-
1
-
-
0033800831
-
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
-
Batta K, Rugg EL, Wilson NJ et al. (2000) A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. Br J Dermatol 143:621-7
-
(2000)
Br J Dermatol
, vol.143
, pp. 621-627
-
-
Batta, K.1
Rugg, E.L.2
Wilson, N.J.3
-
2
-
-
77949541758
-
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy
-
Bolling MC, Pas HH, de Visser M et al. (2010) PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol 130:1178-81
-
(2010)
J Invest Dermatol
, vol.130
, pp. 1178-1181
-
-
Bolling, M.C.1
Pas, H.H.2
De Visser, M.3
-
3
-
-
0026345962
-
Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
-
Bonifas JM, Rothman AL, Epstein EH Jr (1991) Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254:1202-5 (Pubitemid 21917453)
-
(1991)
Science
, vol.254
, Issue.5035
, pp. 1202-1205
-
-
Bonifas, J.M.1
Rothman, A.L.2
Epstein Jr., E.H.3
-
4
-
-
0029032462
-
Epitope mapping of monoclonal antibodies to keratin 19 using keratin fragments, synthetic peptides and phage peptide libraries
-
Böttger V, Stasiak PC, Harrison DL et al. (1995) Epitope mapping of monoclonal antibodies to keratin 19 using keratin fragments, synthetic peptides and phage peptide libraries. Eur J Biochem 231:475-85
-
(1995)
Eur J Biochem
, vol.231
, pp. 475-485
-
-
Böttger, V.1
Stasiak, P.C.2
Harrison, D.L.3
-
5
-
-
0027943989
-
A human keratin 14 "knockout" the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein
-
Chan Y, Anton-Lamprecht I, Yu QC et al. (1994) 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 8:2574-87
-
(1994)
Genes Dev
, vol.8
, pp. 2574-2587
-
-
Chan, Y.1
Anton-Lamprecht, I.2
Yu, Q.C.3
-
6
-
-
0027327669
-
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex
-
Chan YM, Yu QC, Fine JD et al. (1993) The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90:7414-8
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 7414-7418
-
-
Chan, Y.M.1
Yu, Q.C.2
Fine, J.D.3
-
7
-
-
0025861772
-
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
-
Coulombe PA, Hutton ME, Letai A et al. (1991) Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66:1301-11 (Pubitemid 121001418)
-
(1991)
Cell
, vol.66
, Issue.6
, pp. 1301-1311
-
-
Coulombe, P.A.1
Hutton, M.E.2
Letai, A.3
Hebert, A.4
Paller, A.S.5
Fuchs, E.6
-
8
-
-
4444265587
-
Functional improvement of mutant keratin cells on addition of desmin: An alternative approach to gene therapy for dominant diseases
-
DOI 10.1038/sj.gt.3302301
-
D'Alessandro M, Morley SM, Ogden PH et al. (2004) Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases. Gene Ther 11:1290-5 (Pubitemid 39173436)
-
(2004)
Gene Therapy
, vol.11
, Issue.16
, pp. 1290-1295
-
-
D'Alessandro, M.1
Morley, S.M.2
Ogden, P.H.3
Liovic, M.4
Porter, R.M.5
Lane, E.B.6
-
9
-
-
0037112998
-
Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock
-
DOI 10.1242/jcs.00120
-
D'Alessandro M, Russell D, Morley SM et al. (2002) Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock. J Cell Sci 115:4341-51 (Pubitemid 35460704)
-
(2002)
Journal of Cell Science
, vol.115
, Issue.22
, pp. 4341-4351
-
-
D'Alessandro, M.1
Russell, D.2
Morley S.M. Susan, M.3
