Published in Nat Genet on September 01, 1995
Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev (2009) 6.85
WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome. EMBO J (1996) 5.24
Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination. EMBO J (1997) 4.01
Phosphorylation of Nedd4-2 by Sgk1 regulates epithelial Na(+) channel cell surface expression. EMBO J (2001) 3.43
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. Hypertension (2012) 2.86
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
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
Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. J Clin Invest (1999) 2.15
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
Genetics of human cardiovascular disease. Cell (2012) 1.90
The ubiquitin system, disease, and drug discovery. BMC Biochem (2008) 1.73
Nedd4 mediates control of an epithelial Na+ channel in salivary duct cells by cytosolic Na+. Proc Natl Acad Sci U S A (1998) 1.63
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
Angiotensin II increases activity of the epithelial Na+ channel (ENaC) in distal nephron additively to aldosterone. J Biol Chem (2011) 1.47
WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo. Proc Natl Acad Sci U S A (2007) 1.46
ERp29 regulates epithelial sodium channel functional expression by promoting channel cleavage. Am J Physiol Cell Physiol (2014) 1.46
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
Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. J Clin Invest (1998) 1.45
Functional domains within the degenerin/epithelial sodium channel (Deg/ENaC) superfamily of ion channels. J Physiol (1999) 1.45
Nedd4-2 modulates renal Na+-Cl- cotransporter via the aldosterone-SGK1-Nedd4-2 pathway. J Am Soc Nephrol (2011) 1.42
Regulation of the epithelial sodium channel by membrane trafficking. Am J Physiol Renal Physiol (2008) 1.41
Subunit composition determines the single channel kinetics of the epithelial sodium channel. J Gen Physiol (1998) 1.39
Salt handling and hypertension. J Clin Invest (2004) 1.38
Liddle's syndrome mutations disrupt cAMP-mediated translocation of the epithelial Na(+) channel to the cell surface. J Clin Invest (2000) 1.32
Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. J Clin Invest (1996) 1.30
Endothelin-1 inhibits the epithelial Na+ channel through betaPix/14-3-3/Nedd4-2. J Am Soc Nephrol (2010) 1.22
Positional identification of variants of Adamts16 linked to inherited hypertension. Hum Mol Genet (2009) 1.21
Sodium and potassium balance depends on αENaC expression in connecting tubule. J Am Soc Nephrol (2010) 1.21
Role of epithelial sodium channels and their regulators in hypertension. J Biol Chem (2010) 1.20
A new essential hypertension susceptibility locus on chromosome 2p24-p25, detected by genomewide search. Am J Hum Genet (2002) 1.20
HECT E3s and human disease. BMC Biochem (2007) 1.19
Regulation of transport in the connecting tubule and cortical collecting duct. Compr Physiol (2012) 1.16
Role of the ubiquitin system in regulating ion transport. Pflugers Arch (2010) 1.12
Open probability of the epithelial sodium channel is regulated by intracellular sodium. J Physiol (2006) 1.11
Loss of protein kinase C inhibition in the beta-T594M variant of the amiloride-sensitive Na+ channel. Proc Natl Acad Sci U S A (1997) 1.10
Chronic angiotensin II infusion drives extensive aldosterone-independent epithelial Na+ channel activation. Hypertension (2013) 1.08
Epithelial Na(+) channel regulation by cytoplasmic and extracellular factors. Exp Cell Res (2012) 1.08
Genes for blood pressure: an opportunity to understand hypertension. Eur Heart J (2013) 1.07
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). J Med Genet (2000) 1.07
Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study. Circ Cardiovasc Genet (2011) 1.06
Bradykinin acutely inhibits activity of the epithelial Na+ channel in mammalian aldosterone-sensitive distal nephron. Am J Physiol Renal Physiol (2011) 1.06
Mendelian forms of human hypertension and mechanisms of disease. Clin Med Res (2003) 1.06
