Property Summary

NCBI Gene PubMed Count 158
PubMed Score 47.29
PubTator Score 130.57

Knowledge Summary

Patent (3,641)

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Kidney disease 397 3.361 1.7

Expression

  Differential Expression (19)

Disease log2 FC p
nephrosclerosis -1.582 2.1e-02
osteosarcoma 1.172 4.6e-05
glioblastoma -1.300 1.1e-04
adrenocortical carcinoma -3.569 7.1e-16
pancreatic ductal adenocarcinoma liver m... 2.592 1.5e-02
intraductal papillary-mucinous adenoma (... 1.400 9.0e-04
intraductal papillary-mucinous carcinoma... 1.900 2.3e-03
intraductal papillary-mucinous neoplasm ... 2.000 1.9e-03
lung cancer -2.300 8.3e-05
pancreatic cancer 1.300 1.9e-03
interstitial cystitis -4.200 4.2e-05
adult high grade glioma -1.300 1.3e-03
non primary Sjogren syndrome sicca 1.200 1.7e-02
aldosterone-producing adenoma -1.518 4.3e-02
nasopharyngeal carcinoma -1.900 3.0e-04
Endometriosis -1.087 3.7e-02
spina bifida -2.164 3.9e-02
ovarian cancer 2.700 7.3e-04
pituitary cancer -3.800 9.5e-07

Protein-protein Interaction (11)

Gene RIF (128)

PMID Text
27045669 These results indicate that ENaC functions as a sensor for external Cd2+.
26611714 The rs4149570 and rs7956915 polymorphisms of SCNN1A might play important roles in the susceptibility to respiratory distress syndrome, particularly in term infants.
26032502 ASIC1A and ENaCalpha form functional heterotrimers acting as ion channels.
25900089 Four nonsynonymous amino acid variants in SCNN1A in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was identified.
25559464 The transcriptional expression of alpha, beta, and gamma subunits of ENaC was elevated in nasal polyp compared to nasal mucosa
25517724 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.
25371970 Skin hydration status regulates sodium homeostasis and inflammatory pathways through the epithelial sodium channel (ENaC).
25339316 Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
25242083 It essentially participates in regulatory systems of blood pressure and normal gas exchange.
25187622 ENaC regulates miR-101/miR-199a-3p during embryo implantation with the involvement of CREB phosphorylation.
25173609 In this study, authors found that miR-125b inhibits hepatitis B virus expression in vitro by regulating SCNN1A expression.
24914548 Increased CFTR expression and decreased ENaC-alpha expression in the decidua of early abortion may relate with failure of early pregnancy.
24735600 SCNN1A and SCNN1G SNPs may contribute to blood pressure changes over time in the Han Chinese population.
24114932 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
24043776 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.
23837941 Cystic fibrosis-like disease probably has an oligogenic origin, resulting from mutations in several genes, including CFTR, SERPINA1, and SCNN1 isoforms.
23762408 Two novel mutations in the SCNN1A gene causing pseudohypoaldosteronism type 1 have been identified in two unrelated Chinese infants.
23645669 Data indicate that Grp170 (Lhs1 ortholog) coprecipitate with alphaENaC.
23594824 WNK4 inhibits ENaC channel activity independently of Nedd4-2-mediated ENaC ubiquitination.
23523754 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.
23460285 ENaC in the vascular endothelium determines cellular mechanics and hence might participate in the control of vascular function.
23416952 The alpha subunit is essential for ENaC function and mutations truncating the pore-forming part of the protein leading to systemic pseudohypoaldosteronism type 1
23297398 Ubiquitin-specific peptidase 8 (USP8) regulates endosomal trafficking of the epithelial Na+ channel
23218889 found a diminished expression of the three subunits of the ENaC in the membranes of preeclamptic placentas in comparison with the normal ones
22987920 Data suggest that proteolytic activation of ENaC by plasmin may contribute to Na(+) retention and hypertension in preeclampsia.
22776878 enetic variation of SCNN1A differentially affects the diffusing capacity in patients with Cystic fibrosis.
