-
1
-
-
0032910126
-
Laminins of the dermo-epidermal junction
-
Aumailley M, Rousselle P: Laminins of the dermo-epidermal junction. Matrix Biol 1999; 18: 19-28
-
(1999)
Matrix Biol
, vol.18
, pp. 19-28
-
-
Aumailley, M.1
Rousselle, P.2
-
2
-
-
0030767241
-
Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity
-
Uitto J, Pulkkinen L, McLean WH: Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 1997; 3: 457-465
-
(1997)
Mol Med Today
, vol.3
, pp. 457-465
-
-
Uitto, J.1
Pulkkinen, L.2
McLean, W.H.3
-
3
-
-
0033020064
-
The palmoplantar keratodermas: Much more than palms and soles
-
Kelsell DP, Stevens HP: 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
-
4
-
-
0031765429
-
Diverse functions of vertebrate gap junctions
-
Simon AM, Goodenough DA: Diverse functions of vertebrate gap junctions. Trends Cell Biol 1998; 8: 477-483
-
(1998)
Trends Cell Biol
, vol.8
, pp. 477-483
-
-
Simon, A.M.1
Goodenough, D.A.2
-
5
-
-
0033002783
-
Genetic diseases and gene knockouts reveal diverse connexin functions
-
White TW, Paul DL: Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol 1999; 61: 283-310
-
(1999)
Annu Rev Physiol
, vol.61
, pp. 283-310
-
-
White, T.W.1
Paul, D.L.2
-
6
-
-
0032790899
-
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
-
Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS: 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
Ocana-Sierra, J.3
Calzolari, E.4
Cambiaghi, S.5
Scudder, P.M.6
Hovnanian, A.7
Monaco, A.P.8
Munro, C.S.9
-
7
-
-
0034198467
-
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
-
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 141-144
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 141-144
-
-
Kelsell, D.P.1
Wilgoss, A.L.2
Richard, G.3
Stevens, H.P.4
Munro, C.S.5
Leigh, I.M.6
-
8
-
-
0031722150
-
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deafmutism and palmoplantar keratoderma
-
Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ: Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deafmutism 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
-
9
-
-
0031796918
-
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
-
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH, Jr., DiGiovanna JJ, Compton JG, Bale SJ: Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998; 20: 366-369
-
(1998)
Nat Genet
, vol.20
, pp. 366-369
-
-
Richard, G.1
Smith, L.E.2
Bailey, R.A.3
Itin, P.4
Hohl, D.5
Epstein E.H., Jr.6
DiGiovanna, J.J.7
Compton, J.G.8
Bale, S.J.9
-
10
-
-
0033384991
-
Identification of a novel mutation R42P in the gap junction protein heta-3 associated with autosomal dominant erythrokeratoderma variabilis
-
Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP: Identification of a novel mutation R42P in the gap junction protein heta-3 associated with autosomal dominant erythrokeratoderma variabilis. J Invest Dermatol 1999; 113: 1119-1122
-
(1999)
J Invest Dermatol
, vol.113
, pp. 1119-1122
-
-
Wilgoss, A.1
Leigh, I.M.2
Barnes, M.R.3
Dopping-Hepenstal, P.4
Eady, R.A.5
Walter, J.M.6
Kennedy, C.T.7
Kelsell, D.P.8
-
11
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, 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
-
12
-
-
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
-
13
-
-
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: 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
-
14
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness
-
Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, LeviAcobas 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
LeviAcobas, F.6
Weil, D.7
Petit, C.8
-
15
-
-
0030047838
-
Cytoskeleton-membrane interactions
-
Cowin P, Burke B: Cytoskeleton-membrane interactions. Curr Opin Cell Biol 1996; 8: 56-65
-
(1996)
Curr Opin Cell Biol
, vol.8
, pp. 56-65
-
-
Cowin, P.1
Burke, B.2
-
16
-
-
0030006606
-
Desmosomes and hemidesmosomes: Structure and function of molecular components
-
Green KJ, Jones JC: Desmosomes and hemidesmosomes: structure and function of molecular components. Faseb J 1996; 10: 871-881
-
(1996)
Faseb J
, vol.10
, pp. 871-881
-
-
Green, K.J.1
Jones, J.C.2
-
17
-
-
0032930569
-
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
-
Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE: Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999; 8: 143-148
-
(1999)
Hum Mol Genet
, vol.8
, pp. 143-148
-
-
Armstrong, D.K.1
McKenna, K.E.2
Purkis, P.E.3
Green, K.J.4
Eady, R.A.5
Leigh, I.M.6
Hughes, A.E.7
-
18
-
-
0033401667
-
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
-
Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA: Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999; 113: 940-946
-
(1999)
J Invest Dermatol
, vol.113
, pp. 940-946
-
-
Whittock, N.V.1
Ashton, G.H.2
Dopping-Hepenstal, P.J.3
Gratian, M.J.4
Keane, F.M.5
Eady, R.A.6
McGrath, J.A.7
-
19