Airway surface liquid volume regulation determines different airway phenotypes in liddle compared with betaENaC-overexpressing mice. J Biol Chem (2010) 1.05
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. BMC Med Genet (2005) 1.01
Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits. Biochem J (2000) 1.01
Genetics of hypertension: from experimental animals to humans. Biochim Biophys Acta (2009) 1.00
Down-regulation of intestinal apical calcium entry channel TRPV6 by ubiquitin E3 ligase Nedd4-2. J Biol Chem (2010) 1.00
Regulation of epithelial sodium channel trafficking by ubiquitination. Proc Am Thorac Soc (2010) 1.00
Identification of the UBP1 locus as a critical blood pressure determinant using a combination of mouse and human genetics. PLoS Genet (2009) 1.00
Determination of epithelial Na+ channel subunit stoichiometry from single-channel conductances. J Gen Physiol (2007) 1.00
Regulation of the epithelial sodium channel (ENaC) by membrane trafficking. Biochim Biophys Acta (2010) 0.99
Heritable forms of hypertension. Pediatr Nephrol (2007) 0.98
Genetics of arterial hypertension and hypotension. Naunyn Schmiedebergs Arch Pharmacol (2007) 0.97
Participation of the ubiquitin-conjugating enzyme UBE2E3 in Nedd4-2-dependent regulation of the epithelial Na+ channel. Mol Cell Biol (2004) 0.97
Unraveling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet (2003) 0.96
Vasopressin-stimulated CFTR Cl- currents are increased in the renal collecting duct cells of a mouse model of Liddle's syndrome. J Physiol (2004) 0.94
Genetic mapping of two blood pressure quantitative trait loci on rat chromosome 1. J Clin Invest (1996) 0.94
The molecular and genetic base of congenital transport defects. Gut (2000) 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
Salt-dependent inhibition of epithelial Na+ channel-mediated sodium reabsorption in the aldosterone-sensitive distal nephron by bradykinin. Hypertension (2012) 0.90
Intrinsic control of sodium excretion in the distal nephron by inhibitory purinergic regulation of the epithelial Na(+) channel. Curr Opin Nephrol Hypertens (2012) 0.90
Regulation of the epithelial sodium channel [ENaC] in kidneys of salt-sensitive Dahl rats: insights on alternative splicing. Int Arch Med (2009) 0.89
Direct activation of ENaC by angiotensin II: recent advances and new insights. Curr Hypertens Rep (2013) 0.89
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene (2016) 0.89
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
Role of the epithelial sodium channel in salt-sensitive hypertension. Acta Pharmacol Sin (2011) 0.88
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
Exploration of the pore structure of a peptide-gated Na+ channel. EMBO J (2001) 0.88
Trafficking to the apical and basolateral membranes in polarized epithelial cells. J Am Soc Nephrol (2014) 0.88
8-pCPT-cGMP stimulates alphabetagamma-ENaC activity in oocytes as an external ligand requiring specific nucleotide moieties. Am J Physiol Renal Physiol (2009) 0.87
Abnormalities of nasal potential difference measurement in Liddle's syndrome. J Clin Invest (1998) 0.87
Aldosterone and vascular mineralocorticoid receptors: regulators of ion channels beyond the kidney. Hypertension (2013) 0.85
Nedd4-2 and the regulation of epithelial sodium transport. Front Physiol (2012) 0.85
Intracellular ubiquitylation of the epithelial Na+ channel controls extracellular proteolytic channel activation via conformational change. J Biol Chem (2010) 0.85
Blood pressure and human genetic variation in the general population. Curr Opin Cardiol (2010) 0.85
Renal tubular transport and the genetic basis of hypertensive disease. Clin Exp Nephrol (2005) 0.85
WNK4 inhibition of ENaC is independent of Nedd4-2-mediated ENaC ubiquitination. Am J Physiol Renal Physiol (2013) 0.84
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
Overexpression of the epithelial Na+ channel gamma subunit in collecting duct cells: interactions of Liddle's mutations and steroids on expression and function. J Biol Chem (2005) 0.83
Urinary serine proteases and activation of ENaC in kidney--implications for physiological renal salt handling and hypertensive disorders with albuminuria. Pflugers Arch (2014) 0.83
