• 3-Beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a rare form of congenital adrenal hyperplasia that results in decreased production of all three groups of adrenal steroids: mineralocorticoids, glucocorticoids, and sex steroids. (medscape.com)
  • Although first described in male infants with ambiguous genitalia and severe salt wasting, 3-beta-hydroxysteroid dehydrogenase deficiency also occurs in 46,XX female infants (who may have mild clitoromegaly), as well as in older patients who present with a milder or so-called late-onset variant. (medscape.com)
  • A variety of mutations in the HSD3B2 gene affect the activity of this enzyme, resulting in the extremely variable, phenotypic presentations of 3-beta-hydroxysteroid dehydrogenase deficiency. (medscape.com)
  • Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). (nih.gov)
  • It is caused by deficiency of 11β-hydroxysteroid dehydrogenase, which results in a defect of the peripheral metabolism of cortisol to cortisone. (richardvigilantebooks.com)
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. (richardvigilantebooks.com)
  • hydroxysteroid dehydrogenase type 2 deficiency. (cdc.gov)
  • New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzym. (medscape.com)
  • Subramaniam P, Clayton PT, Portmann BC, Mieli-Vergani G, Hadzic N. Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. (medscape.com)
  • Simard J, Moisan AM, Morel Y. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. (medscape.com)
  • Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia. (medscape.com)
  • 3alpha-Hydroxysteroid dehydrogenase type III deficiency: a novel mechanism for hirsutism. (medscape.com)
  • Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency. (medscape.com)
  • Nordenström A, Forest MG, Wedell A. A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis. (medscape.com)
  • Jeandron DD, Sahakitrungruang T. A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3ß-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency. (medscape.com)
  • Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency. (medscape.com)
  • The molecular basis of cortisone reductase deficiency, the putative "11beta-HSD1 knockout state" in humans, has been defined and is caused by intronic mutations in HSD11B1 that decrease gene transcription together with mutations in hexose-6-phosphate dehydrogenase, an endoluminal enzyme that provides reduced nicotinamide-adenine dinucleotide phosphate as cofactor to 11beta-HSD1 to permit reductase activity. (ox.ac.uk)
  • 11β-Hydroxysteroid dehydrogenase type 1, also known as cortisone reductase, is an NADPH-dependent enzyme highly expressed in key metabolic tissues including liver, adipose tissue, and the central nervous system. (wikipedia.org)
  • The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. (wikipedia.org)
  • This condition is due to defects in type II 3-beta-hydroxysteroid dehydrogenase, an enzyme that occurs almost exclusively in the gonads and adrenal glands. (medscape.com)
  • The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. (nih.gov)
  • The enzyme 11-beta-hydroxysteroid dehydrogenase (EC 1.1. (richardvigilantebooks.com)
  • Licorice influences cortisol production by inhibiting the enzyme 11-beta-hydroxysteroid dehydrogenase. (richardvigilantebooks.com)
  • The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. (richardvigilantebooks.com)
  • Hydroxysteroid (17β) dehydrogenases (HSD17Bs) form an enzyme family characterized by their ability to catalyze reactions in steroid and lipid metabolism. (richardvigilantebooks.com)
  • Increased insulin secretion is also obtained by incubation with the inactive glucocorticoid dehydrocorticosterone, pointing to an important role of the enzyme 11beta-hydroxysteroid dehydrogenase type 1 in mediating glucocorticoid effects in beta-cells. (ox.ac.uk)
  • The human body regulates cortisol by employing an enzyme called 11 beta-hydroxysteroid dehydrogenase-type 1 or 11beta-HSD1, which catalyzes the synthesis of cortisol in liver and fat cells. (scienceblog.com)
  • A related enzyme known as 11 beta-HSD-type3 or 11 beta-HSD3 is expressed in the brain, though its utility remains unknown. (scienceblog.com)
  • Interestingly, Baker found that the genomes of mice and rats do not contain 11 beta-HSD3, which means that inserting the appropriate gene for the enzyme in these animal models could provide additional avenues of investigation. (scienceblog.com)
