-
1
-
-
43449084027
-
The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB
-
Fine, J.D., Eady, R.A., Bauer, E.A., Bauer, J.W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M.F., Leigh, I. et al. (2008) The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J. Am. Acad. Dermatol., 58, 931-950.
-
(2008)
J. Am. Acad. Dermatol.
, vol.58
, pp. 931-950
-
-
Fine, J.D.1
Eady, R.A.2
Bauer, E.A.3
Bauer, J.W.4
Bruckner-Tuderman, L.5
Heagerty, A.6
Hintner, H.7
Hovnanian, A.8
Jonkman, M.F.9
Leigh, I.10
-
3
-
-
1542283819
-
Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin Subunits
-
Werner, N.S., Windorffer, R., Strnad, P., Grund, C., Leube, R.E. and Magin, T.M. (2004) Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin Subunits. Mol. Biol. Cell, 15, 990-1002.
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 990-1002
-
-
Werner, N.S.1
Windorffer, R.2
Strnad, P.3
Grund, C.4
Leube, R.E.5
Magin, T.M.6
-
4
-
-
0022272938
-
Patterns of expression and organization of cytokeratin intermediate filaments
-
Quinlan, R.A., Franke, W.W., Magin, T.M., Jorcano, J.L., Moll, R., Achtstätter, T., Hatzfeld, M. and Schiller, D.L. (1985) Patterns of expression and organization of cytokeratin intermediate filaments. Ann. NY Acad. Sci., 455, 282-306.
-
(1985)
Ann. NY Acad. Sci.
, vol.455
, pp. 282-306
-
-
Quinlan, R.A.1
Franke, W.W.2
Magin, T.M.3
Jorcano, J.L.4
Moll, R.5
Achtstätter, T.6
Hatzfeld, M.7
Schiller, D.L.8
-
5
-
-
44149099717
-
The human keratins: biology and pathology
-
Moll, R., Divo, M. and Langbein, L. (2008) The human keratins: biology and pathology. Histochem. Cell Biol., 129, 705-733.
-
(2008)
Histochem. Cell Biol.
, vol.129
, pp. 705-733
-
-
Moll, R.1
Divo, M.2
Langbein, L.3
-
6
-
-
0037275640
-
Keratins: a structural scaffold with emerging functions
-
Kirfel, J., Magin, T.M. and Reichelt, J. (2003) Keratins: a structural scaffold with emerging functions. Cell. Mol. Life Sci., 60, 56-71.
-
(2003)
Cell. Mol. Life Sci.
, vol.60
, pp. 56-71
-
-
Kirfel, J.1
Magin, T.M.2
Reichelt, J.3
-
7
-
-
68849091625
-
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
-
Coulombe, P.A., Kerns, M.L. and Fuchs, E. (2009) Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J. Clin. Invest., 119, 1784-1793.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 1784-1793
-
-
Coulombe, P.A.1
Kerns, M.L.2
Fuchs, E.3
-
8
-
-
0037387857
-
Mutation analysis of the entire keratin 5 and keratin 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
-
Schuilenga-Hut, P.H., Scheffer, H., Buys, C.H., Waanders, E., Jonkman, M.F. and Vlies, P. (2003) Mutation analysis of the entire keratin 5 and keratin 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum. Mutat., 21, 447-455.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 447-455
-
-
Schuilenga-Hut, P.H.1
Scheffer, H.2
Buys, C.H.3
Waanders, E.4
Jonkman, M.F.5
Vlies, P.6
-
9
-
-
0037112998
-
Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock
-
D'Alessandro, M., Russell, D., Morley, S.M., Davies, A.M. and Lane, E.B. (2002) Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock. J. Cell Sci., 115, 4341-4351.
-
(2002)
J. Cell Sci.
, vol.115
, pp. 4341-4351
-
-
D'Alessandro, M.1
Russell, D.2
Morley, S.M.3
Davies, A.M.4
Lane, E.B.5
-
10
-
-
0042635660
-
Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations
-
Morley, S.M., D'Alessandro, M., Sexton, C., Rugg, E.L., Navsaria, H., Shemanko, C.S., Huber, M., Hohl, D., Heagerty, A.I., Leigh, I.M. 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.
-
(2003)
Br. J. Dermatol.
, vol.149
, 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
-
11
-
-
58149345037
-
Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006
-
Fine, J.D., Johnson, L.B., Weiner, M., Li, K.P. and Suchindran, C. (2009) Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J. Am. Acad. Dermatol., 60, 203-211.
-
(2009)
J. Am. Acad. Dermatol.
, vol.60
, pp. 203-211
-
-
Fine, J.D.1
Johnson, L.B.2
Weiner, M.3
Li, K.P.4
Suchindran, C.5
-
12
-
-
76649114657
-
ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin
-
Russell, D., Ross, H. and Lane, E.B. (2010) ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin. J. Invest. Dermatol., 130, 671-681.
