Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

@article{Gruber2011FilaggrinGI,
  title={Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.},
  author={Robert Gruber and Peter M Elias and Debra C Crumrine and Tzu-Kai Lin and Johanna Maria Brandner and J P Hachem and Richard B. Presland and Philip H Fleckman and Andreas R Janecke and Aileen Sandilands and W H Irwin McLean and Peter O. Fritsch and Michael Mildner and Erwin Tschachler and Matthias Schmuth},
  journal={The American journal of pathology},
  year={2011},
  volume={178 5},
  pages={2252-63}
}
Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an intracellular protein, the barrier abnormality occurred solely via a paracellular route… CONTINUE READING

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