9 citations
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February 2002 in “PubMed” This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.
40 citations
,
January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
November 2025 in “Drug Testing and Analysis” This study investigated the metabolic pathways of epristeride, a new Type II 5α‐reductase inhibitor, using in vitro models and found that its metabolites show significant interactions with key proteins, suggesting implications for its role in doping control.
7 citations
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April 2019 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that 11α-hydroxyprogesterone is a potent inhibitor of 11βHSD2 in vitro and may serve as a precursor to unique C11α-hydroxy steroids in prostate cancer tissue.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
16 citations
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August 2004 in “Tetrahedron” In this study, all stereoisomers of cyoctol were synthesized and tested, revealing that contrary to initial patent claims, cyoctol does not function as an anti-androgen.
42 citations
,
January 2002 in “Skin Pharmacology and Physiology” This study reported that reconstructed skin models can be useful for studying the effects of non-water-soluble topical products on xenobiotic metabolism, particularly in enzyme activities like EROD and GST.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
January 2008 in “Padua Research Archive (University of Padua)” This study observed that hereditary factors were associated with acne duration but not severity, and found a potential role of CYP450 1A1 polymorphisms in acne pathogenesis.
6 citations
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July 2007 in “Organic Process Research & Development” This study optimized the reaction conditions for the stereoselective hydrogenation of a compound used in manufacturing finasteride and dutasteride, improving the selectivity for the desired isomer.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
November 2020 in “Universal Journal of Pharmaceutical Research” In this study, tacrolimus-based treatment was found to result in fewer overall side effects compared to cyclosporine among Yemeni kidney transplant patients, although tacrolimus was associated with a higher incidence of diabetes.
July 2016 in “Reactions Weekly” Cyproterone and finasteride reduced hypersexuality but caused serious side effects.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
22 citations
,
June 2002 in “Journal of Medicinal Chemistry” This study found that several synthesized compounds were potent inhibitors of human steroid 5alpha-reductase type 2 and reduced prostate weights in treated rats, with compound 15 showing promise for potency in humans.
53 citations
,
June 1993 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified LY191704 as a specific noncompetitive inhibitor of human 5 alpha-reductase type 1, which may be useful in treating endocrine disorders related to DHT overproduction.
September 2021 in “Research Square (Research Square)” This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.
1 citations
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January 2015 in “Case reports in endocrinology” This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.
January 2007 in “日本看護学会抄録集 成人看護1” This study found that specific residues in human steroid 5alpha-reductase types 1 and 2 influence substrate binding and resistance to the inhibitor Finasteride, with certain substitutions significantly affecting these interactions.
12 citations
,
August 2017 in “Pharmaceutical medicine” This study found that physician knowledge of thromboembolism risk associated with cyproterone acetate/ethinylestradiol was generally high, although it varied for complex or less common topics.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
January 2011 in “Reactions Weekly” 1 citations
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January 2010 This study in humans and pigs found that finasteride metabolism is significantly influenced by CYP3A4, with induced metabolism decreasing and inhibited metabolism increasing plasma exposure of the drug.
3 citations
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November 1998 in “PubMed” This study found that finasteride significantly inhibits the metabolism of tirilazad to its active metabolites without greatly affecting tirilazad's overall clearance.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.
April 2011 in “Reactions Weekly”