Published in Nat Genet on March 01, 1996
Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest (2002) 5.94
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev (2010) 4.95
Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination. EMBO J (1997) 4.01
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci U S A (1996) 3.37
Dot1a-AF9 complex mediates histone H3 Lys-79 hypermethylation and repression of ENaCalpha in an aldosterone-sensitive manner. J Biol Chem (2006) 2.59
Impaired renal Na(+) retention in the sgk1-knockout mouse. J Clin Invest (2002) 2.47
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A (2009) 2.41
The heterotetrameric architecture of the epithelial sodium channel (ENaC). EMBO J (1998) 2.34
The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice. J Clin Invest (2010) 2.28
Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. J Clin Invest (1999) 2.15
Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Proc Natl Acad Sci U S A (1998) 1.90
Genetics of human cardiovascular disease. Cell (2012) 1.90
Structural plasticity and dynamic selectivity of acid-sensing ion channel-spider toxin complexes. Nature (2012) 1.84
Collecting duct-specific gene inactivation of alphaENaC in the mouse kidney does not impair sodium and potassium balance. J Clin Invest (2003) 1.64
Metabolic acidosis: pathophysiology, diagnosis and management. Nat Rev Nephrol (2010) 1.59
Massive losses of taste receptor genes in toothed and baleen whales. Genome Biol Evol (2014) 1.58
Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism. J Clin Invest (1998) 1.55
Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. Proc Natl Acad Sci U S A (1999) 1.53
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol (2010) 1.51
A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. EMBO J (1997) 1.46
Functional domains within the degenerin/epithelial sodium channel (Deg/ENaC) superfamily of ion channels. J Physiol (1999) 1.45
Regulation of the epithelial sodium channel by membrane trafficking. Am J Physiol Renal Physiol (2008) 1.41
Salt handling and hypertension. J Clin Invest (2004) 1.38
Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts. Elife (2017) 1.38
A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism. Proc Natl Acad Sci U S A (1997) 1.37
Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Proc Natl Acad Sci U S A (1999) 1.33
Pendrin modulates ENaC function by changing luminal HCO3-. J Am Soc Nephrol (2010) 1.29
Electrophysiological characterization of the rat epithelial Na+ channel (rENaC) expressed in MDCK cells. Effects of Na+ and Ca2+. J Gen Physiol (1998) 1.23
AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha. J Biol Chem (2009) 1.22
Endothelin-1 inhibits the epithelial Na+ channel through betaPix/14-3-3/Nedd4-2. J Am Soc Nephrol (2010) 1.22
Sodium and potassium balance depends on αENaC expression in connecting tubule. J Am Soc Nephrol (2010) 1.21
Feedback inhibition of rat amiloride-sensitive epithelial sodium channels expressed in Xenopus laevis oocytes. J Physiol (1999) 1.20
Regulation of the epithelial Na+ channel by peptidases. Curr Top Dev Biol (2007) 1.17
Regulation of transport in the connecting tubule and cortical collecting duct. Compr Physiol (2012) 1.16
A novel locus for adolescent idiopathic scoliosis on chromosome 12p. J Orthop Res (2009) 1.13
A new look at electrolyte transport in the distal tubule. Annu Rev Physiol (2011) 1.13
Role of the ubiquitin system in regulating ion transport. Pflugers Arch (2010) 1.12
Epithelial Na(+) channel regulation by cytoplasmic and extracellular factors. Exp Cell Res (2012) 1.08
Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study. Circ Cardiovasc Genet (2011) 1.06
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet (2006) 1.05
Extracellular Na+ removal attenuates rundown of the epithelial Na+-channel (ENaC) by reducing the rate of channel retrieval. Pflugers Arch (2003) 1.03
Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metab Case Rep (2013) 1.02
Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits. Biochem J (2000) 1.01
The epithelial sodium channel mediates the directionality of galvanotaxis in human keratinocytes. J Cell Sci (2013) 1.01
Genetics of hypertension: from experimental animals to humans. Biochim Biophys Acta (2009) 1.00
PPARgamma agonists do not directly enhance basal or insulin-stimulated Na(+) transport via the epithelial Na(+) channel. Pflugers Arch (2005) 1.00
Af17 deficiency increases sodium excretion and decreases blood pressure. J Am Soc Nephrol (2011) 1.00
GPR48 increases mineralocorticoid receptor gene expression. J Am Soc Nephrol (2011) 0.99
