-
1
-
-
18344413641
-
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5)
-
D. Aberdam M.F. Galliano J. Vailly Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5) Natur Genet 6 1994 299 304
-
(1994)
Natur Genet
, vol.6
, pp. 299-304
-
-
Aberdam, D.1
Galliano, M.F.2
Vailly, J.3
-
2
-
-
0023887748
-
A perspective on the role of collagenase in recessive dystrophic epidermolysis bullosa
-
E.A. Bauer M. Tabas A perspective on the role of collagenase in recessive dystrophic epidermolysis bullosa Arch Dermatol 124 1988 734 736
-
(1988)
Arch Dermatol
, vol.124
, pp. 734-736
-
-
Bauer, E.A.1
Tabas, M.2
-
3
-
-
0026345962
-
Epidermolysis bullosa simplex: Evidence in two families for keratin gene adnormalities
-
J.M. Bonidas A.L. Rothman E.H. Spstein Epidermolysis bullosa simplex: Evidence in two families for keratin gene adnormalities Science 254 1991 1202 1205
-
(1991)
Science
, vol.254
, pp. 1202-1205
-
-
Bonidas, J.M.1
Rothman, A.L.2
Spstein, E.H.3
-
4
-
-
0031845619
-
Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion–reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes
-
L. Borradori S. Chavanas R.Q. Schaapveld Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion–reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes Exp Cell Res 239 1998 463 476
-
(1998)
Exp Cell Res
, vol.239
, pp. 463-476
-
-
Borradori, L.1
Chavanas, S.2
Schaapveld, R.Q.3
-
5
-
-
0030773865
-
The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit
-
L.P. Borradori P.J. Koch C.M. Niessen The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit J Cell Biol 136 1997 1333 1347
-
(1997)
J Cell Biol
, vol.136
, pp. 1333-1347
-
-
Borradori, L.P.1
Koch, P.J.2
Niessen, C.M.3
-
8
-
-
0029864911
-
Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment
-
M.F. Champliaud G.P. Lunstrum P. Rousselle Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment J Cell Biol 132 1996 1189 1198
-
(1996)
J Cell Biol
, vol.132
, pp. 1189-1198
-
-
Champliaud, M.F.1
Lunstrum, G.P.2
Rousselle, P.3
-
9
-
-
0027943989
-
A human keratin 14 “knockout”: The absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein
-
Y. Chan I. Anton-Lamprech Q.C. Yu A human keratin 14 “knockout”: The absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein Genes Dev 8 1994 2574 2587
-
(1994)
Genes Dev
, vol.8
, pp. 2574-2587
-
-
Chan, Y.1
Anton-Lamprech, I.2
Yu, Q.C.3
-
10
-
-
0029811246
-
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy
-
S. Chavanas L. Pulkkinen Y. Gache 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
-
11
-
-
0030987772
-
Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components
-
M. Chen M.P. Marinkovich A. Veis Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components J Biol Chem 272 1997 14516 14522
-
(1997)
J Biol Chem
, vol.272
, pp. 14516-14522
-
-
Chen, M.1
Marinkovich, M.P.2
Veis, A.3
-
12
-
-
0028361030
-
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa
-
A.M. Christiano G. Anhalt S. Gibbons Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa Genomics 21 1994 160 168
-
(1994)
Genomics
, vol.21
, pp. 160-168
-
-
Christiano, A.M.1
Anhalt, G.2
Gibbons, S.3
-
13
-
-
0028348553
-
Dominant dystrophic epidermolysis bullosa: Identification of a Gly-Ser substitution in the triple-helical domain of type VII collagen
-
A.M. Christiano M. Ryynanen J. Uitto Dominant dystrophic epidermolysis bullosa: Identification of a Gly-Ser substitution in the triple-helical domain of type VII collagen Proc Natl Acad Sci U S A 91 1994 3549 3553