  • Comment: Microsomal enzyme 11-beta-hydroxysteroid dehydrogenase type 1 (11-beta-HSD-1) required for cortisone conversion to its active metabolite, cortisol, in hepatic and adipose tissue. (sideload.com)
  • G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS). (biomedcentral.com)
  • 11βHSD1 is an ER-bound enzyme catalyzing the conversion of inactive cortisone in active cortisol in humans. (biomedcentral.com)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Ras Homolog Gene Family, Member A (RHOA) in Tissue homogenates, cell lysates and other biological fluids. (hiv-pharmacogenomics.org)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Ras Homolog Gene Family, Member A (RHOA) in samples from Tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species. (hiv-pharmacogenomics.org)
  • We speculate that hexose-6-phosphate dehydrogenase activity and therefore reduced nicotinamide-adenine dinucleotide phosphate supply may be crucial in determining the directionality of 11beta-HSD1 activity. (ox.ac.uk)
  • 11βHSD1 requires NADPH as a cofactor generated by the hexose-6-phosphate dehydrogenase (H6PDH)-mediated conversion of glucose 6-phosphate (G6P) to 6-phosphogluconactone (6PGL) [ 10 ]. (biomedcentral.com)
  • Several homozygous mutations in the gene after 11 beta-hydroxysteroid dehydrogenase prototype 2 in pertinaciouss with apparent mineralocorticoid excess. (ika.ie)
  • 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)
  • Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. (medscape.com)
  • Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (medscape.com)
  • Changes in genes (mutations). (medlineplus.gov)
  • It is encoded by the HSD11B1 gene. (wikipedia.org)
  • Human HSD11B1 genome location and HSD11B1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • One of the most upregulated genes in OM but not in SC cells was HSD11B1. (ox.ac.uk)
  • We investigated five associated genes ( PPARGC1A , CAMKMT , HSD11B1 , SLC6A4 , and MAOA ) previously linked to depression and anxiety in other populations. (omjournal.org)
  • The MDR superfamily with ~350-residue subunits contains the classical liver alcohol dehydrogenase (ADH), quinone reductase, leukotriene B4 dehydrogenase and many more forms. (researchgate.net)
  • Therapeutic inhibition of 11beta-HSD1 reductase activity in patients with obesity and the metabolic syndrome, as well as in glaucoma and osteoporosis, remains an exciting prospect. (ox.ac.uk)
  • Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. (wikipedia.org)
  • C/EBPbeta was highly expressed both in SC and in OM preadipocytes, but was not regulated by F. Our results provide insight into the genes involved in the regulation of adipocyte differentiation by cortisol, highlighting the depot specifically in human adipose tissue. (ox.ac.uk)
  • 11β-Hydroxysteroid dehydrogenase (HSD-11β or 11β-HSD) enzymes catalyze the conversion of inert 11 keto-products (cortisone) to active cortisol, or vice versa, thus regulating the access of glucocorticoids to the steroid receptors. (richardvigilantebooks.com)
  • 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) interconverts inactive cortisone and active cortisol. (ox.ac.uk)
  • That makes the fish a potentially useful analog for cortisol studies, including discovering the purpose and function of 11 beta-HSD3 in human brains, which may be an evolutionary precursor to 11 beta-HSD1. (scienceblog.com)
  • A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. (medscape.com)
  • Psychosocial stress is hypothesized to dysregulate the HPA axis through hypersecretion of cortisol, but the results of previous studies among pregnant women are conflicting in this respect [11-13]. (researchsquare.com)
  • Expression profiling of 11beta-hydroxysteroid dehydrogenase type-1 and glucocorticoid-target genes in subcutaneous and omental human preadipocytes. (ox.ac.uk)
  • The aim of this study was to identify depot-specific glucocorticoid-target genes in adipocyte precursor cells (preadipocytes) using Affymetrix microarray technique. (ox.ac.uk)
  • At the cellular level, the actions of glucocorticoids are mediated by a 94-kd protein, the glucocorticoid receptor (GR). The human (h) GR belongs to the steroid/thyroid/retinoic acid superfamily of nuclear receptors and functions as a ligand-dependent transcription factor that regulates the expression of glucocorticoid-responsive genes positively or negatively. (medscape.com)
