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2023 7
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CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: a systemic review and meta-analysis.
Rezgoun ML, El Khour D, Bendaoud H, Chellat D. Rezgoun ML, et al. Acta Biomed. 2023 Aug 3;94(4):e2023167. doi: 10.23750/abm.v94i4.14229. Acta Biomed. 2023. PMID: 37539608 Free PMC article.
BACKGROUND AND AIM: To investigate the association between CYP17A1 (rs74357) polymorphism and the risk of Polycystic Ovary Syndrome (PCOS). METHODS: Literature on the association of CYP17rs74357 gene polymorphism and susceptibility to PCOS was retrieved by searching databa …
BACKGROUND AND AIM: To investigate the association between CYP17A1 (rs74357) polymorphism and the risk of Polycystic Ovary Syndrome ( …
Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review.
Mokhosoev IM, Astakhov DV, Terentiev AA, Moldogazieva NT. Mokhosoev IM, et al. Cells. 2024 Nov 26;13(23):1958. doi: 10.3390/cells13231958. Cells. 2024. PMID: 39682707 Free PMC article. Review.
However, 2-hydroxy- and 4-hydroxy-estrogens and their O-methylated derivatives along with conjugated metabolites play cancer-protective roles. CYP17A1 and CYP11A1, which are involved in the biosynthesis of testosterone precursors, contribute to prostate cancer, whereas con …
However, 2-hydroxy- and 4-hydroxy-estrogens and their O-methylated derivatives along with conjugated metabolites play cancer-protective role …
A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.
Wang J, Sun Y, Deng Q, Wang X, Cai W, Chen Y. Wang J, et al. Hormones (Athens). 2024 Mar;23(1):171-178. doi: 10.1007/s42000-023-00513-y. Epub 2023 Nov 24. Hormones (Athens). 2024. PMID: 37996649
While MAMLD1 transcription was not affected, CYP17A1 transcription levels decreased with the variant compared to wild-type, suggesting an impact on the transactivation of CYP17A1. ...CONCLUSION: Severe hypospadias in the proband may be attributed to a novel MAMLD1 v …
While MAMLD1 transcription was not affected, CYP17A1 transcription levels decreased with the variant compared to wild-type, suggestin …
CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17alpha-Hydroxylase Deficiency by Targeted Long-Read Sequencing.
Cao Y, Zhao Z, Lu L, Zhang X, Zhang W, Sun B, Tong A, Chen S, Wang X, Mao J, Wu X, Nie M. Cao Y, et al. J Clin Endocrinol Metab. 2024 Dec 18;110(1):59-69. doi: 10.1210/clinem/dgae414. J Clin Endocrinol Metab. 2024. PMID: 38934795
A total of 20 pathogenic variants in the CYP17A1 were identified, with variant c.985_987delinsAA being the most frequent (28/52 alleles), followed by variant c.1459_1467del (4/52 alleles). ...Five novel pathogenic variants were reported, broadening the spectrum of the C …
A total of 20 pathogenic variants in the CYP17A1 were identified, with variant c.985_987delinsAA being the most frequent (28/52 allel …
Androgen production, uptake, and conversion (APUC) genes define prostate cancer patients with distinct clinical outcomes.
Bergom HE, Boytim E, McSweeney S, Sadeghipour N, Elliott A, Passow R, Toye E, Li X, Likasitwatanakul P, Geynisman DM, Dehm SM, Halabi S, Sharifi N, Antonarakis ES, Ryan CJ, Hwang J. Bergom HE, et al. JCI Insight. 2024 Oct 22;9(20):e183158. doi: 10.1172/jci.insight.183158. JCI Insight. 2024. PMID: 39207857 Free PMC article.
Real-world overall survival was determined from insurance claims data using Kaplan-Meier estimates.RESULTSSix APUC genes (HSD3B1, HSD3B2, CYP3A43, CYP11A1, CYP11B1, CYP17A1) exhibited coalescent gene behavior in a cohort of metastatic tumors (n = 208). ...
Real-world overall survival was determined from insurance claims data using Kaplan-Meier estimates.RESULTSSix APUC genes (HSD3B1, HSD3B2, CY …
Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy.
