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

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11 August 2017

F Mekus

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11 August 2017

J Bijman

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11 August 2017

M Ballmann

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11 August 2017

H R de Jonge

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11 August 2017

U Laabs

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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

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11 August 2017

S Thomas

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11 August 2017

H J Veeze

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11 August 2017

B Tümmler

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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

11

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11 August 2017

1705-1715

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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

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11 August 2017

PubMed publication ID

11733566

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