ArticleCold Spring Harbor perspectives in medicine2012
Assessing the Disease-Liability of Mutations in CFTR.
Article in Cold Spring Harbor perspectives in medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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
49 citing papers in PubMed, 104 citations in OpenAlex.
- Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.Scientific reports · 2026Article
- Navigating the landscape of protein folding and proteostasis: from molecular chaperones to therapeutic innovations.Signal transduction and targeted therapy · 2025Review
- Human induced pluripotent stem cells for in vitro modeling of impaired mucociliary clearance in cystic fibrosis lung disease.Stem cell research & therapy · 2025Article
- Evaluating the Diagnostic Potential of the FIB-4 Index for Cystic Fibrosis-Associated Liver Disease in Adults: A Comparison with Transient Elastography.Journal of clinical medicine · 2025Article
- Cystic Fibrosis: A Journey through Time and Hope.International journal of molecular sciences · 2024Review
- [Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Recommended Tool Compounds for Modifying the Cystic Fibrosis Transmembrane Conductance Regulator Channel Variants.ACS pharmacology & translational science · 2024Review
- Pro-inflammatory cytokines stimulate CFTR-dependent anion secretion in pancreatic ductal epithelium.Cellular & molecular biology letters · 2024Article
- Neurogastroenterology and Motility Disorders of the Gastrointestinal Tract in Cystic Fibrosis.Current gastroenterology reports · 2024Review
- RNA binding proteins PTBP1 and HNRNPL regulateHeliyon · 2023Article
- Clinical and genetic features of cystic fibrosis in Japan.Journal of human genetics · 2023Article
- In host evolution of Exophiala dermatitidis in cystic fibrosis lung micro-environment.G3 (Bethesda, Md.) · 2023Article
- Trends in the Epidemiology ofJournal of fungi (Basel, Switzerland) · 2023Review
- Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.International journal of molecular sciences · 2023Article
- Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.Bioscience reports · 2022Review
- Exon-skipping antisense oligonucleotides for cystic fibrosis therapy.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Gene therapy for cystic fibrosis: Challenges and prospects.Frontiers in pharmacology · 2022Review
- 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
- A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.Nature communications · 2021Article
- CFTR function and clinical response to modulators parallel nasal epithelial organoid swelling.American journal of physiology. Lung cellular and molecular physiology · 2021Article
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 2 countries.
Funding
Abstract
Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have been discovered primarily in individuals who have features consistent with the diagnosis of CF. In some cases, it has been recognized that the mutations are not causative of cystic fibrosis but are responsible for disorders with features similar to CF, and these conditions have been termed CFTR-related disorders or CFTR-RD. There are also mutations in CFTR that do not contribute to any known disease state. Distinguishing CFTR mutations according to their penetrance for an abnormal phenotype is important for clinical management, structure/function analysis of CFTR, and understanding the molecular and cellular mechanisms underlying CF.
Indexed as
Identifiers
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.