SCNN1A Antibody

1. In the present study, the SCNN1G gene was associated with 24-h urinary sodium excretion but was not related to blood pressure. The SCNN1A and SCNN1B genes were not associated with blood pressure either. PMID: 29757959
2. mutation in the extracellular domain of alphaENaC causes Liddle syndrome by increasing intrinsic channel activity. PMID: 28710092
3. The mRNA and alpha-ENaC protein were overexpressed in platelets from hypertensive subjects versus control subjects. PMID: 27137675
4. The derlin-1 pathway therefore may represent a significant early checkpoint in the recognition and degradation of ENaC in mammalian cells. PMID: 28137758
5. Data show that the expression of aquaporin (AQP) 1, AQP3, AQP5, epithelial Na+ channel (ENaC) and sodium potassium ATPase (Na-K-ATPase) are altered in patients with acute respiratory failure (ARF) due to diffuse alveolar damage (DAD), and the cause of DAD does not seem to influence the level of impairment of these channels. PMID: 27835672
6. The data indicate that the Lhs1 chaperone selectively recognizes an immature form of alphaENaC, one which has failed to correctly assemble with the other channel subunits via its transmembrane domain. PMID: 27903760
7. LEFTY2 regulates the expression and activity of ENaC in endometrial epithelial cells via SGK1. PMID: 27606670
8. Carriage of the p.W493R-SCNN1A polymorphism has been identified as a risk factor for bronchiectasis, but it is not invariably associated with the phenotype of a hyperactive ENaC channel in the lung. PMID: 26453628
9. although subgroup analysis showed alpha-ENaC T663A polymorphism was associated with essential hypertension in North American individuals, these meta-analysis results did not confirm such association overall; conclude that Alpha-ENaC T663A polymorphism might not be a risk factor for essential hypertension PMID: 26318459
10. Neither bronchodilatory response nor bicycling time trial performance after salbutamol was affected by genotype at rs2228576. PMID: 25894531
11. Four nonsynonymous amino acid variants in SCNN1A in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was identified. PMID: 25900089
12. The rs4149570 and rs7956915 polymorphisms of SCNN1A might play important roles in the susceptibility to respiratory distress syndrome, particularly in term infants. PMID: 26611714
13. These results indicate that ENaC functions as a sensor for external Cd2+. PMID: 27045669
14. The transcriptional expression of alpha, beta, and gamma subunits of ENaC was elevated in nasal polyp compared to nasal mucosa PMID: 25559464
15. The long isoform of alphaENaC forms the structural basis of a channel with different activity and regulation, which may not be easily distinguishable in native tissue, but may underlie sodium hyperabsorption and salt sensitive differences in humans. PMID: 25517724
16. ENaC regulates miR-101/miR-199a-3p during embryo implantation with the involvement of CREB phosphorylation. PMID: 25187622
17. Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients PMID: 25339316
18. ASIC1A and ENaCalpha form functional heterotrimers acting as ion channels. PMID: 26032502
19. SCNN1A and SCNN1G SNPs may contribute to blood pressure changes over time in the Han Chinese population. PMID: 24735600
20. Skin hydration status regulates sodium homeostasis and inflammatory pathways through the epithelial sodium channel (ENaC). PMID: 25371970
21. It essentially participates in regulatory systems of blood pressure and normal gas exchange. PMID: 25242083
22. Increased CFTR expression and decreased ENaC-alpha expression in the decidua of early abortion may relate with failure of early pregnancy. PMID: 24914548
23. Cystic fibrosis-like disease probably has an oligogenic origin, resulting from mutations in several genes, including CFTR, SERPINA1, and SCNN1 isoforms. PMID: 23837941
24. In this study, authors found that miR-125b inhibits hepatitis B virus expression in vitro by regulating SCNN1A expression. PMID: 25173609
25. dexamethasone increases the transcript and protein expression of the alpha-, beta-, and gamma-ENaC subunits via the GR-SGK1-Nedd4-2 pathway and provides insight into the molecular mechanism of the increased sodium transport mediated by ENaC PMID: 24114932