22729284 These results indicate a previously undefined role of ENaC in regulating the PGE production and release required for embryo implantation.
22613977 findings suggest that a helical conformation in its carboxyterminal part is functionally important to mediate ENaC inhibition by the alpha-13-mer peptide
22573385 Multiple residues in the distal C terminus of the alpha-subunit have roles in modulating human epithelial sodium channel activity.
22406554 Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression.
22374202 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
22250980 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
22207244 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.
22127840 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.
21917531 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.
21893217 genetic variation of the alpha-subunit of ENaC at amino acid 663 influences lung diffusion at peak exercise in healthy humans
21889619 genetic variation of ENaC influences beta(2)-adrenergic receptor stimulated Na(+) clearance in the lungs.
21768316 Expression of alpha-ENaC <30 minutes postnatally correlated with cord plasma cortisol in infants delivered by elective cesarean delivery.
21667229 Data show that response to apical fluid volume expansion in H441 airway epithelial cells involves cleavage of gammaENaC, and changes in alpha- and gammaENaC protein abundance at the apical membrane.
21664233 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.
21653223 when the kidney is fully mature, the severity of the symptoms of Pseudohypoaldosteronism type 1 is related to the degree of the ENaC loss of function. study identifies a novel functional domain in the extracellular loop of ENaC.
21562341 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
21307123 Identify the specific domains of epithelial sodium channels that are responsible for the differences in the response to flow of alphabetagamma and deltabetagamma channels.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20709758 Results identify limiting proteolytic cleavage of ENaC as a mechanism by which CFTR down-regulates Na(+) absorption.
20663296 Insulin can up-regulate expression of the ENaC-alpha in A549 cells via PKC and SGK-1 pathways.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20577119 Observational study of gene-disease association. (HuGE Navigator)
20536507 Observational study of gene-disease association. (HuGE Navigator)
20519934 SPLUNC1 potently reduced surface levels of the epithelial sodium channel (ENaC)in bronchial epithelial cells and Xenopus laevis oocytes.
20484876 Meta-analysis of gene-disease association. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20194130 alpha W493R mutation promotes constitutive activation of ENaC and decreasing the pool of near-silent channels; might contribute to the pathophysiology of cystic fibrosis in patients carrying this mutation
20106988 HOCl and its reactive intermediates (such as organic chloramines) inhibit ENaC by affecting channel gating, which could be relieved by proteases cleavage
20098615 Observational study of gene-disease association. (HuGE Navigator)
20097829 These findings demonstrate that Na(+) absorption in the airway is acutely modulated by the coordinated trafficking of channels to the luminal surface and by the proteolytic activation of ENaC.
20079059 Expression of ENac was upregulated in nasal polyps.
20078945 G2139A, G3091A, T663A, and T3593C polymorphisms of alphaENaC gene may play an important role in the development of essential hypertension among Kazakhs in Xinjiang.
20078945 Observational study of gene-disease association. (HuGE Navigator)
20054153 findings show the alphaF61L mutation reduced the ENaC mediated whole-cell currents by approximately 90%; conclude that the alphaF61L mutation may contribute to respiratory symptoms in atypical cystic fibrosis patients
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19925887 This study provides that the human lung-derived ENaC is a mechanosensitive ion channel.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19864429 AF17 competes with AF9 to bind Dot1a, decreases Dot1a nuclear expression by possibly facilitating its nuclear export, and relieves Dot1a.AF9-mediated repression of alpha-ENaC and other target genes.
19858199 Alternative mechanism of activation of the epithelial na+ channel by cleavage.
19773279 Observational study of gene-disease association. (HuGE Navigator)
19763606 These data together suggest that anionic phospholipids differentially regulate epithelial sodium channels (ENaCs) by physically interacting with alpha-, beta-, and gamma-ENaC subunits.
19720813 18% of cohort carried at least one missense mutation in ENaCalpha and 3 were transheterozygotes for CFTR/ENaCalpha
19619703 One or more copies of the variant C allele of SCNN1A rs5742912 was associated with an increased metabolic syndrome risk among female users of hormone replacement therapy.