  • A) Schematic representation of the structure of the human glucocorticoid receptor (hGR) gene. (medscape.com)
  • The DNA-binding domain (DBD) of the hGRα corresponds to amino acids 420-480 and contains 2 zinc finger motifs through which the hGRα binds to specific DNA sequences, the glucocorticoid-response elements (GREs) in the promoter region(s) of target genes. (medscape.com)
  • Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (nih.gov)
  • Alternative splicing of the primary transcript gives rise to the 2 mRNA and protein isoforms, hGR-alpha and hGR-beta. (medscape.com)
  • Alternative splicing of the hGR gene in exon 9 generates 2 highly homologous receptor isoforms, termed α and β. (medscape.com)
  • Conversely, 11β-HSD1 null mice exhibit a protective glycemic, lipid, and lipoprotein profile and show increased expression of hepatic mRNAs encoding regulators of fatty acid beta-oxidation. (biomedcentral.com)
  • Salicylate downregulates 11β-HSD1 expression in adipose tissue in obese mice and hence may explain why aspirin improves glycemic control in type 2 diabetes. (wikipedia.org)
  • Agarwal, AK 2001, ' Transcriptional influence of two poly purine-pyrimidine tracts located in the HSD11B2 (11beta-hydroxysteroid dehydrogenase type 2) gene ', Endocrine Research , vol. 27, no. 1-2, pp. 1-9. (elsevierpure.com)
  • Association between a variant in the 11 beta-hydroxysteroid dehydrogenase type 2 gene and primary hypertension. (cdc.gov)
  • Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy. (cdc.gov)
  • 11ß-Hydroxysteroid dehydrogenase type 2 in hypertension: comparison of phenotype and genotype analysis. (cdc.gov)
  • Depending on the type of cell the steroids are in, this activation can change how certain genes behave - especially the ones that control the changes that happen during puberty. (sideload.com)
  • 6 observed that 17-β-hydroxysteroid dehydrogenase type 2 (17β-HSD2), the activity of which transforms oestradiol to less potent oestrogen (oestrone) and is stimulated by progesterone in endometrial glands, was significantly reduced in endometriotic tissue during the luteal phase, along with markedly repressed levels of immunoprecipitable PGR throughout the menstrual cycle. (emjreviews.com)
  • Precise diagnosis of C. innocuum is necessary because of its unique intrinsic resistance to vancomycin, presumably caused by the presence of 2 chromosomal genes that enable the synthesis of a peptidoglycan precursor terminating in serine with low vancomycin affinity ( 9 , 11 ). (cdc.gov)
  • Find data in MPD that are associated with a particular mouse gene or chromosomal region. (jax.org)
  • After 10 weeks, exercised and non-exercised males were sampled to determine plasma 11-ketotestosterone levels, testicular mRNA expression levels of genes involved in steroidogenesis and gametogenesis by qPCR, as well as the relative abundance of germ cells representing the different spermatogenic stages by histological examination. (biomedcentral.com)
  • There are two such repeat elements in the HSD11B2 (11β-hydroxysteroid dehydrogenase) gene. (elsevierpure.com)
  • The CA repeat along with its flanking sequences increases luciferase reporter gene expression if placed 5′ of the HSD11B2 promoter but not when placed downstream of the reporter gene. (elsevierpure.com)
  • Similarly the second APP tract increases luciferase reporter gene expression when placed 5′ of the HSD11B2 promoter in an antisense orientation but not in a sense orientation. (elsevierpure.com)
  • These results suggests that these dinucleotide repeats influence expression of the HSD11B2 gene in a manner dependent on position and orientation. (elsevierpure.com)
  • 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)
  • Two transcript variants encoding the same protein have been found for this gene. (wikipedia.org)
  • Variants in the SMCHD1 gene on chromosome 18, which encodes a protein known as structural maintenance of chromosomes flexible hinge domain containing 1, have been associated with FSHD2. (arkansasbluecross.com)
  • Description: Quantitativesandwich ELISA kit for measuring Human Tumor susceptibility gene 101 protein (TSG101) in samples from serum, plasma, tissue homogenates, cell lysates. (1elisakits.com)
