Distinguishing Ichthyoses by Protein Profiling

@inproceedings{Rice2013DistinguishingIB,
  title={Distinguishing Ichthyoses by Protein Profiling},
  author={Robert H. Rice and Katie Marie Bradshaw and Blythe P. Durbin-Johnson and David M. Rocke and Richard A. Eigenheer and Brett S. Phinney and Matthias Schmuth and Robert Gruber},
  booktitle={PloS one},
  year={2013}
}
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X… CONTINUE READING

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Ceramide synthase 3 deficiency causes autosomal recessive congenital ichthyosis in humans

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  • PLoS Genetics in press
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