-
1
-
-
0028600624
-
Epidermolysis bullosa: Hereditary skin fragility diseases as paradigms in cell biology
-
R.A.J. Eady, and M.G.S. Dunnill Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology Arch Dermatol Res 287 1994 2 9
-
(1994)
Arch Dermatol Res
, vol.287
, pp. 2-9
-
-
Eady, R.A.J.1
Dunnill, M.G.S.2
-
2
-
-
0033050072
-
Hereditary skin diseases of hemidesmosomes
-
M.F. Jonkman Hereditary skin diseases of hemidesmosomes J Dermatol Sci 20 1999 103 121
-
(1999)
J Dermatol Sci
, vol.20
, pp. 103-121
-
-
Jonkman, M.F.1
-
3
-
-
0026676248
-
Genetic skin disorders of keratin
-
E. Fuchs Genetic skin disorders of keratin J Invest Dermatol 99 1992 671 674
-
(1992)
J Invest Dermatol
, vol.99
, pp. 671-674
-
-
Fuchs, E.1
-
4
-
-
0025861772
-
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysis
-
P.A. Coulombe, M.E. Hutton, A. Letai, A. Hebert, A.S. Paller, and E. Fuchs Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analysis Cell 66 1991 1301 1311
-
(1991)
Cell
, vol.66
, pp. 1301-1311
-
-
Coulombe, P.A.1
Hutton, M.E.2
Letai, A.3
Hebert, A.4
Paller, A.S.5
Fuchs, E.6
-
5
-
-
0028230751
-
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex
-
Y.M. Chan, Q.C. Yu, J. LeBlanc-Straceski, A. Christiano, L. Pulkkinen, and R.S. Kucherlapati Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex J Cell Sci 107 1994 765 774
-
(1994)
J Cell Sci
, vol.107
, pp. 765-774
-
-
Chan, Y.M.1
Yu, Q.C.2
Leblanc-Straceski, J.3
Christiano, A.4
Pulkkinen, L.5
Kucherlapati, R.S.6
-
6
-
-
0028180092
-
Mutation in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
-
L. Pulkkinen, A.M. Christiano, T. Airenne, H. Haakana, K. Tryggvason, and J. Uitto Mutation in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa Nat Genet 6 1994 293 298
-
(1994)
Nat Genet
, vol.6
, pp. 293-298
-
-
Pulkkinen, L.1
Christiano, A.M.2
Airenne, T.3
Haakana, H.4
Tryggvason, K.5
Uitto, J.6
-
7
-
-
0030070588
-
Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa
-
A.M. Christiano, and J. Uitto Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa Exp Dermatol 5 1996 1 11
-
(1996)
Exp Dermatol
, vol.5
, pp. 1-11
-
-
Christiano, A.M.1
Uitto, J.2
-
8
-
-
0023950472
-
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance
-
K.M. Niemi, H. Somer, M. Kero, L. Kanerva, and M. Haltia Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance Arch Dermatol 124 1988 551 554
-
(1988)
Arch Dermatol
, vol.124
, pp. 551-554
-
-
Niemi, K.M.1
Somer, H.2
Kero, M.3
Kanerva, L.4
Haltia, M.5
-
9
-
-
0024509171
-
Congenital muscular dystrophy and epidermolysis bullosa simplex
-
G. Kletter, O.B. Evance, J.A. Lee, B. Melvin, A.B. Yates, and H.G.O. Bock Congenital muscular dystrophy and epidermolysis bullosa simplex J Pediat 114 1989 104 107
-
(1989)
J Pediat
, vol.114
, pp. 104-107
-
-
Kletter, G.1
Evance, O.B.2
Lee, J.A.3
Melvin, B.4
Yates, A.B.5
Bock, H.G.O.6
-
10
-
-
0024358279
-
Autosomal recessive epidermolysis bullosa simplex: Generalized phenotypic features suggestive for junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases
-
J.D. Fine, J. Stenn, L. Johnson, T. Wright, H.G.O. Bock, and Y. Horiguchi Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive for junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases Arch Dermatol 125 1989 931 938
-
(1989)
Arch Dermatol
, vol.125
, pp. 931-938
-
-
Fine, J.D.1
Stenn, J.2
Johnson, L.3
Wright, T.4
Bock, H.G.O.5
Horiguchi, Y.6
