-
1
-
-
0023545331
-
The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines
-
Albers K, Fuchs E. 1987. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J Cell Biol 105: 791-806.
-
(1987)
J Cell Biol
, vol.105
, pp. 791-806
-
-
Albers, K.1
Fuchs, E.2
-
2
-
-
0030803336
-
Delayed postburn blisters: An immunohistochemical and ultrastructural study
-
Bergman R, David R, Ramon Y, Ramon M, Kerner H, Kilim S, Peled I, Friedman-Birnbaum R. 1997. Delayed postburn blisters: an immunohistochemical and ultrastructural study. Cutan Pathol 24: 429-433.
-
(1997)
Cutan Pathol
, vol.24
, pp. 429-433
-
-
Bergman, R.1
David, R.2
Ramon, Y.3
Ramon, M.4
Kerner, H.5
Kilim, S.6
Peled, I.7
Friedman-Birnbaum, R.8
-
3
-
-
0026345962
-
Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
-
Bonifas JM, Rothman AL, Epstein EH. 1991. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254: 1202-1205.
-
(1991)
Science
, vol.254
, pp. 1202-1205
-
-
Bonifas, J.M.1
Rothman, A.L.2
Epstein, E.H.3
-
4
-
-
0030455978
-
Human keratin diseases: Hereditary fragility of specific epithelial tissues
-
Corden LD, McLean WHI. 1996. Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 5: 297-307.
-
(1996)
Exp Dermatol
, vol.5
, pp. 297-307
-
-
Corden, L.D.1
McLean, W.H.I.2
-
5
-
-
7144257875
-
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
-
Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH. 1998. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat 11: 279-285.
-
(1998)
Hum Mutat
, vol.11
, pp. 279-285
-
-
Corden, L.D.1
Mellerio, J.E.2
Gratian, M.J.3
Eady, R.A.4
Harper, J.I.5
Lacour, M.6
Magee, G.7
Lane, E.B.8
McGrath, J.A.9
McLean, W.H.10
-
6
-
-
0025861772
-
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
-
Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E. 1991. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66: 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
-
7
-
-
0343659999
-
Genodermatoses
-
Brock D, Rodeck CH, Ferguson-Smith M (eds). Churchill Livingstone: Edinburgh
-
Eady RAJ. 1992. Genodermatoses. In Prenatal Diagnosis and Screening, Brock D, Rodeck CH, Ferguson-Smith M (eds). Churchill Livingstone: Edinburgh; 503-513.
-
(1992)
Prenatal Diagnosis and Screening
, pp. 503-513
-
-
Eady, R.A.J.1
-
8
-
-
0031715041
-
A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex
-
Galligan P, Listwan P, Siller GM, Rothnagel JA. 1998. A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. J Invest Dermatol 111: 524-527.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 524-527
-
-
Galligan, P.1
Listwan, P.2
Siller, G.M.3
Rothnagel, J.A.4
-
9
-
-
0021007795
-
Amino acid sequence data on glial fibrillary acidic protein (GFA); implications for the subdivision of intermediate filaments into epithelial and non-epithelial members
-
Geisler N, Weber K. 1983. Amino acid sequence data on glial fibrillary acidic protein (GFA); implications for the subdivision of intermediate filaments into epithelial and non-epithelial members. EMBO J 2: 2059-2063.
-
(1983)
EMBO J
, vol.2
, pp. 2059-2063
-
-
Geisler, N.1
Weber, K.2
-
10
-
-
0025882273
-
Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain
-
Hatzfeld M, Weber K. 1991. Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J Cell Sci 99: 351-362.
-
(1991)
J Cell Sci
, vol.99
, pp. 351-362
-
-
Hatzfeld, M.1
Weber, K.2
-
11
-
-
0034021678
-
The clinical spectrum of epidermolysis bullosa simplex
-
in press
-
Horn HM, Tidman MJ. The clinical spectrum of epidermolysis bullosa simplex. Brit J Dermatol in press.
-
Brit J Dermatol
-
-
Horn, H.M.1
Tidman, M.J.2
-
12
-
-
0030890858
-
A mutation in the VI domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation
-
Irvine AD, McKenna KE, Jenkinson H, Hughes AE. 1997a. A mutation in the VI domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 108: 809-810.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 809-810
-
-
Irvine, A.D.1
McKenna, K.E.2
Jenkinson, H.3
Hughes, A.E.4
-
13
-
-
0031434675
-
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
-
Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE. 1997b. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J Invest Dermatol 109: 815-816.
-
(1997)
J Invest Dermatol
, vol.109
, pp. 815-816
-
-
Irvine, A.D.1
McKenna, K.E.2
Bingham, A.3
Nevin, N.C.4
Hughes, A.E.5
-
14
-
-
0026545645
-
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
-
Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AHM, Ishida-Yamamoto A, Eady RAJ. 1992. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356: 244-246.
-
(1992)
Nature
, vol.356
, pp. 244-246
-
-
Lane, E.B.1
Rugg, E.L.2
Navsaria, H.3
Leigh, I.M.4
Heagerty, A.H.M.5
Ishida-Yamamoto, A.6
Eady, R.A.J.7
-
15
-
-
0026511054
-
Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations
-
Letai A, Coulombe PA, Fuchs E. 1992. Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 116: 1181-1195.
