Associated Papers
Strategies for the identification of people with cystic fibrosis responsive to CFTR modulator triple combinations.
Burgel PR
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
CFTR correctors potentiate gating mutants causing cystic fibrosis.
Castanier S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
Identified five variants in CFTR gene that alter RNA splicing by minigene assay.
Zhang B et al.
Frontiers in Genetics, 2025
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR et al.
The Lancet. Respiratory Medicine, 2024
Association between CFTR modulators and changes in iron deficiency markers in cystic fibrosis.
Jia S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.
Cuyx S et al.
Thorax, 2024
Real-world impact of ivacaftor in people with cystic fibrosis and select ivacaftor-responsive mutations.
McKinnon C et al.
Bmj Open Respiratory Research, 2024
Recommended Tool Compounds for Modifying the Cystic Fibrosis Transmembrane Conductance Regulator Channel Variants.
Han X et al.
Acs Pharmacology & Translational Science, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR.
Ferreira FC et al.
European Journal of Pharmacology, 2024
Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis.
Bacalhau M et al.
Journal of Personalized Medicine, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
CFTR function, pathology and pharmacology at single-molecule resolution.
Levring J et al.
Nature, 2023
Patient-derived cell models for personalized medicine approaches in cystic fibrosis.
Ramalho AS et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.
Ritivoiu ME et al.
Pharmaceutics, 2023
Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.
Silva IAL et al.
Journal of Personalized Medicine, 2022
Triangulating variation in the population to define mechanisms for precision management of genetic disease.
Wang C et al.
Structure (london, England : 1993), 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.
Ensinck MM et al.
Cells, 2022
CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.
Saluzzo F et al.
Cells, 2022
The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.
McKay IR et al.
Frontiers in Pediatrics, 2022
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 2021
The determinants of survival among adults with cystic fibrosis-a cohort study.
Durda-Masny M et al.
Journal of Physiological Anthropology, 2021
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
CFTR function and clinical response to modulators parallel nasal epithelial organoid swelling.
Anderson JD et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021
Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.
Girón Moreno RM et al.
Antibiotics (basel, Switzerland), 2021
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype.
Terlizzi V et al.
Molecular Genetics & Genomic Medicine, 2021
G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.
Fidler MC et al.
Clinical and Translational Science, 2021