-
11
-
-
0027218086
-
Epidermolysis bullosa simplex associated with spinal muscular atrophy
-
D.J. Weiss, and G.W. Fried Epidermolysis bullosa simplex associated with spinal muscular atrophy Int J Dermatol 32 1993 589 593
-
(1993)
Int J Dermatol
, vol.32
, pp. 589-593
-
-
Weiss, D.J.1
Fried, G.W.2
-
12
-
-
0029829634
-
Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystoropy
-
J. Uitto, L. Pulkkinen, F.J.D. Smith, and W.H.I. McLean Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystoropy Exp Dermatol 5 1996 237 246
-
(1996)
Exp Dermatol
, vol.5
, pp. 237-246
-
-
Uitto, J.1
Pulkkinen, L.2
Smith, F.J.D.3
McLean, W.H.I.4
-
13
-
-
0029970098
-
Defective expression of Plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy
-
Y. Gache, S. Chavanas, J.P. Lacour, G. Wiche, K. Owaribe, and G. Meneguzzi Defective expression of Plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy J Clin Invest 97 1996 2289 2298
-
(1996)
J Clin Invest
, vol.97
, pp. 2289-2298
-
-
Gache, Y.1
Chavanas, S.2
Lacour, J.P.3
Wiche, G.4
Owaribe, K.5
Meneguzzi, G.6
-
14
-
-
0029798270
-
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
-
L. Pulkkinen, F.J.D. Smith, H. Shimizu, S. Murata, H. Yaoita, and H. Hachisuka Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy Hum Mol Genet 5 1996 1539 1546
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1539-1546
-
-
Pulkkinen, L.1
Smith, F.J.D.2
Shimizu, H.3
Murata, S.4
Yaoita, H.5
Hachisuka, H.6
-
15
-
-
0029811246
-
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy
-
S. Chavanas, L. Pulkkinen, Y. Gache, F.J.D. Smith, W.H.I. McLean, and J. Uitto A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy J Clin Invest 98 1996 2196 2200
-
(1996)
J Clin Invest
, vol.98
, pp. 2196-2200
-
-
Chavanas, S.1
Pulkkinen, L.2
Gache, Y.3
Smith, F.J.D.4
McLean, W.H.I.5
Uitto, J.6
-
16
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
F.J. Smith, R.A. Eady, I.M. Leigh, J.R. McMillan, E.L. Rugg, and D.P. Kelsell Plectin deficiency results in muscular dystrophy with epidermolysis bullosa Nat Genet 13 1996 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
-
17
-
-
9444272226
-
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization
-
W.H.I. McLean, L. Pulkkinen, F.J.D. Smith, E.L. Rugg, E.B. Lane, and F. Bullrich Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization Genes Dev 10 1966 1724 1735
-
(1966)
Genes Dev
, vol.10
, pp. 1724-1735
-
-
McLean, W.H.I.1
Pulkkinen, L.2
Smith, F.J.D.3
Rugg, E.L.4
Lane, E.B.5
Bullrich, F.6
-
18
-
-
15144357230
-
Recessive epidermolysis bullosa simplex associated with plectin mutations: Infantile respiratory complications in two unrelated cases
-
J.E. Mellerio, F.J.D. Smith, J.R. McMillan, W.H. McLean, J.A. McGrath, and G.A. Morrison Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases Br J Dermatol 137 1997 898 906
-
(1997)
Br J Dermatol
, vol.137
, pp. 898-906
-
-
Mellerio, J.E.1
Smith, F.J.D.2
McMillan, J.R.3
McLean, W.H.4
McGrath, J.A.5
Morrison, G.A.6
-
19
-
-
0031892755
-
Novel compound heterozygouse mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations
-
M. Dang, L. Pulkkinen, F.J. Smith, W.H. McLean, and J. Uitto Novel compound heterozygouse mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations Lab Invest 78 1998 195 204
-
(1998)
Lab Invest
, vol.78
, pp. 195-204
-
-
Dang, M.1
Pulkkinen, L.2
Smith, F.J.3
McLean, W.H.4
Uitto, J.5
