Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease (Q34652243)

3 August 2017

Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease (English)

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3 August 2017

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Edward F McKone

1

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3 August 2017

Jing Shao

2

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3 August 2017

Daisy D Frangolias

3

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3 August 2017

Cassie L Keener

4

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3 August 2017

Cynthia A Shephard

5

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3 August 2017

Federico M Farin

6

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3 August 2017

Mark R Tonelli

7

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3 August 2017

Peter D Pare

8

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3 August 2017

Andrew J Sandford

9

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3 August 2017

Moira L Aitken

10

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3 August 2017

Terrance J Kavanagh

11

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3 August 2017

language of work or name

English

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publication date

11 May 2006

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American Journal of Respiratory and Critical Care Medicine

3 August 2017

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3 August 2017

174

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3 August 2017

4

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3 August 2017

415-419

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Oxidant stress suppresses CFTR expression

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

CFTR directly mediates nucleotide-regulated glutathione flux.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Population stratification and spurious allelic association

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Modifier genes and variation in cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Synthetic chloride channel restores glutathione secretion in cystic fibrosis airway epithelia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Evidence for functionally significant polymorphism of human glutamate cysteine ligase catalytic subunit: association with glutathione levels and drug resistance in the National Cancer Institute tumor cell line panel

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Oxidative stress and regulation of glutathione in lung inflammation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Abnormal glutathione transport in cystic fibrosis airway epithelia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Glutathione permeability of CFTR.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Pulmonary oxidative stress response in young children with cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Genetic mapping of GLCLC, the human gene encoding the catalytic subunit of gamma-glutamyl-cysteine synthetase, to chromosome band 6p12 and characterization of a polymorphic trinucleotide repeat within its 5' untranslated region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Mapping of the glutamate-cysteine ligase catalytic subunit gene (GLCLC) to human chromosome 6p12 and mouse chromosome 9D-E and of the regulatory subunit gene (GLCLR) to human chromosome 1p21-p22 and mouse chromosome 3H1-3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Lower respiratory infection and inflammation in infants with newly diagnosed cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

The regulation of hepatic glutathione

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Genetic determination of exocrine pancreatic function in cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

The spectrum of cystic fibrosis mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.

7 July 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

End-organ dysfunction in cystic fibrosis: association with angiotensin I converting enzyme and cytokine gene polymorphisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Endothelial Nitric Oxide Synthase Variants in Cystic Fibrosis Lung Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Cystic fibrosis, disease severity, and a macrophage migration inhibitory factor polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Liver disease in pediatric patients with cystic fibrosis is associated with glutathione S-transferase P1 polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Improvement of alveolar glutathione and lung function but not oxidative state in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Dyslipidemia of chronic renal failure: the nature, mechanisms, and potential consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200508-1281OC

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648118

Variable Severity of Pulmonary Disease in Adults with Identical Cystic Fibrosis Mutations

26 October 2018

1 reference

12 December 2020

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

1 reference

12 December 2020

Seeking modifier genes in cystic fibrosis

1 reference

12 December 2020

Aberrant free radical activity in cystic fibrosis

1 reference

12 December 2020

Systemic deficiency of glutathione in cystic fibrosis

1 reference

12 December 2020

Bronchoalveolar lavage findings in cystic fibrosis patients with stable, clinically mild lung disease suggest ongoing infection and inflammation

1 reference

12 December 2020

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

1 reference

12 December 2020

Early pulmonary inflammation in infants with cystic fibrosis

1 reference

12 December 2020

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

1 reference

12 December 2020

3849+10 kb C-->T mutation and disease severity in cystic fibrosis

1 reference

12 December 2020

Neutrophil-derived long-lived oxidants in cystic fibrosis sputum

1 reference

12 December 2020

Pulmonary dysfunction in cystic fibrosis is associated with oxidative stress

1 reference

12 December 2020

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

1 reference

12 December 2020

Genetic modifiers of lung disease in cystic fibrosis

1 reference

12 December 2020

10.1164/RCCM.200508-1281OC

Identifiers

DOI

1 reference

3 August 2017

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3 August 2017

1 reference