58 citations
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April 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified that the enzyme CYP2B12 is skin-specific and likely plays a role in the metabolism of arachidonic acid, a key component in lipid signaling within sebaceous glands.
40 citations
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February 2005 in “Fertility and Sterility” This study suggests that although the G972R variant of the IRS1 gene might increase AA excess risk in heterozygous carriers with CYP21 mutations, both variations play a limited role in PCOS development.
14 citations
,
January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” This study found that specific genetic variants in the CYP21A2 and CYP19A1 genes were associated with severe acne vulgaris among Han Chinese, particularly in male patients.
9 citations
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February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.