Pediatric endocrine hypertension. Indian J Endocrinol Metab (2011) 0.82
Ion channel associated diseases: overview of molecular mechanisms. Chem Rev (2012) 0.82
Resveratrol inhibits the epithelial sodium channel via phopshoinositides and AMP-activated protein kinase in kidney collecting duct cells. PLoS One (2013) 0.82
Bile acids increase the activity of the epithelial Na+ channel. Pflugers Arch (2013) 0.81
The genetics of essential hypertension. Br J Clin Pharmacol (2001) 0.81
Pivotal role of the kidney in hypertension. Am J Med Sci (2010) 0.81
Associations of epithelial sodium channel genes with blood pressure changes and hypertension incidence: the GenSalt study. Am J Hypertens (2014) 0.81
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q. Am J Hum Genet (1998) 0.80
Direct regulation of ENaC by bradykinin in the distal nephron. Implications for renal sodium handling. Curr Opin Nephrol Hypertens (2014) 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
Genetic variation in CYP4A11 and blood pressure response to mineralocorticoid receptor antagonism or ENaC inhibition: an exploratory pilot study in African Americans. J Am Soc Hypertens (2014) 0.80
Ion channels and the control of blood pressure. Br J Clin Pharmacol (2000) 0.80
Maintenance of normal blood pressure is dependent on IP3R1-mediated regulation of eNOS. Proc Natl Acad Sci U S A (2016) 0.79
Liddle syndrome in a Serbian family and literature review of underlying mutations. Eur J Pediatr (2011) 0.79
Ion channels in renal disease. Chem Rev (2012) 0.79
The transcriptional landscape of the mammalian genome. Science (2005) 37.63
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature (2002) 28.79
Functional annotation of a full-length mouse cDNA collection. Nature (2001) 23.61
Antisense transcription in the mammalian transcriptome. Science (2005) 15.69
Lac repressor-operator interaction. I. Equilibrium studies. J Mol Biol (1970) 13.32
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
Structural parts involved in activation and inactivation of the sodium channel. Nature (1989) 8.72
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
Existence of distinct sodium channel messenger RNAs in rat brain. Nature (1986) 7.87
Human neutralizing monoclonal antibodies of the IgG1 subtype protect against mucosal simian-human immunodeficiency virus infection. Nat Med (2000) 7.48
New topoisomerase essential for chromosome segregation in E. coli. Cell (1990) 7.19
On the process of cellular division in Escherichia coli: a series of mutants of E. coli altered in the penicillin-binding proteins. Proc Natl Acad Sci U S A (1978) 6.93
Blockade of RAGE-amphoterin signalling suppresses tumour growth and metastases. Nature (2000) 6.70
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
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
Role of arabidopsis MYC and MYB homologs in drought- and abscisic acid-regulated gene expression. Plant Cell (1997) 5.12
Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature (1994) 5.00
On the process of cellular division in Escherichia coli: a mutant of E. coli lacking a murein-lipoprotein. Proc Natl Acad Sci U S A (1977) 4.58
Mutants of Escherichia coli lacking in highly penicillin-sensitive D-alanine carboxypeptidase activity. Proc Natl Acad Sci U S A (1977) 4.44
Inactivation of the tumor suppressor PTEN/MMAC1 in advanced human prostate cancer through loss of expression. Proc Natl Acad Sci U S A (1998) 4.40
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
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet (1996) 3.84
Array-based genomic resequencing of human leukemia. Oncogene (2010) 3.77
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
Acetylcholine releases endothelium-derived hyperpolarizing factor and EDRF from rat blood vessels. Br J Pharmacol (1988) 3.66
Phosphorylation and inactivation of glycogen synthase kinase 3 by protein kinase A. Proc Natl Acad Sci U S A (2000) 3.61
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet (1996) 3.58
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