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 3549-3553
-
-
Christiano, A.M.1
Ryynanen, M.2
Uitto, J.3
-
14
-
-
84980084773
-
Recurrent bullous eruption of feet
-
E.A. Cockayne Recurrent bullous eruption of feet Br J Dermatol 50 1938 358
-
(1938)
Br J Dermatol
, vol.50
, pp. 358
-
-
Cockayne, E.A.1
-
15
-
-
0025861772
-
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
-
P.A. Coulombe M.E. Hutton A. Letai Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses Cell 66 1991 1301 1311
-
(1991)
Cell
, vol.66
, pp. 1301-1311
-
-
Coulombe, P.A.1
Hutton, M.E.2
Letai, A.3
-
17
-
-
0000171747
-
Epidermolysis bullosa resembling juvenile dermatitis herpetiformis
-
G.B. Dowling Epidermolysis bullosa resembling juvenile dermatitis herpetiformis Br J Dermatol 66 1954 139
-
(1954)
Br J Dermatol
, vol.66
, pp. 139
-
-
Dowling, G.B.1
-
18
-
-
0030611639
-
Developmental expression of BPAG1-n: Insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice
-
J. Dowling Y. Yang R. Wollmann Developmental expression of BPAG1-n: Insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice Dev Biol 187 1997 131 142
-
(1997)
Dev Biol
, vol.187
, pp. 131-142
-
-
Dowling, J.1
Yang, Y.2
Wollmann, R.3
-
19
-
-
0031570308
-
Plectin transcript diversity: Identification and tissue distribution of variants with distinct first coding exons and rodless isoforms
-
C.E. Elliott B. Becker S. Oehler Plectin transcript diversity: Identification and tissue distribution of variants with distinct first coding exons and rodless isoforms Genomics 42 1997 115 125
-
(1997)
Genomics
, vol.42
, pp. 115-125
-
-
Elliott, C.E.1
Becker, B.2
Oehler, S.3
-
20
-
-
0023922090
-
Changing clinical and laboratory concepts in inherited epidermolysis bullosa
-
J.D. Fine Changing clinical and laboratory concepts in inherited epidermolysis bullosa Arch Dermatol 124 1988 523 525
-
(1988)
Arch Dermatol
, vol.124
, pp. 523-525
-
-
Fine, J.D.1
-
21
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
-
J.D. Fine E.A. Bauer R.A. Briggaman Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa J Am Acad Dermatol 24 1991 119 135
-
(1991)
J Am Acad Dermatol
, vol.24
, pp. 119-135
-
-
Fine, J.D.1
Bauer, E.A.2
Briggaman, R.A.3
-
22
-
-
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
-
23
-
-
0018037762
-
The expression of keratin genes in epidermis and cultured epidermal cells
-
E. Fuchs H. Green The expression of keratin genes in epidermis and cultured epidermal cells Cell 15 1978 887 897
-
(1978)
Cell
, vol.15
, pp. 887-897
-
-
Fuchs, E.1
Green, H.2
-
24
-
-
0029970098
-
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy
-
Y. Gache S.S. Ohavana J.P. Lacour 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
Ohavana, S.S.2
Lacour, J.P.3
-
25
-
-
0029744414
-
Functional re-expression of laminin-5 in laminin-gamma2–deficient human keratinocytes modifies cell morphology, motility, and adhesion
-
L. Gagnoux-Palacios J. Vailly M. Durand-Clement Functional re-expression of laminin-5 in laminin-gamma2–deficient human keratinocytes modifies cell morphology, motility, and adhesion J Biol Chem 271 1996 18437 18444
-
(1996)
J Biol Chem
, vol.271
, pp. 18437-18444
-
-
Gagnoux-Palacios, L.1
Vailly, J.2
Durand-Clement, M.3
-
26
-
-
1842298707
-
Characterization of a 50-kDa component of epithelial basement membranes using GDA-J/F3 monoclonal antibody
-
B. Gayraud B. Hopfner A. Jassim Characterization of a 50-kDa component of epithelial basement membranes using GDA-J/F3 monoclonal antibody J Biol Chem 272 1997 9531 9538
