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Science 8 May 1992:
Vol. 256. no. 5058, pp. 799 - 804
DOI: 10.1126/science.256.5058.799
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Articles

Science, Vol 256, Issue 5058, 799-804
Copyright © 1992 by American Association for the Advancement of Science

articles

Molecular genetics of epidermolysis bullosa

EH Epstein Jr

University of California, San Francisco, San Francisco General Hospital 94110.

Blisters following minor trauma characterize epidermolysis bullosa, a group of hereditary diseases of the skin. In the simplex type, epidermal basal cells are fragile, and mutations of genes encoding keratin intermediate filament proteins underlie that fragility. In the dystrophic types, the causative mutation appears to be in the gene encoding type VII collagen, which is the major component of anchoring fibrils. These recent findings afford solid evidence that at least one function of the cytoskeletal intermediate filament network is the provision of mechanical stability and that anchoring fibrils indeed do anchor the epidermis to the underlying dermis.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength.
A. C. Huen, J. K. Park, L. M. Godsel, X. Chen, L. J. Bannon, E. V. Amargo, T. Y. Hudson, A. K. Mongiu, I. M. Leigh, D. P. Kelsell, et al. (2002)
J. Cell Biol. 159, 1005-1017
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Fragile skeletal muscle attachments in dystrophic mutants of Caenorhabditis elegans: isolation and characterization of the mua genes.
J. Plenefisch, X Zhu, and E. Hedgecock (2000)
Development 127, 1197-1207
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The Use of Tissue-Engineered Skin (Apligraf) to Treat a Newborn With Epidermolysis Bullosa.
A. F. Falabella, L. A. Schachner, I. C. Valencia, and W. H. Eaglstein (1999)
Arch Dermatol 135, 1219-1222
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Extent of Laminin-5 Assembly and Secretion Effect Junctional Epidermolysis Bullosa Phenotype.
C. Matsui, P. Pereira, C. K. Wang, C. F. Nelson, T. Kutzkey, C. Lanigan, D. Woodley, M. Morohashi, E. A. Welsh, and W. K. Hoeffler (1998)
J. Exp. Med. 187, 1273-1283
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Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization..
W H McLean, L Pulkkinen, F J Smith, E L Rugg, E B Lane, F Bullrich, R E Burgeson, S Amano, D L Hudson, K Owaribe, et al. (1996)
Genes & Dev. 10, 1724-1735
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Bart's Syndrome: Ultrastructure and Genetic Linkage.
B. Zelickson, K. Matsumura, D. Kist, E. H. Epstein Jr, and B. J. Bart (1995)
Arch Dermatol 131, 663-668
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The Molecular Genetics of Dystrophic Epidermolysis Bullosa.
A. Hovnanian, A. M. Christiano, and J. Vitto (1993)
Arch Dermatol 129, 1566-1570
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Keratinocyte Gene Therapy.
J. C. Vogel (1993)
Arch Dermatol 129, 1478-1483
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Pathological Cases of the Month.
C. R. Abramowsky and E. Gilbert-Barness (1993)
Arch Pediatr Adolesc Med 147, 207-208
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Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis.
J. A. Rothnagel, A. M. Dominey, L. D. Dempsey, M. A. Longley, D. A. Greenhalgh, T. A. Gagne, M. Huber, E. Frenk, D. Hohl, and D. R. Roop (1992)
Science 257, 1128-1130
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