260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
21 citations
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January 2020 in “General and Comparative Endocrinology” This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.
4 citations
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January 2004 in “Biological and Pharmaceutical Bulletin” In this study, AgK114 was found to be transiently induced in hamster epidermal keratinocytes following skin damage, suggesting its role in the recovery process after injury.
2 citations
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August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
August 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses how activating the hexosamine pathway may enhance skin homeostasis by increasing hyaluronic acid secretion and supporting hair follicle stem cell self-renewal, but reports no new results.