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 671-681
-
-
Russell, D.1
Ross, H.2
Lane, E.B.3
-
13
-
-
71049190003
-
Dominant negative effects of COL7A1 mutations can be rescued by controlled over-expression of normal collagen VII
-
Fritsch, A., Spassov, S., Elfert, S., Schlosser, A., Gache, Y., Meneguzzi, G. and Bruckner-Tuderman, L. (2009) Dominant negative effects of COL7A1 mutations can be rescued by controlled over-expression of normal collagen VII. J. Biol. Chem., 284, 30248-30256.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 30248-30256
-
-
Fritsch, A.1
Spassov, S.2
Elfert, S.3
Schlosser, A.4
Gache, Y.5
Meneguzzi, G.6
Bruckner-Tuderman, L.7
-
14
-
-
0035809198
-
An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy
-
Cao, T.Y., Longley, M.A., Wang, X.J. and Roop, D.R. (2001) An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy. J. Cell Biol., 152, 651-656.
-
(2001)
J. Cell Biol.
, vol.152
, pp. 651-656
-
-
Cao, T.Y.1
Longley, M.A.2
Wang, X.J.3
Roop, D.R.4
-
15
-
-
0032993842
-
Spliceosome-mediated RNA trans-splicing as a tool for gene therapy
-
Puttaraju, M., Jamison, S.F., Mansfield, S.G., Garcia-Blanco, M.A. and Mitchell, L.G. (1999) Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat. Biotechnol., 17, 246-252.
-
(1999)
Nat. Biotechnol.
, vol.17
, pp. 246-252
-
-
Puttaraju, M.1
Jamison, S.F.2
Mansfield, S.G.3
Garcia-Blanco, M.A.4
Mitchell, L.G.5
-
16
-
-
0043175257
-
Development of spliceosome-mediated RNA trans-splicing (SMaRT (TM)) for the correction of inherited skin diseases
-
Dallinger, G., Puttaraju, M., Mitchell, L.G., Yancey, K.B., Yee, C., Klausegger, A., Hintner, H. and Bauer, J.W. (2003) Development of spliceosome-mediated RNA trans-splicing (SMaRT (TM)) for the correction of inherited skin diseases. Exp. Dermatol., 12, 37-46.
-
(2003)
Exp. Dermatol.
, vol.12
, pp. 37-46
-
-
Dallinger, G.1
Puttaraju, M.2
Mitchell, L.G.3
Yancey, K.B.4
Yee, C.5
Klausegger, A.6
Hintner, H.7
Bauer, J.W.8
-
17
-
-
0033674357
-
Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing
-
Mansfield, S.G., Kole, J., Puttaraju, M., Yang, C.C., Garcia-Blanco, M.A., Cohn, J.A. and Mitchell, L.G. (2000) Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing. Gene Ther., 7, 1885-1895.
-
(2000)
Gene Ther.
, vol.7
, pp. 1885-1895
-
-
Mansfield, S.G.1
Kole, J.2
Puttaraju, M.3
Yang, C.C.4
Garcia-Blanco, M.A.5
Cohn, J.A.6
Mitchell, L.G.7
-
18
-
-
0141743742
-
5′ exon replacement and repair by spliceosome-mediated RNA trans-splicing
-
Mansfield, S.G., Clark, R.H., Puttaraju, M., Kole, J., Cohn, J.A., Mitchell, L.G. and Garcia-Blanco, M.A. (2003) 5′ exon replacement and repair by spliceosome-mediated RNA trans-splicing. RNA, 9, 1290-1297.
-
(2003)
RNA
, vol.9
, pp. 1290-1297
-
-
Mansfield, S.G.1
Clark, R.H.2
Puttaraju, M.3
Kole, J.4
Cohn, J.A.5
Mitchell, L.G.6
Garcia-Blanco, M.A.7
-
19
-
-
4043179784
-
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency
-
Tahara, M., Pergolizzi, R.G., Kobayashi, H., Krause, A., Luettich, K., Lesser, M.L. and Crystal, R.G. (2004) Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. Nat. Med., 10, 835-841.
-
(2004)
Nat. Med.
, vol.10
, pp. 835-841
-
-
Tahara, M.1
Pergolizzi, R.G.2
Kobayashi, H.3
Krause, A.4
Luettich, K.5
Lesser, M.L.6
Crystal, R.G.7
-
20
-
-
0042388694
-
Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing
-
Chao, H., Mansfield, S.G., Bartel, R.C., Hiriyanna, S., Mitchell, L.G., Garcia-Blanco, M.A. and Walsh, C.E. (2003) Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. Nat. Med., 9, 1015-1019.