Davies, A.M.4
Lane, E.B.5
-
10
-
-
1642398229
-
Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa
-
DOI 10.1111/j.1365-2230.2004.01428.x
-
Fine JD, Johnson LB, Weiner M et al. (2004) Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol 29:122-7 (Pubitemid 38367191)
-
(2004)
Clinical and Experimental Dermatology
, vol.29
, Issue.2
, pp. 122-127
-
-
Fine, J.-D.1
Johnson, L.B.2
Weiner, M.3
Suchindran, C.4
-
11
-
-
0032567493
-
The type I keratin 19 possesses distinct and context-dependent assembly properties
-
DOI 10.1074/jbc.273.52.35176
-
Fradette J, Germain L, Seshaiah P et al. (1998) The type I keratin 19 possesses distinct and context-dependent assembly properties. J Biol Chem 273: 35176-84 (Pubitemid 29028222)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.52
, pp. 35176-35184
-
-
Fradette, J.1
Germain, L.2
Seshaiah, P.3
Coulombe, P.A.4
-
12
-
-
69249229546
-
SiRNA silencing of keratinocyte-specific GFP expression in a transgenic mouse skin model
-
Gonzalez-Gonzalez E, Ra H, Hickerson RP et al. (2009) siRNA silencing of keratinocyte-specific GFP expression in a transgenic mouse skin model. Gene Ther 16:963-72
-
(2009)
Gene Ther
, vol.16
, pp. 963-972
-
-
Gonzalez-Gonzalez, E.1
Ra, H.2
Hickerson, R.P.3
-
13
-
-
0023706144
-
Monoclonal antibody mapping of keratins 8 and 17 and of vimentin in normal human mammary gland, benign tumors, dysplasias and breast cancer
-
Guelstein VI, Tchypysheva TA, Ermilova VD et al. (1988) Monoclonal antibody mapping of keratins 8 and 17 and of vimentin in normal human mammary gland, benign tumors, dysplasias and breast cancer. Int J Cancer 42:147-53
-
(1988)
Int J Cancer
, vol.42
, pp. 147-153
-
-
Guelstein, V.I.1
Tchypysheva, T.A.2
Ermilova, V.D.3
-
14
-
-
0023660926
-
Cytokeratin domains involved in heterotypic complex formation determined by in-vitro binding assays
-
Hatzfeld M, Maier G, Franke WW (1987) Cytokeratin domains involved in heterotypic complex formation determined by in-vitro binding assays. J Mol Biol 197:237-55
-
(1987)
J Mol Biol
, vol.197
, pp. 237-255
-
-
Hatzfeld, M.1
Maier, G.2
Franke, W.W.3
-
15
-
-
33845622386
-
SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita
-
DOI 10.1196/annals.1348.059, Oligonucleotide Therapeutics: First Annual Meeting of the Oligonucleotide Therapeutics Society
-
Hickerson RP, Smith FJ, McLean WH et al. (2006) SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita. Ann NY Acad Sci 1082:56-61 (Pubitemid 44955450)
-
(2006)
Annals of the New York Academy of Sciences
, vol.1082
, pp. 56-61
-
-
Hickerson, R.P.1
Smith, F.J.D.2
McLean, W.H.I.3
Landthaler, M.4
Leube, R.E.5
Kaspar, R.L.6
-
16
-
-
0026577999
-
Identification of a new hemidesmosomal protein, HD1: A major, high molecular mass component of isolated hemidesmosomes
-
Hieda Y, Nishizawa Y, Uematsu J et al. (1992) Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes. J Cell Biol 116:1497-506
-
(1992)
J Cell Biol
, vol.116
, pp. 1497-1506
-
-
Hieda, Y.1
Nishizawa, Y.2
Uematsu, J.3
-
17
-
-
0036156170
-
Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex
-
DOI 10.1046/j.0022-202x.2001.01617.x
-
