(Q33953461)

30 July 2017

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title

Genotype-phenotype relationships in cystic fibrosis (English)

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30 July 2017

0 references

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Mickle JE

1

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30 July 2017

Cutting GR

series ordinal

2

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30 July 2017

publication date

1 May 2000

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Medical Clinics of North America

30 July 2017

published in

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30 July 2017

volume

84

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30 July 2017

issue

3

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30 July 2017

page(s)

597-607

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Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

30 July 2017

cites work

1 reference

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Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation

7 January 2021

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Cl- transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epithelial Na+ channels (ENaCs) in Xenopus oocytes co-expressing CFTR and ENaC.

7 January 2021

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Expression cloning of the epithelial sodium channel

7 January 2021

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

7 January 2021

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Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis

7 January 2021

1 reference

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

7 January 2021

1 reference

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Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

7 January 2021

1 reference

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Pulmonary Function and Clinical Observations in Men With Congenital Bilateral Absence of the Vas Deferens

7 January 2021

1 reference

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Familial concordance of pancreatic function in cystic fibrosis

7 January 2021

1 reference

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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

7 January 2021

1 reference

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Correlation between genotype and phenotype in patients with cystic fibrosis

7 January 2021

1 reference

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Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.

7 January 2021

1 reference

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Cystic fibrosis in the mouse by targeted insertional mutagenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

7 January 2021

1 reference

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Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

7 January 2021

1 reference

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Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

7 January 2021

1 reference

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Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

7 January 2021

1 reference

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Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents

7 January 2021

1 reference

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Correlation between genotype and phenotype in patients with cystic fibrosis

7 January 2021

1 reference

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A Cystic Fibrosis Mutation Associated with Mild Lung Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Cystic fibrosis and the salt controversy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Cystic fibrosis transmembrane conductance regulator is required for protein kinase A activation of an outwardly rectified anion channel purified from bovine tracheal epithelia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Interaction between cystic fibrosis transmembrane conductance regulator and outwardly rectified chloride channels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Lung disease in mice with cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

A mutation in CFTR produces different phenotypes depending on chromosomal background

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Expression cloning of an epithelial amiloride-sensitive Na+ channel. A new channel type with homologies to Caenorhabditis elegans degenerins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Cystic fibrosis and reproduction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

CFTR and outward rectifying chloride channels are distinct proteins with a regulatory relationship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

An animal model for cystic fibrosis made by gene targeting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

CFTR as a cAMP-dependent regulator of sodium channels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Identification of revertants for the cystic fibrosis delta F508 mutation using STE6-CFTR chimeras in yeast

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

The genesis of cystic fibrosis lung disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

CFTR gene and male fertility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

THERAPIES DIRECTED AT THE BASIC DEFECT IN CYSTIC FIBROSIS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Novel pharmacologic therapies for cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0025-7125%2805%2970243-1

10.1016/S0025-7125(05)70243-1

7 January 2021

Identifiers

DOI

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30 July 2017

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