-
(2003)
Nat. Med.
, vol.9
, pp. 1015-1019
-
-
Chao, H.1
Mansfield, S.G.2
Bartel, R.C.3
Hiriyanna, S.4
Mitchell, L.G.5
Garcia-Blanco, M.A.6
Walsh, C.E.7
-
21
-
-
0036137663
-
Partial correction of endogenous Delta F508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing
-
Liu, X.M., Jiang, Q.S., Mansfield, S.G., Puttaraju, M., Zhang, Y.L., Zhou, W.H., Cohn, J.A., Garcia-Blanco, M.A., Mitchell, L.G. and Engelhardt, J.F. (2002) Partial correction of endogenous Delta F508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. Nat. Biotechnol., 20, 47-52.
-
(2002)
Nat. Biotechnol.
, vol.20
, pp. 47-52
-
-
Liu, X.M.1
Jiang, Q.S.2
Mansfield, S.G.3
Puttaraju, M.4
Zhang, Y.L.5
Zhou, W.H.6
Cohn, J.A.7
Garcia-Blanco, M.A.8
Mitchell, L.G.9
Engelhardt, J.F.10
-
22
-
-
39149136181
-
5′ trans-splicing repair of the PLEC1 gene
-
Wally, V., Klausegger, A., Koller, U., Lochmuller, H., Krause, S., Wiche, G., Mitchell, L.G., Hintner, H. and Bauer, J.W. (2008) 5′ trans-splicing repair of the PLEC1 gene. J. Invest. Dermatol., 128, 568-574.
-
(2008)
J. Invest. Dermatol.
, vol.128
, pp. 568-574
-
-
Wally, V.1
Klausegger, A.2
Koller, U.3
Lochmuller, H.4
Krause, S.5
Wiche, G.6
Mitchell, L.G.7
Hintner, H.8
Bauer, J.W.9
-
23
-
-
68749092850
-
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing
-
Rodriguez-Martin, T., Anthony, K., Garcia-Blanco, M.A., Mansfield, S.G., Anderton, B.H. and Gallo, J.M. (2009) Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. Hum. Mol. Genet., 18, 3266-3273.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 32663273
-
-
Rodriguez-Martin, T.1
Anthony, K.2
Garcia-Blanco, M.A.3
Mansfield, S.G.4
Anderton, B.H.5
Gallo, J.M.6
-
24
-
-
1342346544
-
An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex
-
Yoneda, K., Furukawa, T., Zheng, Y., Momoi, T., Izawa, I., Inagaki, M., Manabe, M. and Inagaki, N. (2004) An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex. J. Biol. Chem., 279, 7296-7303.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 7296-7303
-
-
Yoneda, K.1
Furukawa, T.2
Zheng, Y.3
Momoi, T.4
Izawa, I.5
Inagaki, M.6
Manabe, M.7
Inagaki, N.8
-
25
-
-
65749110883
-
Small silencing RNAs: state-of-the-art
-
Grimm, D. (2009) Small silencing RNAs: state-of-the-art. Adv. Drug Deliv. Rev., 61, 672-703.
-
(2009)
Adv. Drug Deliv. Rev.
, vol.61
, pp. 672-703
-
-
Grimm, D.1
-
26
-
-
33745299723
-
Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways
-
Grimm, D., Streetz, K.L., Jopling, C.L., Storm, T.A., Pandey, K., Davis, C.R., Marion, P., Salazar, F. and Kay, M.A. (2006) Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways. Nature, 441, 537-541.
-
(2006)
Nature
, vol.441
, pp. 537-541
-
-
Grimm, D.1
Streetz, K.L.2
Jopling, C.L.3
Storm, T.A.4
Pandey, K.5
Davis, C.R.6
Marion, P.7
Salazar, F.8
Kay, M.A.9
-
27
-
-
78650297492
-
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa
-
(May 19, 2010). 10.1038/jid. 2010.249
-
Murauer, E.M., Gache, Y., Gratz, I.K., Klausegger, A., Muss, W., Gruber, C., Meneguzzi, G., Hintner, H. and Bauer, J.W. (2010) Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J. Invest. Dermatol., (May 19, 2010). 10.1038/jid.2010.249.
-
(2010)
J. Invest. Dermatol.
-
-
Murauer, E.M.1
Gache, Y.2
Gratz, I.K.3
Klausegger, A.4
Muss, W.5
Gruber, C.6
Meneguzzi, G.7
Hintner, H.8
Bauer, J.W.9
-
28
-
-
55649102490
-
Development of a single vector system that enhances trans-splicing of SMN2 transcripts
-
Coady, T.H., Baughan, T.D., Shababi, M., Passini, M.A. and Lorson, C.L. (2008) Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS ONE, 3, e3468.