19619128 Glucocorticoids can activate the alpha-ENaC gene promoter independently of SGK1.
19617352 the SGK1/Nedd4-2 signaling pathway regulates both CFTR and ENaC trafficking in CF epithelial cells
19561078 a significant inhibition of D54-MG cell migration after ASIC1, alphaENaC, or gammaENaC knockdown, consistent with the hypothesis that ENaC/Degenerin subunits play an important role in glioma cell biology.
19559392 Observational study of gene-disease association. (HuGE Navigator)
19541605 SPLUNC1 is secreted onto mucosal surfaces as a soluble volume sensor whose concentration and dilution can regulate ENaC activity and mucosal volumes, including that of airway surface liquid.
19527514 Observational study of gene-disease association. (HuGE Navigator)
19479237 Observational study of gene-disease association. (HuGE Navigator)
19462466 a more than three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patient group (30% vs. 9% in controls), indicating an involvement of ENaC in some patients by a polygenetic mechanism.
19423540 Observational study of gene-disease association. (HuGE Navigator)
19359370 Regulation of epithelial sodium channels by cGMP/PKGII.
19300301 ENaC plays an important role in fluid absorption in the human endolymphatic sac and its function may be altered during inflammatory conditions.
19263529 Observational study of gene-disease association. (HuGE Navigator)
19238444 HuGE review of gene-disease association and gene-environment interaction. (HuGE Navigator)
19131662 Meta-analysis of gene-disease association. (HuGE Navigator)
19019335 Observational study of gene-disease association. (HuGE Navigator)
19017867 CF-like syndrome in Africa could be associated with ENaC mutations in Rwandan patients.
19017867 Observational study of gene-disease association. (HuGE Navigator)
18990692 support a model in which protons modulate ENaC gating by relieving Na(+) self-inhibition
18818748 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18801933 HEXIM1 may participate in tissue-selective determination of glucocorticoid sensitivity via direct interaction with GR at least in certain gene sets including atp1a1 and scnn1a.
18703878 The distribution of genotype and allele frequencies of G2139A, A334T and A663T did not differ significantly between hypertensive subjects and control subjects in both Kazak and Uyghur populations
18703878 Observational study of gene-disease association. (HuGE Navigator)
18665318 Human trophoblast BeWo cells express ENaC alpha subunit; aldosterone modulates a selective response by generating amiloride-sensitive sodium currents similar to those observed in other human tissues.
18660489 Observational study of gene-disease association. (HuGE Navigator)
18634878 Results demonstrate genotype-phenotype relationships in pseudohypoaldosteronism, where ENaC function is correlated with the renin-aldosterone system and urinary Na/K ratios.
18547339 The novel mutation S562P is causing systemic pseudohypoaldosteronism type I in the homozygous state. Heterozygote SCNN1A mutation carriers revealed increased sweat sodium and chloride levels consistent with a dominant effect of the mutant S562P allele.
18513389 Observational study of gene-disease association. (HuGE Navigator)
18355814 In CD, macroscopically noninflamed colon contributes to diarrhea via impaired ENaC-mediated sodium absorption. Inhibition of extracellular signal-regulated kinase might serve as a potential therapeutic strategy for CD diarrhea.
18298571 EIPA [5-(N-ethyl-N-isopropyl)-amiloride hydrochloride] inhibition of ENaCs, possibly ENaC-alpha and ENaC-delta, significantly improved the sperm motility in healthy donors and in asthenospermia patients.
17905853 Relative expression levels of alpha-subunit variants in four human lung epithelial cell lines, is examined.
17766193 alpha- & beta-hnENaC protein was increased in cystic fibrosis tissue; gamma-hnENaC was decreased; Na+ hyperabsorption not caused by hnENaC mutations, but by an increase in transcription of hnENaC subunits
17596527 data suggest casein kinase 1(CK1), & perhaps specifically CK1delta, regulates intracellular trafficking of alpha-A663T functional polymorphism of hENaC indirectly by altering rate of alpha-T663-hENaC biosynthesis and/or delivery to the plasma membrane
17537777 ENaC alpha-subunit expression is inhibited by ENaC alpha-subunit in lung epithelial cells
17460608 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17434346 This study found that co-expressed cystic fibrosis transmembrane conductance regulator (CFTR) stabilizes epithelial sodium channel(ENaC) at the plasma membrane, suggesting that CFTR regulates ENaC stability, not just opening.
