(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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1

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5 February 2018

Robert Rauh

2

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5 February 2018

Mireille Claustres

25

object named as

Mireille Claustres

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5 February 2018

3

François Vermeulen

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5 February 2018

author name string

Martine Jaspers

4

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5 February 2018

Judit Korbmacher

5

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5 February 2018

Brigitte Boissier

6

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5 February 2018

Laurence Bassinet

7

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5 February 2018

Yann Fichou

8

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5 February 2018

Marie des Georges

9

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5 February 2018

Frauke Stanke

10

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5 February 2018

Kris De Boeck

11

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5 February 2018

Lieven Dupont

12

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5 February 2018

Miroslava Balascáková

13

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5 February 2018

Lena Hjelte

14

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5 February 2018

Patrick Lebecque

15

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5 February 2018

Dragica Radojkovic

16

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5 February 2018

Carlo Castellani

17

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5 February 2018

Marianne Schwartz

18

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5 February 2018

Manfred Stuhrmann

19

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5 February 2018

Martin Schwarz

20

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5 February 2018

Veronika Skalicka

21

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5 February 2018

Isabelle de Monestrol

22

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5 February 2018

Emmanuelle Girodon

23

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5 February 2018

Claude Férec

24

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5 February 2018

Burkhard Tümmler

26

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5 February 2018

Jean-Jacques Cassiman

27

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5 February 2018

Christoph Korbmacher

28

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5 February 2018

Harry Cuppens

29

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5 February 2018

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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5 February 2018

issue

7

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5 February 2018

Mucus clearance as a primary innate defense mechanism for mammalian airways

cites work

1 reference

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

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

21 January 2018

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

CFTR haplotype backgrounds on normal and mutant CFTR genes

1 reference

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

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Basic protocol for transepithelial nasal potential difference measurements

1 reference

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

7 January 2021

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

1 reference

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

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

1 reference

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

7 January 2021

CFTR as a cAMP-dependent regulator of sodium channels

1 reference

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

7 January 2021

Heritability of lung disease severity in cystic fibrosis

1 reference

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

7 January 2021

Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis

1 reference

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

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

1 reference

5 February 2018