Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.

@article{Maass2004DefectiveEB,
  title={Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.},
  author={Karen Maass and Alexander Ghanem and Jung-sun Kim and Manuela Saathoff and Stephanie Urschel and Gregor Kirfel and Ruth Gr{\"u}mmer and Markus Kretz and Thorsten Lewalter and Klaus Tiemann and Elke Winterhager and Volker Herzog and Klaus Willecke},
  journal={Molecular biology of the cell},
  year={2004},
  volume={15 10},
  pages={
          4597-608
        }
}
More than 97% of mice in which the C-terminal region of connexin43 (Cx43) was removed (designated as Cx43K258stop) die shortly after birth due to a defect of the epidermal barrier. The abnormal expression of Cx43K258stop protein in the uppermost layers of the epidermis seems to perturb terminal differentiation of keratinocytes. In contrast to Cx43-deficient mice, neonatal Cx43K258stop hearts show no lethal obstruction of the right ventricular outflow tract, but signs of dilatation… CONTINUE READING

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Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)

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