2024年12月25日 · NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2) is a Protein Coding gene. Diseases associated with NR3C2 include Pseudohypoaldosteronism, Type I, Autosomal Dominant and Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy.Among its related pathways are Gene expression (Transcription) …

In particular, NR3C2 gene mutations are involved in autosomal dominant PHA1, a relatively mild form of the condition that can improve in childhood. Mutations in the NR3C2 gene lead to a nonfunctional or abnormally functioning mineralocorticoid receptor protein that cannot properly regulate the specialized proteins that transport sodium and ...

NR3C2 rs5522 affects blood pressure response to enalapril treatment and may serve as a useful pharmacogenomic marker of antihypertensive response to enalapril in essential hypertension patients. Our data confirmed that treatment-resistant depression is associated with hypercortisolism and possible mineralocorticoid receptor malfunctioning, such ...

Title: NR3C2 inhibits the proliferation of colorectal cancer via regulating glucose metabolism and phosphorylating AMPK. NR3C2 mediates oxidised low-density lipoprotein-induced human coronary endothelial cells dysfunction via modulation of NLRP3 inflammasome activation.

NR3C2, or mineralocorticoid receptor (MR), belongs to the nuclear receptor superfamily and functions as a ligand-dependent transcription factor that mediates the effects of aldosterone on a variety of target tissues, including the distal parts of the nephron, the distal colon, the cardiovascular and central nervous systems, and brown adipose ...

Abstract. Background: The NR3C2 gene encodes the mineralocorticoid receptor, which is present on cardiomyocytes. Prior studies reported an association between the presence of NR3C2 single-nucleotide polymorphisms (SNPs) and an increased cortisol production during a stress response such as acute myocardial infarction (AMI), which may lead to adverse cardiac remodeling.

Transmitted variants in the NR3C2 gene were observed in three multiplex ASD families from the iHART cohort in Ruzzo et al., 2019; phenotypic characterization of probands from these three families found striking phenotypic similarities defining a new syndromic form of ASD characterized by metacarpal hypoplasia, a high arched palate, sensory ...

2024年5月21日 · NR3C2 may be a key participant in NSCLC development and progression and is closely associated with the tumor microenvironment and immune cell infiltration. NR3C2 co-expressed genes are involved in many cancer-related signaling pathways, further supporting a potentially significant role of NR3C2 in NSCLC.

2024年5月21日 · The altered expression and methylation of NR3C2 have clear and specific diagnostic and prognostic values in NSCLC, LUAD, and LUSC; NR3C2 expression should be regulated by copy number variations in NSCLC and LUAD, whereas regulated by promoter methylation in LUSC; NR3C2 is a functional key participant in NSCLC development, which is …

ClinVar: NR3C2. Ensembl: ENSG00000151623. IUPHAR-DB: 626. Reactome: P08235. LOVD: NR3C2. Diseases List. Disease-causing germline mutation(s) (loss of function) in Renal pseudohypoaldosteronism type 1 ORPHA:171871: Assessed Additional information. Patient-centred resources for this disease ...