Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix

    Eli Sprecher, Christopher J. Miller, Gabriele Richard … Kenneth H. Neldner
    Studysummary This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 2

    1. The Type I Keratin 19 Possesses Distinct and Context-Dependent Assembly Properties Journal of Biological Chemistry · 1998
    2. Increased Expression of Keratin 16 Causes Anomalies in Cytoarchitecture and Keratinization in Transgenic Mouse Skin The Journal of Cell Biology · 1994

    Related research 1

    1. Keratin Gene Mutations in Disorders of Human Skin and Its Appendages Archives of Biochemistry and Biophysics · 2010