81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
14 citations
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January 2018 in “Advances in Clinical Chemistry” This review discusses the evaluation of hyperandrogenemia in women and hypogonadism in men across different life stages and presents biomarkers used for diagnosing male hypogonadism, reporting no new clinical results.
7 citations
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August 2023 in “Ageing Research Reviews” More research is needed to understand hair aging and develop effective treatments.
August 2026 in “International Journal of Pharmaceutical and Clinical Research” This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.
3 citations
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November 2022 in “European Journal of Human Genetics” This study developed new genetic prediction models for male pattern baldness with improved accuracy by utilizing a large set of markers and independent datasets, making them the most reliable available for this trait.