Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersWhy boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiationGlucocorticoids: exemplars of multi-taskingEndoplasmic reticulum stress and Nox-mediated reactive oxygen species signaling in the peripheral vasculature: potential role in hypertensionCortisol metabolism and visceral obesity: role of 11beta-hydroxysteroid dehydrogenase type I enzyme and reduced co-factor NADPHHexose-6-phosphate dehydrogenase and 11beta-hydroxysteroid dehydrogenase-1 tissue distribution in the ratEvidence that the 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD1) is regulated by pentose pathway flux. Studies in rat adipocytes and microsomesEgg case protein-1. A new class of silk proteins with fibroin-like properties from the spider Latrodectus hesperus.Hexose-6-phosphate dehydrogenase modulates 11beta-hydroxysteroid dehydrogenase type 1-dependent metabolism of 7-keto- and 7beta-hydroxy-neurosteroidsEffect of Cyp27A1 gene dosage on atherosclerosis development in ApoE-knockout mice.Association between 11beta-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in Bosnian population.Testosterone improves the differentiation efficiency of insulin-producing cells from human induced pluripotent stem cells.Relative adrenal insufficiency in mice deficient in 5α-reductase 1Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.Diagnosis of diseases of steroid hormone production, metabolism and action.Reduction of hepatic glucocorticoid receptor and hexose-6-phosphate dehydrogenase expression ameliorates diet-induced obesity and insulin resistance in mice.Gender-dependent association of HSD11B1 single nucleotide polymorphisms with glucose and HDL-C levels11β-Hydroxysteroid dehydrogenase type 1: relevance of its modulation in the pathophysiology of obesity, the metabolic syndrome and type 2 diabetes mellitus.Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.Mendelian Inheritance in Man and its online version, OMIMSteroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiencyHexose-6-phosphate dehydrogenase in the endoplasmic reticulum.Cortisol biosynthesis in the human ocular surface innate immune response.Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.11beta-hydroxysteroid dehydrogenase type 1 as a novel therapeutic target in metabolic and neurodegenerative disease.Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolismThe return of metabolism: biochemistry and physiology of the pentose phosphate pathwayAssociation Analysis between the Polymorphisms of HSD11B1 and H6PD and Risk of Polycystic Ovary Syndrome in Chinese Population.G6PT-H6PDH-11βHSD1 triad in the liver and its implication in the pathomechanism of the metabolic syndrome.The adrenal.Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coveragePTGER1 and PTGER2 receptors mediate regulation of progesterone synthesis and type 1 11beta-hydroxysteroid dehydrogenase activity by prostaglandin E2 in human granulosa lutein cells.Genetic manipulation of 11beta-hydroxysteroid dehydrogenases in mice.Sexual precocity: a historical perspective and update.Inhibition of 11beta-HSD1 as a novel treatment for the metabolic syndrome: do glucocorticoids play a role?Involvement of GR and p300 in the induction of H6PD by cortisol in human amnion fibroblasts.Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.Mechanisms of disease: Selective inhibition of 11beta-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome.Lack of hexose-6-phosphate dehydrogenase impairs lipid mobilization from mouse adipose tissueTissue production of cortisol by 11beta-hydroxysteroid dehydrogenase type 1 and metabolic disease.
P2860
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P2860
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
description
2003 nî lūn-bûn
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2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
name
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en-gb
Mutations in the genes encodin ...... ortisone reductase deficiency.
@nl
type
label
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en-gb
Mutations in the genes encodin ...... ortisone reductase deficiency.
@nl
prefLabel
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en-gb
Mutations in the genes encodin ...... ortisone reductase deficiency.
@nl
P2093
P50
P356
P1433
P1476
Mutations in the genes encodin ...... ortisone reductase deficiency.
@en
P2093
Cedric H L Shackleton
Elizabeth A Walker
Ewa Malunowicz
Gareth G Lavery
Iwona J Bujalska
John M Connell
Martin Hewison
Nicole Draper
Oliver Bedendo
P2888
P304
P356
10.1038/NG1214
P407
P577
2003-08-01T00:00:00Z