(Q39591725)

English

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation

scientific article published on 6 July 2011

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scholarly article

1 reference

Europe PubMed Central

13 September 2017

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation (English)

1 reference

Europe PubMed Central

13 September 2017

cystic fibrosis

0 references

author name string

Heike Labenski

1

1 reference

Europe PubMed Central

13 September 2017

Silke Hedtfeld

2

1 reference

Europe PubMed Central

13 September 2017

Tim Becker

3

1 reference

Europe PubMed Central

13 September 2017

Burkhard Tümmler

4

1 reference

Europe PubMed Central

13 September 2017

Frauke Stanke

5

1 reference

Europe PubMed Central

13 September 2017

publication date

6 July 2011

1 reference

Europe PubMed Central

13 September 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

13 September 2017

19

1 reference

Europe PubMed Central

13 September 2017

12

1 reference

Europe PubMed Central

13 September 2017

1281-1288

1 reference

Europe PubMed Central

13 September 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.129

0 references

The role of CFTR in bicarbonate secretion by pancreatic duct and airway epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

IL1B polymorphisms modulate cystic fibrosis lung disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Mechanism of direct bicarbonate transport by the CFTR anion channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

IFNgamma signaling-does it mean JAK-STAT?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Modulation of cystic fibrosis lung disease by variants in interleukin-8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Linkage disequilibrium--understanding the evolutionary past and mapping the medical future

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Airway inflammation in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Cystic fibrosis: a review of epidemiology and pathobiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Modifier genetics: cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Effect of inflammatory stimuli on airway ion transport.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

The structure of haplotype blocks in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Control of the proinflammatory state in cystic fibrosis lung epithelial cells by genes from the TNF-alphaR/NFkappaB pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Induction of Jak/STAT signaling by activation of the type 1 TNF receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Excessive inflammatory response of cystic fibrosis mice to bronchopulmonary infection with Pseudomonas aeruginosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Early pulmonary infection, inflammation, and clinical outcomes in infants with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

14 September 2017

Activation of NF-kappaB in airway epithelial cells is dependent on CFTR trafficking and Cl- channel function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

25 September 2017

Interleukin-8 production by cystic fibrosis nasal epithelial cells after tumor necrosis factor-alpha and respiratory syncytial virus stimulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

25 September 2017

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

25 September 2017

Interleukin-1beta decreases expression of the epithelial sodium channel alpha-subunit in alveolar epithelial cells via a p38 MAPK-dependent signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

15 June 2018

A powerful strategy to account for multiple testing in the context of haplotype analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

15 June 2018

Lower airway inflammation in infants and young children with cystic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

15 June 2018

Expression and characterization of the cystic fibrosis transmembrane conductance regulator.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

15 June 2018

Genetic association analysis with FAMHAP: a major program update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Lower airway inflammation in infants with cystic fibrosis detected by newborn screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Defective lipoxin-mediated anti-inflammatory activity in the cystic fibrosis airway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Transforming growth factor-beta1 decreases expression of the epithelial sodium channel alphaENaC and alveolar epithelial vectorial sodium and fluid transport via an ERK1/2-dependent mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Increased leukotriene B4 and interleukin-6 in exhaled breath condensate in cystic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Polarized distribution of HCO3- transport in human normal and cystic fibrosis nasal epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Inflammatory response in airway epithelial cells isolated from patients with cystic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Primary inflammation in human cystic fibrosis small airways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

Exaggerated activation of nuclear factor-kappaB and altered IkappaB-beta processing in cystic fibrosis bronchial epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230365

21 August 2018

The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.129

21 January 2018

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/10.1038%2FEJHG.2011.129

21 January 2018

Genetic modifiers of lung disease in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduction of alveolar epithelial ion and fluid transport by inflammatory mediators

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family-based association analysis with tightly linked markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allotypes of alpha 1-antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for deltaF508

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered respiratory epithelial cell cytokine production in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21731057

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2011.129

1 reference

Europe PubMed Central

13 September 2017

1 reference

Europe PubMed Central

13 September 2017

1 reference

Europe PubMed Central

13 September 2017

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