Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin

    November 2018 in “ Genetics in medicine ”
    Ellen H.J. van den Bogaard, Michel van Geel, Ivonne M.J.J. van Vlijmen-Willems … Patrick L.J.M. Zeeuwen
    Studysummary This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
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    Research cited in this study 6

    1. Colocalization of Cystatin M/E and Its Target Proteases Suggests a Role in Terminal Differentiation of Human Hair Follicle and Nail ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2008
    2. Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site Distinct from the Legumain-binding Site Journal of biological chemistry/˜The œJournal of biological chemistry · 2006
    3. Epidermal Differentiation: The Role of Proteases and Their Inhibitors European Journal of Cell Biology · 2004
    4. A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification Human molecular genetics online/Human molecular genetics · 2002
    5. The Lysosomal Protease Cathepsin L Is an Important Regulator of Keratinocyte and Melanocyte Differentiation During Hair Follicle Morphogenesis and Cycling ˜The œAmerican journal of pathology · 2002
    6. Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis PubMed · 1997