(Q41212056)

28 September 2017

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

1 reference

28 September 2017

0 references

0 references

Frauke Stanke

1

1 reference

28 September 2017

Tim Becker

2

1 reference

28 September 2017

Vinod Kumar

3

1 reference

28 September 2017

Silke Hedtfeld

4

1 reference

28 September 2017

Christian Becker

5

1 reference

28 September 2017

Harry Cuppens

6

1 reference

28 September 2017

Stephanie Tamm

7

1 reference

28 September 2017

Jennifer Yarden

8

1 reference

28 September 2017

Ulrike Laabs

9

1 reference

28 September 2017

Benny Siebert

10

1 reference

28 September 2017

Luis Fernandez

11

1 reference

28 September 2017

Milan Macek

12

1 reference

28 September 2017

Dragica Radojkovic

13

1 reference

28 September 2017

Manfred Ballmann

14

1 reference

28 September 2017

Joachim Greipel

15

1 reference

28 September 2017

Jean-Jacques Cassiman

16

1 reference

28 September 2017

Burkhard Tümmler

18

1 reference

28 September 2017

Thomas F. Wienker

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

12 July 2024

language of work or name

English

0 references

publication date

12 September 2010

1 reference

full work available at URL

28 September 2017

https://jmg.bmj.com/content/jmedgenet/48/1/24.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

http://jmg.bmjjournals.com/cgi/content/abstract/48/1/24

12 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20837493/?tool=EBI

12 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20837493/pdf/?tool=EBI

12 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

https://europepmc.org/articles/PMC3003880

12 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

https://europepmc.org/articles/PMC3003880?pdf=render

12 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20837493

https://syndication.highwire.org/content/doi/10.1136/jmg.2010.080937

12 July 2024

1 reference

Crossref

DOI

10.1136/JMG.2010.080937

https://api.crossref.org/works/10.1136/JMG.2010.080937

Journal of Medical Genetics

12 July 2024

published in

1 reference

28 September 2017

48

1 reference

28 September 2017

1

1 reference

28 September 2017

24-31

1 reference

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

1 reference

28 September 2017

1 reference

28 September 2017

1 reference