-
(1997)
J Biol Chem
, vol.272
, pp. 9531-9538
-
-
Gayraud, B.1
Hopfner, B.2
Jassim, A.3
-
27
-
-
0026726355
-
Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180
-
G.J. Giudice D.J. Emery L.A. Diaz Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180 J Invest Dermatol 99 1992 243 250
-
(1992)
J Invest Dermatol
, vol.99
, pp. 243-250
-
-
Giudice, G.J.1
Emery, D.J.2
Diaz, L.A.3
-
28
-
-
20644448026
-
Nouvelle etude sur la dermatite bulleuse congenitale avec kysts epidermiques
-
M.H. Hallopeau Nouvelle etude sur la dermatite bulleuse congenitale avec kysts epidermiques Ann Dermatol Syphiligr (Paris) 7 1896 453
-
(1896)
Ann Dermatol Syphiligr (Paris)
, vol.7
, pp. 453
-
-
Hallopeau, M.H.1
-
29
-
-
0017162011
-
Epidermolysis bullosa hereditaria with junctional blistering in an adult
-
I.U. Hashimoto U.W. Schnyder I. Anton-Lamprecht Epidermolysis bullosa hereditaria with junctional blistering in an adult Dermatologica 152 1976 72 86
-
(1976)
Dermatologica
, vol.152
, pp. 72-86
-
-
Hashimoto, I.U.1
Schnyder, U.W.2
Anton-Lamprecht, I.3
-
30
-
-
0029996334
-
Gastrostomy and growth in dystrophic epidermolysis bullosa
-
L. Haynes D.J. Atherton N. Ade-Ajayi Gastrostomy and growth in dystrophic epidermolysis bullosa Br J Dermatol 134 1996 872 879
-
(1996)
Br J Dermatol
, vol.134
, pp. 872-879
-
-
Haynes, L.1
Atherton, D.J.2
Ade-Ajayi, N.3
-
31
-
-
0026577999
-
Identification of a new major hemidesmosomal protein, HD1: A major high molecular mass component of isolated hemidesmosomes
-
Y. Heida Y. Nishizawa J. Uematsu Identification of a new major 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
-
-
Heida, Y.1
Nishizawa, Y.2
Uematsu, J.3
-
32
-
-
84980058987
-
Kongenitaler, nicht syphilitischer Pemphigus: Eine Ubersicht nebst Beschreibung einer neuen Krankheitsform
-
G. Herlitz Kongenitaler, nicht syphilitischer Pemphigus: Eine Ubersicht nebst Beschreibung einer neuen Krankheitsform Acta Paediatr 7 1935 315
-
(1935)
Acta Paediatr
, vol.7
, pp. 315
-
-
Herlitz, G.1
-
33
-
-
0027377608
-
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
-
L. Hilal A. Rochat P. Duquesnoy A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa Nat Genet 5 1993 287 293
-
(1993)
Nat Genet
, vol.5
, pp. 287-293
-
-
Hilal, L.1
Rochat, A.2
Duquesnoy, P.3
-
34
-
-
0020034842
-
Generalized atrophic benign epidermolysis bullosa
-
H. Hintner K. Wolff Generalized atrophic benign epidermolysis bullosa Arch Dermatol 118 1982 375 384
-
(1982)
Arch Dermatol
, vol.118
, pp. 375-384
-
-
Hintner, H.1
Wolff, K.2
-
35
-
-
0030890858
-
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation
-
A.D. Irvine K.E. McKenna H. Jenkinson A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation J Invest Dermatol 108 1997 809 810
-
(1997)
J Invest Dermatol
, vol.108
, pp. 809-810
-
-
Irvine, A.D.1
McKenna, K.E.2
Jenkinson, H.3
-
36
-
-
0028007366
-
Gene transfer into cultured human epidermis and its transplantation onto immunodeficient mice: an experimental model for somatic gene therapy
-
U.B. Jensen T.G. Jensen P.K. Jensen Gene transfer into cultured human epidermis and its transplantation onto immunodeficient mice: an experimental model for somatic gene therapy J Invest Dermatol 103 1994 391 394
-
(1994)
J Invest Dermatol
, vol.103
, pp. 391-394
-
-
Jensen, U.B.1
Jensen, T.G.2
Jensen, P.K.3
-
37
-
-
10344262023
-
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
-
