Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia (Q41212056)

28 September 2017

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

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28 September 2017

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Frauke Stanke

1

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28 September 2017

Tim Becker

2

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28 September 2017

Vinod Kumar

3

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28 September 2017

Silke Hedtfeld

4

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28 September 2017

Christian Becker

5

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28 September 2017

Harry Cuppens

6

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28 September 2017

Stephanie Tamm

7

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28 September 2017

Jennifer Yarden

8

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28 September 2017

Ulrike Laabs

9

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28 September 2017

Benny Siebert

10

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28 September 2017

Luis Fernandez

11

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28 September 2017

Milan Macek

12

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28 September 2017

Dragica Radojkovic

13

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28 September 2017

Manfred Ballmann

14

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28 September 2017

Joachim Greipel

15

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28 September 2017

Jean-Jacques Cassiman

16

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28 September 2017

Thomas F Wienker

17

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28 September 2017

Burkhard Tümmler

18

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28 September 2017

language of work or name

English

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publication date

12 September 2010

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Journal of Medical Genetics

28 September 2017

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28 September 2017

48

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28 September 2017

24-31

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28 September 2017

1

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Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Genetic and non-genetic determinants of outcomes in cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Update on gene modifiers in cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

A second generation human haplotype map of over 3.1 million SNPs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Current issues in quality improvement in cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Cystic fibrosis: a review of epidemiology and pathobiology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Heritability of lung disease severity in cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Cystic fibrosis since 1938.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Modifier genetics: cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Effect of inflammatory stimuli on airway ion transport.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Basic protocol for transepithelial nasal potential difference measurements

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Wasting as an independent predictor of mortality in patients with cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

A twin-pronged attack on complex traits

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Genetic association analysis with FAMHAP: a major program update

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

Determinants of mortality from cystic fibrosis in Canada, 1970-1989.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3003880

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

2 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Family-based association analysis with tightly linked markers

1 reference

12 December 2020

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

1 reference

12 December 2020

Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

1 reference

12 December 2020

Genetic modifiers of lung disease in cystic fibrosis

1 reference

12 December 2020

Genetic modifiers in cystic fibrosis

1 reference

12 December 2020

Reduction of alveolar epithelial ion and fluid transport by inflammatory mediators

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

European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2010.080937

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28 September 2017

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28 September 2017

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