Huber M, Floeth M, Borradori L et al. (2002) Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. J Invest Dermatol 118:185-92 (Pubitemid 34107441)
-
(2002)
Journal of Investigative Dermatology
, vol.118
, Issue.1
, pp. 185-192
-
-
Huber, M.1
Floeth, M.2
Borradori, L.3
Schacke, H.4
Rugg, E.L.5
Lane, E.B.6
Frenk, E.7
Hohl, D.8
Bruckner-Tuderman, L.9
-
18
-
-
13344282732
-
Generalized atrophic benign epidermolysis bullosa: Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency
-
DOI 10.1001/archderm.132.2.145
-
Jonkman MF, de Jong MC, Heeres K et al. (1996a) Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol 132:145-50 (Pubitemid 26058502)
-
(1996)
Archives of Dermatology
, vol.132
, Issue.2
, pp. 145-150
-
-
Jonkman, M.F.1
De Jong, M.C.J.M.2
Heeres, K.3
Steijlen, P.M.4
Owaribe, K.5
Kuster, W.6
Meurer, M.7
Gedde-Dahl Jr., T.8
Sonnenberg, A.9
Bruckner-Tuderman, L.10
-
19
-
-
10344262023
-
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
-
Jonkman MF, Heeres K, Pas HH et al. (1996b) Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 107:764-9 (Pubitemid 26371095)
-
(1996)
Journal of Investigative Dermatology
, vol.107
, Issue.5
, pp. 764-769
-
-
Jonkman, M.F.1
Heeres, K.2
Pas, H.H.3
Van Luyn, M.J.A.4
Elema, J.D.5
Corden, L.D.6
Smith, F.J.D.7
McLean, W.H.I.8
Ramaekers, F.C.S.9
Burton, M.10
Scheffer, H.11
-
20
-
-
0036911668
-
Deletion of a cytoplasmic domain of integrin β4 causes epidermolysis bullosa simplex
-
DOI 10.1046/j.1523-1747.2002.19609.x
-
Jonkman MF, Pas HH, Nijenhuis M et al. (2002) Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. J Invest Dermatol 119:1275-81 (Pubitemid 36005609)
-
(2002)
Journal of Investigative Dermatology
, vol.119
, Issue.6
, pp. 1275-1281
-
-
Jonkman, M.F.1
Pas, H.H.2
Nijenhuis, M.3
Kloosterhuis, G.4
Van Der Steege, G.5
-
22
-
-
0029833422
-
Episomal vectors rapidly and stably produce high-titer recombinant retrovirus
-
Kinsella TM, Nolan GP (1996) Episomal vectors rapidly and stably produce high-titer recombinant retrovirus. Hum Gene Ther 7:1405-13 (Pubitemid 26293560)
-
(1996)
Human Gene Therapy
, vol.7
, Issue.12
, pp. 1405-1413
-
-
Kinsella, T.M.1
Nolan, G.P.2
-
23
-
-
0036151350
-
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations
-
DOI 10.1046/j.0022-202x.2001.01591.x
-
Koss-Harnes D, Høyheim B, Anton-Lamprecht I et al. (2002) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol 118:87-93 (Pubitemid 34107428)
-
(2002)
Journal of Investigative Dermatology
, vol.118
, Issue.1
, pp. 87-93
-
-
Koss-Harnes, D.1
Hoyheim, B.2
Anton-Lamprecht, I.3
Gjesti, A.4
Jorgensen, R.S.5
Jahnsen, F.L.6
Olaisen, B.7
Wiche, G.8
Gedde-Dahl Jr., T.9
-
24
-
-
0037733977
-
Antisense technologies: Improvement through novel chemical modifications
-
DOI 10.1046/j.1432-1033.2003.03555.x
-
Kurreck J (2003) Antisense technologies. Improvement through novel chemical modifications. Eur J Biochem 270:1628-44 (Pubitemid 36532522)
-
(2003)
European Journal of Biochemistry
, vol.270
, Issue.8
, pp. 1628-1644
-
-
Kurreck, J.1
-
25
-
-
0025447631
-
Use of keratin antibodies in tumor diagnosis
-
Lane EB, Alexander CM (1990) Use of keratin antibodies in tumor diagnosis. Semin Cancer Biol 1:165-79
-
(1990)