M.F. Jonkman K. Heeres H.N. Pas Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex J Invest Dermatol 107 1996 764 769
-
(1996)
J Invest Dermatol
, vol.107
, pp. 764-769
-
-
Jonkman, M.F.1
Heeres, K.2
Pas, H.N.3
-
38
-
-
0028930755
-
180 kD bullous pemphigoid antigen is deficient in generalized atrophic benign epidermolysis bullosa
-
M.F. Jonkman M.C. de Jong K. Heeres 180 kD bullous pemphigoid antigen is deficient in generalized atrophic benign epidermolysis bullosa J Clin Invest 95 1995 1345 1352
-
(1995)
J Clin Invest
, vol.95
, pp. 1345-1352
-
-
Jonkman, M.F.1
de Jong, M.C.2
Heeres, K.3
-
39
-
-
0030975365
-
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
-
M.F. Jonkman H. Scheffer R. Stulp Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion Cell 88 1997 543 551
-
(1997)
Cell
, vol.88
, pp. 543-551
-
-
Jonkman, M.F.1
Scheffer, H.2
Stulp, R.3
-
40
-
-
0023102477
-
Type VII collagen forms an extended network of anchoring fibrils
-
D.R. Keene L.Y. Sakai G.P. Lunstrum Type VII collagen forms an extended network of anchoring fibrils J Biol Chem 104 1997 611 621
-
(1997)
J Biol Chem
, vol.104
, pp. 611-621
-
-
Keene, D.R.1
Sakai, L.Y.2
Lunstrum, G.P.3
-
41
-
-
0029044045
-
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
-
S. Kivirikko J.A. McGrath C. Baudoin A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa Hum Mol Genet 4 1995 959 962
-
(1995)
Hum Mol Genet
, vol.4
, pp. 959-962
-
-
Kivirikko, S.1
McGrath, J.A.2
Baudoin, C.3
-
42
-
-
0030902370
-
Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris
-
P.J. Koch M.G. Mahoney H. Ishikawa Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris J Cell Biol 137 1997 1091 1102
-
(1997)
J Cell Biol
, vol.137
, pp. 1091-1102
-
-
Koch, P.J.1
Mahoney, M.G.2
Ishikawa, H.3
-
43
-
-
0002429676
-
Hereditare Anlage zur Blasenbildung
-
H. Koebner Hereditare Anlage zur Blasenbildung Dtsch Med Wochenschr 12 1886 21
-
(1886)
Dtsch Med Wochenschr
, vol.12
, pp. 21
-
-
Koebner, H.1
-
44
-
-
0029961661
-
Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)
-
C.G. Liu C. Maercker M.J. Cartanon Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24) Proc Natl Acad Sci U S A 93 1996 4278 4283
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 4278-4283
-
-
Liu, C.G.1
Maercker, C.2
Cartanon, M.J.3
-
45
-
-
0029043889
-
The basal keratin network of stratified squamous epithelia: Defining K15 function in the absence of K14
-
C. Lloyd Q.C. Yu J. Cheng The basal keratin network of stratified squamous epithelia: Defining K15 function in the absence of K14 J Cell Biol 129 1995 1329 1344
-
(1995)
J Cell Biol
, vol.129
, pp. 1329-1344
-
-
Lloyd, C.1
Yu, Q.C.2
Cheng, J.3
-
46
-
-
0027486159
-
The molecular genetics of basement membrane diseases
-
M.P. Marinkovich The molecular genetics of basement membrane diseases Arch Dermatol 129 1993 1557 1565
-
(1993)
Arch Dermatol
, vol.129
, pp. 1557-1565
-
-
Marinkovich, M.P.1
-
47
-
-
0026629850
-
The dermal-epidermal junction of human skin contains a novel laminin variant
-
M.P. Marinkovich G.P. Lunstrum D.R. Keene The dermal-epidermal junction of human skin contains a novel laminin variant J Cell Biol 119 1992 695 703
-
(1992)
J Cell Biol
, vol.119
, pp. 695-703
-
-
Marinkovich, M.P.1
Lunstrum, G.P.2
Keene, D.R.3
-
48
-
-
0026640262
-
The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor
-
M.P. Marinkovich G.P. Lunstrum R.E. Burgeson The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor J Biol Chem 267 1992 17900 17906
-
(1992)
J Biol Chem
, vol.267
, pp. 17900-17906
