.A. A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. Br. J. Dermatol., 2011, 164, 197-199.
-
(2011)
Br. J. Dermatol
, vol.164
, pp. 197-199
-
-
de Zwart-Storm, E.A.1
van Geel, M.2
Veysey, E.3
Burge, S.4
Cooper, S.5
Steijlen, P.M.6
Martin, P.E.7
van Steensel, M.A.8
-
91
-
-
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.; Ocaña-Sierra, J.; Calzolari, E.; Cambiaghi, 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., 1999, 8, 1237-1243.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 1237-1243
-
-
Maestrini, E.1
Korge, B.P.2
Ocaña-Sierra, J.3
Calzolari, E.4
Cambiaghi, S.5
Scudder, P.M.6
Hovnanian, A.7
Monaco, A.P.8
Munro, C.S.9
-
92
-
-
63749108032
-
A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma
-
Yuan, Y.; Huang, D.; Yu, F.; Zhu, X.; Kang, D.; Yuan, H.; Han, D.; Dai, P. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma. Am. J. Med. Genet. A., 2009, 149A, 689-692.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 689-692
-
-
Yuan, Y.1
Huang, D.2
Yu, F.3
Zhu, X.4
Kang, D.5
Yuan, H.6
Han, D.7
Dai, P.8
-
93
-
-
78449298180
-
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26
-
Lee, J.Y.; In, S.I.; Kim, H.J.; Jeong, S.Y.; Choung, Y.H.; Kim, Y.C. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J. Korean Med. Sci., 2010, 25, 1539-1542.
-
(2010)
J. Korean Med. Sci
, vol.25
, pp. 1539-1542
-
-
Lee, J.Y.1
In, S.I.2
Kim, H.J.3
Jeong, S.Y.4
Choung, Y.H.5
Kim, Y.C.6
-
94
-
-
79951604335
-
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome
-
Koppelhus, U.; Tranebjaerg, L.; Esberg, G.; Ramsing, M.; Lodahl, M.; Rendtorff, N.D.; Olesen, H.V.; Sommerlund, M. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin. Exp. Dermatol., 2011, 36, 142-148.
-
(2011)
Clin. Exp. Dermatol
, vol.36
, pp. 142-148
-
-
Koppelhus, U.1
Tranebjaerg, L.2
Esberg, G.3
Ramsing, M.4
Lodahl, M.5
Rendtorff, N.D.6
Olesen, H.V.7
Sommerlund, M.8
-
95
-
-
10744220912
-
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness
-
Brown, C.W.; Levy, M.L.; Flaitz, C.M.; Reid, B.S.; Manolidis, S.; Hebert, A.A.; Bender, M.M.; Heilstedt, H.A.; Plunkett, K.S.; Fang, P.; Roa, B.B.; Chung, P.; Tang, H.Y.; Richard, G.; Alford, R.L. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness. J. Invest. Dermatol., 2003, 121, 1221-1223.
-
(2003)
J. Invest. Dermatol
, vol.121
, pp. 1221-1223
-
-
Brown, C.W.1
Levy, M.L.2
Flaitz, C.M.3
Reid, B.S.4
Manolidis, S.5
Hebert, A.A.6
Bender, M.M.7
Heilstedt, H.A.8
Plunkett, K.S.9
Fang, P.10
Roa, B.B.11
Chung, P.12
Tang, H.Y.13
Richard, G.14
Alford, R.L.15
-
96
-
-
34250807258
-
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness
-
Gerido, D.A.; DeRosa, A.M.; Richard, G.; White, T.W. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am. J. Physiol. Cell. Physiol., 2007, 293, C337-345.
-
(2007)
Am. J. Physiol. Cell. Physiol
, vol.293
, pp. 337-345
-
-
Gerido, D.A.1
Derosa, A.M.2
Richard, G.3
White, T.W.4
-
97
-
-
77954320871
-
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome
-
Sánchez, H.A.; Mese, G.; Srinivas, M.; White, T.W.; Verselis, V.K. Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. J. Gen. Physiol., 2010, 136, 47-62.
-
(2010)
J. Gen. Physiol
, vol.136
, pp. 47-62
-
-
Sánchez, H.A.1
Mese, G.2
Srinivas, M.3
White, T.W.4
Verselis, V.K.5
-
98
-
-
0346496110
-
Transport and function of cx26 mutants involved in skin and deafness disorders
-
Thomas, T.; Aasen, T.; Hodgins, M.; Laird, D.W. Transport and function of cx26 mutants involved in skin and deafness disorders. Cell Commun. Adhes., 2003, 10, 353-358.
-
(2003)
Cell Commun. Adhes
, vol.10
, pp. 353-358
-
-
Thomas, T.1
Aasen, T.2
Hodgins, M.3
Laird, D.W.4
-
99
-
-
77951204908
-
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
-
Yum, S.W.; Zhang, J.; Scherer, S.S. Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. Neurobiol. Dis., 2010, 38, 226-236.
-
(2010)
Neurobiol. Dis
, vol.38
, pp. 226-236
-
-
Yum, S.W.1
Zhang, J.2
Scherer, S.S.3
-
100
-
-
2442502595
-
Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations
-
Thomas, T.; Telford, D.; Laird, D.W. Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations. J. Biol. Chem., 2004, 279, 19157-19168.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 19157-19168
-
-
Thomas, T.1
Telford, D.2
Laird, D.W.3
|