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Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene
(Sbem-soc Brasil Endocrinologia & Metabologia, 2008-11-01)
The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by ...
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 geneSíndrome de excesso aparente de mineralocorticóide em um menino brasileiro causada pela mutação p.R186C em homozigose no gene HSD11B2
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex
(Elsevier Ireland, 2017-02)
We hypothesized that DNA methylation is involved in human adrenal functional zonation. mRNAsexpression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT)and in pediatric virilizing ...
Citosine-Adenine-Repeat Microsatellite of 11 beta-hydroxysteroid dehydrogenase 2 Gene in Hypertensive Children
(OXFORD UNIV PRESS, 2016)
BACKGROUND
Clinical and molecular spectrum of patients with 17 beta-hydroxysteroid dehydrogenase type 3 (17-beta-HSD3) deficiency
(Sbem-soc Brasil Endocrinologia & MetabologiaRio De Janeiro, RjBrasil, 2012)
HSD11B1 is upregulated synergistically by IFNγ and TNFα and mediates TSG-6 expression in human UC-MSCs
Inflammatory factors such as IFNγ and TNFα could endow mesenchymal stem cells (MSCs) a potent
immunomodulatory property, a process called licensing, but the mechanisms are not fully understood. We here
found that ...
Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasiaAspectos estruturais da mutação homozigótica p.P222Q do gene HSD3B2 em um paciente com hiperplasia congênita da adrenal
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010)
Bases Moleculares da Hiperplasia Adrenal CongênitaMolecular Bases of Congenital Adrenal Hyperplasia
(Sociedade Brasileira de Endocrinologia e Metabologia, 2002)
Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
(2018)
Background: Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). There is scarce information regarding the phenotypes of subjects carrying heterozygous pathogenic variants ...