| High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. | 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., Free PMC Article | 06/13/2023 |
| Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia. | Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Mellone S, Bertelli E, Roviglione B, Vurchio D, Ronzani S, Secco A, Felici E, Strozzi MM, Schena F, Giordano M., Free PMC Article | 03/3/2023 |
| Independent silencing of CRY1 and CRY2 genes in HAC15 cells resulted in a mild upregulation of HSD3B2 without affecting HSD3B1 expression. In conclusion, our results support the hypothesis that CRY1 and CRY2, being AngII-regulated genes, and showing a differential expression in APAs when compared with the adjacent adrenal cortex, might be involved in adrenal cell function, and in the regulation of aldosterone production | Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells.
Tetti M, Castellano I, Venziano F, Magnino C, Veglio F, Mulatero P, Monticone S., Free PMC Article | 10/20/2018 |
| Observed significant increase in HSD3B2 and ESR1 transcripts in follicular eutropic endometrium from infertile women with endometriosis may be related to abnormal biological effect of E2 in endometrium, further affecting the development of human embryos. | HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis.
Osiński M, Wirstlein P, Wender-Ożegowska E, Mikołajczyk M, Jagodziński PP, Szczepańska M. | 07/28/2018 |
| mRNAs expression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT) and in pediatric virilizing adrenocortical tumors (VAT) were analyzed. | DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex.
Baquedano MS, Perez Garrido N, Goñi J, Saraco N, Aliberti P, Berensztein E, Rivarola MA, Belgorosky A. | 11/26/2017 |
| Sequencing analyses indicate homozygous p.W355R mutation at exon 4 of the 3 beta-hydroxysteroid dehydrogenase type II (HSD3beta2) gene in both siblings. | Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene.
Güven A, Polat S., Free PMC Article | 07/8/2017 |
| the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3beta-HSD2 structure and function. | A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
Bizzarri C, Massimi A, Federici L, Cualbu A, Loche S, Bellincampi L, Bernardini S, Cappa M, Porzio O. | 04/8/2017 |
| The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), cytochrome P450 17 alpha-hydroxylase (P450c17) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases. | Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas.
Ishida K, Sasano H, Moriya T, Takahashi Y, Sugimoto R, Mue Y, Murakami K, Fujishima F, Nakamura Y, Morikawa T, Motoi F, Suzuki T, Unno M, Sugai T. | 03/18/2017 |
| HSD3B1 is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 mutation in aldosterone-producing adenoma. | 3β-Hydroxysteroid dehydrogenase isoforms in human aldosterone-producing adenoma.
Konosu-Fukaya S, Nakamura Y, Satoh F, Felizola SJ, Maekawa T, Ono Y, Morimoto R, Ise K, Takeda K, Katsu K, Fujishima F, Kasajima A, Watanabe M, Arai Y, Gomez-Sanchez EP, Gomez-Sanchez CE, Doi M, Okamura H, Sasano H., Free PMC Article | 02/13/2016 |
| Patients with HSD3B2 deficiency and 21-hydroxylase deficiency suffer similar morbid complications from under- and overtreatment, but HSD3B2 deficiency is associated with a distinctive pattern of sex steroid dysmetabolism. | Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA. | 11/28/2015 |
| both area and ratio of 3betaHSD and CYB5A double positive cells, which could represent the hybrid cells of zona fasciculate and zona reticularis, are correlated with adrenal development and could influence age-related serum androstenedione levels. | 3βHSD and CYB5A double positive adrenocortical cells during adrenal development/aging.
Nakamura Y, Fujishima F, Hui XG, Felizola SJ, Shibahara Y, Akahira J, McNamara KM, Rainey WE, Sasano H., Free PMC Article | 09/12/2015 |
| Results indicate that orexin-A significantly enhanced the expression of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) and the production of cortisol, and increased the phosphorylation of AKT protein in the NCI-H295R adrenocortical cells. | Orexin-A stimulates 3β-hydroxysteroid dehydrogenase expression and cortisol production in H295R human adrenocortical cells through the AKT pathway.
Chang X, Zhao Y, Ju S, Guo L. | 07/25/2015 |
| the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. | Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
Jernberg E, Thysell E, Bovinder Ylitalo E, Rudolfsson S, Crnalic S, Widmark A, Bergh A, Wikström P., Free PMC Article | 07/26/2014 |
| The cause of adrenocortical insufficiency in the studied family appears to be two novel homozygous mutations in the 3beta-HSD gene. | Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency.