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G: Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996; 13: 450-457
-
(1996)
Nat Genet
, vol.13
, pp. 450-457
-
-
Smith, F.J.1
Eady, R.A.2
Leigh, I.M.3
McMillan, J.R.4
Rugg, E.L.5
Kelsell, D.P.6
Bryant, S.P.7
Spurr, N.K.8
Geddes, J.F.9
Kirtschig, G.10
-
20
-
-
0032970153
-
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
-
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI: N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8: 971-976
-
(1999)
Hum Mol Genet
, vol.8
, pp. 971-976
-
-
Rickman, L.1
Simrak, D.2
Stevens, H.P.3
Hunt, D.M.4
King, I.A.5
Bryant, S.P.6
Eady, R.A.7
Leigh, I.M.8
Arnemann, J.9
Magee, A.I.10
-
21
-
-
84984774604
-
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
-
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA: Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-244
-
(1997)
Nat Genet
, vol.17
, pp. 240-244
-
-
McGrath, J.A.1
McMillan, J.R.2
Shemanko, C.S.3
Runswick, S.K.4
Leigh, I.M.5
Lane, E.B.6
Garrod, D.R.7
Eady, R.A.8
-
22
-
-
0030856140
-
Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
-
Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R, Franke WW: Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res 1997; 290: 481-499
-
(1997)
Cell Tissue Res
, vol.290
, pp. 481-499
-
-
Schmidt, A.1
Langbein, L.2
Rode, M.3
Pratzel, S.4
Zimbelmann, R.5
Franke, W.W.6
-
23
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Bahoonian C, Jeffery S, McKenna WJ: Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355: 2119-2124
-
(2000)
Lancet
, vol.355
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
Tsatsopoulou, A.4
Anastasakis, A.5
Coonar, A.6
Norman, M.7
Bahoonian, C.8
Jeffery, S.9
McKenna, W.J.10
-
24
-
-
0034673331
-
Regulation of heta-catenin signaling in the Wnt pathway
-
Kikuchi A: Regulation of heta-catenin signaling in the Wnt pathway. Biochem Biophys Res Commun 2000; 268: 243-248
-
(2000)
Biochem Biophys Res Commun
, vol.268
, pp. 243-248
-
-
Kikuchi, A.1
-
25
-
-
0032953231
-
A common human skin tumour is caused by activating mutations in beta-catenin
-
Chan EF, Gat U, McNiff JM, Fuchs E: A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet 1999; 21: 410-413
-
(1999)
Nat Genet
, vol.21
, pp. 410-413
-
-
Chan, E.F.1
Gat, U.2
McNiff, J.M.3
Fuchs, E.4
-
26
-
-
0034014330
-
Alteration of beta-catenin expression in esophageal squamous-cell carcinoma
-
Ninomiya I, Endo Y, Fushida S, Sasagawa T, Miyashita T, Fujimura T, Nishimura G, Tani T, Hashimoto T, Yagi M: Alteration of beta-catenin expression in esophageal squamous-cell carcinoma. Int J Cancer 2000; 85: 757-761
-
(2000)
Int J Cancer
, vol.85
, pp. 757-761
-
-
Ninomiya, I.1
Endo, Y.2
Fushida, S.3
Sasagawa, T.4
Miyashita, T.5
Fujimura, T.6
Nishimura, G.7
Tani, T.8
Hashimoto, T.9
Yagi, M.10
-
27
-
-
0031921581
-
Formation of the epidermal calcium gradient coincides with key milestones of barrier ontogenesis in the rodent
-
Elias PM, Nau P, Hanley K, Cullander C, Crumrine D, Bench G, Sideras-Haddad E, Mauro T, Williams ML, Feingold KR: Formation of the epidermal calcium gradient coincides with key milestones of barrier ontogenesis in the rodent. J Invest Dermatol 1998; 110: 399-404
-
(1998)
J Invest Dermatol
, vol.110
, pp. 399-404
-
-
Elias, P.M.1
Nau, P.2
Hanley, K.3
Cullander, C.4
Crumrine, D.5
Bench, G.6
Sideras-Haddad, E.7
Mauro, T.8
Williams, M.L.9
Feingold, K.R.10
-
28
-
-
0032978357
-
2- pump, cause Darier disease
-
2- pump, cause Darier disease. Nat Genet 1999; 21: 271-277
-
(1999)
Nat Genet
, vol.21
, pp. 271-277
-
-
Sakuntabhai, A.1
Ruiz-Perez, V.2
Carter, S.3
Jacobsen, N.4
Burge, S.5
Monk, S.6
Smith, M.7
Murno, C.S.8
O'Donovan, M.9
Craddock, N.10
-
29
-
-
0032877634
-
ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
-
Ruiz-Perez, VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P: ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum Mol Genet 1999; 8: 1621-1630
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1621-1630
-
-
Ruiz-Perez, V.L.1
Carter, S.A.2
Healy, E.3
Todd, C.4
Rees, J.L.5
Steijlen, P.M.6
Carmichael, A.J.7
Lewis, H.M.8
Hohl, D.9
Itin, P.10
-
30
-
-
0033986288
-
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
-
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH, Jr.: Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 2000; 24: 61-65
-
(2000)
Nat Genet
, vol.24
, pp. 61-65
-
-
Hu, Z.1
Bonifas, J.M.2
Beech, J.3
Bench, G.4
Shigihara, T.5
Ogawa, H.6
Ikeda, S.7
Mauro, T.8
Epstein E.H., Jr.9
-
31
-
-
0032709548
-
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
-
Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG: Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23: 421-424
-
(1999)
Nat Genet
, vol.23
, pp. 421-424
-
-
Toomes, C.1
James, J.2
Wood, A.J.3
Wu, C.L.4
McCormick, D.5
Lench, N.6
Hewitt, C.7
Moynihan, L.8
Roberts, E.9
Woods, C.G.10
|