17381423 Results support a model whereby ubiquitin and clathrin adaptor binding sites act in concert to remove ENaC from the cell surface.
17170520 Incubation with glucose, the Ca2+-ionophore ionomycin and the cytokine TGF-beta1 were all found to evoke significant and time-dependent increases in both SGK1 and alphaENaC protein expression.
17020471 Observational study of gene-disease association. (HuGE Navigator)
16912051 analysis of the first membrane-spanning segment of the epithelial sodium channel
16463024 Observational study of gene-disease association. (HuGE Navigator)
16423824 the interactions of delta-ENaC with alpha beta gamma-human epithelial sodium channel subunits could account for heterogeneity of native epithelial channels
16373340 forskolin induces human alphaENaC translocation in H441 lung epithelial cell monolayers
16172422 These data show that alphaENaC expression is directly regulated by androgens in vitro and in vivo and highlight a potential mechanism explaining the reported gender differences in blood pressure.
15755725 IL-1b decreases expression of the ENaC alpha-subunit in alveolar epithelial cells via a p38 MAPK-dependent signaling pathway
15746174 We determined that an apparent CFTR-dependent ENaC inhibition could be observed when resistance in series with the oocyte membrane was not low enough or the feedback voltage gain was not high enough.
15596218 The ENaC expressed in the bladder epithelium might be implicated in the mechanosensory transduction in the bladder afferent pathways, thereby inducing detrusor instability by outlet obstruction.
15498559 dexamethasone caused concentration-dependent activation of the human alpha-ENaC promoter
15328345 cAMP regulates ENaC in part by phosphorylation and inhibition of Nedd4-2. Moreover, Nedd4-2 is a central convergence point for kinase regulation of Na(+) transport.
15308680 Alpha ENaC-deficient transgenic mice represent the first model of constitutively impaired respiratory transepithelial sodium transport and provide direct evidence that this impairment facilitates pulmonary edema in conscious freely moving animals.
15169674 In the mature prenatal lung, subsets of alveolar type II (ATII) cells expressed one or both of the alpha-ENaC transcripts
15069064 halphaT663A is a functional polymorphism that affects human ENaC surface expression
12923071 PPARgamma activation enhances cell surface ENaCalpha via up-regulation of SGK1 in collecting duct cells.
12107247 Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-subunit gene.
12082592 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
11756432 protease-mediated regulation of sodium absorption is a function of human airway epithelia, and prostasin is a likely candidate for this activity.
11752024 Observational study of gene-disease association. (HuGE Navigator)
11675945 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFEFFCNNTTIHG      1 - 70
AIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINLNSDKLVFPAVTICTLNPYRY     71 - 140
PEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDLRGTLPHPLQRLRVPPPPHGARRARSVASSL    141 - 210
RDNNPQVDWKDWKIGFQLCNQNKSDCFYQTYSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIF    211 - 280
ACRFNQVSCNQANYSHFHHPMYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGAR    281 - 350
VMVHGQDEPAFMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC    351 - 420
FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCSVTSYQLSAGY    421 - 490
SRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESPSVTMVTLLSNLGSQWSLWFG    491 - 560
SSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGRGAQEVASTLASSPPSHFCPHPMSLSLSQPG    561 - 630
PAPSPALTAPPPAYATLGPRPSPGGSAGASSSTCPLGGP                                   631 - 669
//

Text Mined References (167)

PMID Year Title
27045669 2016 Effects of Cd2+ on the epithelial Na+ channel (ENaC) investigated by experimental and modeling studies.
26772908 2016 Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
26611714 2015 Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome.