-
-
Marinkovich, M.P.1
Lunstrum, G.P.2
Burgeson, R.E.3
-
49
-
-
0027420876
-
The basement membrane proteins kalinin and nicein are structurally and immunologically identical
-
M.P. Marinkovich P. Verrando D.R. Keene The basement membrane proteins kalinin and nicein are structurally and immunologically identical Lab Invest 69 1993 295 299
-
(1993)
Lab Invest
, vol.69
, pp. 295-299
-
-
Marinkovich, M.P.1
Verrando, P.2
Keene, D.R.3
-
50
-
-
0029121987
-
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
-
J.A. McGrath B. Gatalica A.M. Christiano Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa Nat Genet 11 1995 83 86
-
(1995)
Nat Genet
, vol.11
, pp. 83-86
-
-
McGrath, J.A.1
Gatalica, B.2
Christiano, A.M.3
-
51
-
-
0028919592
-
Altered laminin 5 expression due to mutations in the gene encoding the B3 chain in generalized atrophic benign epidermolysis bullosa
-
J.A. McGrath L. Pulkkinen A.M. Christiano Altered laminin 5 expression due to mutations in the gene encoding the B3 chain in generalized atrophic benign epidermolysis bullosa J Invest Dermatol 104 1995 467 474
-
(1995)
J Invest Dermatol
, vol.104
, pp. 467-474
-
-
McGrath, J.A.1
Pulkkinen, L.2
Christiano, A.M.3
-
52
-
-
9444272226
-
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
-
W.H. McLean L. Pulkkinen F.J. Smith Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization Genes Dev 10 1996 1724 1735
-
(1996)
Genes Dev
, vol.10
, pp. 1724-1735
-
-
McLean, W.H.1
Pulkkinen, L.2
Smith, F.J.3
-
53
-
-
0031930179
-
Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa
-
J.R. McMillan J.A. McGrath M.J. Tidman Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa J Invest Dermatol 110 1998 132 137
-
(1998)
J Invest Dermatol
, vol.110
, pp. 132-137
-
-
McMillan, J.R.1
McGrath, J.A.2
Tidman, M.J.3
-
54
-
-
0027106641
-
Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients
-
G. Meneguzzi M.P. Marinkovich D. Aberdam Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients Exp Dermatol 1 1992 221 229
-
(1992)
Exp Dermatol
, vol.1
, pp. 221-229
-
-
Meneguzzi, G.1
Marinkovich, M.P.2
Aberdam, D.3
-
55
-
-
0029983893
-
Establishment and characterization of cell line LSV5 that retains the altered adhesive properties of human junctional epidermolysis bullosa keratinocytes
-
C. Miquel L. Gagnoux-Palacios M. Durand-Clement Establishment and characterization of cell line LSV5 that retains the altered adhesive properties of human junctional epidermolysis bullosa keratinocytes Exp Cell Res 224 1996 279 290
-
(1996)
Exp Cell Res
, vol.224
, pp. 279-290
-
-
Miquel, C.1
Gagnoux-Palacios, L.2
Durand-Clement, M.3
-
56
-
-
0028176312
-
The α6 β4 integrin is a receptor for both laminin and kalinin
-
C.M. Niessen F. Hogervorst L.H. Jaspars The α6 β4 integrin is a receptor for both laminin and kalinin Exp Cell Res 211 1995 360 367
-
(1995)
Exp Cell Res
, vol.211
, pp. 360-367
-
-
Niessen, C.M.1
Hogervorst, F.2
Jaspars, L.H.3
-
57
-
-
40749110745
-
Human type VII collagen: cDNA cloning and chromosomal mapping of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa
-
M.G. Parente L.C. Chung J. Ryynanen Human type VII collagen: cDNA cloning and chromosomal mapping of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa Am J Hum Genet 24 1991 119 135
-
(1991)
Am J Hum Genet
, vol.24
, pp. 119-135
-
-
Parente, M.G.1
Chung, L.C.2
Ryynanen, J.3
-
58
-
-
0000010578
-
Studies on the pathogenesis of epidermolysis bullosa
-
R.W. Pearson Studies on the pathogenesis of epidermolysis bullosa J Invest Dermatol 39 1962 551 575
