-
1
-
-
17844391033
-
Patterns of connexin interactions in keratinocytes revealed morphologically and by FRET analysis
-
Di WL, Gu Y, Common JEA, Aasen T, O'Toole EA, Kelsell DP, Zicha D: Patterns of connexin interactions in keratinocytes revealed morphologically and by FRET analysis. J Cell Science 118:1505-1514, 2005
-
(2005)
J Cell Science
, vol.118
, pp. 1505-1514
-
-
Di, W.L.1
Gu, Y.2
Common, J.E.A.3
Aasen, T.4
O'Toole, E.A.5
Kelsell, D.P.6
Zicha, D.7
-
2
-
-
0037101843
-
Defective trafficking and cell death is characteristic of skin disease- associated connexin 31 mutations
-
Di WL, Monypenny J, Common JE, et al: Defective trafficking and cell death is characteristic of skin disease- associated connexin 31 mutations. Hum Mol Genet 11:2005-2014, 2002
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2005-2014
-
-
Di, W.L.1
Monypenny, J.2
Common, J.E.3
-
3
-
-
0036382811
-
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
-
Diestel S, Richard G, Doring B, Traub O: Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem Biophys Res Commun 296:721-728, 2002
-
(2002)
Biochem Biophys Res Commun
, vol.296
, pp. 721-728
-
-
Diestel, S.1
Richard, G.2
Doring, B.3
Traub, O.4
-
4
-
-
0037093306
-
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
-
Gottfried I, Landau M, Glaser F, et al: A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mo Genet 11:1311-1316, 2002
-
(2002)
Hum Mo Genet
, vol.11
, pp. 1311-1316
-
-
Gottfried, I.1
Landau, M.2
Glaser, F.3
-
5
-
-
6344239432
-
Congential angelegte symmetrische progressive erythrokeratodermie
-
Gottron HA: Congential angelegte symmetrische progressive erythrokeratodermie. Zentbl Haut-Geschl Krankh 4:493-494, 1922
-
(1922)
Zentbl Haut-Geschl Krankh
, vol.4
, pp. 493-494
-
-
Gottron, H.A.1
-
6
-
-
0030601309
-
Regulation of connexin31 gene expression upon retinoic acid treatment in rat choriocarcinoma cells
-
Grummer R, Hellmann P, Traub O, Soares MJ, el-Sabban ME, Winterhager E: Regulation of connexin31 gene expression upon retinoic acid treatment in rat choriocarcinoma cells. Exp Cell Res 227:23-32, 1996
-
(1996)
Exp Cell Res
, vol.227
, pp. 23-32
-
-
Grummer, R.1
Hellmann, P.2
Traub, O.3
Soares, M.J.4
El-Sabban, M.E.5
Winterhager, E.6
-
7
-
-
0034519521
-
Towards a better classification of erythrokeratodermias
-
Hohl D: Towards a better classification of erythrokeratodermias. Br J Dermatol 143:1133-1137, 2000
-
(2000)
Br J Dermatol
, vol.143
, pp. 1133-1137
-
-
Hohl, D.1
-
8
-
-
0042322962
-
Reticular erythrokeratoderma: A new disorder of cornification
-
Itin PH, Moschopulos M, Richard G: Reticular erythrokeratoderma: A new disorder of cornification. Am J Med Genet 120:237-240, 2003
-
(2003)
Am J Med Genet
, vol.120
, pp. 237-240
-
-
Itin, P.H.1
Moschopulos, M.2
Richard, G.3
-
9
-
-
0035096676
-
Connexin mutations in skin disease and hearing loss
-
Kelsell DP, Di WL, Houseman MJ: Connexin mutations in skin disease and hearing loss. Am J Hum Genet 68:559-568, 2001
-
(2001)
Am J Hum Genet
, vol.68
, pp. 559-568
-
-
Kelsell, D.P.1
Di, W.L.2
Houseman, M.J.3
-
10
-
-
0036657046
-
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions
-
Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, Mevorah B: Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. Pediatr Dermatol 19:285-292, 2002
-
(2002)
Pediatr Dermatol
, vol.19
, pp. 285-292
-
-
Landau, M.1
Cohen-Bar-Dayan, M.2
Hohl, D.3
Ophir, J.4
Wolf, C.R.5
Gat, A.6
Mevorah, B.7
-
11
-
-
0036551020
-
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
-
Lopez-Bigas N, Melchionda S, Gasparini P, Borragan A, Arbones ML, Estivill X: A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. Hum Mutat 19:458, 2002
-
(2002)
Hum Mutat
, vol.19
, pp. 458
-
-
Lopez-Bigas, N.1
Melchionda, S.2
Gasparini, P.3
Borragan, A.4
Arbones, M.L.5
Estivill, X.6
-
12
-
-
0033760288
-
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
-
Macari F, Landau M, Cousin P, et al: Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 67:1296-1301, 2000
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1296-1301
-
-
Macari, F.1
Landau, M.2
Cousin, P.3
-
13
-
-
0025809412
-
Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings
-
Macfarlane AW, Chapman SJ, Verbov JL: Is erythrokeratoderma one disorder? a clinical and ultrastructural study of two siblings. Br J Dermatol 124:487-491, 1991
-
(1991)
Br J Dermatol
, vol.124
, pp. 487-491
-
-
Macfarlane, A.W.1
Chapman, S.J.2
Verbov, J.L.3
-
14
-
-
0028881133
-
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients
-
Morley SM, Dundas S, James J, et al: Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients. J Cell Sci 108:3463-3471, 1995
-
(1995)
J Cell Sci
, vol.108
, pp. 3463-3471
-
-
Morley, S.M.1
Dundas, S.2
James, J.3
-
15
-
-
33644988100
-
Treatment of erythrokeratodermia variabilis with etretinate and acidretin
-
Periš Z, Gruber F, Palle M: Treatment of erythrokeratodermia variabilis with etretinate and acidretin. Acta Dermatovenerol Croatica 1:169-172, 1993
-
(1993)
Acta Dermatovenerol Croatica
, vol.1
, pp. 169-172
-
-
Periš, Z.1
Gruber, F.2
Palle, M.3
-
16
-
-
0348013123
-
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis
-
Plantard L, Huber M, Macari F, Meda P, Hohl D: Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. Hum Mol Genet 12:3287-3294, 2003
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3287-3294
-
-
Plantard, L.1
Huber, M.2
Macari, F.3
Meda, P.4
Hohl, D.5
-
17
-
-
0033037183
-
Erythrokeratoderma en cocardes
-
Rajagopalan B, Pulimood S, George S, Jacob M: Erythrokeratoderma en cocardes. Clin Exp Dermatol 24:173-174, 1999
-
(1999)
Clin Exp Dermatol
, vol.24
, pp. 173-174
-
-
Rajagopalan, B.1
Pulimood, S.2
George, S.3
Jacob, M.4
-
18
-
-
0037715161
-
Connexin gene pathology
-
Richard G: Connexin gene pathology. Clin Exp Dermatol 28:397-409, 2003
-
(2003)
Clin Exp Dermatol
, vol.28
, pp. 397-409
-
-
Richard, G.1
-
19
-
-
0037378471
-
Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations
-
Richard G, Brown N, Rouan F, et al: Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol 120:601-609, 2003
-
(2003)
J Invest Dermatol
, vol.120
, pp. 601-609
-
-
Richard, G.1
Brown, N.2
Rouan, F.3
-
20
-
-
0034073333
-
The spectrum of mutations in erythrokeratodermias- novel and de novo mutations in GJB3
-
