ReviewHuman molecular genetics2018
Recent advances in developing therapeutics for cystic fibrosis.
Review in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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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
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic Review of Nasal Endoscopy Scores in Cystic Fibrosis Patients Treated With Cystic Fibrosis Transmembrane Conductance Regulator Modulators.Pediatric pulmonology · 2026Pooled it
- Single-cell RNA-sequencing co-expression analysis with CFTR and CF modifier genes in lung tissue.Scientific reports · 2025Article
- On the analysis of genetic association with long-read sequencing data.PLoS genetics · 2025Article
- CFTR Gene Regulation in Human Pancreatic Duct, Bile Duct and Sweat Gland Epithelial Cells.Journal of cellular and molecular medicine · 2025Article
- [Transmembrane protein 16A--a new target for the treatment of airway inflammatory diseases].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Efficient storage and regression computation for population-scale genome sequencing studies.Bioinformatics (Oxford, England) · 2025Article
- Efficient storage and regression computation for population-scale genome sequencing studies.bioRxiv : the preprint server for biology · 2025Article
- ANO1: central role and clinical significance in non-neoplastic and neoplastic diseases.Frontiers in immunology · 2025Review
- Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2025Article
- Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.Molecular biology reports · 2024Article
- The impact of genomic distance on enhancer-promoter interactions at the CFTR locus.Journal of cellular and molecular medicine · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Cystic fibrosis-related mortality in the United States from 1999 to 2020: an observational analysis of time trends and disparities.Scientific reports · 2023Observational
- A Cell-Based Optimised Approach for Rapid and Efficient Gene Editing of Human Pluripotent Stem Cells.International journal of molecular sciences · 2023Article
- High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.HGG advances · 2023Article
- Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.NPJ genomic medicine · 2022Article
- Human Molecular Genetics and the long road to treating cystic fibrosis.Human molecular genetics · 2021Review
- Sheep models of F508del and G542X cystic fibrosis mutations show cellular responses to human therapeutics.FASEB bioAdvances · 2021Article
- SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2021Observational
- The CaActa pharmaceutica Sinica. B · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Despite hope that a cure was imminent when the causative gene was cloned nearly 30 years ago, cystic fibrosis (CF [MIM: 219700]) remains a life-shortening disease affecting more than 70 000 individuals worldwide. However, within the last 6 years the Food and Drug Administration's approval of Ivacaftor, the first drug that corrects the defective cystic fibrosis transmembrane conductance regulator protein [CFTR (MIM: 602421)] in patients with the G551D mutation, marks a watershed in the development of novel therapeutics for this devastating disease. Here we review recent progress in diverse research areas, which all focus on curing CF at the genetic, biochemical or physiological level. In the near future it seems probable that development of mutation-specific therapies will be the focus, since it is unlikely that any one approach will be efficient in correcting the more than 2000 disease-associated variants. We discuss the new drugs and combinations of drugs that either enhance delivery of misfolded CFTR protein to the cell membrane, where it functions as an ion channel, or that activate channel opening. Next we consider approaches to correct the causative genetic lesion at the DNA or RNA level, through repressing stop mutations and nonsense-mediated decay, modulating splice mutations, fixing errors by gene editing or using novel routes to gene replacement. Finally, we explore how modifier genes, loci elsewhere in the genome that modify CF disease severity, may be used to restore a normal phenotype. Progress in all of these areas has been dramatic, generating enthusiasm that CF may soon become a broadly treatable disease.
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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.