Gene fliA encodes an alternative sigma factor specific for flagellar operons in Salmonella typhimurium. Mol Gen Genet (1990) 3.49
Latent and active p53 are identical in conformation. Nat Struct Biol (2001) 3.47
On the process of cellular division in Escherichia coli: nucleotide sequence of the gene for penicillin-binding protein 3. Mol Gen Genet (1983) 3.43
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
A novel transcriptional regulation mechanism in the flagellar regulon of Salmonella typhimurium: an antisigma factor inhibits the activity of the flagellum-specific sigma factor, sigma F. Mol Microbiol (1992) 3.31
Primary structure of the alpha-subunit of transducin and its relationship to ras proteins. Nature (1985) 3.28
The membrane properties of the smooth muscle cells of the rabbit main pulmonary artery. J Physiol (1977) 3.24
Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin. Neuron (2001) 3.20
A high-throughput SNP typing system for genome-wide association studies. J Hum Genet (2001) 3.18
Excitation-contraction coupling in the smooth muscle cells of the rabbit main pulmonary artery. J Physiol (1977) 3.06
Lansoprazole, a novel benzimidazole proton pump inhibitor, and its related compounds have selective activity against Helicobacter pylori. Antimicrob Agents Chemother (1991) 3.05
Isolation of specific RNA's using DNA covalently linked to diazobenzyloxymethyl cellulose or paper. Methods Enzymol (1979) 3.04
Involvement of interleukin-8, vascular endothelial growth factor, and basic fibroblast growth factor in tumor necrosis factor alpha-dependent angiogenesis. Mol Cell Biol (1997) 3.02
Hypocholesterolemia is associated with immune dysfunction in early human immunodeficiency virus-1 infection. Am J Med (1993) 2.96
Expression of functional sodium channels from cloned cDNA. Nature (1986) 2.95
NEDD8 recruits E2-ubiquitin to SCF E3 ligase. EMBO J (2001) 2.94
Excitation--contraction coupling in smooth muscle cells of the guinea-pig mesenteric artery. J Physiol (1981) 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
Murein-lipoprotein of Escherichia coli: a protein involved in the stabilization of bacterial cell envelope. Mol Gen Genet (1978) 2.84
Increased insulin sensitivity and hypoglycaemia in mice lacking the p85 alpha subunit of phosphoinositide 3-kinase. Nat Genet (1999) 2.81
Excess amantadine use and resistant viruses. Lancet (2001) 2.81
Hepatitis B e antigen and infectivity of hepatitis B virus. J Infect Dis (1977) 2.80
A single point mutation confers tetrodotoxin and saxitoxin insensitivity on the sodium channel II. FEBS Lett (1989) 2.73
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
Role for the class A macrophage scavenger receptor in the phagocytosis of apoptotic thymocytes in vitro. Proc Natl Acad Sci U S A (1996) 2.69
Innervation and properties of the smooth muscle of the dog trachea. Jpn J Physiol (1976) 2.65
Factors modifying contraction-relaxation cycle in vascular smooth muscles. Am J Physiol (1982) 2.63
Aberrant methylation in gastric cancer associated with the CpG island methylator phenotype. Cancer Res (1999) 2.62
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 role of cAMP in flagellation of Salmonella typhimurium. Mol Gen Genet (1976) 2.54
Purification and characterization of DNA topoisomerase IV in Escherichia coli. J Biol Chem (1992) 2.50
The Concise Guide to PHARMACOLOGY 2013/14: overview. Br J Pharmacol (2013) 2.48
The Dentin matrix protein 1 (Dmp1) is specifically expressed in mineralized, but not soft, tissues during development. J Dent Res (2003) 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
Ampulla cardiomyopathy ('Takotusbo' cardiomyopathy)--reversible left ventricular dysfunction: with ST segment elevation. Jpn Circ J (2000) 2.39
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
Lysis of adhesions and epidural injection of steroid/local anaesthetic during epiduroscopy potentially alleviate low back and leg pain in elderly patients with lumbar spinal stenosis. Br J Anaesth (2004) 2.38
Micromachined impedance spectroscopy flow cytometer for cell analysis and particle sizing. Lab Chip (2001) 2.35
Diverse molecular interactions of the hnRNP K protein. FEBS Lett (1997) 2.35