Miller WL, Pandey AV, Flück CE. Miller WL, et al. J Clin Endocrinol Metab. 2025 Feb 18;110(3):e574-e582. doi: 10.1210/clinem/dgae815. J Clin Endocrinol Metab. 2025. PMID: 39574227 Free PMC article. Review.
POR deficiency is a rare but well-described form of CAH characterized by impaired activity of 21-hydroxylase (P450c21, CYP21A2) and 17-hydroxylase/17,20-lyase (P450c17, CYP17A1); more severely affected individuals also have the Antley-Bixler skeletal malformation syndrome …
POR deficiency is a rare but well-described form of CAH characterized by impaired activity of 21-hydroxylase (P450c21, CYP21A2) and 17-hydro …
Identification and analysis of oxidative stress-related genes in endometriosis.
Xie C, Lu C, Lv N, Kong W, Liu Y. Xie C, et al. Front Immunol. 2025 Mar 7;16:1515490. doi: 10.3389/fimmu.2025.1515490. eCollection 2025. Front Immunol. 2025. PMID: 40124382 Free PMC article.
A ceRNA network was established, encompassing 28 DE-OSRGs, 32 miRNAs, and 53 lncRNAs. Four key OSRGs (CYP17A1, NR3C1, ENO2, and NGF) were selected from protein-protein interaction network analysis. ...Weighted gene co-expression network analysis identified three immune-rel …
A ceRNA network was established, encompassing 28 DE-OSRGs, 32 miRNAs, and 53 lncRNAs. Four key OSRGs (CYP17A1, NR3C1, ENO2, and NGF) …
A novel homozygous CYP17A1 mutation causes partial 17 alpha-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H, Chen Y, Mao H, Huang H, Lou X. Chen H, et al. Blood Press. 2023 Dec;32(1):2195008. doi: 10.1080/08037051.2023.2195008. Blood Press. 2023. PMID: 37088984 Free article. Review.
The aim of this study was to help early detection and diagnosis of partial 17-OHD.Methods: We present a case of a 41-year-old female (46,XX) patient with partial 17-OHD caused by a novel missense CYP17A1 mutation, c.391 A > C (p.T131P). This patient experienced hyperten …
The aim of this study was to help early detection and diagnosis of partial 17-OHD.Methods: We present a case of a 41-year-old female (46,XX) …
Dual inhibition of CYP17A1 and HDAC6 by abiraterone-installed hydroxamic acid overcomes temozolomide resistance in glioblastoma through inducing DNA damage and oxidative stress.
Sharma R, Chiang YH, Chen HC, Lin HY, Yang WB, Nepali K, Lai MJ, Chen KY, Liou JP, Hsu TI. Sharma R, et al. Cancer Lett. 2024 Apr 1;586:216666. doi: 10.1016/j.canlet.2024.216666. Epub 2024 Feb 2. Cancer Lett. 2024. PMID: 38311053
In this study, we present a mechanistic breakthrough by designing and evaluating a series of abiraterone-installed hydroxamic acids as potential dual inhibitors of CYP17A1 and HDAC6 for GBM treatment. We established the correlation of CYP17A1/HDAC6 overexpression wi …
In this study, we present a mechanistic breakthrough by designing and evaluating a series of abiraterone-installed hydroxamic acids as poten …
Impact of Morphology in the Genotype and Phenotype Correlation of Bilateral Macronodular Adrenocortical Disease (BMAD): A Series of Clinicopathologically Well-Characterized 35 Cases.
Violon F, Bouys L, Berthon A, Ragazzon B, Barat M, Perlemoine K, Guignat L, Terris B, Bertherat J, Sibony M. Violon F, et al. Endocr Pathol. 2023 Jun;34(2):179-199. doi: 10.1007/s12022-023-09751-7. Epub 2023 Mar 2. Endocr Pathol. 2023. PMID: 36864263
HSD3B2 staining was predominantly expressed by clear cells whereas CYP17A1 staining was predominant on compact eosinophilic cells. This partial expression of steroidogenic enzymes may explain the low efficiency of cortisol production in BMAD. ...
HSD3B2 staining was predominantly expressed by clear cells whereas CYP17A1 staining was predominant on compact eosinophilic cells. Th …
29 results