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.
January 2025 in “International Journal of Gynaecology Research” This study found that serum cystatin C levels may be elevated in adolescent females with PCOS, suggesting it could serve as a predictive marker for metabolic and cardiovascular issues independent of renal function.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that cystatin M/E strongly inhibits human cathepsin V and cathepsin L via distinct non-overlapping sites, suggesting an important role in human epidermal differentiation and hair follicle morphogenesis.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
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.