-
(1962)
J Invest Dermatol
, vol.39
, pp. 551-575
-
-
Pearson, R.W.1
-
59
-
-
0028180092
-
Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
-
L. Pulkkinen A.M. Christiano T. Airenne Mutations 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
-
60
-
-
0028568985
-
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
-
L. Pulkkinen A.M. Christiano D. Gerecke A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa Genomics 24 1994 357 360
-
(1994)
Genomics
, vol.24
, pp. 357-360
-
-
Pulkkinen, L.1
Christiano, A.M.2
Gerecke, D.3
-
61
-
-
0030742445
-
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
-
L. Pulkkinen G. Meneguzzi J.A. McGrath Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy J of Invest Dermatol 109 1997 232 237
-
(1997)
J of Invest Dermatol
, vol.109
, pp. 232-237
-
-
Pulkkinen, L.1
Meneguzzi, G.2
McGrath, J.A.3
-
62
-
-
0032489678
-
Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites
-
G.A. Rezniczek J.M. de Pereda S. Reipert Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites J Cell Biol 141 1998 209 225
-
(1998)
J Cell Biol
, vol.141
, pp. 209-225
-
-
Rezniczek, G.A.1
de Pereda, J.M.2
Reipert, S.3
-
63
-
-
0030855296
-
Laminin 5 binds the NC-1 domain of type VII collagen
-
P. Rousselle D.R. Keene F. Ruggiero Laminin 5 binds the NC-1 domain of type VII collagen J Cell Biol 138 1997 719 728
-
(1997)
J Cell Biol
, vol.138
, pp. 719-728
-
-
Rousselle, P.1
Keene, D.R.2
Ruggiero, F.3
-
64
-
-
0025879967
-
Kalinin: An epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments
-
P. Rousselle G.P. Lunstrum D.R. Keene Kalinin: An epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments J Cell Biol 114 1991 567 576
-
(1991)
J Cell Biol
, vol.114
, pp. 567-576
-
-
Rousselle, P.1
Lunstrum, G.P.2
Keene, D.R.3
-
65
-
-
0028172696
-
A functional “knockout” of human keratin 14
-
E.L. Rugg W.H. McLean E.B. Lane A functional “knockout” of human keratin 14 Genes Dev 8 1994 2563 2573
-
(1994)
Genes Dev
, vol.8
, pp. 2563-2573
-
-
Rugg, E.L.1
McLean, W.H.2
Lane, E.B.3
-
66
-
-
0030912738
-
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
-
L. Ruzzi L. Gagnoux-Palacios M. Pinola A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia J Clin Invest 99 1997 2826 2831
-
(1997)
J Clin Invest
, vol.99
, pp. 2826-2831
-
-
Ruzzi, L.1
Gagnoux-Palacios, L.2
Pinola, M.3
-
67
-
-
0026052915
-
Human bullous pemphigoid antigen (BPAG1): Amino acid sequence deduced from cloned cDNAs predicts biologically important peptide segments and protein domains
-
D.K. Sawamura K. Li M.-L. Chu Human bullous pemphigoid antigen (BPAG1): Amino acid sequence deduced from cloned cDNAs predicts biologically important peptide segments and protein domains J Biol Chem 266 1991 17784 17790
-
(1991)
J Biol Chem
, vol.266
, pp. 17784-17790
-
-
Sawamura, D.K.1
Li, K.2
Chu, M.-L.3
-
68
-
-
0032897775
-
BP180 gene delivery in junctional epidermolysis bullosa
-
C.S. Seitz G.J. Giudice S.D. Balding BP180 gene delivery in junctional epidermolysis bullosa Gene Therapy 6 1999 42 47
-
(1999)
Gene Therapy
, vol.6
, pp. 42-47
-
-
Seitz, C.S.1
Giudice, G.J.2
Balding, S.D.3
-
69
-
-
0031041675
-
Gastric outlet obstruction and epidermolysis bullosa
-
D.W. Shaw J.D. Fine D.J. Piacquadio Gastric outlet obstruction and epidermolysis bullosa J Am Acad Dermatol 36 2 Pt 2 1997 304 310
-
(1997)
J Am Acad Dermatol
, vol.36
, Issue.2 Pt 2
, pp. 304-310
-
-
Shaw, D.W.1
Fine, J.D.2
Piacquadio, D.J.3
-
