• T/A ratio was 0.26 and the diagnosis was 17βHSD-3 deficiency, which was confirmed by the evidence of compound heterozygousity novel frameshift mutations in exon 9 and 10 of HSD17B3 gene. (degruyter.com)
  • mutations in the HSD11B2 gene explain an inherited form of hypertension, the syndrome of apparent mineralocorticoid excess in which cortisol acts as a potent mineralocorticoid. (richardvigilantebooks.com)
  • Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. (eurospe.org)
  • The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene. (bvsalud.org)
  • Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (DSD). (bvsalud.org)
  • Furthermore, we review all HSD17B3 mutations published so far in cases of 17-ß-HSD3 deficiency. (bvsalud.org)
  • A total of 70 different HSD17B3 mutations have so far been reported in 239 patients from 187 families. (bvsalud.org)
  • 17p-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17 β HSD3 gene. (degruyter.com)
  • 17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis. (wikipedia.org)
  • The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. (richardvigilantebooks.com)
  • The 17-beta-hydroxysteroid dehydrogenase type 3 (17-ß-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. (bvsalud.org)
  • qPCR showed that the enzyme AKR1C3, rather than HSD17B3, was the major reductive 17β-hydroxysteroid dehydrogenase in PBMCs, responsible for the activation of the 11-oxygenated androgen 11-ketotestosterone and the classic androgen testosterone. (bham.ac.uk)
  • The present study shows that the SRD5A2 and CYP21 genes were not involved in the testicular biosynthesis of androstenone. (inra.fr)
  • Several of these genes are associated with steroid hormone biosynthesis. (biomedcentral.com)
  • Further, genes found to be sex-biased are associated with hormone biosynthesis, suggesting that sex steroid hormones may be key contributors to sexual behavioral plasticity seen in teleosts. (biomedcentral.com)
  • Male Bmal1−/− mice are infertile with low serum testosterone levels and decreased expression of testicular steroidogenic genes, suggesting that circadian clock genes regulate testosterone biosynthesis by activating steroidogenic gene transcription. (tmu.edu.tw)
  • At 16 wk, functional analysis (DAVID) of DE mRNA revealed common biological processes including Mouse monoclonal to INHA cholesterol and fatty acid biosynthesis, with most genes (including HMGCR, HMGCS1, HSD17) upregulated in high-diet bulls (P? (forgetmenotinitiative.org)
  • Major pathways enriched at 16 wk were cholesterol biosynthesis, steroid metabolism and activation of gene expression by Sterol regulatory element binding protein (SREBP) (P? (forgetmenotinitiative.org)
  • There was an indirect interaction between insulin family receptor and most upregulated cholesterol biosynthesis genes. (forgetmenotinitiative.org)
  • Numerous genes involved in steroid biosynthesis indirectly interacted with the Insulin family receptor (and share 84% similarity in the subunit and 64C67 and 100% similarly in the subunit and ATP binding domain, respectively31,32. (forgetmenotinitiative.org)
  • Bmal1−/− mice showed severely reduced expression of testicular circadian clock genes at three time points (CT4, CT12, and CT20), and a reduction in mRNA expression levels of Apo (Apoa1, Apoa2, and Apoc3) and steroidogenic (StAR, Cyp11a1, Hsd3b2, and Hsd17b3) genes. (tmu.edu.tw)
  • Desk 3 Primer sequences useful for validation of indicated genes in the testicular cells of Holstein bull calves differentially. (forgetmenotinitiative.org)
  • Increased amounts of progesterone and estradiol and reduced androstenedione levels were observed at D30, together with decreased transcript levels of steroid metabolizing genes and steroid target genes. (elifesciences.org)
  • To explore the metabolism of steroids in the pig species, a qualitative PCR analysis was performed for the main transcript of 27 genes involved in steroid metabolism. (inra.fr)
  • RNA sequencing identified 37 and 48 genes that were differentially expressed between WT and Bmal1−/− mouse testes at circadian time (CT2 and CT14), respectively. (tmu.edu.tw)
  • At 24 wk, a total of 87 genes were differentially expressed (Supplementary dataset?3), with 41 upregulated in high-diet bulls (genes with higher log2fold change- KRT8, ENPP3, CA3, HSD17B3). (forgetmenotinitiative.org)
  • Open up in another window Shape 4 qPCR validation of differentially indicated genes IRS (24wk), AMH (24 wk), HMGCR (16wk), CYP51A1 (16wk), GJA1 (16wk) and IGF-IR (16 wk) in Holstein bull calves given a minimal or high diet plan. (forgetmenotinitiative.org)
  • Differentially expressed genes of CD11b+Gr-1+ immature myeloid cells (IMCs) in the bone marrow and colonic tumor setting of histidine decarboxylase (HDC)-KO mice were examined by microarray (Affymetrix Mouse 430.2 array). (gsea-msigdb.org)
  • The HSD11B2 gene (OMIM 614232) encodes the isoenzyme that is expressed in the kidney and which plays a particularly important role in blood pressure regulation. (richardvigilantebooks.com)
  • This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. (cancerindex.org)
  • This gene encodes a HEAT-domain-containing protein. (utsouthwestern.edu)
  • This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. (utsouthwestern.edu)