-
(1992)
J Cell Biol
, vol.116
, pp. 1181-1195
-
-
Letai, A.1
Coulombe, P.A.2
Fuchs, E.3
-
16
-
-
0031767288
-
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
-
Muller FB, Kuster W, Bruckner-Tuderman L, Korge BP. 1998. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. J Invest Dermatol 111: 900-902.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 900-902
-
-
Muller, F.B.1
Kuster, W.2
Bruckner-Tuderman, L.3
Korge, B.P.4
-
17
-
-
0009723970
-
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
-
Muller FB, Anton-Lamprecht I, Kuster W, Korge BP. 1999. A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. J Invest Dermatol 112: 988-990.
-
(1999)
J Invest Dermatol
, vol.112
, pp. 988-990
-
-
Muller, F.B.1
Anton-Lamprecht, I.2
Kuster, W.3
Korge, B.P.4
-
18
-
-
9344267213
-
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex
-
Nomura K, Shimizu H, Meng XM, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I. 1996. A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 107: 253-254.
-
(1996)
J Invest Dermatol
, vol.107
, pp. 253-254
-
-
Nomura, K.1
Shimizu, H.2
Meng, X.M.3
Umeki, K.4
Tamai, K.5
Sawamura, D.6
Nagao, K.7
Kawakami, T.8
Nishikawa, T.9
Hashimoto, I.10
-
20
-
-
0032962193
-
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling Meara epidermolysis bullosa simplex
-
Rugg EL, Rachet-Prehu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A. 1999. Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling Meara epidermolysis bullosa simplex. Eur J Hum Genet 7: 293-300.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 293-300
-
-
Rugg, E.L.1
Rachet-Prehu, M.O.2
Rochat, A.3
Barrandon, Y.4
Goossens, M.5
Lane, E.B.6
Hovnanian, A.7
-
21
-
-
0032738414
-
A recurrent keratin 14 mutation in Dowling Meara epidermolysis bullosa simplex
-
Sasaki Y, Shimizu H, Akiyama M, Hiraoka Y, Takizawa Y, Yamada S, Morishima Y, Yamanishi K, Aiso S, Nishikawa T. 1999. A recurrent keratin 14 mutation in Dowling Meara epidermolysis bullosa simplex. Br J Dermatol 141: 747-748.
-
(1999)
Br J Dermatol
, vol.141
, pp. 747-748
-
-
Sasaki, Y.1
Shimizu, H.2
Akiyama, M.3
Hiraoka, Y.4
Takizawa, Y.5
Yamada, S.6
Morishima, Y.7
Yamanishi, K.8
Aiso, S.9
Nishikawa, T.10
-
22
-
-
0026512912
-
PASA is a general method for rapid detection of known single-base changes
-
Sommer SS, Groszbach AR, Bottema CDK. 1992. PASA is a general method for rapid detection of known single-base changes. Biotechniques 12: 82-87.
-
(1992)
Biotechniques
, vol.12
, pp. 82-87
-
-
Sommer, S.S.1
Groszbach, A.R.2
Bottema, C.D.K.3
-
23
-
-
0032948791
-
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
-
Sorensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N. 1999. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol 112: 184-190.
-
(1999)
J Invest Dermatol
, vol.112
, pp. 184-190
-
-
Sorensen, C.B.1
Ladekjaer-Mikkelsen, A.S.2
Andresen, B.S.3
Brandrup, F.4
Veien, N.K.5
Buus, S.K.6
Anton-Lamprecht, I.7
Kruse, T.A.8
Jensen, P.K.9
Eiberg, H.10
Bolund, L.11
Gregersen, N.12
-
24
-
-
0027316910
-
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling Meara: Implication for diagnosis
-
Stephens K, Sybert VP, Wijsman EM, Erlich P, Spencer A. 1993. A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling Meara: implication for diagnosis. J Ivest Dermatol 101: 240-243.
-
(1993)
J Ivest Dermatol
, vol.101
, pp. 240-243
-
-
Stephens, K.1
Sybert, V.P.2
Wijsman, E.M.3
Erlich, P.4
Spencer, A.5
-
25
-
-
0031052765
-
Primers for exon-specific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patients
-
Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert V. 1997. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 108: 349-353.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 349-353
-
-
Stephens, K.1
Ehrlich, P.2
Weaver, M.3
Le, R.4
Spencer, A.5
Sybert, V.6
-
26
-
-
0027233020
-
Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12
-
Wanner R, Forster H-H, Tilmans I, Mischke D. 1993. Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. J Ivest Dermatol 100: 735-741.
-
(1993)
J Ivest Dermatol
, vol.100
, pp. 735-741
-
-
Wanner, R.1
Forster, H.-H.2
Tilmans, I.3
Mischke, D.4
-
27
-
-
0025013886
-
Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M
-
Wong PC, Cleveland DW. 1990. Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M. J Cell Biol 111: 1987-2003.
-
(1990)
J Cell Biol
, vol.111
, pp. 1987-2003
-
-
Wong, P.C.1
Cleveland, D.W.2
|