-
20
-
-
0031768579
-
The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1
-
H. Shimizu, Y. Takizawa, L. Pulkkinen, J.J. Zone, K. Matsumoto, and T. Saida The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1 J Invest Dermatol 111 1998 887 892
-
(1998)
J Invest Dermatol
, vol.111
, pp. 887-892
-
-
Shimizu, H.1
Takizawa, Y.2
Pulkkinen, L.3
Zone, J.J.4
Matsumoto, K.5
Saida, T.6
-
21
-
-
0032811908
-
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
-
B.L. Banwell, J. Russel, T. Fukudome, X.M. Shen, G. Stilling, and A.G. Engel Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency J Neutropathol Exp Neurol 58 1999 832 846
-
(1999)
J Neutropathol Exp Neurol
, vol.58
, pp. 832-846
-
-
Banwell, B.L.1
Russel, J.2
Fukudome, T.3
Shen, X.M.4
Stilling, G.5
Engel, A.G.6
-
22
-
-
0032728178
-
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy
-
H. Shimizu, T. Masunaga, Y. Kurihara, K. Owaribe, G. Wiche, and L. Pulkkinen Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy Arch Dermatol Res 291 1999 531 537
-
(1999)
Arch Dermatol Res
, vol.291
, pp. 531-537
-
-
Shimizu, H.1
Masunaga, T.2
Kurihara, Y.3
Owaribe, K.4
Wiche, G.5
Pulkkinen, L.6
-
23
-
-
0032694076
-
Epidermolysis bullosa simplex associated with muscular dystrophy: Phenotype-genotype correlations and review of the literature
-
H. Shimizu, Y. Takizawa, L. Pulkkinen, S. Murata, M. Kawai, and H. Hachisuka Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature J Am Acad Dermatol 41 1999 950 956
-
(1999)
J Am Acad Dermatol
, vol.41
, pp. 950-956
-
-
Shimizu, H.1
Takizawa, Y.2
Pulkkinen, L.3
Murata, S.4
Kawai, M.5
Hachisuka, H.6
-
24
-
-
0032943585
-
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests
-
Y. Takizawa, H. Shimizu, F. Rouan, M. Kawai, M. Udono, and L. Pulkkinen Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests J Invest Dermatol 112 1999 109 112
-
(1999)
J Invest Dermatol
, vol.112
, pp. 109-112
-
-
Takizawa, Y.1
Shimizu, H.2
Rouan, F.3
Kawai, M.4
Udono, M.5
Pulkkinen, L.6
-
25
-
-
0034133976
-
Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene
-
M. Kunz, F. Rouan, L. Pulkkinen, H. Hamm, R. Jeschke, and L. Bruckner-Tuderman Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene J Invest Dermatol 114 2000 376 380
-
(2000)
J Invest Dermatol
, vol.114
, pp. 376-380
-
-
Kunz, M.1
Rouan, F.2
Pulkkinen, L.3
Hamm, H.4
Jeschke, R.5
Bruckner-Tuderman, L.6
-
26
-
-
0034083857
-
Epidermolysis bullosa: Novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy
-
F. Rouan, L. Pulkkinenn, G. Meneguzzi, S. LaForgia, P. Hyde, and D.U. Kim Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy J Invest Dermatol 114 2000 381 387
-
(2000)
J Invest Dermatol
, vol.114
, pp. 381-387
-
-
Rouan, F.1
Pulkkinenn, L.2
Meneguzzi, G.3
Laforgia, S.4
Hyde, P.5
Kim, D.U.6
-
27
-
-
0035134083
-
A compound heterozygouse one amino-acid insertion/nonsense mutation in the plectin gene causes epidrmolysis bullosa simplex with plectin deficiency
-
J.W. Bauer, F. Rouan, B. Kofler, G.A. Rezniczek, I. Kornacker, and W. Muss A compound heterozygouse one amino-acid insertion/nonsense mutation in the plectin gene causes epidrmolysis bullosa simplex with plectin deficiency Am J Pathol 158 2001 617 625
-
(2001)
Am J Pathol
, vol.158
, pp. 617-625
-
-
Bauer, J.W.1
Rouan, F.2
Kofler, B.3
Rezniczek, G.A.4
Kornacker, I.5
Muss, W.6
-
28
-
-
2442675181
-
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
