(Q36042699)

11 August 2017

Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings (English)

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11 August 2017

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I Bronsveld

1

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11 August 2017

F Mekus

2

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11 August 2017

J Bijman

3

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11 August 2017

M Ballmann

4

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11 August 2017

H R de Jonge

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11 August 2017

U Laabs

6

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11 August 2017

D J Halley

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11 August 2017

H Ellemunter

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11 August 2017

G Mastella

9

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11 August 2017

S Thomas

10

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11 August 2017

H J Veeze

11

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11 August 2017

B Tümmler

12

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11 August 2017

language of work or name

English

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publication date

1 December 2001

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Journal of Clinical Investigation

11 August 2017

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11 August 2017

108

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11 August 2017

1705-1715

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11 August 2017

11

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Factors associated with poor pulmonary function: cross-sectional analysis of data from the ERCF. European Epidemiologic Registry of Cystic Fibrosis

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Molecular cloning and transmembrane structure of hCLCA2 from human lung, trachea, and mammary gland

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Genomic cloning, molecular characterization, and functional analysis of human CLCA1, the first human member of the family of Ca2+-activated Cl- channel proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

In vivo activation of the cystic fibrosis transmembrane conductance regulator mutant deltaF508 in murine nasal epithelium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Turnover of the cystic fibrosis transmembrane conductance regulator (CFTR): slow degradation of wild-type and delta F508 CFTR in surface membrane preparations of immortalized airway epithelial cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Mapping quantitative trait loci with extreme discordant sib pairs: sampling considerations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

A mouse model for the cystic fibrosis delta F508 mutation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Changes in the normal maximal expiratory flow-volume curve with growth and aging

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Mechanism of chloride secretion induced by carbachol in a colonic epithelial cell line

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Identification of the cystic fibrosis gene: genetic analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Regulation of transepithelial ion transport and intracellular calcium by extracellular ATP in human normal and cystic fibrosis airway epithelium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

On the potential of simple repetitive DNA for fingerprinting in clinical, forensic, and evolutionary dynamic studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Chloride channels in the apical membrane of normal and cystic fibrosis airway and intestinal epithelia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Both CFTR and outwardly rectifying chloride channels contribute to cAMP-stimulated whole cell chloride currents

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

The secretory actions of histamine in rat small intestine

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Rapid nonradioactive detection of the major cystic fibrosis mutation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Generation of cAMP-Activated Chloride Currents by Expression of CFTR

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Arachidonic acid metabolites and chloride secretion in rabbit distal colonic mucosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Optimal selection of sib pairs from random samples for linkage analysis of a QTL using the EDAC test.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Locating human quantitative trait loci: guidelines for the selection of sibling pairs for genotyping

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=200980

Pulmonary disease severity in men with deltaF508 cystic fibrosis and residual chloride secretion

23 September 2018

1 reference

12 December 2020

Efficiency of two different nine-loci short tandem repeat systems for DNA typing purposes

1 reference

12 December 2020

Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis

1 reference

12 December 2020

Forskolin stimulates adenylate cyclase in human colonic crypts: interaction with VIP

1 reference

12 December 2020

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development

1 reference

12 December 2020

A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis

1 reference

12 December 2020

Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis

1 reference

12 December 2020

Twin studies in medical research: can they tell us whether diseases are genetically determined?

1 reference

12 December 2020

Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland

1 reference

12 December 2020

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium

1 reference

12 December 2020

Extreme discordant sib pairs for mapping quantitative trait loci in humans

1 reference

12 December 2020

Aerosolized amiloride: dose effect on nasal bioelectric properties, pharmacokinetics, and effect on sputum expectoration in patients with cystic fibrosis

1 reference

12 December 2020

Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis

1 reference

12 December 2020

Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI12108

1 reference

11 August 2017

1 reference

11 August 2017

1 reference