ReviewEuropean journal of human genetics : EJHG1996
The molecular basis for disease variability in cystic fibrosis.
Review in European journal of human genetics : EJHG, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.European journal of human genetics : EJHG · 2009Guideline
- Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation.Autophagy · 2014Trial
- Distinct regulatory elements of SLC6A14 expression contribute to modification of cystic fibrosis phenotypes.Human genetics · 2026Article
- Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisIranian biomedical journal · 2022Article
- Pharmacological chaperone-rescued cystic fibrosis CFTR-F508del mutant overcomes PRAF2-gated access to endoplasmic reticulum exit sites.Cellular and molecular life sciences : CMLS · 2022Article
- Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2021Article
- Quantification of Phenotypic Variability of Lung Disease in Children with Cystic Fibrosis.Genes · 2021Review
- Homozygous Deletion of theJournal of pediatric genetics · 2019Article
- In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.PloS one · 2017Article
- Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis.BMJ open respiratory research · 2016Article
- Precision Genomic Medicine in Cystic Fibrosis.Clinical and translational science · 2015Review
- Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.American journal of human genetics · 2012Article
- Article
- Detection of cystic fibrosis transmembrane conductance regulator activity in early-phase clinical trials.Proceedings of the American Thoracic Society · 2007Review
- Host resistance to lung infection mediated by major vault protein in epithelial cells.Science (New York, N.Y.) · 2007Article
- Readministration of helper-dependent adenovirus to mouse lung.Gene therapy · 2006Article
- Article
- The cystic fibrosis transmembrane regulator gene and male infertility.Journal of endocrinological investigation · 2000Review
- SNPing away at innate immunity.The Journal of clinical investigation · 1999Review
- Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.Journal of medical genetics · 1998Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized by a wide variability of clinical expression. The cloning of the CFTR gene and the identification of its mutations has promoted extensive research into the association between genotype and phenotype. Several studies showed that there are mutations, like the delta F508 (the most common mutation worldwide), which are associated with a severe phenotype and there are mutations associated with a milder phenotype. However, there is a substantial variability in disease expression among patients carrying the same mutation. This variability involves also the severity of lung disease. Furthermore, increased frequencies of mutations are found among patients with incomplete CF expression which includes male infertility due to congenital bilateral absence of the vas deferens. In vitro studies of the CFTR function suggested that different mutations cause different defects in protein production and function. The mechanisms by which mutations disrupt CFTR function are defective protein production, processing, channel regulation, and conductance. In addition, reduced levels of the normal CFTR mRNA are associated with the CF disease. These mutations are associated with a highly variable phenotype from healthy individuals or infertile males to a typical CF disease. This variability in disease expression is associated with different levels of normally spliced transcripts. Further understanding the mechanisms of CFTR dysfunction may suggest different therapeutic strategies for each class of mutations.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.