Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. (Q47744567)

5 February 2018

title

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. (English)

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5 February 2018

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Robert Rauh

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Mireille Claustres

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object named as

Mireille Claustres

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François Vermeulen

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author name string

Martine Jaspers

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Judit Korbmacher

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Brigitte Boissier

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Laurence Bassinet

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Yann Fichou

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Marie des Georges

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Frauke Stanke

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Kris De Boeck

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Lieven Dupont

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Miroslava Balascáková

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Lena Hjelte

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Patrick Lebecque

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Dragica Radojkovic

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Carlo Castellani

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Marianne Schwartz

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Manfred Stuhrmann

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Martin Schwarz

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Veronika Skalicka

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Isabelle de Monestrol

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Emmanuelle Girodon

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Claude Férec

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Burkhard Tümmler

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Jean-Jacques Cassiman

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Christoph Korbmacher

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Harry Cuppens

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publication date

1 July 2009

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5 February 2018

published in

Human Mutation

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5 February 2018

volume

30

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5 February 2018

page(s)

1093-1103

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issue

7

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5 February 2018

Mucus clearance as a primary innate defense mechanism for mammalian airways

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Cystic fibrosis: a disease of vulnerability to airway surface dehydration.

21 January 2018

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7 January 2021

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

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7 January 2021

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

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7 January 2021

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

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7 January 2021

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

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7 January 2021

CFTR haplotype backgrounds on normal and mutant CFTR genes

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7 January 2021

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

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7 January 2021

Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach

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7 January 2021

The human bronchial epithelial cell line 16HBE14o- as a model system of the airways for studying drug transport

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7 January 2021

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

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7 January 2021

Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis

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7 January 2021

Post-translational modification of the beta-subunit of the human fibronectin receptor

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7 January 2021

Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH

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7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

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7 January 2021

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism

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7 January 2021

In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis

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7 January 2021

Functional Characterization of a Novel CFTR Mutation P67S Identified in a Patient with Atypical Cystic Fibrosis

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7 January 2021

Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice

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7 January 2021

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

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7 January 2021

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

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7 January 2021

Stimulation of the epithelial sodium channel (ENaC) by the serum- and glucocorticoid-inducible kinase (Sgk) involves the PY motifs of the channel but is independent of sodium feedback inhibition.

1 reference

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7 January 2021

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

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7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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7 January 2021

Functional polymorphism in the carboxyl terminus of the alpha-subunit of the human epithelial sodium channel.

1 reference

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7 January 2021

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel

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7 January 2021

Basic protocol for transepithelial nasal potential difference measurements

1 reference

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7 January 2021

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

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7 January 2021

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21011

7 January 2021

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21011

7 January 2021

Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel

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7 January 2021

CFTR as a cAMP-dependent regulator of sodium channels

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7 January 2021

Heritability of lung disease severity in cystic fibrosis

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7 January 2021

Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis

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7 January 2021

(NDRG2) stimulates amiloride-sensitive Na+ currents in Xenopus laevis oocytes and fisher rat thyroid cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21011

7 January 2021

Identifiers

DOI

10.1002/HUMU.21011

1 reference

5 February 2018

PubMed ID

19462466

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5 February 2018