Property Summary

NCBI Gene PubMed Count 118
PubMed Score 46.73
PubTator Score 63.56

Knowledge Summary

Patent (2,046)

Expression

  Differential Expression (10)

Disease log2 FC p
cystic fibrosis -1.300 9.4e-05
esophageal adenocarcinoma -2.200 1.9e-02
osteosarcoma -1.397 4.6e-05
posterior fossa group A ependymoma 1.500 2.6e-05
non-small cell lung cancer -1.445 1.5e-10
interstitial cystitis -2.100 4.1e-05
lung adenocarcinoma -1.200 1.6e-07
lung carcinoma -1.700 4.5e-19
gastric carcinoma -1.900 2.9e-02
ulcerative colitis -2.000 4.8e-03

Protein-protein Interaction (11)

Gene RIF (82)

PMID Text
26638596 causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17].
25900089 Three nonsynonymous amino acid variants in SCNN1B in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was
25559464 The transcriptional expression of alpha, beta, and gamma subunits of ENaC was elevated in nasal polyp compared to nasal mucosa
25378078 analysis of a novel frameshift mutation in the betaENaC gene in an isolated case of Liddle syndrome
25231509 Suggest that SCNN1B gene has important roles in blood pressure regulation in the Han Chinese population.
25173196 These results do not suggest an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of Indo-Aryan ancestry.
24888492 significant association between the rs3743966 SNP in intron 12 of epithelial sodium channel beta-subunit and essential hypertension
24553299 Suggest that beta-ENaC mediates cytotrophoblast migration and increasing beta-ENaC expression by HO-1 induction enhances migration.
23977235 ENaCbeta but not ENaCalpha expression is significantly lower in severe preeclampsia compared with normal pregnancy.
23594824 WNK4 inhibits ENaC channel activity independently of Nedd4-2-mediated ENaC ubiquitination.
23218889 found a diminished expression of the three subunits of the ENaC in the membranes of preeclamptic placentas in comparison with the normal ones
23060445 analysis of eight extracellular domain residues in human beta- and gammaENaC that are required for regulation by acidic pH
22940131 these data suggests that miR-16 upregulates ENaC, a major sodium channel involved in resolution of pulmonary edema in acute lung injury.
22895453 The R563Q SCNN1beta variant is strongly associated with hypertension in urban areas in South Africa.
22809657 study reports an adolescent with Liddle syndrome caused by a novel missense mutation, P614L, in the PY motif of the ENaC beta subunit. This missense mutation was found in 6 members of the adolescent's family as well
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.
21956615 Family study of hypertension caused by Liddle syndrome revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene.
21700000 Breathing pattern is progressively altered in betaENaC-transgenic mice, likely reflecting airflow limitation due to airway mucus obstruction.
21654856 a SNP in SCNN1B was significantly associated with lower systolic and diastolic blood pressure in physically active Chinese.
21562341 variants of ENaC subunits A,B,G may contribute to the variation of BP response to dietary sodium intake
21525970 heterozygous C to T mutation at codon 617 in exon 13 of SCNN1B in the proband and in all of the members of the maternal lineage submitted to genetic analysis
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.
21107496 The R563Q mutation of beta-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20519934 SPLUNC1 potently reduced surface levels of the epithelial sodium channel (ENaC)in bronchial epithelial cells and Xenopus laevis oocytes.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20106988 HOCl and its reactive intermediates (such as organic chloramines) inhibit ENaC by affecting channel gating, which could be relieved by proteases cleavage
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19913121 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.
19520916 Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium.
19359370 Regulation of epithelial sodium channels by cGMP/PKGII.
19344079 A Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC.
19300301 ENaC plays an important role in fluid absorption in the human endolymphatic sac and its function may be altered during inflammatory conditions.
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
18665318 Alpha-, beta- and gamma-ENaC messenger RNAs are detected in amiloride-sensitive BeWo trophoblast cells.
18639284 SCNN1B is hypermethylated in renal cell carcinoma.
18507830 Several variants in ENaCbeta and gamma genes might be deleterious for ENaC function and lead to bronchiectasis.
18443236 Observational study of gene-disease association. (HuGE Navigator)
18398334 A novel point mutation in epithelial sodium channel beta subunit, causing a substitution of a leucine residue for the second proline residue of the conserved PY motif (PPP x Y) of the beta subunit was identified in the proband
18184758 We have shown a modest sized but highly significant effect of common genetic variation in the SCNN1B gene on plasma potassium
18184758 Observational study of gene-disease association. (HuGE Navigator)
18004211 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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
17586416 Observational study of gene-disease association. (HuGE Navigator)
17586416 We have identified a polymorphic GT short tandem repeat, which is present in the Chilean population. Biochemical analysis showed a possible linkage between this polymorphic region and low renin hypertension.
17560176 genetic variants in ENaCbeta (epithelial sodium channel beta) genes do not modulate disease severity in the majority of CF patients
17560176 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17510235 both mouse and human mammary cells express all ENaC subunits, and they are regulated by steroid hormones in a temporal and cell-specific manner both in culture and in vivo
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.
17241874 Concerted action of short chain fatty acids and corticosteroid hormones is required for induction of ENaC and maintenance of intestinal electrogenic sodium absorption
16943574 P616H mutation may be the underlying cause for the signs and symptoms of Liddle's syndrome.
16579800 Observational study of gene-disease association. (HuGE Navigator)
16463024 SCNN1B is a modulator in Cystic fibrosis.
16432044 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16432044 concluded that the T594M allele does not contribute significantly to blood pressure in blacks and does not predict a significantly superior response to amiloride therapy
16423824 the interactions of delta-ENaC with alpha beta gamma-human epithelial sodium channel subunits could account for heterogeneity of native epithelial channels
15661075 Observational study of gene-disease association. (HuGE Navigator)
15661075 Common variants of the ENaC beta subunit confer susceptibility to human essential hypertension.
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.
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.
15327619 Observational study of gene-disease association. (HuGE Navigator)
15198480 Observational study of gene-disease association. (HuGE Navigator)
15198480 The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes.
15188166 in ulcerative colitis, elevated proinflammatory cytokines selectively impair beta- and gamma-ENaC expression, which contributes to diarrhea by reducing colonic sodium absorption.
14553964 Observational study of gene-disease association. (HuGE Navigator)
14553964 No support for an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of African ancestry.
12714866 Observational study of gene-disease association. (HuGE Navigator)
12714866 R563Q, a new variant of the beta epithelial sodium channel, is associated with low-renin, low-aldosterone hypertension. Only a minority of individuals with the R563Q allelle fully express the Liddle's syndrome phenotype.
12473861 Frameshift mutation of beta subunit caused by single cytosine insertion at codon 595, introducing new stop codon at 605 and deleting last 34 amino acids from normally encoded protein.
12204893 homozygous mutation in the promoter region of betaENaC leads to pseudohypoaldosteronism type I, the first description of a mutation in the regulatory regions of an ENaC subunit leading to a clinical phenotype
12180079 Observational study of genotype prevalence. (HuGE Navigator)
12107247 Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel beta-subunit gene.
11934701 cloned and characterized the 5' end of the human beta-ENaC gene and identified alternate promoters that determine basal expression of separate transcripts
11863256 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11863256 Genotypes of the betaENaC gene have little influence on blood pressure level in the Japanese population.

