-
2
-
-
0031580664
-
Direct cutaneous gene delivery in a human genetic skin disease
-
Choate KA, Khavari PA (1997) Direct cutaneous gene delivery in a human genetic skin disease. Hum Gene Ther 8:1659-65
-
(1997)
Hum Gene Ther
, vol.8
, pp. 1659-1665
-
-
Choate, K.A.1
Khavari, P.A.2
-
3
-
-
0029906097
-
Corrective gene transfer in the human skin disorder lamellar ichthyosis
-
DOI 10.1038/nm1196-1263
-
Choate KA, Medalie DA, Morgan JR et al. (1996) Corrective gene transfer in the human skin disorder lamellar ichthyosis. NatMed 2:1263-7 (Pubitemid 26375415)
-
(1996)
Nature Medicine
, vol.2
, Issue.11
, pp. 1263-1267
-
-
Choate, K.A.1
Medalie, D.A.2
Morgan, J.R.3
Khavari, P.A.4
-
4
-
-
62149121322
-
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
-
Farasat S, Wei MH, Herman M et al. (2009) Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 46:103-11
-
(2009)
J Med Genet
, vol.46
, pp. 103-111
-
-
Farasat, S.1
Wei, M.H.2
Herman, M.3
-
5
-
-
79954618280
-
Development of skin-humanized models of Pachyonychia Congenita
-
García M, Larcher F, Hickerson RP et al. (2011) Development of skin-humanized models of Pachyonychia Congenita. J Invest Dermatol 131:1053-60
-
(2011)
J Invest Dermatol
, vol.131
, pp. 1053-1060
-
-
García, M.1
Larcher, F.2
Hickerson, R.P.3
-
6
-
-
0036157925
-
Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1
-
DOI 10.1172/JCI200213563
-
Kuramoto N, Takizawa T, Takizawa T et al. (2002) Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest 109:243-50 (Pubitemid 34083744)
-
(2002)
Journal of Clinical Investigation
, vol.109
, Issue.2
, pp. 243-250
-
-
Kuramoto, N.1
Takizawa, T.2
Takizawa, T.3
Matsuki, M.4
Morioka, H.5
Robinson, J.M.6
Yamanishi, K.7
-
7
-
-
33644660687
-
Molecular cloning and expression of human keratinocyte proline-rich protein (hKPRP), an epidermal marker isolated from calcium-induced differentiating keratinocytes
-
Lee WH, Jang S, Lee JS et al. (2005) Molecular cloning and expression of human keratinocyte proline-rich protein (hKPRP), an epidermal marker isolated from calcium-induced differentiating keratinocytes. J Invest Dermatol 125:995-1000
-
(2005)
J Invest Dermatol
, vol.125
, pp. 995-1000
-
-
Lee, W.H.1
Jang, S.2
Lee, J.S.3
-
8
-
-
13144293126
-
Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)
-
DOI 10.1073/pnas.95.3.1044
-
Matsuki M, Yamashita F, Ishida-Yamamoto A et al. (1998) Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci 95:1044-9 (Pubitemid 28124909)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.3
, pp. 1044-1049
-
-
Matsuki, M.1
Yamashita, F.2
Ishida-Yamamoto, A.3
Yamada, K.4
Kinoshita, C.5
Fushiki, S.6
Ueda, E.7
Morishima, Y.8
Tabata, K.9
Yasuno, H.10
Hashida, M.11
Iizuka, H.12
Ikawa, M.13
Okabe, M.14
Kondoh, G.15
Kinoshita, T.16
Takeda, J.17
Yamanishi, K.18
-
9
-
-
33748333074
-
Ichthyoses: Differential diagnosis and molecular genetics
-
Oji V, Traupe H (2006) Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 16:349-59 (Pubitemid 44328973)
-
(2006)
European Journal of Dermatology
, vol.16
, Issue.4
, pp. 349-359
-
-
Oji, V.1
Traupe, H.2
-
11
-
-
77954165693
-
Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis
-
O'Shaughnessy RF, Choudhary I, Harper JI (2010) Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis. Hum Mol Genet 19:2594-605
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2594-2605
-
-
O'Shaughnessy, R.F.1
Choudhary, I.2
Harper, J.I.3
-
12
-
-
0032420576
-
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
-
Pigg M, Gedde-Dahl Jr T, Cox D et al. (1998) Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet 6:589-96 (Pubitemid 29020793)
-
(1998)
European Journal of Human Genetics
, vol.6
, Issue.6
, pp. 589-596
-
-
Pigg, M.1
Gedde-Dahl Jr., T.2
Cox, D.3
Hausser, I.4
Anton-Lamprecht, I.5
Dabi, N.6
-
13
-
-
0031664479
-
Small proline-rich proteins are cross-bridging proteins in the cornified cell envelopes of stratified squamous epithelia
-
DOI 10.1006/jsbi.1998.3957
-
Steinert PM, Candi E, Kartasova T et al. (1998) Small proline-rich proteins are cross-bridging proteins in the cornified cell envelopes of stratified squamous epithelia. J Struct Biol 122:76-85 (Pubitemid 28411186)
-
(1998)
Journal of Structural Biology
, vol.122
, Issue.1-2
, pp. 76-85
-
-
Steinert, P.M.1
Candi, E.2
Kartasova, T.3
Marekov, L.4
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