  • Description: Quantitative sandwich ELISA for measuring Human Tumor susceptibility gene 101 protein (TSG101) in samples from cell culture supernatants, serum, whole blood, plasma and other biological fluids. (1elisakits.com)
  • Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. (medscape.com)
  • Reduction of IL-6 gene expression in human adipose tissue after sleeve gastrectomy surgery. (uchicago.edu)
  • Reference Gene Optimization for Circadian Gene Expression Analysis in Human Adipose Tissue. (uchicago.edu)
  • The increased 11β-HSD1 activity in adipose tissue in obese rats and in some but not all studies of obese humans causes visceral obesity and its metabolic consequences [ 3 ]. (biomedcentral.com)
  • Knowing what we know, we should be making diagnoses by looking at the messages from genes," he asserted, adding that it's time to embrace precision medicine. (medscape.com)
  • Recent studies in humans and rodents suggest a role of 11β-hydroxysteroid dehydrogenase (11β-HSD) in the development of idiopathic obesity and MS [ 2 ]. (biomedcentral.com)
  • The independent t -test was used to check the significance of difference between the expression levels of target genes where the control was set at a reference level of 1.0. (omjournal.org)
  • An apparent pseudogene of this gene is present on chromosome 8. (nih.gov)
  • 8] The hGR gene is one locus on the long arm of chromosome 5 (q31.3) and consists of 9 exons. (medscape.com)
  • Short-chain dehydrogenases/reductases (SDRs) constitute a large family of NAD(P)(H)-dependent oxidoreductases, sharing sequence motifs and displaying similar mechanisms. (researchgate.net)
  • Mouse model with selective liver 11β-HSD1 overexpression show IR, dyslipidemia, and hypertension, but unaltered adiposity. (biomedcentral.com)
  • Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. (nih.gov)
  • Older patients with mild defects in 3-beta-hydroxysteroid dehydrogenase activity (late-onset or nonclassic variant) may present with premature pubic hair development, hirsutism, irregular menstrual cycles or primary amenorrhea. (medscape.com)
  • The invention relates to "compounds, compositions, and methods for the study, diagnosis, and treatment of traits, diseases and conditions that respond to the modulation of 11 beta-hydroxysteroid dehydrogenase-1 gene expression and/or activity," the patent application's abstract states. (genomeweb.com)
  • The invention "is also directed to compounds, compositions, and methods relating to traits, diseases and conditions that respond to the modulation of expression and/or activity of genes involved in 11 beta-hydroxysteroid dehydrogenase-1 gene expression pathways or other cellular processes that mediate the maintenance or development of such traits, diseases, and conditions. (genomeweb.com)
  • Acetaldehyde dehydrogenase 2 (ALDH2) enzymatic activity is involved in this process. (bvsalud.org)
  • Transcript profiling revealed differential regulation of genes involved in mediation of signal transduction, insulin secretion, stress and inflammatory responses. (ox.ac.uk)
  • Studies of 3 beta-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels. (medscape.com)
  • In contrast to animal models of insulin resistance, beta-cells from lean mice respond with an increased glucose-stimulated insulin secretion, with a peak effect around 18-24h of treatment. (ox.ac.uk)
  • It upregulated the declined level of serum testosterone and the expression of steroidogenic genes such as CYP11A1 and 17β3-HSD with an obvious histologic improvement of the testes with re-establishment of the normal spermatogenic series, Sertoli and Leydig cells. (biomedcentral.com)
  • In new findings to be published in the June 3 issue of FEBS Letters , Baker, a research professor of medicine who works in the division of nephrology-hypertension at UC San Diego's School of Medicine, reports that 11 beta-HSD3 (but not 11 beta-HSD1) is present in zebrafish, where it appears to serve an important role in fish endocrine physiology. (scienceblog.com)
  • HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment. (nih.gov)
  • Zinc binding to the peptide replica and analogs to residues 93-115 of horse liver alcohol dehydrogenase (ADH) was examined by competition of the peptides and the chromophoric chelator 4-(2- pyridylazo)resorcinol for zinc and X-ray absorption fine structure analysis of the zinc ligands. (researchgate.net)
  • Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms. (mpg.de)
