Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

@article{Owens2004HumanK8,
  title={Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.},
  author={Dewi W Owens and Neil J. Wilson and Alison M. Hill and Elizabeth Rugg and Rebecca M. Porter and Aileen M. Hutcheson and Roy A Quinlan and David A van Heel and M. B. A. Parkes and Derek P. Jewell and Stephen S Campbell and Sankar Ghosh and Jack Satsangi and E. Birgitte Lane},
  journal={Journal of cell science},
  year={2004},
  volume={117 Pt 10},
  pages={1989-99}
}
We have identified miss-sense mutations in keratin 8 in a subset of patients with inflammatory bowel disease (Crohn disease and ulcerative colitis). Inflammatory bowel diseases are a group of disorders that are polygenic in origin and involve intestinal epithelial breakdown. We investigated the possibility that these keratin mutations might contribute to the course of the disease by adversely affecting the keratin filament network that provides mechanical support to cells in epithelia. The… CONTINUE READING

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