AA Sequence

MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFAALVCWQWGIF      1 - 70
IRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELMEAVLERILAPELSHANATRNL     71 - 140
NFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTS    141 - 210
ATQALTEWYILQATNIFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMT    211 - 280
EKALPSANPGTEFGLKLILDIGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDK    281 - 350
LQRMGEPYSPCTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF    351 - 420
PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERDQSTNITLSRK    421 - 490
GIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEFGEIIIDFVWITIIKLVALAK    491 - 560
SLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPNTGPYPSEQALPIPGTPPPNYDSLRLQPLDV    561 - 630
IESDSEGDAI                                                                631 - 640
//

Text Mined References (125)

PMID Year Title
26772908 2016 Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
26638596 2015 Liddle's Syndrome: A Case Report.
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.
25378078 2015 A novel frameshift mutation of epithelial sodium channel ?-subunit leads to Liddle syndrome in an isolated case.
25231509 2015 Associations of epithelial sodium channel genes with blood pressure: the GenSalt study.
25173196 ?-T594M epithelial sodium channel gene polymorphism and essential hypertension in individuals of Indo-Aryan ancestry in Northern India.
24888492 2014 Association of epithelial sodium channel ?-subunit common polymorphism with essential hypertension families in a Chinese population.
24553299 2014 Heme oxygenase-1 promotes migration and ?-epithelial Na+ channel expression in cytotrophoblasts and ischemic placentas.
24124190 2013 Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures.
24043776 2013 Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways.
23977235 2013 Reduced expression of Enac in Placenta tissues of patients with severe preeclampsia is related to compromised trophoblastic cell migration and invasion during pregnancy.
23594824 2013 WNK4 inhibition of ENaC is independent of Nedd4-2-mediated ENaC ubiquitination.
23547933 2013 ENaC modulators and renal disease.
23218889 2013 Expression of the epithelial sodium channel sensitive to amiloride (ENaC) in normal and preeclamptic human placenta.
23060445 2012 Identification of extracellular domain residues required for epithelial Na+ channel activation by acidic pH.
22940131 2012 MicroRNA 16 modulates epithelial sodium channel in human alveolar epithelial cells.
22895453 2012 The association of the R563Q genotype of the ENaC with phenotypic variation in Southern Africa.
22809657 2013 A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel.
22493497 2012 Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).
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.
21956615 2012 Liddle syndrome in a Serbian family and literature review of underlying mutations.
21765395 2011 Nedd4-1 binds and ubiquitylates activated FGFR1 to control its endocytosis and function.
21700000 2011 Morphological analysis of the trachea and pattern of breathing in ?ENaC-Tg mice.
21654856 2011 Interactions of genetic variants with physical activity are associated with blood pressure in Chinese: the GenSalt study.
21562341 2011 Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.
21525970 2011 A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome.
21307123 2011 Second transmembrane domain modulates epithelial sodium channel gating in response to shear stress.
21107496 The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension.
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.
20519934 SPLUNC1 expression reduces surface levels of the epithelial sodium channel (ENaC) in Xenopus laevis oocytes.
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.
20237237 2010 COMMD1 downregulates the epithelial sodium channel through Nedd4-2.
20106988 2010 Inhibition of lung fluid clearance and epithelial Na+ channels by chlorine, hypochlorous acid, and chloramines.
20064610 2010 Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19763606 2010 Anionic phospholipids differentially regulate the epithelial sodium channel (ENaC) by interacting with alpha, beta, and gamma ENaC subunits.
19520916 2010 Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium.
19462466 2009 Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
19359370 2009 Regulation of epithelial sodium channels by cGMP/PKGII.
19344079 2009 A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome.
19300301 2009 Functional and molecular expression of epithelial sodium channels in cultured human endolymphatic sac epithelial cells.
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.
18665318 2008 Epithelial sodium channel in a human trophoblast cell line (BeWo).
18639284 2008 Identification of novel epigenetic markers for clear cell renal cell carcinoma.
18634878 2008 Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.
18507830 2008 Could a defective epithelial sodium channel lead to bronchiectasis.
18443236 2008 Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.
18398334 2008 Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.
18184758 2008 Plasma potassium level is associated with common genetic variation in the beta-subunit of the epithelial sodium channel.
