PMID: 8603923Mar 1, 1996Paper

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

The Journal of Cell Biology
R M PorterT M Magin

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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Citations

May 8, 2008·Histochemistry and Cell Biology·Roland MollLutz Langbein
Apr 25, 2003·Trends in Genetics : TIG·Rebecca M Porter, E Birgitte Lane
Aug 15, 2002·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Rong LiMichael Brenner
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Jun 10, 1998·The Journal of Investigative Dermatology·R M PorterE B Lane
Feb 17, 2001·The Journal of Investigative Dermatology·B PetersT M Magin
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Apr 23, 2014·The Journal of Investigative Dermatology·Heinz FischerLeopold Eckhart
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Jan 5, 2014·Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association·Tai-Long PanJia-You Fang

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