NR3C2 antibody - C-terminal region (P100726_P050)
- Known as:
- NR3C2 (anti-) - C-terminal region (P100726_P050)
- Catalog number:
- p100726_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- NR3C2 antibody - C-terminal region (P100726_P050)
Related genes to: NR3C2 antibody - C-terminal region (P100726_P050)
- Gene:
- NR3C2 NIH gene
- Name:
- nuclear receptor subfamily 3 group C member 2
- Previous symbol:
- MLR
- Synonyms:
- MR
- Chromosome:
- 4q31
- Locus Type:
- gene with protein product
- Date approved:
- 1988-08-19
- Date modifiied:
- 2015-11-18
Related products to: NR3C2 antibody - C-terminal region (P100726_P050)
Related articles to: NR3C2 antibody - C-terminal region (P100726_P050)
- Pseudohypoaldosteronism (PHA) is a rare disorder characterized by renal resistance to mineralocorticoids, leading to hyperkalemia, hyponatremia, and metabolic acidosis. It is primarily classified into type I (PHAI), with subtypes including renal (caused by mutation), systemic (caused by mutations), and secondary forms, and type II (PHAII), which is commonly associated with mutations in genes involved in the WNK signaling pathway (). However, comprehensive cohorts delineating the clinical and genetic spectrum of PHA in Chinese children are lacking. - Source: PubMed
Publication date: 2026/02/26
Wu ZiyingLi JunzanSheng HuiyingLi XiuzhenHuang ZienLiang CuiliMei HuifenLin YuntingLi TaolinZhang WenXu Aijing - Healthy aging is a complex process influenced by genetic, environmental, and lifestyle factors. Although prior genetic studies have identified loci associated with longevity, replication has often been limited by strong non-genetic influences. To investigate the genetic contributors to healthy aging, we performed a genome-wide association study (GWAS) and pathway analyses in 597 Super Seniors-individuals aged ≥ 85 years with no history of cancer, cardiovascular disease, diabetes, dementia, or major pulmonary disease-compared to 420 mid-life population-based controls that represent the population before selection for survival from age-related disorders. Candidate variant analyses confirmed known associations at the APOE locus, where APOE4 carriers had reduced odds of healthy aging (P = 0.0025), with stronger effects in females (P = 8.82 × 10⁻). Several FOXO3 variants (rs10457180, rs13217795, rs2802292) showed nominal associations with increased odds of being a Super Senior, again primarily among females. The GWAS, conducted on 8 million imputed variants, identified no genome-wide significant variants; however, suggestive associations were observed at the EMG1/LPCAT3/C1S, AHI1, OR10P1, TRPC4, NR3C2, and IGFBP7 loci. The most significant locus, EMG1/LPCAT3/C1S, has been linked to red blood cell fatty acid levels, lipid homeostasis, atherosclerosis, and insulin resistance-processes relevant to healthy aging. Candidate pathway analyses identified significant enrichment after FDR correction in six key aging-related signaling pathways: PI3K-AKT (FDR = 0.0016), cellular senescence (FDR = 0.011), insulin (FDR = 0.012), autophagy (FDR = 0.017), p53 (FDR = 0.017), and mTOR (FDR = 0.027). Genome-wide pathway analysis further highlighted both known and novel genetic pathways influencing healthy aging. - Source: PubMed
Publication date: 2026/04/11
Hoque RawnakLeach StephenBrooks-Wilson Angela - Aldosterone synthase deficiency (ASD), which is caused by a genetic defect in CYP11B2, involves a deficiency in aldosterone alone. Newborn and early childhood ASD patients can present with salt-wasting symptoms. In severe cases, this can lead to shock and be life-threatening. ASD must also be differentiated from another disease, pseudohypoaldosteronism type 1 (PHA1), which involves resistance to aldosterone. PHA1 can be classified into PHA1a, PHA1b, and secondary PHA1. PHA1a is caused by a heterozygous defect in NR3C2, which encodes the mineralocorticoid receptor. PHA1b is an autosomal recessive disorder caused by defects in the 3 epithelial sodium channel subunits α, β, and γ, encoded by SCNN1A, SCNN1B, and SCNN1G. Since ASD is a very rare disorder, the "The Intractable Adrenal Disorders Research by the Ministry of Health, Labour, and Welfare" developed the "Diagnostic criteria and severity classification for aldosterone synthase deficiency" to better understand the disorder. The criteria are as follows: Clinical symptoms: patient meets criteria 1 and 2. 1) Presents with salt-wasting symptoms (poor feeding, vomiting, dehydration, poor weight gain). 2) No skin pigmentation. Laboratory findings: patient meets criteria 1 through 3. 1) Low serum sodium and high serum potassium. 2) Low to normal plasma aldosterone and high plasma renin activity or high plasma active renin concentration. 3) No low blood cortisol level. Diagnoses of exclusion include PHA1, 21-hydroxylase deficiency, congenital lipoid adrenal hyperplasia, and congenital adrenal hypoplasia. We believe that the diagnostic criteria of ASD will enable clinicians and researchers to better understand congenital aldosterone deficiency. - Source: PubMed