Regulation of the epithelial sodium channel (ENaC) by membrane trafficking. Biochim Biophys Acta (2010) 0.99
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet (2004) 0.98
Genetics of arterial hypertension and hypotension. Naunyn Schmiedebergs Arch Pharmacol (2007) 0.97
A single WW domain is the predominant mediator of the interaction between the human ubiquitin-protein ligase Nedd4 and the human epithelial sodium channel. Biochem J (2002) 0.97
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet (2000) 0.97
Hormonal regulation of the epithelial sodium channel ENaC: N or P(o)? J Gen Physiol (2002) 0.95
Blood pressure and amiloride-sensitive sodium channels in vascular and renal cells. Nat Rev Nephrol (2014) 0.94
Pulmonary oedema fluid induces non-alpha-ENaC-dependent Na(+) transport and fluid absorption in the distal lung. J Physiol (2002) 0.93
ENaC activity is increased in isolated, split-open cortical collecting ducts from protein kinase Cα knockout mice. Am J Physiol Renal Physiol (2013) 0.92
Cell surface expression and biosynthesis of epithelial Na+ channels. Biochem J (1998) 0.92
ENaCs and ASICs as therapeutic targets. Am J Physiol Cell Physiol (2012) 0.91
Dietary potassium and the renal control of salt balance and blood pressure. Pflugers Arch (2015) 0.91
Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. Case Rep Endocrinol (2013) 0.90
The Cyp2c44 epoxygenase regulates epithelial sodium channel activity and the blood pressure responses to increased dietary salt. J Biol Chem (2013) 0.90
Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways. Histochem Cell Biol (2011) 0.90
Insight into DEG/ENaC channel gating from genetics and structure. Physiology (Bethesda) (2012) 0.89
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene (2016) 0.89
Point mutations in alpha bENaC regulate channel gating, ion selectivity, and sensitivity to amiloride. Biophys J (1997) 0.88
Role of the UPS in Liddle syndrome. BMC Biochem (2008) 0.88
Sequence analysis of coding and 3' and 5' flanking regions of the epithelial sodium channel alpha, beta, and gamma genes in Dahl S versus R rats. BMC Genet (2007) 0.88
Exploration of the pore structure of a peptide-gated Na+ channel. EMBO J (2001) 0.88
Mice heterozygous for beta-ENaC deletion have defective potassium excretion. Am J Physiol Renal Physiol (2006) 0.86
Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9). J Biol Chem (2012) 0.86
Blood pressure and human genetic variation in the general population. Curr Opin Cardiol (2010) 0.85
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1. J Am Soc Nephrol (2011) 0.85
Cytochalasin E alters the cytoskeleton and decreases ENaC activity in Xenopus 2F3 cells. Am J Physiol Renal Physiol (2014) 0.83
Gating of amiloride-sensitive Na(+) channels: subunit-subunit interactions and inhibition by the cystic fibrosis transmembrane conductance regulator. Biophys J (2000) 0.83
Could a defective epithelial sodium channel lead to bronchiectasis. Respir Res (2008) 0.83
Multiple residues in the distal C terminus of the α-subunit have roles in modulating human epithelial sodium channel activity. Am J Physiol Renal Physiol (2012) 0.83
Resveratrol inhibits the epithelial sodium channel via phopshoinositides and AMP-activated protein kinase in kidney collecting duct cells. PLoS One (2013) 0.82
Aldosterone regulates microRNAs in the cortical collecting duct to alter sodium transport. J Am Soc Nephrol (2014) 0.82
Ion channels in health and disease. 83rd Boehringer Ingelheim Fonds International Titisee Conference. EMBO Rep (2001) 0.82
A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene. Korean J Pediatr (2011) 0.82
Amiloride-sensitive sodium channels contribute to the woes of the flu. Proc Natl Acad Sci U S A (2000) 0.82
Pulmonary epithelial barrier function: some new players and mechanisms. Am J Physiol Lung Cell Mol Physiol (2015) 0.82
Bile acids increase the activity of the epithelial Na+ channel. Pflugers Arch (2013) 0.81
Gasotransmitters: novel regulators of epithelial na(+) transport? Front Physiol (2012) 0.81
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. Hum Genet (2010) 0.81
PPARgamma Agonists: Blood Pressure and Edema. PPAR Res (2009) 0.80
Voltage-dependent gating underlies loss of ENaC function in Pseudohypoaldosteronism type 1. Biophys J (2011) 0.80
A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain. BMC Cell Biol (2009) 0.80
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q. Am J Hum Genet (1998) 0.80
Molecular and pathophysiologic mechanisms of hyperkalemic metabolic acidosis. Trans Am Clin Climatol Assoc (2000) 0.80
Ion channels and the control of blood pressure. Br J Clin Pharmacol (2000) 0.80
