A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
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August 2023 in “Andrology” Finasteride changes hormone levels and certain proteins in rats, but these effects can be reversed after stopping the drug.