Associated Papers
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
Comparison of preclinical drug efficacy in nasal and intestinal patient-derived models of cystic fibrosis.
Latorre RV et al.
European Journal of Pharmacology, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Structural and Functional Impacts of SARS-CoV-2 Spike Protein Mutations: Insights From Predictive Modeling and Analytics.
Netsey EK et al.
Jmir Bioinformatics and Biotechnology, 2025
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.
Lo Cicero S et al.
Cells, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 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
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Impact of the expanded label for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with no F508del variant in the USA.
Cromwell EA et al.
The European Respiratory Journal, 2024
Silibinins and curcumin as promising ligands against mutant cystic fibrosis transmembrane regulator protein.
Akram A et al.
Amb Express, 2024
SARS-CoV-2 variant of concern fitness and adaptation in primary human airway epithelia.
Meganck RM et al.
Cell Reports, 2024
Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.
Fevola C et al.
European Journal of Pediatrics, 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
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.
Ward A et al.
Human Mutation, 2024
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.
Davyt M et al.
The Journal of Biological Chemistry, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 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
Additive Potentiation of R334W-CFTR Function by Novel Small Molecules.
Bacalhau M et al.
Journal of Personalized Medicine, 2023
Features of CFTR mRNA and implications for therapeutics development.
Jackson JJ et al.
Frontiers in Genetics, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Triangulating variation in the population to define mechanisms for precision management of genetic disease.
Wang C et al.
Structure (london, England : 1993), 2022
Molecular Dynamics and Theratyping in Airway and Gut Organoids Reveal R352Q-CFTR Conductance Defect.
Wong SL et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
In vitro assessment of triple combination therapy for the most common disease-associated mutation in cystic fibrosis.
Yeh HI et al.
The European Respiratory Journal, 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids.
Silva IAL et al.
Journal of Personalized Medicine, 2021
Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.
Bahia MS et al.
Journal of Chemical Information and Modeling, 2021
Clinical and molecular characterization of the R751L-CFTR mutation.
Haq IJ et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.
Peters KW et al.
Frontiers in Physiology, 2021
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Nappo S et al.
Annals of Human Genetics, 2020
Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
Rispoli T et al.
Molecular Diagnosis & Therapy, 2020