Richard G, Brown N, Smith LE, et al: The spectrum of mutations in erythrokeratodermias- novel and de novo mutations in GJB3. Hum Genet 106:321-329, 2000
-
(2000)
Hum Genet
, vol.106
, pp. 321-329
-
-
Richard, G.1
Brown, N.2
Smith, L.E.3
-
21
-
-
9844222499
-
Linkage studies in erythrokeratodermias; fine mapping, genetic heterogeneity and analysis of candidate genes
-
Richard G, Lin JPJ, Smith L, et al: Linkage studies in erythrokeratodermias; fine mapping, genetic heterogeneity and analysis of candidate genes. J Invest Dermatol 109:666-671, 1997
-
(1997)
J Invest Dermatol
, vol.109
, pp. 666-671
-
-
Richard, G.1
Lin, J.P.J.2
Smith, L.3
-
22
-
-
21644433379
-
Ichthyoses, erythrokeratodermas and associated disorders
-
Bolognia JL, Jorizzo JL, Rapini RP (eds). London: Mosby
-
Richard G, Ringpfeil F: Ichthyoses, erythrokeratodermas and associated disorders. In: Bolognia JL, Jorizzo JL, Rapini RP (eds). Dermatology, Vol. 1. London: Mosby, 2003; p 799-801
-
(2003)
Dermatology
, vol.1
, pp. 799-801
-
-
Richard, G.1
Ringpfeil, F.2
-
23
-
-
0031796918
-
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
-
Richard G, Smith LE, Bailey RA, et al: Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 20:366-369, 1998
-
(1998)
Nat Genet
, vol.20
, pp. 366-369
-
-
Richard, G.1
Smith, L.E.2
Bailey, R.A.3
-
24
-
-
0037728362
-
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro
-
Rouan F, Lo CW, Fertala A, et al: Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Exp Dermatol 12:191-197, 2003
-
(2003)
Exp Dermatol
, vol.12
, pp. 191-197
-
-
Rouan, F.1
Lo, C.W.2
Fertala, A.3
-
25
-
-
12944331128
-
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22
-
Saba TG, Montpetit A, Verner A, Rioux P, Hudson TJ, Drouin R, Drouin CA: An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. Hum Genet 116:167-171, 2005
-
(2005)
Hum Genet
, vol.116
, pp. 167-171
-
-
Saba, T.G.1
Montpetit, A.2
Verner, A.3
Rioux, P.4
Hudson, T.J.5
Drouin, R.6
Drouin, C.A.7
-
26
-
-
11144357607
-
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis
-
Terrinoni A, Leta A, Pedicelli C, et al: A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. J Invest Dermatol 122:837-839, 2004
-
(2004)
J Invest Dermatol
, vol.122
, pp. 837-839
-
-
Terrinoni, A.1
Leta, A.2
Pedicelli, C.3
-
28
-
-
0021743075
-
Genetic linkage between erythrokeratrodermia variabilis and Rh locus
-
van der Schroeff JG, Nijenhuis LE, Meera Khan P, et al: Genetic linkage between erythrokeratrodermia variabilis and Rh locus. Hum Genet 68:165-168, 1984
-
(1984)
Hum Genet
, vol.68
, pp. 165-168
-
-
Van Der Schroeff, J.G.1
Nijenhuis, L.E.2
Meera Khan, P.3
-
29
-
-
3042781708
-
Does progressive symmetric erythrokeratoderma exist?
-
van Steensel M: Does progressive symmetric erythrokeratoderma exist? Br J Dermatol 150:1043-1045, 2004
-
(2004)
Br J Dermatol
, vol.150
, pp. 1043-1045
-
-
Van Steensel, M.1
-
30
-
-
0033384991
-
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
-
Wilgoss A, Leigh IM, Barnes MR, et al: Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J Invest Dermatol 113:1119-1122, 1999
-
(1999)
J Invest Dermatol
, vol.113
, pp. 1119-1122
-
-
Wilgoss, A.1
Leigh, I.M.2
Barnes, M.R.3
|