22 citations
,
January 2012 in “Mediators of inflammation” This review discusses the potential benefits of nonantibiotic macrolides for treating inflammatory skin disorders and reports no new clinical results.
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.
January 2025 in “Pakistan Journal of Health Sciences” This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
This study identified seven novel CYP17A1 inhibitor scaffolds as potential leads for treating polycystic ovary syndrome through an in silico approach, demonstrating favorable interactions, drug-like properties, and predicted bioactivities warranting further experimental validation.
7 citations
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January 2015 in “Dermatology” This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.
7 citations
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February 2014 in “Talanta” This study developed an advanced HPLC-ESI-ion trap MS(n) method for the structural identification of cyclosporin A analogs CyA and CyC and reported the first MS(n)-aided identification of a new CyA analog.
4 citations
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October 2024 in “Heliyon” This study characterized the CYP154C7 enzyme from *Streptomyces* sp. PAMC26508, highlighting its ability to hydroxylate steroids efficiently, particularly androstenedione, and identified key amino acids important for substrate selectivity and catalytic efficiency.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
66 citations
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August 2007 in “Applied and environmental microbiology” This study engineered a bioluminescent yeast strain responsive to androgenic chemicals, demonstrating rapid and sensitive detection suitable for high-throughput screening and environmental monitoring.
46 citations
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November 2019 in “Journal of Integrative Plant Biology” This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.
13 citations
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January 2013 in “Applied and Environmental Microbiology” This study found that regio-specific hydroxylation of cyclosporine A in Sebekia benihana is mediated by the cytochrome P450 hydroxylase CYP-sb21, suggesting potential biotechnological applications for hair growth promotion without immunosuppressive effects.
4 citations
,
April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
3 citations
,
July 2020 in “Synthetic and Systems Biotechnology” This study found that the cytochrome P450 enzyme CYP-sb21 can hydroxylate cyclosporine A at multiple positions, reducing its immunosuppressive effects but retaining its hair growth-promoting side-effect, and suggests modifications to improve regioselectivity for commercial use.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
1 citations
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January 1980 in “Computer Physics Communications” 12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
November 2022 in “Journal of Investigative Dermatology” This study found that stimulating the olfactory receptor OR2A4/7 with cyclohexyl salicylate promoted human hair growth and increased progeny of hair follicle epithelial stem cells in an ex vivo setting.
9 citations
,
February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
56 citations
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April 2019 in “The Plant Journal” This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.
7 citations
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March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
May 2010 in “Europe PMC (PubMed Central)” This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.
11 citations
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August 2017 in “Journal of Chromatographic Science” This study established a rapid and accurate ultra-performance liquid chromatographic method for chemical fingerprinting and analyzing Platycladi cacumen, effectively distinguishing batches based on geographical and climatic conditions.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.