ArticleThe Journal of clinical investigation2001
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.
Article in The Journal of clinical investigation, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- Interventions for promoting participation in shared decision-making for children and adolescents with cystic fibrosis.The Cochrane database of systematic reviews · 2019Pooled it
- Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation.Chest · 2012Trial
- Trial
- Effects of lumacaftor-ivacaftor therapy on cystic fibrosis transmembrane conductance regulator function in F508del homozygous patients with cystic fibrosis aged 2-11 years.Frontiers in pharmacology · 2023Article
- Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy.Frontiers in pharmacology · 2023Article
- Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus inEpigenetics · 2022Article
- IL1B gene variants, but not TNF, CXCL8, IL6 and IL10, modify the course of cystic fibrosis in Polish patients.F1000Research · 2022Article
- Membrane proteins enter the fold.Current opinion in structural biology · 2021Review
- Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.Scientific reports · 2020Article
- An Intriguing Involvement of Mitochondria in Cystic Fibrosis.Journal of clinical medicine · 2019Review
- Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.Nature communications · 2017Article
- In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.PloS one · 2017Article
- Intestinal current measurement versus nasal potential difference measurements for diagnosis of cystic fibrosis: a case-control study.BMC pulmonary medicine · 2014Article
- Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.Science translational medicine · 2014Article
- The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells.European journal of human genetics : EJHG · 2014Article
- CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.European journal of human genetics : EJHG · 2013Article
- Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation.European respiratory review : an official journal of the European Respiratory Society · 2013Review
- The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?Frontiers in genetics · 2013Article
- In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands.PloS one · 2013Article
- Multicenter intestinal current measurements in rectal biopsies from CF and non-CF subjects to monitor CFTR function.PloS one · 2013Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the impact of chloride (Cl(-)) permeability, mediated by residual activity of the cystic fibrosis transmembrane conductance regulator (CFTR) or by other Cl(-) channels, on the manifestations of cystic fibrosis (CF), we determined Cl(-) transport properties of the respiratory and intestinal tracts in Delta F508 homozygous twins and siblings. In the majority of patients, cAMP and/or Ca(2+)-regulated Cl(-) conductance was detected in the airways and intestine. Our finding of cAMP-mediated Cl(-) conductance suggests that, in vivo, at least some Delta F508 CFTR can reach the plasma membrane and affect Cl(-) permeability. In respiratory tissue, the expression of basal CFTR-mediated Cl(-) conductance, demonstrated by 30% of Delta F508 homozygotes, was identified as a positive predictor of milder CF disease. In intestinal tissue, 4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid-insensitive (DIDS-insensitive) Cl(-) secretion, which is indicative of functional CFTR channels, correlated with a milder phenotype, whereas DIDS-sensitive Cl(-) secretion was observed mainly in more severely affected patients. The more concordant Cl(-) secretory patterns within monozygous twins compared with dizygous pairs imply that genes other than CFTR significantly influence the manifestation of the basic defect.
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