Pan Y, Zhong S, Hu RM, Gong W. | 03/29/2014 |
| Risk-conferring genetic variations in the HSD3beta gene influenced susceptibility of primary aldosteronism. Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio | Association of the variations in the HSD3β gene with primary aldosteronism.
Wu VC, Wu CK, Chang YC, Young GH, Chen SC, Yang WS, Chen CY, Wang WJ, Lin CY, Lin YH, Lin SL, Chueh SC, Wu KD, TAIPAI study group. | 02/15/2014 |
| low ratio of cytochrome P450 family 17/3 beta-hydroxysteroid dehydrogenase type II with high expression of steroid 11-beta-monooxygenase seems to explain steroidogenic characteristics of aldosterone-producing adenomas | Characterization of steroidogenic enzyme expression in aldosterone-producing adenoma: a comparison with various human adrenal tumors.
Sakuma I, Suematsu S, Matsuzawa Y, Saito J, Omura M, Maekawa T, Nakamura Y, Sasano H, Nishikawa T. | 10/19/2013 |
| HSD3B SNP and gene-gene interactions in genetic susceptibility to bladder cancer | HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.
Andrew AS, Hu T, Gu J, Gui J, Ye Y, Marsit CJ, Kelsey KT, Schned AR, Tanyos SA, Pendleton EM, Mason RA, Morlock EV, Zens MS, Li Z, Moore JH, Wu X, Karagas MR., Free PMC Article | 06/22/2013 |
| Interleukin-4 and prostaglandin E2 synergistically up-regulate 3beta-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells. | Interleukin-4 and prostaglandin E2 synergistically up-regulate 3β-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells.
Urata Y, Osuga Y, Akiyama I, Nagai M, Izumi G, Takamura M, Hasegawa A, Harada M, Hirata T, Hirota Y, Yoshino O, Koga K, Kozuma S. | 06/15/2013 |
| The aim of this haplotype-based case-control study was to estimate whether polymorphisms of the maternal estrogen synthesis genes (CYP19A1, HSD3B1 and HSD3B2) are associated with preeclampsia and gestational hypertension | Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.
Shimodaira M, Nakayama T, Sato I, Sato N, Izawa N, Mizutani Y, Furuya K, Yamamoto T. | 06/1/2013 |
| snps in HSD3B2 was in men associated with a lower risk of paranoid ideation. | Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder.
Johansson AG, Nikamo P, Schalling M, Landén M. | 01/26/2013 |
| Mitochondrial HSD3B2 activity requires reversible pH-dependent conformational change at the intermembrane space. | Mitochondrial 3β-hydroxysteroid dehydrogenase enzyme activity requires reversible pH-dependent conformational change at the intermembrane space.
Prasad M, Thomas JL, Whittal RM, Bose HS., Free PMC Article | 06/16/2012 |
| Data suggest that HSD3B2 interacts/unfolds in presence of specific liposomes (unilamellar liposomes of DPPG/DPPC). This lipid-mediated unfolding completely supports model in which cavity forms between alpha-helix and beta-sheet to activate enzyme. | Lipid-mediated unfolding of 3β-hydroxysteroid dehydrogenase 2 is essential for steroidogenic activity.
Rajapaksha M, Thomas JL, Streeter M, Prasad M, Whittal RM, Bell JD, Bose HS., Free PMC Article | 02/25/2012 |
| 3beta-hydroxysteroid dehydrogenase type 2 | Inner mitochondrial translocase Tim50 interacts with 3β-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroidogenesis.
Pawlak KJ, Prasad M, Thomas JL, Whittal RM, Bose HS., Free PMC Article | 12/31/2011 |
| Human adrenal cells that express both 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production | Human adrenal cells that express both 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production.
Nakamura Y, Xing Y, Hui XG, Kurotaki Y, Ono K, Cohen T, Sasano H, Rainey WE., Free PMC Article | 06/25/2011 |
| SNPs located within the HSD3B2 gene were not associated with essential hypertension. | Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
Shimodaira M, Nakayama T, Sato N, Aoi N, Sato M, Izumi Y, Soma M, Matsumoto K. | 10/23/2010 |