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Science 22 November 1991:
Vol. 254. no. 5035, pp. 1202 - 1205
DOI: 10.1126/science.1720261
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Articles

Science, Vol 254, Issue 5035, 1202-1205
Copyright © 1991 by American Association for the Advancement of Science

articles

Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities

JM Bonifas, AL Rothman, and EH Epstein Jr

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

Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.


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Colorectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice..
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Genetic and Clinical Mosaicism in a Type of Epidermal Nevus.
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Y Chan, I Anton-Lamprecht, Q C Yu, A Jackel, B Zabel, J P Ernst, and E Fuchs (1994)
Genes & Dev. 8, 2574-2587
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Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
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The Molecular Genetics of Basement Membrane Diseases.
M. P. Marinkovich (1993)
Arch Dermatol 129, 1557-1565
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The Molecular Genetics of Dystrophic Epidermolysis Bullosa.
A. Hovnanian, A. M. Christiano, and J. Vitto (1993)
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Mutations in the Genes for Epidermal Keratins in Epidermolysis Bullosa and Epidermolytic Hyperkeratosis.
I. M. Leigh and E. B. Lane (1993)
Arch Dermatol 129, 1571-1577
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The Morbid Cutaneous Anatomy of the Human Genome.
E. H. Epstein Jr (1993)
Arch Dermatol 129, 1417-1423
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From the Clinic to the Research Laboratory: The Role of the Clinician in Molecular Genetic Studies.
S. E. Palmer and K. Stephens (1993)
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Transgenic Models of Skin Diseases.
J. A. Rothnagel, D. A. Greenhalgh, X.-J. Wang, K. Sellheyer, J. R. Bickenbach, A. M. Dominey, and D. R. Roop (1993)
Arch Dermatol 129, 1430-1436
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Mid-gestational lethality in mice lacking keratin 8..
H Baribault, J Price, K Miyai, and R G Oshima (1993)
Genes & Dev. 7, 1191-1202
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From Basket Weave to Barrier: Unifying Concepts for the Pathogenesis of the Disorders of Cornification.
M. L. Williams and P. M. Elias (1993)
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Anterior Corneal Disease of Epidermolysis Bullosa Simplex.
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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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Molecular genetics of epidermolysis bullosa.
E. Epstein Jr (1992)
Science 256, 799-804
   Abstract »    PDF »
A layer by layer look at the skin blister disease.
M Hoffman (1991)
Science 254, 1111-1112
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