260 citations
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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.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
30 citations
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April 2021 in “The Journal of Sexual Medicine” This guideline provides recommendations for prescribing systemic testosterone to women with hypoactive sexual desire disorder, emphasizing safe dosing, monitoring, and the need for informed consent despite regulatory challenges.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
18 citations
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February 2012 in “Experimental Dermatology” This study found no significant association between selected gene variants and female pattern hair loss, suggesting these genes might not be involved in its development.
14 citations
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April 2024 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that epitestosterone, a stereoisomer of testosterone, is metabolized to 5α-dihydroepitestosterone by human 5α-reductase enzymes, which enhances its androgenic activity and reduces its antagonistic effect on testosterone-driven androgen receptor signaling.
14 citations
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April 2021 in “Biology” This study found that ethanol extract of Tubtim Chumphae rice bran downregulates SRD5A gene expression, similarly to finasteride, suggesting potential use as an anti-hair loss product.
8 citations
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February 2022 in “Molecules” This study found that Asparagus racemosus root extract significantly reduced facial sebum production and pore size in male volunteers, suggesting potential application as an anti-sebum ingredient in cosmetics.
8 citations
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July 2019 in “Endocrine connections” This study found that post-finasteride syndrome patients showed a tissue-specific methylation pattern of the SRD5A2 promoter in cerebrospinal fluid, potentially affecting neuroactive steroid levels and related behavioral symptoms.
7 citations
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January 2022 in “Plants” This study found that extracts from the rice variety Bue Bang 3 CMU, particularly the husk and bran, demonstrated antioxidant, anti-inflammatory, and anti-androgenic properties, suggesting potential use in treating androgenetic alopecia.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study used a multi-layer in silico framework to evaluate Korean herbal compounds for androgenetic alopecia, identifying Biochanin A, Saponin Re, and Emodin as potential topical candidates with distinct safety and affinity profiles, although these findings remain purely computational without experimental validation.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study evaluated Korean herbal compounds in silico and identified Biochanin A, Saponin Re, and Emodin as potential topical treatments for androgenetic alopecia, each with specific safety and efficacy considerations.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, in silico analysis identified Saponin Re and Emodin as promising candidates for topical treatment of androgenetic alopecia, with Biochanin A having the most favorable safety profile among the tested compounds.
June 2026 in “The Journal of Sexual Medicine” This case report describes an extremely rare instance of seminoma in an adult with SRY-negative 46,XX testicular disorder of sex development, uniquely presenting as acute abdomen due to gonadal torsion.
May 2026 in “Open Science Framework” This study conducted an in silico evaluation of Korean herbal compounds against key targets involved in androgenetic alopecia, finding Biochanin A, Saponin Re, and Emodin as promising candidates for topical treatments, but highlighting safety and topical formulation challenges.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study identified Saponin Re and Emodin as top candidates for treating androgenetic alopecia, suggesting future research in dermal papilla cell cultures and scalp organoids despite safety concerns.
April 2026 in “Sri Lanka Journal of Medicine” This study found that female university students in Peradeniya, Sri Lanka have a low awareness of PCOS, with better knowledge scores among those trained by healthcare professionals and those in medical fields.
February 2026 in “Toxicology Letters” This study used an in silico/in vitro approach to identify potential inhibitors of the enzyme SRD5A2, finding that the androgen receptor modulator MK-0773 is a moderate inhibitor, although it does not act as a covalent inhibitor like finasteride.
January 2026 in “Nature Reviews Urology” August 2025 in “Sri Lankan Journal of Applied Sciences” This review article examines the therapeutic potential and traditional use of 15 medicinal plants in Sri Lankan indigenous medicine for treating skin diseases, based on a literature review from studies dated 1990 to 2024.
April 2025 in “Molecular Biology Reports” In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.
August 2024 in “Biomedical Journal of Scientific & Technical Research” This review discusses the role of steroid 5 alpha reductase 2 in converting testosterone to DHT and its association with conditions like benign prostatic hyperplasia and prostate cancer; it reports no new results.
April 2024 in “The Journal of urology/The journal of urology” In this study, researchers found that methylation of the SRD5A2 gene in blood and tissue samples can serve as a biomarker to predict men's clinical response to finasteride treatment for benign prostatic hyperplasia, offering a non-invasive method for assessing potential treatment success.
November 2023 in “Scientific reports” This study presents the first report on cloning and characterizing the full-length cDNA of SRD5A1 in Indian catfish (Clarias magur), revealing expression differences across reproductive phases and increased expression post-Ovatide administration in ovaries and testis.
June 2023 in “Frontiers in Medicine” This study identified core genes and pathways involved in androgenetic alopecia, finding that genes related to hair follicle development are down-regulated, while those linked to immune responses are up-regulated, highlighting potential therapeutic targets.
December 2020 in “Forum Dermatologicum” In this case report, a combination treatment of intralesional triamcinolone acetonide, oral acitretin, and topical clobetasol propionate showed effectiveness in reducing symptoms of Graham-Little-Piccardi-Lasseur syndrome in one patient over two months, with no new areas of hair loss observed.