26032502 2015 Atomic force microscopy imaging reveals the formation of ASIC/ENaC cross-clade ion channels.
25900089 2016 Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
25559464 2015 Expression and distribution of epithelial sodium channel in nasal polyp and nasal mucosa.
25517724 2015 A long isoform of the epithelial sodium channel alpha subunit forms a highly active channel.
25371970 2015 Hydration status regulates sodium flux and inflammatory pathways through epithelial sodium channel (ENaC) in the skin.
25339316 2014 Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
25242083 2014 Characteristics and pharmacological regulation of epithelial Na+ channel (ENaC) and epithelial Na+ transport.
25187622 2014 Regulation of miR-101/miR-199a-3p by the epithelial sodium channel during embryo implantation: involvement of CREB phosphorylation.
25173609 2014 miR-125b inhibits hepatitis B virus expression in vitro through targeting of the SCNN1A gene.
24914548 2014 Increased cystic fibrosis transmembrane conductance regulators expression and decreased epithelial sodium channel alpha subunits expression in early abortion: findings from a mouse model and clinical cases of abortion.
24735600 2014 Associations of epithelial sodium channel genes with blood pressure changes and hypertension incidence: the GenSalt study.
24124190 2013 Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures.
24114932 2014 Gene regulation by glucocorticoid in ENaC-mediated Na? transport by middle ear epithelial cells.
24043776 2013 Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways.
23837941 2014 Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
23762408 2013 Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.
23665454 2013 Structure and dynamics of human Nedd4-1 WW3 in complex with the ?ENaC PY motif.
23645669 2013 The Lhs1/GRP170 chaperones facilitate the endoplasmic reticulum-associated degradation of the epithelial sodium channel.
23594824 2013 WNK4 inhibition of ENaC is independent of Nedd4-2-mediated ENaC ubiquitination.
23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
23547933 2013 ENaC modulators and renal disease.
23523754 2013 The effect of NO-donors on chloride efflux, intracellular Ca(2+) concentration and mRNA expression of CFTR and ENaC in cystic fibrosis airway epithelial cells.
23460285 2013 Epithelial sodium channel stiffens the vascular endothelium in vitro and in Liddle mice.
23416952 2013 Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
23297398 2013 Ubiquitin-specific peptidase 8 (USP8) regulates endosomal trafficking of the epithelial Na+ channel.
23218889 2013 Expression of the epithelial sodium channel sensitive to amiloride (ENaC) in normal and preeclamptic human placenta.
22987920 2012 Urinary plasmin activates collecting duct ENaC current in preeclampsia.
22776878 2012 Genetic variation of SCNN1A influences lung diffusing capacity in cystic fibrosis.
22729284 2012 Activation of the epithelial Na+ channel triggers prostaglandin E? release and production required for embryo implantation.
22613977 2012 An inhibitory peptide derived from the ?-subunit of the epithelial sodium channel (ENaC) shows a helical conformation.
22573385 2012 Multiple residues in the distal C terminus of the ?-subunit have roles in modulating human epithelial sodium channel activity.
22493497 2012 Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).
22406554 2012 K+ channels regulate ENaC expression via changes in promoter activity and control fluid clearance in alveolar epithelial cells.
22374202 2012 Effects of rhinovirus infection on the expression and function of cystic fibrosis transmembrane conductance regulator and epithelial sodium channel in human nasal mucosa.
22250980 2012 Epithelial Na? channel activity in human airway epithelial cells: the role of serum and glucocorticoid-inducible kinase 1.
22207244 2012 Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.
22127840 2012 Overexpression of the VSSC-associated CAM, ?-2, enhances LNCaP cell metastasis associated behavior.
21917531 2012 Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.
21893217 2011 Genetic variation of ?ENaC influences lung diffusion during exercise in humans.
21889619 2011 Genetic variation of the alpha subunit of the epithelial Na+ channel influences exhaled Na+ in healthy humans.
21775436 2011 Atomic force microscopy reveals the architecture of the epithelial sodium channel (ENaC).
21768316 2011 Airway expression of the epithelial sodium channel ?-subunit correlates with cortisol in term newborns.
