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      Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis

      research-article
      The Journal of Cell Biology
      The Rockefeller University Press

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          Abstract

          Bullous congenital ichthyosiform erythroderma (BCIE) is a dominantly inherited blistering skin disorder caused by point mutations in the suprabasal cytokeratins 1 or 10. Targeting the murine cytokeratin 10 gene in ES cells resulted in mice with different phenotypes in the homozygotes and heterozygotes; both of which exhibit similarities to specific clinical characteristics of BCIE. Homozygotes suffered from severe skin fragility and died shortly after birth. Heterozygotes were apparently unaffected at birth, but developed hyperkeratosis with age. In both genotypes, aggregation of cytokeratin intermediate filaments, changes in cytokeratin expression, and alterations in the program of epidermal differentiation were observed. In addition we demonstrate, for the first time, the existence of the murine equivalent of human cytokeratin 16.

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          Author and article information

          Journal
          J Cell Biol
          The Journal of Cell Biology
          The Rockefeller University Press
          0021-9525
          1540-8140
          1 March 1996
          : 132
          : 5
          : 925-936
          Article
          96180285
          10.1083/jcb.132.5.925
          2120736
          8603923
          b729f6cc-5f66-4f60-9638-0d9312bb1118
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          Articles

          Cell biology
          Cell biology

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