March 2021 in “Research Square (Research Square)” This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.
July 2026 in “Research Square” 12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
4 citations
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April 2019 in “JAAD Case Reports” This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.
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
,
January 2006 in “PubMed” This study found that finasteride-induced DHT deficiency altered estrogen receptor expression in the epididymis, potentially destabilizing its function.
104 citations
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May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
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.
34 citations
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January 2016 in “Analytical Chemistry” This study reports that a new DART-HRMS method can effectively analyze intact hair for drug use timelines, with cocaine detection aligning with forensic standards and identifying multiple drugs from high-resolution data.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
May 2021 in “The FASEB Journal” This study presents the crystal structure of human SRD5A2 with finasteride and reveals insights into its enzyme catalysis and inhibition mechanisms, which may inform drug development.
42 citations
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August 2012 in “Psychoneuroendocrinology” Finasteride reduces certain behaviors caused by D1-like receptor agonists but not by D2-like receptor agonists in mice.
98 citations
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July 2006 in “Neuropsychopharmacology” In this study, researchers developed a computational method called iEdgePathDDA that prioritizes anticancer drug candidates by analyzing changes in gene interactions, demonstrating superior performance compared to existing methods across colorectal, breast, and lung cancer datasets.
February 2026 in “Trials” The Exfoliate-Dissolve-Repair skincare approach may effectively treat keratosis pilaris and reduce the need for corticosteroids.
30 citations
,
October 2020 in “Nature Communications” This study provides the first crystal structure of the human SRD5A2 enzyme, revealing key insights into its function and inhibition which may aid future drug development.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
February 2023 in “Cosmoderma” This study found that combining red light therapy with oral beta-carotene significantly improved photoaging treatment outcomes compared to red light therapy alone, with Group A showing a 56.12% reduction in photoaging scores over 12 weeks versus 44.78% in Group B.
35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.
1 citations
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April 2013 in “The FASEB Journal” In this study, chronic finasteride administration in near-term pregnant rats restored baroreflex control of renal sympathetic nerve activity to levels observed in non-pregnant rats.
3 citations
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September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
7 citations
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October 2019 in “Clinical, Cosmetic and Investigational Dermatology” This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
26 citations
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September 2005 in “Pharmacology Biochemistry and Behavior” This study found that inhibiting the 5alpha-reductase 2 pathway in male rats affects brain sexual differentiation and leads to reproductive changes, including increased pre-implantation loss despite unchanged copulatory potential.
April 2018 in “Journal of Investigative Dermatology” This study found that treating human dermal fibroblast cells with ginsenoside Rd increased the expression of mRNA associated with the dermal-epidermal junction, suggesting potential as an anti-aging cosmetic ingredient.