-
(2008)
PLoS ONE
, vol.3
-
-
Coady, T.H.1
Baughan, T.D.2
Shababi, M.3
Passini, M.A.4
Lorson, C.L.5
-
29
-
-
78149271164
-
Epigenetic profiling of human keratinocytes
-
Szeverenyi, I., Eng, G.H., Lunny, D.P. and Lane, B. (2009) Epigenetic profiling of human keratinocytes. J. Invest. Dermatol., 129, S50.
-
(2009)
J. Invest. Dermatol.
, vol.129
-
-
Szeverenyi, I.1
Eng, G.H.2
Lunny, D.P.3
Lane, B.4
-
30
-
-
44749083355
-
Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines
-
Liovic, M., Lee, B., Tomic-Canic, M., D'Alessandro, M., Bolshakov, V.N. and Lane, B. (2008) Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines. Exp. Cell Res., 314, 2066-2075.
-
(2008)
Exp. Cell Res.
, vol.314
, pp. 2066-2075
-
-
Liovic, M.1
Lee, B.2
Tomic-Canic, M.3
D'Alessandro, M.4
Bolshakov, V.N.5
Lane, B.6
-
31
-
-
36248998854
-
Induction of inflammatory cytokines by a keratin mutation and their repression by a small molecule in a mouse model for EBS
-
Lu, H., Chen, J., Planko, L., Zigrino, P., Klein-Hitpass, L. and Magin, T.M. (2007) Induction of inflammatory cytokines by a keratin mutation and their repression by a small molecule in a mouse model for EBS. J. Invest. Dermatol., 127, 2781-2789.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 2781-2789
-
-
Lu, H.1
Chen, J.2
Planko, L.3
Zigrino, P.4
Klein-Hitpass, L.5
Magin, T.M.6
-
32
-
-
0035006210
-
Keratins and the keratinocyte activation cycle
-
Freedberg, I.M., Tomic-Canic, M., Komine, M. and Blumenberg, M. (2001) Keratins and the keratinocyte activation cycle. J. Invest. Dermatol., 116, 633-640.
-
(2001)
J. Invest. Dermatol.
, vol.116
, pp. 633-640
-
-
Freedberg, I.M.1
Tomic-Canic, M.2
Komine, M.3
Blumenberg, M.4
-
33
-
-
34247252481
-
A functional enhancer of keratin14 is a direct transcriptional target of Delta Np63
-
Romano, R.A., Birkaya, B. and Sinha, S. (2007) A functional enhancer of keratin14 is a direct transcriptional target of Delta Np63. J. Invest. Dermatol., 127, 1175-1186.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 1175-1186
-
-
Romano, R.A.1
Birkaya, B.2
Sinha, S.3
-
34
-
-
0034103619
-
Defining the regulatory factors required for epidermal gene expression
-
Sinha, S., Degenstein, L., Copenhaver, C. and Fuchs, E. (2000) Defining the regulatory factors required for epidermal gene expression. Mol. Cell. Biol., 20, 2543-2555.
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 2543-2555
-
-
Sinha, S.1
Degenstein, L.2
Copenhaver, C.3
Fuchs, E.4
-
35
-
-
9444225484
-
Mechanical stress induces profound remodelling of keraitin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes
-
Russell, D., Andrews, P.D., James, J. and Lane, E.B. (2004) Mechanical stress induces profound remodelling of keraitin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes. J. Cell Sci., 117, 5233-5243.
-
(2004)
J. Cell Sci.
, vol.117
, pp. 5233-5243
-
-
Russell, D.1
Andrews, P.D.2
James, J.3
Lane, E.B.4
-
36
-
-
70349453949
-
Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes
-
Liovic, M., D'Alessandro, M., Tomic-Canic, M., Bolshakov, V.N., Coats, S.E. and Lane, E.B. (2009) Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes. 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
Bolshakov, V.N.4
Coats, S.E.5
Lane, E.B.6
-
37
-
-
33845524625
-
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells
-
Mavilio, F., Pellegrini, G., Ferrari, S., Di Nunzio, F., Di Iorio, E., Recchia, A., Maruggi, G., Farrari, G., Provasi, E., Bonini, C. et al. (2006) Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat. Med., 12, 1397-1402.
-
(2006)
Nat. Med.
, vol.12
, pp. 1397-1402
-
-
Mavilio, F.1
Pellegrini, G.2
Ferrari, S.3
Di Nunzio, F.4
Di Iorio, E.5
Recchia, A.6
Maruggi, G.7
Farrari, G.8
Provasi, E.9
Bonini, C.10
|