Renal mineralocorticoid receptor and electrolyte homeostasis. Am J Physiol Regul Integr Comp Physiol (2015) 0.80
Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. J Membr Biol (2005) 0.79
Molecular developments in renal tubulopathies. Arch Dis Child (2000) 0.79
Hsc70 negatively regulates epithelial sodium channel trafficking at multiple sites in epithelial cells. Am J Physiol Cell Physiol (2013) 0.79
Solute transport and oxygen consumption along the nephrons: effects of Na+ transport inhibitors. Am J Physiol Renal Physiol (2016) 0.79
The loss of taste genes in cetaceans. BMC Evol Biol (2014) 0.79
Inhibition of ENaC by endothelin-1. Vitam Horm (2015) 0.78
Severe Salt-Losing Syndrome and Hyperkalemia Induced by Adult Nephron-Specific Knockout of the Epithelial Sodium Channel α-Subunit. J Am Soc Nephrol (2015) 0.78
A protein interaction map of Drosophila melanogaster. Science (2003) 20.06
Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature (1994) 9.76
Protection of Macaques against pathogenic simian/human immunodeficiency virus 89.6PD by passive transfer of neutralizing antibodies. J Virol (1999) 9.11
Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study. Hypertension (2000) 8.84
Human hypertension caused by mutations in WNK kinases. Science (2001) 8.71
RAGE mediates a novel proinflammatory axis: a central cell surface receptor for S100/calgranulin polypeptides. Cell (1999) 8.55
Whole-Organ Magnetic Resonance Imaging Score (WORMS) of the knee in osteoarthritis. Osteoarthritis Cartilage (2004) 8.50
The vasorelaxant effect of H(2)S as a novel endogenous gaseous K(ATP) channel opener. EMBO J (2001) 7.97
Human neutralizing monoclonal antibodies of the IgG1 subtype protect against mucosal simian-human immunodeficiency virus infection. Nat Med (2000) 7.48
Blockade of RAGE-amphoterin signalling suppresses tumour growth and metastases. Nature (2000) 6.70
CFTR as a cAMP-dependent regulator of sodium channels. Science (1995) 6.50
PIK3CA is implicated as an oncogene in ovarian cancer. Nat Genet (1999) 6.18
Molecular basis of human hypertension: role of angiotensinogen. Cell (1992) 6.07
Epithelial sodium channel related to proteins involved in neurodegeneration. Nature (1993) 6.04
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science (1999) 6.04
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet (1996) 5.95
The organization of the histone genes in Drosophila melanogaster: functional and evolutionary implications. Cold Spring Harb Symp Quant Biol (1978) 5.60
Suppression of accelerated diabetic atherosclerosis by the soluble receptor for advanced glycation endproducts. Nat Med (1998) 5.54
Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell (1994) 5.29
Accurate assessment of precision errors: how to measure the reproducibility of bone densitometry techniques. Osteoporos Int (1995) 5.22
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet (1995) 4.45
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science (1995) 4.25
Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat Genet (1996) 4.15
Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination. EMBO J (1997) 4.01
Pharmacological profile of the alpha4beta2 nicotinic acetylcholine receptor partial agonist varenicline, an effective smoking cessation aid. Neuropharmacology (2006) 3.93
Integrating primary medical care with addiction treatment: a randomized controlled trial. JAMA (2001) 3.91
An epithelial serine protease activates the amiloride-sensitive sodium channel. Nature (1997) 3.87
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet (1996) 3.84
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet (1999) 3.73
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet (1996) 3.71
Phosphorylation and inactivation of glycogen synthase kinase 3 by protein kinase A. Proc Natl Acad Sci U S A (2000) 3.61
Loss of heterozygosity in normal tissue adjacent to breast carcinomas. Science (1996) 3.54
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet (1997) 3.51
Latent and active p53 are identical in conformation. Nat Struct Biol (2001) 3.47
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci U S A (1996) 3.37
Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin. Neuron (2001) 3.20
Ethnic differences in the distribution of congenital malformations. Postgrad Med J (1983) 3.17
The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell (1982) 3.08
Isolation of specific RNA's using DNA covalently linked to diazobenzyloxymethyl cellulose or paper. Methods Enzymol (1979) 3.04
Hypocholesterolemia is associated with immune dysfunction in early human immunodeficiency virus-1 infection. Am J Med (1993) 2.96
