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Page 1
Targeted Mutational Analysis of Cortisol-Producing Adenomas.
Rege J, Hoxie J, Liu CJ, Cash MN, Luther JM, Gellert L, Turcu AF, Else T, Giordano TJ, Udager AM, Rainey WE, Nanba K. Rege J, et al. J Clin Endocrinol Metab. 2022 Jan 18;107(2):e594-e603. doi: 10.1210/clinem/dgab682. J Clin Endocrinol Metab. 2022. PMID: 34534321 Free PMC article.
Using IHC for 17alpha-hydroxylase/17,20-lyase (CYP17A1) and 3beta-hydroxysteroid dehydrogenase (HSD3B2), we identified 78 CPAs (32 OCS CPAs and 46 MACE CPAs). Genomic DNA was isolated from the FFPE CPAs and subjected to targeted amplicon sequencing for identification of so …
Using IHC for 17alpha-hydroxylase/17,20-lyase (CYP17A1) and 3beta-hydroxysteroid dehydrogenase (HSD3B2), we identified 78 CPAs (32 OC …
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R, Marakhonov A, Tiulpakov A. Makretskaya N, et al. Front Endocrinol (Lausanne). 2023 May 16;14:1146768. doi: 10.3389/fendo.2023.1146768. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37274334 Free PMC article.
RESULTS: Eight heterozygous carriers of c.690G>A variant in HSD3B2 gene were detected in 339 samples investigated. The total allele frequency of p.Trp230* variant was 0.0118 (n=8/678, 95% CI=0.0051-0.0231). ...The frequency of CAH caused by p.Trp230* variant in HSD3B …
RESULTS: Eight heterozygous carriers of c.690G>A variant in HSD3B2 gene were detected in 339 samples investigated. The total 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 …
Oxytocin enhances progesterone production with upregulation of BMP-15 activity by granulosa cells.
Yamamoto K, Nakano Y, Iwata N, Soejima Y, Suyama A, Hasegawa T, Otsuka F. Yamamoto K, et al. Biochem Biophys Res Commun. 2023 Feb 26;646:103-109. doi: 10.1016/j.bbrc.2023.01.073. Epub 2023 Jan 23. Biochem Biophys Res Commun. 2023. PMID: 36708595
In accordance with the effects of OXT on progesterone production, OXT enhanced mRNA expression of CYP11A1 and HSD3B2 induced by FSK in human granulosa cells. Of note, OXT enhanced the phosphorylation of SMAD1/5/9 and the transcription of ID1 induced by BMP-15, but not thos …
In accordance with the effects of OXT on progesterone production, OXT enhanced mRNA expression of CYP11A1 and HSD3B2 induced by FSK i …
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ, Paulukinas RD, Penning TM. Detlefsen AJ, et al. Int J Mol Sci. 2023 Jan 18;24(3):1873. doi: 10.3390/ijms24031873. Int J Mol Sci. 2023. PMID: 36768194 Free PMC article. Review.
Germline mutations that cause dysfunction in these enzymes cause a variety of endocrine disorders. Mutations in SRD5A2, HSD17B3, and HSD3B2 genes that lead to disordered sexual development, salt wasting, and other severe disorders provide a glimpse of the impacts of mutati …
Germline mutations that cause dysfunction in these enzymes cause a variety of endocrine disorders. Mutations in SRD5A2, HSD17B3, and HSD3 …
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y, Chen M, Liu J, Mao A, Teng Y, Yan H, Zhu H, Li Z, Liang D, Wu L. Liu Y, et al. Clin Chem. 2022 Jul 3;68(7):927-939. doi: 10.1093/clinchem/hvac046. Clin Chem. 2022. PMID: 35714169
METHODS: A comprehensive analysis of CAH (CACAH) combining long-range locus-specific PCR and long-read sequencing (LRS) was developed to perform full sequence analysis of 5 common CAH candidate genes, including CYP21A2, CYP11B1, CYP17A1, HSD3B2, and StAR. In a blind retros …
METHODS: A comprehensive analysis of CAH (CACAH) combining long-range locus-specific PCR and long-read sequencing (LRS) was developed to per …
Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation.
Yazawa T, Watanabe Y, Yokohama Y, Imamichi Y, Hasegawa K, Nakajima KI, Kitano T, Ida T, Sato T, Islam MS, Umezawa A, Takahashi S, Kato Y, Jahan S, Kawabe JI. Yazawa T, et al. Front Endocrinol (Lausanne). 2024 Oct 2;15:1480722. doi: 10.3389/fendo.2024.1480722. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39415787 Free PMC article.
Therefore, evaluation of the HSD3B2 enzymatic activity in both pathways for each steroid hormone production is important for accurately understanding and diagnosing this disorder. ...HEK293 cells were transduced to express human HSD3B2, and incubated medium containi …
Therefore, evaluation of the HSD3B2 enzymatic activity in both pathways for each steroid hormone production is important for accurate …
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Ladjouze A, Donaldson M, Plotton I, Djenane N, Mohammedi K, Tardy-Guidollet V, Mallet D, Boulesnane K, Bouzerar Z, Morel Y, Roucher-Boulez F. Ladjouze A, et al. Front Endocrinol (Lausanne). 2022 Jun 10;13:867073. doi: 10.3389/fendo.2022.867073. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35757411 Free PMC article.
Adrenal steroids were measured using mass spectrophotometry (LC-MS/MS). A genetic analysis of HSD3B2 was performed using Sanger sequencing. RESULTS: A 3betaHSD2 defect was confirmed in 6 males and 8 females from 10 families (8 consanguineous), with p.Pro222Gln mutation in …
Adrenal steroids were measured using mass spectrophotometry (LC-MS/MS). A genetic analysis of HSD3B2 was performed using Sanger seque …
Differential Impact of Smoking on Methylome and Transcriptome in Crohn's Disease and Ulcerative Colitis.
Yan Ang Q, Plichta D, Kim S, Hyun-A Kim I, Gregory S, Xia Y, Lau H, Xavier R, Ananthakrishnan AN. Yan Ang Q, et al. Inflamm Bowel Dis. 2024 Jun 3;30(6):981-991. doi: 10.1093/ibd/izad268. Inflamm Bowel Dis. 2024. PMID: 38001042 Free PMC article.
Genes with opposite direction of effects in CD and UC include HSD3B2 and GSTA1. CONCLUSIONS: Our findings suggest both common and differential effects of cigarette smoking on CD and UC. ...
Genes with opposite direction of effects in CD and UC include HSD3B2 and GSTA1. CONCLUSIONS: Our findings suggest both common and dif …
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