-
U. Schara, J. Tucke, W. Mortier, T. Nusslein, F. Rouan, and E. Pfendner Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation Eur J Pediatr 163 2004 218 222
-
(2004)
Eur J Pediatr
, vol.163
, pp. 218-222
-
-
Schara, U.1
Tucke, J.2
Mortier, W.3
Nusslein, T.4
Rouan, F.5
Pfendner, E.6
-
29
-
-
1942508218
-
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation
-
D. Koss-Harnes, B. Hoyheim, M.F. Jonkman, W.P. de Groot, C.J. de Weerdt, and B. Nikolic Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation Acta Derm Venereol 84 2004 124 131
-
(2004)
Acta Derm Venereol
, vol.84
, pp. 124-131
-
-
Koss-Harnes, D.1
Hoyheim, B.2
Jonkman, M.F.3
De Groot, W.P.4
De Weerdt, C.J.5
Nikolic, B.6
-
30
-
-
0036276158
-
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy
-
R. Schroder, W.S. Kunz, F. Rouan, E. Pfendner, K. Tolksdorf, and K. Kappes-Horn Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy J Neuropathol Exp Neurol 61 2002 520 530
-
(2002)
J Neuropathol Exp Neurol
, vol.61
, pp. 520-530
-
-
Schroder, R.1
Kunz, W.S.2
Rouan, F.3
Pfendner, E.4
Tolksdorf, K.5
Kappes-Horn, K.6
-
31
-
-
0346363880
-
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin
-
A. Charlesworth, L. Gagnoux-Palacios, M. Bonduelle, J.P. Ortonne, L. De Raeve, and G. Meneguzzi Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin J Invest Dermatol 121 2003 1344 1348
-
(2003)
J Invest Dermatol
, vol.121
, pp. 1344-1348
-
-
Charlesworth, A.1
Gagnoux-Palacios, L.2
Bonduelle, M.3
Ortonne, J.P.4
De Raeve, L.5
Meneguzzi, G.6
-
32
-
-
0033731151
-
Cultured keratinocytes from plectin/HD1-deficient epidermolysis bullosa simplex showed altered ability of adhesion to the matrix
-
K. Kurose, O. Mori, H. Hachisuka, H. Shimizu, K. Owaribe, and T. Hashimoto Cultured keratinocytes from plectin/HD1-deficient epidermolysis bullosa simplex showed altered ability of adhesion to the matrix J Dermatol Sci 24 2000 184 189
-
(2000)
J Dermatol Sci
, vol.24
, pp. 184-189
-
-
Kurose, K.1
Mori, O.2
Hachisuka, H.3
Shimizu, H.4
Owaribe, K.5
Hashimoto, T.6
-
33
-
-
0024329341
-
Plectin: General overview and appraisal of its potential role as a subunit protein of the cytomatrix
-
G. Wiche Plectin: general overview and appraisal of its potential role as a subunit protein of the cytomatrix Crit Rev Biochem 24 1989 41 67
-
(1989)
Crit Rev Biochem
, vol.24
, pp. 41-67
-
-
Wiche, G.1
-
34
-
-
0021749865
-
Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes
-
G. Wiche, R. Krepler, U. Artlieb, R. Pytela, and W. Aberer Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes Exp Cell Res 155 1984 43 49
-
(1984)
Exp Cell Res
, vol.155
, pp. 43-49
-
-
Wiche, G.1
Krepler, R.2
Artlieb, U.3
Pytela, R.4
Aberer, W.5
-
35
-
-
0026577999
-
Identification of a new hemidesmosomal protein, HD1: A major, high molecular mass component of isolated hemidesmosomes
-
Y. Hieda, Y. Nishizawa, J. Uematsu, and K. Owaribe Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes J Cell Biol 116 1992 1497 1506
-
(1992)
J Cell Biol
, vol.116
, pp. 1497-1506
-
-
Hieda, Y.1
Nishizawa, Y.2
Uematsu, J.3
Owaribe, K.4
-
36
-
-
0032962217
-
Mutation analysis and molecular genetics of epidermolysis bullosa
-
L. Pulkkinen, and J. Uitto Mutation analysis and molecular genetics of epidermolysis bullosa Matrix Biol 18 1999 29 42
-
(1999)
Matrix Biol
, vol.18
, pp. 29-42
-
-
Pulkkinen, L.1
Uitto, J.2
|