Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

    July 2021 in “ Frontiers in Genetics ”
    Katja‐Martina Eckl, Robert Gruber, Louise Brennan … Matthias Schmuth
    Studysummary This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
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    Research cited in this study 4

    1. Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin Genetics in medicine · 2018
    2. Cell Death by Cornification Biochimica et biophysica acta. Molecular cell research · 2013
    3. Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Orphanet Journal of Rare Diseases · 2011
    4. Keratosis Follicularis Spinulosa Decalvans in a Family Journal of the American Academy of Dermatology · 2008