-
1
-
-
0020031469
-
Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis
-
Anton-Lamprecht I, Schnyder UW (1982) Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermato-logica 164:221-35 (Pubitemid 12155232)
-
(1982)
Dermatologica
, vol.164
, Issue.4
, pp. 221-235
-
-
Anton-Lamprecht, I.1
Schnyder, U.W.2
-
2
-
-
80052852301
-
Allele-specific siRNA therapy for epidermolysis bullosa simplex
-
Atkinson S, McGilligan VE, Liao H et al. (2010) Allele-specific siRNA therapy for epidermolysis bullosa simplex. Br J Dermatol 162:926
-
(2010)
Br J Dermatol
, vol.162
, pp. 926
-
-
Atkinson, S.1
McGilligan, V.E.2
Liao, H.3
-
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 254:1202-5 (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
-
-
33751099034
-
RNAi therapeutics: A potential new class of pharmaceutical drugs
-
DOI 10.1038/nchembio839, PII NCHEMBIO839
-
Bumcrot D, Manoharan M, Koteliansky V et al. (2006) RNAi therapeutics: a potential new class of pharmaceutical drugs. Nat Chem Biol 2:711-9 (Pubitemid 44764213)
-
(2006)
Nature Chemical Biology
, vol.2
, Issue.12
, pp. 711-719
-
-
Bumcrot, D.1
Manoharan, M.2
Koteliansky, V.3
Sah, D.W.Y.4
-
5
-
-
0035809198
-
An inducible mouse model for epidermolysis bullosa simplex: Implications for gene therapy
-
Cao T, Longley MA, Wang X-J et al. (2001) An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy. J Cell Biol 152:651-6 (Pubitemid 34280246)
-
(2001)
Journal of Cell Biology
, vol.153
, Issue.3
, pp. 651-656
-
-
Cao, T.1
Longley, M.A.2
Wang, X.-J.3
Roop, D.R.4
-
6
-
-
0035859929
-
Specific inhibition of gene expression by small double-stranded RNAs in invertebrate and vertebrate systems
-
DOI 10.1073/pnas.171251798
-
Caplen NJ, Parrish S, Imani F et al. (2001) Specific inhibition of gene expression by small double-stranded RNAs in invertebrate and vertebrate systems. Proc Natl Acad Sci USA 98:9742-7 (Pubitemid 32769374)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.17
, pp. 9742-9747
-
-
Caplen, N.J.1
Parrish, S.2
Imani, F.3
Fire, A.4
Morgan, R.A.5
-
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 analysis. 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
-
-
33746228119
-
Knocking down Disease with siRNAs
-
DOI 10.1016/j.cell.2006.07.007, PII S0092867406009007
-
Dykxhoorn DM, Lieberman J (2006) Knocking down disease with siRNAs. Cell 126:231-5 (Pubitemid 44092975)
-
(2006)
Cell
, vol.126
, Issue.2
, pp. 231-235
-
-
Dykxhoorn, D.M.1
Lieberman, J.2
-
9
-
-
33645826719
-
Determinants of specific RNA interference-mediated silencing of human beta-globin alleles differing by a single nucleotide polymorphism
-
Dykxhoorn DM, Schlehuber LD, London IM et al. (2006) Determinants of specific RNA interference-mediated silencing of human beta-globin alleles differing by a single nucleotide polymorphism. Proc Natl Acad Sci USA 103:5953-8
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 5953-5958
-
-
Dykxhoorn, D.M.1
Schlehuber, L.D.2
London, I.M.3
-
10
-
-
0035942736
-
Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells
-
DOI 10.1038/35078107
-
Elbashir SM, Harborth J, Lendeckel W et al. (2001) Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411:494-8 (Pubitemid 32494397)
-
(2001)
Nature
, vol.411
, Issue.6836
, pp. 494-498
-
-
Elbashir, S.M.1
Harborth, J.2
Lendeckel, W.3
Yalcin, A.4
Weber, K.5
Tuschl, T.6
-
11
-
-
43449084027
-
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
-
Fine JD, Eady RA, Bauer EA 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 58:931-50