18004211 2007 Genetic variants in the epithelial sodium channel associate with oedema in type 2 diabetic patients receiving the peroxisome proliferator-activated receptor gamma agonist farglitazar.
17766193 2008 Upregulated expression of ENaC in human CF nasal epithelium.
17586416 2007 A polymorphic GT short tandem repeat affecting beta-ENaC mRNA expression is associated with low renin essential hypertension.
17560176 2008 ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
17510235 2007 Steroid-mediated regulation of the epithelial sodium channel subunits in mammary 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.
17241874 2007 Butyrate induces intestinal sodium absorption via Sp3-mediated transcriptional up-regulation of epithelial sodium channels.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16943574 2006 Mutation analysis of SCNN1B in a family with Liddle's syndrome.
16579800 2006 Association of pre-eclampsia with the R563Q mutation of the beta-subunit of the epithelial sodium channel.
16463024 2006 The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
16432044 2006 Epithelial sodium channel allele T594M is not associated with blood pressure or blood pressure response to amiloride.
16423824 2006 Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction.
16207733 2005 Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
15853823 2005 Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
15661075 2005 Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
15596218 2004 Overexpression of epithelial sodium channels in epithelium of human urinary bladder with outlet obstruction.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15483078 2005 Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
15328345 2004 cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2.
15327619 2004 T594M mutation of the epithelial sodium channel beta-subunit gene in pre-eclampsia and eclampsia in Black South African women.
15326289 2004 Identification and proteomic profiling of exosomes in human urine.
15198480 2004 Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives.
15188166 2004 Cytokine-dependent transcriptional down-regulation of epithelial sodium channel in ulcerative colitis.
14761957 2004 Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin.
14645214 2004 Identification of Murr1 as a regulator of the human delta epithelial sodium channel.
14553964 2003 T594M variant of the epithelial sodium channel beta-subunit gene and hypertension in individuals of African ancestry in South Africa.
12714866 2003 A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.
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.
12473861 2002 A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome.
12204893 2002 Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit.
12180079 2002 T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension.
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.
11997395 2002 Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin.
11934701 2002 Genomic organization of the 5' end of human beta-ENaC and preliminary characterization of its promoter.
11906720 2002 Amiloride-sensitive epithelial sodium channel subunits are expressed in human and mussel immunocytes.
11845306 2001 Role of snare proteins in CFTR and ENaC trafficking.
11826291 2002 Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors.
11567041 2001 Contactin associates with Na+ channels and increases their functional expression.
11470829 2001 Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain.
11375929 2001 Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites.
11359767 2001 Multiple WW domains, but not the C2 domain, are required for inhibition of the epithelial Na+ channel by human Nedd4.
11244092 2001 The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel.
11181995 2001 The sequence of the human genome.
10845103 2000 Structure and regulation of amiloride-sensitive sodium channels.
10642508 2000 Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits.
10506918 1999 Sodium transport systems in human chondrocytes. II. Expression of ENaC, Na+/K+/2Cl- cotransporter and Na+/H+ exchangers in healthy and arthritic chondrocytes.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
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+.
9813171 1998 Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.
9794716 1998 Genetic analysis of the epithelial sodium channel in Liddle's syndrome.
9674649 1998 Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension.
9626162 1998 A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.
9169421 1997 Identification of novel human WW domain-containing proteins by cloning of ligand targets.
9118951 1997 A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.
8986818 1996 Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.
8601645 1996 Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.
8589714 1996 Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.
8524790 1995 A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
8521520 1995 Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.
7954808 1994 Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.
7762608 1995 Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel.
7550319 1995 Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.
7499195 1995 Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.
7490094 1995 Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.
1939532 1991 Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.