This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
101 citations
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October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
This study explored the structure and function of lipocalin prostaglandin D synthase, revealing its dual role in substrate catalysis and as a lipophilic ligand carrier, potentially informing future drug delivery design.
10 citations
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September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
1 citations
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August 2023 in “Andrology” In this animal study, finasteride treatment altered testosterone metabolism in rat corpus cavernosum, linked to mechanisms of erectile dysfunction, but these changes were reversed after stopping the drug, suggesting post-treatment sexual side effects may relate more to central control dysfunction than peripheral issues.