-
(2008)
J Am Acad Dermatol
, vol.58
, pp. 931-950
-
-
Fine, J.D.1
Eady, R.A.2
Bauer, E.A.3
-
12
-
-
71049190003
-
Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII
-
Fritsch A, Spassov S, Elfert S et al. (2009) Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. J Biol Chem 284:30248-56
-
(2009)
J Biol Chem
, vol.284
, pp. 30248-30256
-
-
Fritsch, A.1
Spassov, S.2
Elfert, S.3
-
13
-
-
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 FJD, McLean WHI et al. (2006) SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita. Ann N Y 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
-
14
-
-
39149111247
-
Single-nucleotide-specific siRNA targeting in a dominant-negative skin model
-
DOI 10.1038/sj.jid.5701060, PII 5701060
-
Hickerson RP, Smith FJD, Reeves RE et al. (2008) Single-nucleotide- specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol 128:594-605 (Pubitemid 351252662)
-
(2008)
Journal of Investigative Dermatology
, vol.128
, Issue.3
, pp. 594-605
-
-
Hickerson, R.P.1
Smith, F.J.D.2
Reeves, R.E.3
Contag, C.H.4
Leake, D.5
Leachman, S.A.6
Milstone, L.M.7
McLean, W.H.I.8
Kaspar, R.L.9
-
16
-
-
15844400283
-
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland
-
DOI 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M
-
Humphries MM, Mansergh FC, Kiang AS et al. (1996) Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland. Hum Mutat 8:57-63 (Pubitemid 26238970)
-
(1996)
Human Mutation
, vol.8
, Issue.1
, pp. 57-63
-
-
Humphries, M.M.1
Mansergh, F.C.2
Kiang, A.-S.3
Jordan, S.A.4
Sheils, D.M.5
Martin, M.J.6
Farrar, G.J.7
Kenna, P.F.8
Young, M.M.9
Humphries, P.10
-
17
-
-
0032965997
-
Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
-
DOI 10.1046/j.1365-2133.1999.02810.x
-
Irvine AD, McLean WHI (1999) Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 140:815-28 (Pubitemid 29238452)
-
(1999)
British Journal of Dermatology
, vol.140
, Issue.5
, pp. 815-828
-
-
Irvine, A.D.1
McLean, W.H.I.2
-
18
-
-
0025992821
-
Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14
-
Ishida-Yamamoto A, McGrath JA, Chapman SJ et al. (1991) Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin filament network involving keratins K5 and K14. J Invest Dermatol 97:959-68
-
(1991)
J Invest Dermatol
, vol.97
, pp. 959-968
-
-
Ishida-Yamamoto, A.1
McGrath, J.A.2
Chapman, S.J.3
-
20
-
-
32944464372
-
Challenges in developing therapies for rare diseases including pachyonychia congenita
-
Kaspar RL (2005) Challenges in developing therapies for rare diseases including pachyonychia congenita. J Investig Dermatol Symp Proc 10:62-6
-
(2005)
J Investig Dermatol Symp Proc
, vol.10
, pp. 62-66
-
-
Kaspar, R.L.1
-
21
-
-
70349755570
-
Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium
-
Kaspar RL, McLean WH, Schwartz ME (2009) Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium. J Invest Dermatol 129:2085-7
-
(2009)
J Invest Dermatol
, vol.129
, pp. 2085-2087
-
-
Kaspar, R.L.1
McLean, W.H.2
Schwartz, M.E.3
-
22
-
-
67349156412
-
Broken bricks and cracked mortar: Epidermal diseases resulting from genetic abnormalities
-
Lane EB, McLean WHI (2008) Broken bricks and cracked mortar: epidermal diseases resulting from genetic abnormalities. Drug Discov Today 5:e93-e101
-
(2008)
Drug Discov Today
, vol.5
-
-
Lane, E.B.1
Whi, M.2
-
23
-
-
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
-
24
-
-
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
-
25
-
-
76349084709
-
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder
-
