15 citations
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October 1970 in “Archives of disease in childhood” Hair amino acid levels can indicate metabolic disorders.
4 citations
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January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
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.
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.
26 citations
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September 1990 in “Ophthalmology” This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.