-
1
-
-
84984774604
-
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
-
McGrath JA, McMillan JR, Shemanko CS, et al. 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
-
2
-
-
0032988426
-
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
-
McGrath JA, Hoeger PH, Christiano AM, et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol. 1999;140:297-307.
-
(1999)
Br J Dermatol
, vol.140
, pp. 297-307
-
-
McGrath, J.A.1
Hoeger, P.H.2
Christiano, A.M.3
-
3
-
-
0033832770
-
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
-
Whittock NV, Haftek M, Angoulvant N, et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol. 2000;115:368-374.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 368-374
-
-
Whittock, N.V.1
Haftek, M.2
Angoulvant, N.3
-
4
-
-
0036548393
-
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
-
Hamada T, South AP, Mitsuhashi Y, et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol. 2002;11:107-114.
-
(2002)
Exp Dermatol
, vol.11
, pp. 107-114
-
-
Hamada, T.1
South, A.P.2
Mitsuhashi, Y.3
-
5
-
-
1842639453
-
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
-
Sprecher E, Molho-Pessach V, Ingber A, et al. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol. 2004;122:647-651.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 647-651
-
-
Sprecher, E.1
Molho-Pessach, V.2
Ingber, A.3
-
6
-
-
0041342100
-
Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1
-
McMillan JR, Haftek M, Akiyama M, et al. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol. 2003;123:96-103.
-
(2003)
J Invest Dermatol
, vol.123
, pp. 96-103
-
-
McMillan, J.R.1
Haftek, M.2
Akiyama, M.3
-
9
-
-
0029859589
-
Mucinous syringometaplasia. An immunohistochemical and ultrastructural study of a case
-
Bergman R, David R, Friedman-Birnbaum R, et al. Mucinous syringometaplasia. An immunohistochemical and ultrastructural study of a case. Am J Dermatopathol. 1996;18:521-526.
-
(1996)
Am J Dermatopathol
, vol.18
, pp. 521-526
-
-
Bergman, R.1
David, R.2
Friedman-Birnbaum, R.3
-
10
-
-
1642315423
-
Plakophilin 1: An important stabilizer of desmosomes
-
South AP. Plakophilin 1: an important stabilizer of desmosomes. Clin Exp Dermatol. 2004;29:161-167.
-
(2004)
Clin Exp Dermatol
, vol.29
, pp. 161-167
-
-
South, A.P.1
-
11
-
-
0030856140
-
Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
-
Schmidt A, Langbein L, Rode M, et al. 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
-
12
-
-
0035907041
-
Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin
-
Huelsken J, Vogel R, Erdmann B, et al. Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell. 2001;105: 533-545.
-
(2001)
Cell
, vol.105
, pp. 533-545
-
-
Huelsken, J.1
Vogel, R.2
Erdmann, B.3
-
13
-
-
0032567078
-
De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin
-
Gat U, DasGupta R, Degenstein I, Fuchs E. De novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell. 1998;95:605-614.
-
(1998)
Cell
, vol.95
, pp. 605-614
-
-
Gat, U.1
Dasgupta, R.2
Degenstein, I.3
Fuchs, E.4
-
14
-
-
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, et al. 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
-
15
-
-
0041488736
-
Desmosomes exhibit site-specific features in human palm skin
-
Wan H, Dopping-Hepenstal PJC, Gratian MJ, et al. Desmosomes exhibit site-specific features in human palm skin. Exp Dermatol. 2003;12:378-388.
-
(2003)
Exp Dermatol
, vol.12
, pp. 378-388
-
-
Wan, H.1
Dopping-Hepenstal, P.J.C.2
Gratian, M.J.3
-
17
-
-
0036454873
-
Mechanisms of desmosome assembly and dissembly
-
Kitajima Y. Mechanisms of desmosome assembly and dissembly. Clin Exp Dermatol. 2002;27:684-690.
-
(2002)
Clin Exp Dermatol
, vol.27
, pp. 684-690
-
-
Kitajima, Y.1
-
18
-
-
2442691455
-
Histopathology of hypotrichosis with juvenile macular dystrophy
-
Bergman R, Sapir M, Sprecher E. Histopathology of hypotrichosis with juvenile macular dystrophy. Am J Dermatopathol. 2004;26:205-209.
-
(2004)
Am J Dermatopathol
, vol.26
, pp. 205-209
-
-
Bergman, R.1
Sapir, M.2
Sprecher, E.3
-
19
-
-
0034795548
-
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3 encoding P-cadherin
-
Sprecher E, Bergman R, Richard G, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3 encoding P-cadherin. Nat Genet. 2001;29:134-136.
-
(2001)
Nat Genet
, vol.29
, pp. 134-136
-
-
Sprecher, E.1
Bergman, R.2
Richard, G.3
-
20
-
-
0032819810
-
Cadherins and their connections: Adhesion junctions have broader functions
-
Steinberg MS, McNutt PM. Cadherins and their connections: adhesion junctions have broader functions. Curr Opin Cell Biol. 1999;11:554-560.
-
(1999)
Curr Opin Cell Biol
, vol.11
, pp. 554-560
-
-
Steinberg, M.S.1
McNutt, P.M.2
-
21
-
-
0020967496
-
Vesicular, bullous and pustular disorders in infancy and childhood
-
Schachner L, Press S. Vesicular, bullous and pustular disorders in infancy and childhood. Pediatr Clin North Am. 1983;30:609-629.
-
(1983)
Pediatr Clin North Am
, vol.30
, pp. 609-629
-
-
Schachner, L.1
Press, S.2
|