The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell (1983) 2.92
Assessment of rheumatoid arthritis using a modified scoring method on digitized and original radiographs. Arthritis Rheum (1998) 2.91
RAGE and arthritis: the G82S polymorphism amplifies the inflammatory response. Genes Immun (2002) 2.88
Corticosteroid-dependent sodium transport in a novel immortalized mouse collecting duct principal cell line. J Am Soc Nephrol (1999) 2.88
Sextant localization of prostate cancer: comparison of sextant biopsy, magnetic resonance imaging and magnetic resonance spectroscopic imaging with step section histology. J Urol (2000) 2.73
A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc Natl Acad Sci U S A (1995) 2.69
Contrast extravasation on CT predicts mortality in primary intracerebral hemorrhage. AJNR Am J Neuroradiol (2007) 2.69
Membrane topology of the epithelial sodium channel in intact cells. Am J Physiol (1994) 2.69
Contrasting effects of cyclosporine and rapamycin in de novo generation of alloantigen-specific regulatory T cells. Am J Transplant (2007) 2.61
Rhesus macaques previously infected with simian/human immunodeficiency virus are protected from vaginal challenge with pathogenic SIVmac239. J Virol (1997) 2.59
The Dentin matrix protein 1 (Dmp1) is specifically expressed in mineralized, but not soft, tissues during development. J Dent Res (2003) 2.48
The Concise Guide to PHARMACOLOGY 2013/14: overview. Br J Pharmacol (2013) 2.48
Noninvasive assessment of bone mineral and structure: state of the art. J Bone Miner Res (1996) 2.47
Hyperhomocysteinemia enhances vascular inflammation and accelerates atherosclerosis in a murine model. J Clin Invest (2001) 2.45
Identification of a putative alternate sigma factor and characterization of a multicomponent regulatory cascade controlling the expression of Pseudomonas syringae pv. syringae Pss61 hrp and hrmA genes. J Bacteriol (1994) 2.45
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J (1996) 2.39
On the structural basis for ionic selectivity among Na+, K+, and Ca2+ in the voltage-gated sodium channel. Biophys J (1996) 2.39
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet (2000) 2.38
Micromachined impedance spectroscopy flow cytometer for cell analysis and particle sizing. Lab Chip (2001) 2.35
The heterotetrameric architecture of the epithelial sodium channel (ENaC). EMBO J (1998) 2.34
Blockade of receptor for advanced glycation end-products restores effective wound healing in diabetic mice. Am J Pathol (2001) 2.33
Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron. Am J Physiol Renal Physiol (2001) 2.28
The Alzheimer's peptide a beta adopts a collapsed coil structure in water. J Struct Biol (2000) 2.26
Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions. J Mol Biol (1983) 2.25
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science (2000) 2.21
Cell-specific expression of epithelial sodium channel alpha, beta, and gamma subunits in aldosterone-responsive epithelia from the rat: localization by in situ hybridization and immunocytochemistry. J Cell Biol (1994) 2.18
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int (2001) 2.18
PDGF-D, a new protease-activated growth factor. Nat Cell Biol (2001) 2.17
Regulation of the Bacillus subtilis pyrimidine biosynthetic (pyr) gene cluster by an autogenous transcriptional attenuation mechanism. J Bacteriol (1994) 2.17
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet (1998) 2.16
Discs Lost, a novel multi-PDZ domain protein, establishes and maintains epithelial polarity. Cell (1999) 2.16
Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. J Clin Invest (1999) 2.15
Aldosterone induces rapid apical translocation of ENaC in early portion of renal collecting system: possible role of SGK. Am J Physiol Renal Physiol (2001) 2.13
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nat Genet (2000) 2.12
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. Proc Natl Acad Sci U S A (1995) 2.10
The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis. J Biol Chem (1997) 2.10
An SH3 binding region in the epithelial Na+ channel (alpha rENaC) mediates its localization at the apical membrane. EMBO J (1994) 2.10
Comparisons of noninvasive bone mineral measurements in assessing age-related loss, fracture discrimination, and diagnostic classification. J Bone Miner Res (1997) 2.09
Premedication with intravenous dexmedetomidine-midazolam suppresses fentanyl-induced cough. Ir J Med Sci (2012) 2.06
Organization and environmental regulation of the Pseudomonas syringae pv. syringae 61 hrp cluster. J Bacteriol (1992) 2.02