Leachman SA, Hickerson RP, Schwartz ME et al. (2010) First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther 18:442-6
-
(2010)
Mol Ther
, vol.18
, pp. 442-446
-
-
Leachman, S.A.1
Hickerson, R.P.2
Schwartz, M.E.3
-
26
-
-
80052866713
-
Mutation-specific siRNA therapy for epidermolysis bullosa simplex
-
McGilligan VE, Atkinson S, Liao H et al. (2010) Mutation-specific siRNA therapy for epidermolysis bullosa simplex. J Invest Dermatol 130:S91
-
(2010)
J Invest Dermatol
, vol.130
-
-
McGilligan, V.E.1
Atkinson, S.2
Liao, H.3
-
27
-
-
0035089987
-
Epidermolysis bullosa carrier frequencies in the US population [9]
-
DOI 10.1046/j.1523-1747.2001.01279-11.x
-
Pfendner E, Uitto J, Fine JD (2001) Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol 116:483-4 (Pubitemid 32202923)
-
(2001)
Journal of Investigative Dermatology
, vol.116
, Issue.3
, pp. 483-484
-
-
Pfendner, E.1
Uitto, J.2
Fine, J.-D.3
-
28
-
-
33847014854
-
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations
-
Rugg EL, Horn HM, Smith FJ et al. (2007) Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. J Invest Dermatol 127:574-80
-
(2007)
J Invest Dermatol
, vol.127
, pp. 574-580
-
-
Rugg, E.L.1
Horn, H.M.2
Smith, F.J.3
-
29
-
-
0034001780
-
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential
-
DOI 10.1046/j.1365-2133.2000.03304.x
-
Shemanko CS, Horn HM, Keohane SG et al. (2000) Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. Br J Dermatol 142:315-20 (Pubitemid 30117704)
-
(2000)
British Journal of Dermatology
, vol.142
, Issue.2
, pp. 315-320
-
-
Shemanko, C.S.1
Horn, H.M.2
Keohane, S.G.3
Hepburn, N.4
Kerr, A.I.G.5
Atherton, D.J.6
Tidman, M.J.7
Lane, E.B.8
-
30
-
-
0036031235
-
Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse
-
DOI 10.1016/S0006-291X(02)02288-X, PII S0006291X0202288X
-
Smith FJD, Porter RM, Corden LD et al. (2002) Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse. Biochem Biophys Res Commun 297:818-27 (Pubitemid 35237990)
-
(2002)
Biochemical and Biophysical Research Communications
, vol.297
, Issue.4
, pp. 818-827
-
-
Smith, F.J.D.1
Porter, R.M.2
Corden, L.D.3
Lunny, D.P.4
Birgitte Lane, E.5
Irwin McLean, W.H.6
-
31
-
-
40549123948
-
The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases
-
DOI 10.1002/humu.20652
-
Szeverenyi I, Cassidy AJ, Chung CW et al. (2008) The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum Mutat 29:351-60 (Pubitemid 351364936)
-
(2008)
Human Mutation
, vol.29
, Issue.3
, pp. 351-360
-
-
Szeverenyi, I.1
Cassidy, A.J.2
Cheuk, W.C.3
Lee, B.T.K.4
Common, J.E.A.5
Ogg, S.C.6
Chen, H.7
Shu, Y.S.8
Goh, W.L.P.9
Kee, W.N.10
Simpson, J.A.11
Li, L.C.12
Goi, H.E.13
Li, B.14
Lunny, D.P.15
Chuon, D.16
Venkatesh, A.17
Kian, H.K.18
McLean, W.H.I.19
Yun, P.L.20
Lane, E.B.21
more..
-
32
-
-
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
-
33
-
-
9144256376
-
SiRNA-based inhibition specific for mutant SOD1 with single nucleotide alternation in familial ALS, compared with ribozyme and DNA enzyme
-
DOI 10.1016/j.bbrc.2003.12.098
-
Yokota T, Miyagishi M, Hino T et al. (2004) siRNA-based inhibition specific for mutant SOD1 with single nucleotide alternation in familial ALS, compared with ribozyme and DNA enzyme. Biochem Biophys Res Commun 314:283-91 (Pubitemid 38058398)
-
(2004)
Biochemical and Biophysical Research Communications
, vol.314
, Issue.1
, pp. 283-291
-
-
Yokota, T.1
Miyagishi, M.2
Hino, T.3
Matsumura, R.4
Andrea, T.5
Urushitani, M.6
Rao, R.V.7
Takahashi, R.8
Bredesen, D.E.9
Taira, K.10
Mizusawa, H.11
|