Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Andrea M. Dominey"'
1
Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia
Autor: Andrea M. Dominey, Mark A. Kay, Edward R. B. McCabe, Derek Jones, William J. Craigen, Hal K. Hawkins
Publikováno v: Journal of the American Academy of Dermatology. 33:323-326
Congenital adrenal hypoplasia has been estimated to occur in approximately 1 of 12,500 births. Hyperpigmentation associated with this condition typically appears gradually during a period of months to years. We describe a newborn infant with profound
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51de89c4f91b8596bf8813a2ae27f68f
https://doi.org/10.1016/0190-9622(95)91426-9
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3
Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis
Autor: Mary A. Longley, Dennis R. Roop, Marcel Huber, T. A. Gagne, Edgar Frenk, Andrea M. Dominey, Daniel Hohl, L. D. Dempsey, Joseph A. Rothnagel, David A. Greenhalgh
Publikováno v: Science. 257:1128-1130
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a9c241b5abb45b65cea121dbe368e94
https://doi.org/10.1126/science.257.5073.1128
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4
A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis
Autor: Dennis R. Roop, Joseph A. Rothnagel, Donnie S. Bundman, Paul E. Bowden, Andrea M. Dominey, Jackie R. Bickenbach, Mary A. Longley
Publikováno v: Differentiation; research in biological diversity. 61(2)
Keratins are the major structural proteins of keratinocytes, which are the most abundant cell type in the mammalian epidermis. Mutations in epidermal keratin genes have been shown to cause severe blistering skin abnormalities. One such disease, epide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4750825bafb9b1298c6bc78caf98d8df
https://pubmed.ncbi.nlm.nih.gov/8983179
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5
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma
Autor: Kristin M. Liefer, Marcel Huber, Dennis R. Roop, Sonja M. Wojcik, Joseph A. Rothnagel, Andrea M. Dominey, Daniel Hohl
Publikováno v: The Journal of investigative dermatology. 104(3)
Epidermolytic palmoplantar keratodenna is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles, Ultrastructurally the disease exhibits abnormal keratin filament nets works and tonofilament clumping like that foun
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e4c6113d3bbb4656b5d9267935f7a5
https://pubmed.ncbi.nlm.nih.gov/7532199
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6
Targeting gene expression to the epidermis of transgenic mice: potential applications to genetic skin disorders
Autor: Mary A. Longley, David A. Greenhalgh, Dennis R. Roop, Andrea M. Dominey, Joseph A. Rothnagel, Donnie S. Bundman
Publikováno v: The Journal of investigative dermatology. 95
The ability to specifically target gene expression to the epidermis of transgenic mice offers the exciting possibility of creating animal models of certain skin disorders that are inherited in man. It may be possible to produce mouse models of domina
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d062fafdea882c54a65c2ddb1f9bb5b6
https://pubmed.ncbi.nlm.nih.gov/16788636
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8
Transgenic Models of Skin Diseases
Autor: David A. Greenhalgh, Dennis R. Roop, Jackie R. Bickenbach, Xiaojing Wang, Joseph A. Rothnagel, Klaus Sellheyer, Andrea M. Dominey
Publikováno v: Archives of Dermatology. 129:1430
Background: Transgenic animals have greatly enhanced our understanding of the contribution of various structural and regulatory components to epidermal biology. The expression of mutant versions of these components in the epidermis of transgenic mice
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5d7769ce190e0d084593ef28b48de278
https://doi.org/10.1001/archderm.1993.01680320064009
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10
Purpura Fulminans and Transient Protein C and S Deficiency
Autor: Jaime A. Tschen, Anne H. Kettler, Jimmy Yiannias, Andrea M. Dominey
Publikováno v: Archives of Dermatology. 124:1442
To the Editor.— Purpura fulminans is characterized by purpura, disseminated intravascular coagulation, hypotension, and fever. Bacterial or viral infections usually precede its development. The exact pathogenesis is unknown, but a generalized Shwar
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6b98d9f03a70a6474c7058761746466c
https://doi.org/10.1001/archderm.1988.01670090084024
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