  • The human gene for 11 beta-hydroxysteroid dehydrogenase. (wikipedia.org)
  • Quantification of aromatase binding in the female human brain using [ 11 C]cetrozole positron emission tomography. (uu.se)
  • 1, 2, 3] Approximately 20% of the genes expressed in human leukocytes are regulated positively or negatively by glucocorticoids. (medscape.com)
  • Description: A sandwich ELISA kit for detection of Tumor Susceptibility Gene 101 from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (1elisakits.com)
  • Description: A sandwich quantitative ELISA assay kit for detection of Human Ras Homolog Gene Family, Member A (RHOA) in samples from tissue homogenates, cell lysates or other biological fluids. (hiv-pharmacogenomics.org)
  • Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11? (cdc.gov)
  • Here, we aimed to analyze the relationship between an ALDH2 gene polymorphism and the digestive tract cancer risk in the Hakka population in China. (bvsalud.org)
  • Among these genes, serotonin transporter gene promoter polymorphism ( SLC6A4) was strongly associated with neuroticism as a personality trait characterized by depression and anxiety and other negative emotions. (omjournal.org)
  • Hydroxysteroid dehydrogenases (HSDs) or oxidoreductases catalyze the interconversion of alcohol and carbonyl functions in a position- and stereospecific manner on the steroid nucleus and side chain, using oxidized (+) or reduced (H) nicotinamide adenine dinucleotide, NAD(H), or NADP(H) as cofactors. (richardvigilantebooks.com)
  • Hydroxysteroid dehydrogenases (HSDs) are a group of alcohol oxidoreductases that catalyze the dehydrogenation of hydroxysteroids. (richardvigilantebooks.com)
  • BACKGROUND: Although it is known that variation in the aldehyde dehydrogenase 2 (ALDH2) gene family influences the East Asian alcohol flushing response, knowledge about other genetic variants that affect flushing symptoms is limited. (bvsalud.org)
  • Additionally, we identified variants in the alcohol dehydrogenase 1B (ADH1B) gene region associated with alcohol flushing. (bvsalud.org)
  • ADH is a dimeric zinc metalloprotein and occurs as five different classes in humans, resulting from gene duplications during vertebrate evolution, the first one traced to ~500. (researchgate.net)
  • A comprehensive genetic study found that the CAMKMT gene has a significant association with anxiety phenotypes in a large sample of patients with European ancestry. (omjournal.org)
  • What is the role of hydroxysteroid ( 17β ) dehydrogenase 13? (richardvigilantebooks.com)
  • In the past, however, a redundancy between the activities of subgroup members of the ALDH family has hampered the search for conclusive evidence to address the role of specific ALDH genes. (bvsalud.org)
  • These results open several possibilities for further research to study the role of this gene as a protective factor against developing depression. (omjournal.org)
  • 11,12 Hettema et al, 13 highlighted the role of the PPARGC1A gene as a potential susceptibility gene for anxiety-related disorders. (omjournal.org)
  • In this review, we discuss both the genetic and enzymatic characterization of 11beta-HSD1, as well as describing its role in physiology and pathology in a tissue-specific manner. (ox.ac.uk)
  • We speculate a possible role of 11βHSD1 modulation by G6P availability. (biomedcentral.com)
  • 11 As the reasoning goes, analysis of a thousand individuals make uncover the collaborative variants with the strongest upshot on phenoclassification. (ika.ie)
  • The mechanisms involve both direct effects on target gene expression in the insulin signaling pathway and the alteration of other key transcriptional regulators of lipid homeostasis [ 4 ]. (biomedcentral.com)
  • Description: A sandwich ELISA kit for detection of Ras Homolog Gene Family, Member A from Rat in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (hiv-pharmacogenomics.org)
  • FSHD is likely to be caused by inappropriate expression of the gene DUX4 in muscle cells. (arkansasbluecross.com)
  • In particular, people who carry a specific variant of the ZNF789 gene may have above-average dehydroepiandrosterone sulfate levels, compared to the rest of the population. (atlasbiomed.com)
  • It is a conjugated steroid converted by the sulfation of dehydroepiandrosterone (DHEA) at the 3β position via hydroxysteroid sulfotransferase. (cdc.gov)