  • This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. (antibodies-online.com)
  • These decreases in Apoa1, Apoa2, and Apoc3 expression were verified by quantitative polymerase chain reaction analysis, which also revealed downregulation of the expression of the circadian clock (Per2, Dbp, and Nr1d1) and steroidogenic (StAR, Cyp11a1, and Hsd17b3) genes. (tmu.edu.tw)
  • The expression of circadian clock genes was relatively stable in WT mice over a 20-h period, whereas there was clear circadian rhythmic expression of Apoa1, Apoa2, Apoc3, StAR, Cyp11a1, Hsd3b2, and Hsd17b3. (tmu.edu.tw)
  • Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. (eurospe.org)
  • See also {614327} for a tumor predisposition syndrome that may contribute to the development of malignant mesothelioma upon asbestos exposure and is caused by germline mutation in the BAP1 gene ( OMIM ) on chromosome 3p21. (mendelian.co)
  • This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. (cancerindex.org)
  • In total, 12 steroids were quantified in 50% (v/v) methanol in water by liquid chromatography-tandem mass spectrometry (LC-MS/MS). The expression of genes encoding steroidogenic enzymes was assessed by quantitative PCR (qPCR). (bham.ac.uk)
  • Hover over the node can see the symbol/gene ID it represents. (ihb.ac.cn)
  • Transcript levels of the androgen receptor (AR)-regulated gene Rhox5 were decreased at the end of the culture period, suggesting that testosterone production by Leydig cells and/or AR transcriptional activity was impaired in organotypic cultures ( 8 ). (elifesciences.org)
  • Three transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
  • 8. Rosler A, Silverstein S, Abeliovich D. A (R80Q) mutation in 17 betahydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. (degruyter.com)
  • Exploration of steroidogenesis-related genes in testes, ovaries, adrenals, liver and adipose tissue in pigs. (inra.fr)
  • The CYP21 and HSD17B3 genes, were expressed respectively only in adrenals and only in testes. (inra.fr)
  • However, the expression of genes involved in the sulfonation of steroids was higher in testes than in adrenals from males. (inra.fr)
  • Main differences between ovaries and testes were observed for HSD17B1/2/3, AKR1C-pig6 and sulfotransferase genes (SULT2A1/SULT2B1). (inra.fr)
  • The cholesterol metabolism pathway was significantly enriched in the KEGG pathway analysis, and there was lower expression of three apolipoprotein genes (Apoa1, Apoa2, and Apoc3) at CT2 in the testes of Bmal1−/− mice than in those of WT mice. (tmu.edu.tw)
  • However, restricted feeding in Holstein bull calves in the first 3 wk of life reduced average daily gain (ADG) and resulted in bulls that were lighter and had lower testosterone concentrations at 10 wk, than calves fed and and gene expression starts reducing with enhanced androgen receptor (and in mice, lowered Sertoli cell proliferation, resulting in 70% reduction in testes size. (forgetmenotinitiative.org)
  • We subsequently conducted systems level analyses by examining gene network dynamics between the sexes using weighted gene coexpression network analysis. (biomedcentral.com)
  • The lab investigates mechanisms of RNA mediated epigenetic gene regulation by employing a combination of biochemistry, cell and molecular biological methods, and genome wide approaches. (lncrnablog.com)
  • Other traits show sex bias in which they are displayed by both males and females but on average show higher expression in one sex (e.g. some behaviors, context-dependent hormone and gene regulation). (biomedcentral.com)
  • However, whether the circadian clock regulates testosterone production via other genes remains unknown. (tmu.edu.tw)
  • Using Bmal1−/− mice and their wild-type (WT) siblings, we aimed to identify additional genes by which the circadian clock regulates testosterone synthesis. (tmu.edu.tw)
  • Considering the vital role of Apo genes in high-density lipoprotein formation and cholesterol transport, the present data suggest that the circadian clock system regulates testosterone production by orchestrating the rhythmic expression of Apo genes. (tmu.edu.tw)
  • Please note that Quest offers a variety of single gene and gene panel testing. (questwomenshealth.com)
  • For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. (questwomenshealth.com)
  • Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. (utsouthwestern.edu)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • PPI (protein-protein interaction) results of marker genes and potential marker genes are shown on the left. (ihb.ac.cn)
  • Myeloid differentiation-related candidate genes were sought to be isolated and functionally studied. (gsea-msigdb.org)
  • Because we showed that integration neither affects the levels of viral genes, nor those of virally disrupted human genes, a genome-wide screen was performed to identify human genes which expression is influenced by viral integration and have clinical relevance. (cancerindex.org)
  • A possible mechanism is through regulating specific brain gene networks. (biomedcentral.com)
  • Surprisingly, only 61 genes (approximately 0.4% of genes analyzed) showed a significant sex effect across all four strains, and 48 of these differences were male-biased. (biomedcentral.com)