Publication date: 2026/03/27
Tajima ToshihiroAmano NaokoIshii TomohiroOtuski MichioKatabami TakuyukiKashimada KenichiHasegawa TomonobuMukai TokuoYoshida YuichiShibata Hirotaka - The hypothalamic-pituitary-adrenal (HPA) axis coordinates metabolic, immune, and behavioral responses to a changing environment. Its molecular effectors are the nuclear receptors for glucocorticoids and mineralocorticoids (the GRs/MRs), encoded by /. The MR serves as the high-affinity sensor of basal hormone concentrations, whereas the GR amplifies the stress response and mediates negative feedback. Despite their shared domain architecture, the receptors have diverged functionally: isoform composition, post-translational modifications, and the complement of co-regulators together determine which genes are activated or repressed in a given tissue at a given time. The regulation of the HPA axis activity is a major determinant of embryonic development. Pregnancy adds a placental control layer that meters maternal signals: 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) in the syncytiotrophoblast inactivates cortisol, whereas 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) can regenerate it, and systemic buffering by transcortin (cortisol-binding globulin, CBG) limits the free hormone fraction. Under stress, inflammation, or hypoxia, this barrier weakens, exposing the fetus to stronger glucocorticoid pulses during windows of heightened vulnerability for brain and immune development. Such overexposure not only reshapes ongoing transcription but is also epigenetically inscribed: the methylation of alternative promoters, the remodeling of histones, and the shifts in ncRNA profiles recalibrate the axis sensitivity for the long term. At the phenotypic level, this manifests as variability in stress reactivity, cognitive and affective trajectories, and an immune and metabolic risk across later ontogeny. In this review, we integrate evidence on the structure and functions of the GR, the mechanisms of its post-translational and epigenetic regulation, and the role of the placenta, to provide a coherent framework for understanding the multifaceted consequences of prenatal stress and to identify potential targets for early prevention. - Source: PubMed
Publication date: 2026/03/22
Potapova SofiyaIsakov YanTyulkova EkaterinaVetrovoy Oleg - Azathioprine (AZA), a widely used immunosuppressant, can induce acute pancreatitis (AP), yet the underlying molecular mechanisms remain unclear. This study employed an integrative multiomics strategy-combining network toxicology, machine learning, Mendelian randomization (MR), and molecular docking-to elucidate the biological basis of AZA-induced AP. AZA-associated genes were first identified through bioinformatics databases and analyzed using protein-protein interaction networks and GO/KEGG functional enrichment. Least absolute shrinkage and selection operator (LASSO) regression and support vector machine recursive feature elimination (SVM-RFE) were applied to prioritize key differentially expressed genes for diagnostic modeling. MR was then used to examine potential causal links between gene expression and AP risk, followed by molecular docking to assess AZA-protein interactions. Sixty-eight candidate genes related to AZA-induced AP were identified. Enrichment analyses indicated involvement in lipid metabolic regulation, inflammatory pathways, and energy homeostasis. Machine learning highlighted seven key genes-CES1, CTSK, JAK1, NR3C2, PLIN5, WEE1, and RORA-as central to AP development. MR analysis further demonstrated that decreased expression of CES1 and CTSK may mediate AZA-related AP susceptibility. Docking simulations revealed strong, specific binding between AZA and both CES1 and CTSK. Overall, this study identifies CES1 and CTSK as genetically protective factors and mechanistic mediators in AZA-triggered AP. These findings offer new molecular insights into the genomic and biochemical pathways underlying this adverse drug reaction. - Source: PubMed
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