Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
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The Contribution of the Airway Epithelial Cell to Host DefenseBlood pressure and amiloride-sensitive sodium channels in vascular and renal cellsUnderstanding protein kinase CK2 mis-regulation upon F508del CFTR expressionEpithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseasesActivation of the epithelial sodium channel (ENaC) by the alkaline protease from Pseudomonas aeruginosaCustom 4-Plex DiLeu Isobaric Labels Enable Relative Quantification of Urinary Proteins in Men with Lower Urinary Tract Symptoms (LUTS)Role of epithelial sodium channels and their regulators in hypertension.Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia.Novel small molecule epithelial sodium channel inhibitors as potential therapeutics in cystic fibrosis - a patent evaluation.Hydrogen sulfide decreases β-adrenergic agonist-stimulated lung liquid clearance by inhibiting ENaC-mediated transepithelial sodium absorption.Genetic variation of the alpha subunit of the epithelial Na+ channel influences exhaled Na+ in healthy humans.Recent advances in understanding and managing cystic fibrosis transmembrane conductance regulator dysfunction.ENaCs and ASICs as therapeutic targets.Regulation of transport in the connecting tubule and cortical collecting ductGain-of-function variant of the human epithelial sodium channel.The cystic fibrosis gene: a molecular genetic perspectiveGain-of-Function Mutation W493R in the Epithelial Sodium Channel Allosterically Reconfigures Intersubunit Coupling.Chloride transport-driven alveolar fluid secretion is a major contributor to cardiogenic lung edema.Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Update in cystic fibrosis 2009.Gasotransmitters: novel regulators of epithelial na(+) transport?Proteases, cystic fibrosis and the epithelial sodium channel (ENaC).Lentiviral small hairpin RNA delivery reduces apical sodium channel activity in differentiated human airway epithelial cells.Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity.Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.δβγ-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.A mutation in the β-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect.Mapping allosteric linkage to channel gating of extracellular domains in the human epithelial sodium channel.
P2860
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P2860
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
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2009年學術文章
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name
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@en
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@nl
type
label
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@en
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@nl
prefLabel
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@en
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@nl
P2093
P50
P356
P1433
P1476
Mutations in the amiloride-sen ...... cystic fibrosis-like disease.
@en
P2093
Brigitte Boissier
Burkhard Tümmler
Carlo Castellani
Christoph Korbmacher
Claude Férec
Dragica Radojkovic
Emmanuelle Girodon
François Vermeulen
Frauke Stanke
Harry Cuppens
P304
P356
10.1002/HUMU.21011
P577
2009-07-01T00:00:00Z