21667229 2011 Cleavage of endogenous ?ENaC and elevated abundance of ?ENaC are associated with increased Na? transport in response to apical fluid volume expansion in human H441 airway epithelial cells.
21664233 2012 Aldosterone resistance: structural and functional considerations and new perspectives.
21653223 2011 A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
21562341 2011 Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.
21307123 2011 Second transmembrane domain modulates epithelial sodium channel gating in response to shear stress.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20709758 2010 The cystic fibrosis transmembrane conductance regulator impedes proteolytic stimulation of the epithelial Na+ channel.
20663296 2010 [Study of regulatory effect of insulin on expression of epithelial sodium channel alpha subunit in A549 cells].
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20577119 2010 Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study.
20536507 2010 Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic receptor Trp64Arg polymorphisms on cardiac disease in Type 2 Diabetes--an 8-year prospective cohort analysis of 1297 patients.
20519934 SPLUNC1 expression reduces surface levels of the epithelial sodium channel (ENaC) in Xenopus laevis oocytes.
20484876 2010 Synopsis of preterm birth genetic association studies: the preterm birth genetics knowledge base (PTBGene).
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20194130 2010 A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.
20106988 2010 Inhibition of lung fluid clearance and epithelial Na+ channels by chlorine, hypochlorous acid, and chloramines.
20098615 2010 Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
20097829 2010 Acute regulation of the epithelial sodium channel in airway epithelia by proteases and trafficking.
20079059 2009 [Expression of epithelial Na+ channel in human nasal polyp].
20078945 2009 [Relationship between four single nucleotide polymorphisms of epithelial sodium channel alpha subunit gene and essential hypertension of Kazakhs in Xinjiang].
20054153 2010 Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19925887 2010 Epithelial Na+ channels derived from human lung are activated by shear force.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19864429 2009 AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha.
19858199 2009 Alternative mechanism of activation of the epithelial na+ channel by cleavage.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19763606 2010 Anionic phospholipids differentially regulate the epithelial sodium channel (ENaC) by interacting with alpha, beta, and gamma ENaC subunits.
19720813 2009 Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease.
19619703 2009 Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.
19619128 2009 Glucocorticoids can activate the alpha-ENaC gene promoter independently of SGK1.
19617352 2009 Rescue of DeltaF508-CFTR by the SGK1/Nedd4-2 signaling pathway.
19561078 2009 Knockdown of ASIC1 and epithelial sodium channel subunits inhibits glioblastoma whole cell current and cell migration.
19559392 2009 A candidate gene association study of 77 polymorphisms in migraine.
19541605 2009 SPLUNC1 regulates airway surface liquid volume by protecting ENaC from proteolytic cleavage.
19527514 2009 Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.
19479237 2009 Phenotype-genotype interactions on renal function in type 2 diabetes: an analysis using structural equation modelling.
19462466 2009 Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19359370 2009 Regulation of epithelial sodium channels by cGMP/PKGII.
19300301 2009 Functional and molecular expression of epithelial sodium channels in cultured human endolymphatic sac epithelial cells.
19263529 2009 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
19238444 2009 The genomic basis of cerebral palsy: a HuGE systematic literature review.
19131662 2009 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
19019335 2009 Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.
19017867 2009 Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
18990692 2009 Extracellular protons regulate human ENaC by modulating Na+ self-inhibition.
18818748 2008 Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.
18801933 2008 Tissue- and context-dependent modulation of hormonal sensitivity of glucocorticoid-responsive genes by hexamethylene bisacetamide-inducible protein 1.
18703878 2008 Lack of association of functional variants in alpha-ENaC gene and essential hypertension in two ethnic groups in China.
18665318 2008 Epithelial sodium channel in a human trophoblast cell line (BeWo).
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18650438 2008 Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation.
18634878 2008 Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.
18547339 2009 Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
18513389 2008 New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
18355814 2008 Altered ENaC expression leads to impaired sodium absorption in the noninflamed intestine in Crohn's disease.
18298571 2009 Blockade of epithelial sodium channels improves sperm motility in asthenospermia patients.