70
-
-
0027430326
-
Ultrastructural findings in epidermolysis bullosa
-
L.T. Smith Ultrastructural findings in epidermolysis bullosa Arch Dermatol 129 1993 1578 1584
-
(1993)
Arch Dermatol
, vol.129
, pp. 1578-1584
-
-
Smith, L.T.1
-
71
-
-
0025117811
-
Intra-epdiermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa
-
L.T. Smith V.P. Sybert Intra-epdiermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa J Invest Dermatol 94 1990 261
-
(1990)
J Invest Dermatol
, vol.94
, pp. 261
-
-
Smith, L.T.1
Sybert, V.P.2
-
72
-
-
0025166474
-
Recessive dystrophic epidermolysis bullosa skin displays a chronic growth-activated immunophenotype
-
B.A. Smoller S. McNutt D.M. Carter Recessive dystrophic epidermolysis bullosa skin displays a chronic growth-activated immunophenotype Arch Dermatol 126 1900 78 83
-
(1900)
Arch Dermatol
, vol.126
, pp. 78-83
-
-
Smoller, B.A.1
McNutt, S.2
Carter, D.M.3
-
73
-
-
0025886308
-
Integrin α6β4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion
-
A. Sonnenberg J. Calafat H. Janssen Integrin α6β4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion J Cell Biol 113 1991 907 917
-
(1991)
J Cell Biol
, vol.113
, pp. 907-917
-
-
Sonnenberg, A.1
Calafat, J.2
Janssen, H.3
-
74
-
-
0027730471
-
Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses
-
P.M. Steinert J.M. Yang S.J. Bale Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses Biochem Biophys Res Commun 197 1993 840 848
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 840-848
-
-
Steinert, P.M.1
Yang, J.M.2
Bale, S.J.3
-
75
-
-
0021802802
-
Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique
-
M.J. Tidman R.A.J. Eady Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique J Invest Dermatol 84 1985 374 377
-
(1985)
J Invest Dermatol
, vol.84
, pp. 374-377
-
-
Tidman, M.J.1
Eady, R.A.J.2
-
76
-
-
0022631878
-
Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis
-
M.J. Tidman R.A.J. Eady Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis J Invest Dermatol 1986 51 56
-
(1986)
J Invest Dermatol
, pp. 51-56
-
-
Tidman, M.J.1
Eady, R.A.J.2
-
77
-
-
0027962337
-
Molecular basis of the dystrophic and junctional form of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin-5) genes
-
J. Uitto L. Pulkkinen A.M. Christiano Molecular basis of the dystrophic and junctional form of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin-5) genes J Invest Dermatol 103 1994 39S 45S
-
(1994)
J Invest Dermatol
, vol.103
, pp. 39S-45S
-
-
Uitto, J.1
Pulkkinen, L.2
Christiano, A.M.3
-
78
-
-
0029810901
-
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
-
J. Uttam E. Hutton P.A. Coulombe The genetic basis of epidermolysis bullosa simplex with mottled pigmentation Proc Natl Acad Sci U S A 93 1996 9079 9084
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 9079-9084
-
-
Uttam, J.1
Hutton, E.2
Coulombe, P.A.3
-
79
-
-
0028989243
-
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
-
F. Vidal D. Aberdam C. Miquel Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia Nat Genet 10 1995 229 234
-
(1995)
Nat Genet
, vol.10
, pp. 229-234
-
-
Vidal, F.1
Aberdam, D.2
Miquel, C.3
-
80
-
-
0027235676
-
Surgical treatment of contracture and syndactyly of children with epidermolysis bullosa
-
S.I. Vozdvizhensky V.I. Albanova Surgical treatment of contracture and syndactyly of children with epidermolysis bullosa Br J Plast Surg 46 1993 314 316
-
(1993)
Br J Plast Surg
, vol.46
, pp. 314-316
-
-
Vozdvizhensky, S.I.1
Albanova, V.I.2
|