10 citations
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November 2018 in “Genetics in medicine” 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.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that cathepsin L and transglutaminase 3 colocalize in the human hair bulb and nail matrix, suggesting their involvement in terminal differentiation within these epidermal appendages.
21 citations
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August 2007 in “Experimental Dermatology” This study found that mice genetically modified to overexpress the serine protease inhibitor hurpin showed reduced UV-induced apoptosis but increased susceptibility to skin cancer after chemical carcinogenesis.
6 citations
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July 2021 in “Frontiers in Genetics” 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.