17905853 2007 ENaC alpha-subunit variants are expressed in lung epithelial cells and are suppressed by oxidative stress.
17766193 2008 Upregulated expression of ENaC in human CF nasal epithelium.
17596527 2007 Intracellular trafficking of a polymorphism in the COOH terminus of the alpha-subunit of the human epithelial sodium channel is modulated by casein kinase 1.
17537777 2007 Cigarette smoke condensate inhibits ENaC alpha-subunit expression in lung epithelial cells.
17460608 2007 Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs.
17434346 2007 CFTR stabilizes ENaC at the plasma membrane.
17381423 2007 Epithelial sodium channel (ENaC) is multi-ubiquitinated at the cell surface.
17170520 2006 High glucose up-regulates ENaC and SGK1 expression in HCD-cells.
17020471 2006 Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in Greek familial hypercholesterolemia patients.
16912051 2006 Distinct structural elements in the first membrane-spanning segment of the epithelial sodium channel.
16541075 2006 The finished DNA sequence of human chromosome 12.
16463024 2006 The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
16423824 2006 Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction.
16373340 2006 Forskolin-induced cell shrinkage and apical translocation of functional enhanced green fluorescent protein-human alphaENaC in H441 lung epithelial cell monolayers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16207733 2005 Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
16172422 2005 Androgen receptor-mediated regulation of the alpha-subunit of the epithelial sodium channel in human kidney.
15853823 2005 Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
15755725 2005 Interleukin-1beta decreases expression of the epithelial sodium channel alpha-subunit in alveolar epithelial cells via a p38 MAPK-dependent signaling pathway.
15746174 2005 CFTR fails to inhibit the epithelial sodium channel ENaC expressed in Xenopus laevis oocytes.
15734793 2005 Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study.
15596218 2004 Overexpression of epithelial sodium channels in epithelium of human urinary bladder with outlet obstruction.
15498559 2004 Thyroid hormone potentiates glucocorticoid-evoked airway Na+ transport without affecting alpha-ENaC transcription.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15328345 2004 cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2.
15326289 2004 Identification and proteomic profiling of exosomes in human urine.
15308680 2004 Defective respiratory amiloride-sensitive sodium transport predisposes to pulmonary oedema and delays its resolution in mice.
15169674 2004 Expression of epithelial sodium channel alpha-subunit mRNAs with alternative 5'-untranslated regions in the developing human lung.
15069064 2004 Functional polymorphism in the carboxyl terminus of the alpha-subunit of the human epithelial sodium channel.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14556380 2003 Identification of new partners of the epithelial sodium channel alpha subunit.
12923071 2003 PPARgamma activation enhances cell surface ENaCalpha via up-regulation of SGK1 in human collecting duct cells.
12562778 2003 Syntaxin 1A regulates ENaC via domain-specific interactions.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12167593 2002 Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel.
12107247 2002 Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.
12082592 2002 Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease.
11756432 2002 Regulation of the epithelial sodium channel by serine proteases in human airways.
11752024 2002 Association of a sodium channel alpha subunit promoter variant with blood pressure.
11696533 2002 Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel.
11675945 2001 Evaluation of selected polymorphisms of the Mendelian hypertensive disease genes in the Japanese population.
11359767 2001 Multiple WW domains, but not the C2 domain, are required for inhibition of the epithelial Na+ channel by human Nedd4.
11266509 2001 The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene.
11244092 2001 The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel.
10642508 2000 Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits.
10586178 1999 Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.
10523338 1999 Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension.
10447117 1999 Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene.
10409621 1999 Interaction of syntaxins with the amiloride-sensitive epithelial sodium channel.
10404817 1999 Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?
10212229 1999 All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+.
9654208 1998 Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel.
9612219 1998 5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins.
9575806 1998 Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel.
9169421 1997 Identification of novel human WW domain-containing proteins by cloning of ligand targets.
8986818 1996 Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8589714 1996 Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.
8278374 1994 The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning.
8023962 1994 Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel.
7896277 1994 SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12.
1939532 1991 Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.