Semin Cancer Biol
, vol.1
, pp. 165-179
-
-
Lane, E.B.1
Alexander, C.M.2
-
26
-
-
0026545645
-
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
-
Lane EB, Rugg EL, Navsaria H et al. (1992) A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356:244-6
-
(1992)
Nature
, vol.356
, pp. 244-246
-
-
Lane, E.B.1
Rugg, E.L.2
Navsaria, H.3
-
27
-
-
0026403958
-
Stem cells in hair follicles Cytoskeletal studies
-
Lane EB, Wilson CA, Hughes BR et al. (1991) Stem cells in hair follicles. Cytoskeletal studies. Ann NY Acad Sci 642:197-213
-
(1991)
Ann NY Acad Sci
, vol.642
, pp. 197-213
-
-
Lane, E.B.1
Wilson, C.A.2
Hughes, B.R.3
-
28
-
-
0037272577
-
A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner
-
DOI 10.1046/j.1365-2230.2003.01218.x
-
Lanschuetzer CM, Klausegger A, Pohla-Gubo G et al. (2003) A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Kobner. Clin Exp Dermatol 28:77-9 (Pubitemid 36197570)
-
(2003)
Clinical and Experimental Dermatology
, vol.28
, Issue.1
, pp. 77-79
-
-
Lanschuetzer, C.M.1
Klausegger, A.2
Pohla-Gubo, G.3
Hametner, R.4
Richard, G.5
Uitto, J.6
Hintner, H.7
Bauer, J.W.8
-
29
-
-
48049103228
-
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
-
Leachman SA, Hickerson RP, Hull PR et al. (2008) Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci 51:151-7
-
(2008)
J Dermatol Sci
, vol.51
, pp. 151-157
-
-
Leachman, S.A.1
Hickerson, R.P.2
Hull, P.R.3
-
30
-
-
0027503398
-
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex
-
Letai A, Coulombe PA, McCormick MB et al. (1993) Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90:3197-201 (Pubitemid 23111332)
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.8
, pp. 3197-3201
-
-
Letai, A.1
Coulombe, P.A.2
McCormick, M.B.3
Yu, Q.-C.4
Hutton, E.5
Fuchs, E.6
-
31
-
-
70349453949
-
Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratino-cytes
-
Liovic M, D'Alessandro M, Tomic-Canic M et al. (2009) Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratino-cytes. Exp Cell Res 315:2995-3003
-
(2009)
Exp Cell Res
, vol.315
, pp. 2995-3003
-
-
Liovic, M.1
D'Alessandro, M.2
Tomic-Canic, M.3
-
32
-
-
44749083355
-
Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines
-
Liovic M, Lee B, Tomic-Canic M et al. (2008) Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines. Exp Cell Res 314:2066-75
-
(2008)
Exp Cell Res
, vol.314
, pp. 2066-2075
-
-
Liovic, M.1
Lee, B.2
Tomic-Canic, M.3
-
33
-
-
0027283720
-
Network incorporation of intermediate filament molecules differs between preexisting and newly assembling filaments
-
DOI 10.1006/excr.1993.1240
-
Lu X, Quinlan RA, Steel JB et al. (1993) Network incorporation of intermediate filament molecules differs between preexisting and newly assembling filaments. Exp Cell Res 208:218-25 (Pubitemid 23274507)
-
(1993)
Experimental Cell Research
, vol.208
, Issue.1
, pp. 218-225
-
-
Lu, X.1
Quinlan, R.A.2
Steel, J.B.3
Lane, E.B.4
-
34
-
-
9444272226
-
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
-
McLean WH, Pulkkinen L, Smith FJ et al. (1996) Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 10:1724-35 (Pubitemid 26272379)
-
(1996)
Genes and Development