26. Two novel mutations in the SCNN1A gene causing pseudohypoaldosteronism type 1 have been identified in two unrelated Chinese infants. PMID: 23762408
27. ENaC hyperactivity in cystic fibrosis airways is a direct consequence of acidic airway-surface-liquid (ASL) dehydration which can be reversed by raising ASL pH. PMID: 24043776
28. found a diminished expression of the three subunits of the ENaC in the membranes of preeclamptic placentas in comparison with the normal ones PMID: 23218889
29. WNK4 inhibits ENaC channel activity independently of Nedd4-2-mediated ENaC ubiquitination. PMID: 23594824
30. Data indicate that Grp170 (Lhs1 ortholog) coprecipitate with alphaENaC. PMID: 23645669
31. Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression. PMID: 22406554
32. ENaC in the vascular endothelium determines cellular mechanics and hence might participate in the control of vascular function. PMID: 23460285
33. None of the NO-donors had a significant effect on the expression of the ENaC subunits in the presence and absence of L-cysteine in cystic fibrosis airway epithelial cells. PMID: 23523754
34. The alpha subunit is essential for ENaC function and mutations truncating the pore-forming part of the protein leading to systemic pseudohypoaldosteronism type 1 PMID: 23416952
35. enetic variation of SCNN1A differentially affects the diffusing capacity in patients with Cystic fibrosis. PMID: 22776878
36. Ubiquitin-specific peptidase 8 (USP8) regulates endosomal trafficking of the epithelial Na+ channel PMID: 23297398
37. Data suggest that proteolytic activation of ENaC by plasmin may contribute to Na(+) retention and hypertension in preeclampsia. PMID: 22987920
38. study found that rhinovirus (RV) infection of primary human nasal epithelial cells enhanced the expression of CFTR, alpha-ENaC, beta-ENaC, and gamma-ENaC mRNA and protein; upregulated CFTR might be dysfunctional, whereas RV-upregulated ENaC was hyperfunctional PMID: 22374202
39. findings suggest that a helical conformation in its carboxyterminal part is functionally important to mediate ENaC inhibition by the alpha-13-mer peptide PMID: 22613977
40. G2139A, G3091A, T663A, and T3593C polymorphisms of alphaENaC gene may play an important role in the development of essential hypertension among Kazakhs in Xinjiang. PMID: 20078945
41. investigation of control of airway epithelial Na+ absorption via up-regulation/phosphorylation of ENaCalpha, ENaCbeta, and ENaCgamma involving SGK1 (serum-glucocorticoid regulated kinase 1) under control of glucocorticoid/dexamethasone PMID: 22250980
42. Multiple residues in the distal C terminus of the alpha-subunit have roles in modulating human epithelial sodium channel activity. PMID: 22573385
43. These results indicate a previously undefined role of ENaC in regulating the PGE production and release required for embryo implantation. PMID: 22729284
44. Genotype-phenotype correlations and new clinical and genetic entities that may prove relevant for patient's care in neonates with renal salt losing syndromes and/or failure to thrive. PMID: 21664233
45. Functional overexpression of voltage-sensitive sodium channel beta-subunits in prostate cancer may be one type of mechanism leading to increased metastatic behavior while decreasing the ability to form localized tumor masses. PMID: 22127840
46. A hyperactive variant p.W493R-SCNN1A of the epithelial sodium channel does not necessarily cause CF-like disease in a CF gene carrier, but its low frequency in CF parents suggests that it is a risk factor. PMID: 21917531
47. ENaC on motile cilia should be essential for diverse functions of motile cilia, such as germ cell transport, fertilization, implantation, clearance of respiratory airways and cell migration. PMID: 22207244
48. genetic variation of the alpha-subunit of ENaC at amino acid 663 influences lung diffusion at peak exercise in healthy humans PMID: 21893217
49. genetic variation of ENaC influences beta(2)-adrenergic receptor stimulated Na(+) clearance in the lungs. PMID: 21889619
50. large dietary sodium intervention study indicates that common variants of ENaC subunits A,B,G may contribute to the variation of BP response to dietary sodium intake PMID: 21562341

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HGNC: 10599

OMIM: 264350

KEGG: hsa:6337

STRING: 9606.ENSP00000353292

UniGene: Hs.591047