, vol.10
, Issue.14
, pp. 1724-1735
-
-
Irwin McLean, W.H.1
Pulkkinen, L.2
Smith, F.J.D.3
Rugg, E.L.4
Lane, E.B.5
Bullrich, F.6
Burgeson, R.E.7
Amano, S.8
Hudson, D.L.9
Owaribe, K.10
McGrath, J.A.11
McMillan, J.R.12
Eady, R.A.J.13
Leigh, I.M.14
Christiano, A.M.15
Uitto, J.16
-
35
-
-
0029970965
-
Keratin 19 as a biochemical marker of skin stem cells in vivo and in vitro: Keratin 19 expressing cells are differentially localized in function of anatomic sites, and their number varies with donor age and culture stage
-
Michel M, Torok N, Godbout MJ et al. (1996) Keratin 19 as a biochemical marker of skin stem cells in vivo and in vitro: keratin 19 expressing cells are differentially localized in function of anatomic sites, and their number varies with donor age and culture stage. J Cell Sci 109(Part 5):1017-28
-
(1996)
J Cell Sci
, vol.109
, Issue.PART 5
, pp. 1017-1028
-
-
Michel, M.1
Torok, N.2
Godbout, M.J.3
-
36
-
-
0042635660
-
Generation and characterization of epidermolysis bullosa simplex cell lines: Scratch assays show faster migration with disruptive keratin mutations
-
DOI 10.1046/j.1365-2133.2003.05493.x
-
Morley SM, D'Alessandro M, Sexton C et al. (2003) Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations. Br J Dermatol 149:46-58 (Pubitemid 36966510)
-
(2003)
British Journal of Dermatology
, vol.149
, Issue.1
, pp. 46-58
-
-
Morley, S.M.1
D'Alessandro, M.2
Sexton, C.3
Rugg, E.L.4
Navsaria, H.5
Shemanko, C.S.6
Huber, M.7
Hohl, D.8
Heagerty, A.I.9
Leigh, I.M.10
Lane, E.B.11
-
37
-
-
0028881133
-
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients
-
Morley SM, Dundas SR, James JL et al. (1995) Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients. J Cell Sci 108(Part 11):3463-71
-
(1995)
J Cell Sci
, vol.108
, Issue.PART 11
, pp. 3463-3471
-
-
Morley, S.M.1
Dundas, S.R.2
James, J.L.3
-
38
-
-
4944266746
-
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen
-
DOI 10.1111/j.1365-2133.2004.06041.x
-
Pasmooij AM, van der Steege G, Pas HH et al. (2004) Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. Br J Dermatol 151:669-74 (Pubitemid 39330894)
-
(2004)
British Journal of Dermatology
, vol.151
, Issue.3
, pp. 669-674
-
-
Pasmooij, A.M.G.1
Van Der Steege, G.2
Pas, H.H.3
Sillevis Smitt, J.H.4
Nijenhuis, A.M.5
Zuider Veen, J.6
Jonkman, M.F.7
-
40
-
-
0037407006
-
Phenotypes, genotypes and their contribution to understanding keratin function
-
DOI 10.1016/S0168-9525(03)00071-4
-
Porter RM, Lane EB (2003) Phenotypes, genotypes and their contribution to understanding keratin function. Trends Genet 19:278-85 (Pubitemid 36507010)
-
(2003)
Trends in Genetics
, vol.19
, Issue.5
, pp. 278-285
-
-
Porter, R.M.1
Lane, E.B.2
-
41
-
-
0025534004
-
Antibody markers of basal cells in complex epithelia
-
Purkis PE, Steel JB, Mackenzie IC et al. (1990) Antibody markers of basal cells in complex epithelia. J Cell Sci 97(Part 1):39-50 (Pubitemid 120023244)
-
(1990)
Journal of Cell Science
, vol.97
, Issue.1
, pp. 39-50
-
-
Purkis, P.E.1
Steel, J.B.2
Mackenzie, I.C.3
Nathrath, W.B.J.4
Leigh, I.M.5
Lane, E.B.6
-
43
-
-
0028172696
-
A functional "knockout" of human keratin 14
-
Rugg EL, McLean WH, Lane EB et al. (1994) A functional "knockout" of human keratin 14. Genes Dev 8:2563-73
-
(1994)
Genes Dev
, vol.8
, pp. 2563-2573
-
-
Rugg, E.L.1
McLean, W.H.2
Lane, E.B.3
-
44
-
-
9444225484
-
Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes
-
DOI 10.1242/jcs.01407
-
Russell D, Andrews PD, James J et al. (2004) Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes. J Cell Sci 117:5233-43 (Pubitemid 39562486)
-
(2004)
Journal of Cell Science
, vol.117
, Issue.22
, pp. 5233-5243
-
-
Russell, D.1
Andrews, P.D.2
James, J.3
Lane, E.B.4
-
45
-
-
76649114657
-
ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin
-
Russell D, Ross H, Lane EB (2010) ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin. J Invest Dermatol 130: 671-81
-
(2010)
J Invest Dermatol
, vol.130
, pp. 671-681
-
-
Russell, D.1
Ross, H.2
Lane, E.B.3
-
47
-
-
0036226320
-
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex
-
DOI 10.1046/j.1523-1747.2002.01715.x
-
Schuilenga-Hut PH, Scheffer H, Pas HH et al. (2002) Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol 118:626-30 (Pubitemid 34309981)
-
(2002)
Journal of Investigative Dermatology
, vol.118
, Issue.4
, pp. 626-630
-
-
Schuilenga-Hut, P.H.L.1
Scheffer, H.2
Pas, H.H.3
Nijenhuis, M.4
Buys, C.H.C.M.5
Jonkman, M.F.6
-
48
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
DOI 10.1038/ng0896-450
-
Smith FJ, Eady RA, Leigh IM et al. (1996) Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 13:450-7 (Pubitemid 26256619)
-
(1996)
Nature Genetics
, vol.13
, Issue.4
, pp. 450-457
-
-
Smith, F.J.D.1
Eady, R.A.J.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
Milana, G.11
De Bono, A.G.12
Owaribe, K.13
Wiche, G.14
Pulkkinen, L.15
Uitto, J.16
McLean, W.H.I.17
Lane, E.B.18
-
49
-
-
0024324903
-
Keratin 19: Predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratins
-
Stasiak PC, Purkis PE, Leigh IM et al. (1989) Keratin 19: predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratins. J Invest Dermatol 92:707-16 (Pubitemid 19143620)
-
(1989)
Journal of Investigative Dermatology
, vol.92
, Issue.5
, pp. 707-716
-
-
Stasiak, P.C.1
Purkis, P.E.2
Leigh, I.M.3
Lane, E.B.4
-
50
-
-
78149237578
-
K14 mRNA reprogramming for dominant epidermolysis bullosa simplex
-
Wally V, Brunner M, Lettner T et al. (2010) K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. Hum Mol Genet 19: 4715-25
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4715-4725
-
-
Wally, V.1
Brunner, M.2
Lettner, T.3
-
51
-
-
4644371368
-
Gene therapy progress and prospects: Electroporation and other physical methods
-
DOI 10.1038/sj.gt.3302337
-
Wells DJ (2004) Gene therapy progress and prospects: electroporation and other physical methods. Gene Ther 11:1363-9 (Pubitemid 39263889)
-
(2004)
Gene Therapy
, vol.11
, Issue.18
, pp. 1363-1369
-
-
Wells, D.J.1
-
52
-
-
53349109026
-
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14
-
Yiasemides E, Trisnowati N, Su J et al. (2008) Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14. Clin Exp Dermatol 33:689-97
-
(2008)
Clin Exp Dermatol
, vol.33
, pp. 689-697
-
-
Yiasemides, E.1
Trisnowati, N.2
Su, J.3
|