Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.
Rafique H et al.
Journal of Computer-aided Molecular Design, 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
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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 therapy: from symptoms to the cause of the disease.
Kireeva TN et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Discovery and Development of CFTR Modulators for the Treatment of Cystic Fibrosis.
Wang X et al.
Journal of Medicinal Chemistry, 2025
Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.
Baroni D
Current Issues in Molecular Biology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 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
Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation.
Castanier S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Impact of age at ivacaftor initiation on pulmonary outcomes among people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Cystic Fibrosis: A Journey through Time and Hope.
Trouvé P et al.
International Journal of Molecular Sciences, 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
Real-world impact of ivacaftor in people with cystic fibrosis and select ivacaftor-responsive mutations.
McKinnon C et al.
Bmj Open Respiratory Research, 2024
Cystic Fibrosis: Understanding Cystic Fibrosis Transmembrane Regulator Mutation Classification and Modulator Therapies.
Anwar S et al.
Advances in Respiratory Medicine, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Recommended Tool Compounds for Modifying the Cystic Fibrosis Transmembrane Conductance Regulator Channel Variants.
Han X et al.
Acs Pharmacology & Translational Science, 2024
Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.
Anton-Păduraru DT et al.
Diagnostics (basel, Switzerland), 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome 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
Diagnosis and treatment of cystic fibrosis in India: What is at stake for developing countries?
Purushothaman AK et al.
Journal of Biosciences, 2024
The impact of SARS-CoV-2 infection in patients with cystic fibrosis undergoing CFTR channel modulators treatment: a literature review.
Vitiello A et al.
Respiratory Research, 2023
Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?
Uytun S et al.
Pediatric Pulmonology, 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
General trends in the effects of VX-661 and VX-445 on the plasma membrane expression of clinical CFTR variants.
McKee AG et al.
Cell Chemical Biology, 2023
CFTR Modulators: Current Status and Evolving Knowledge.
Regard L et al.
Seminars in Respiratory and Critical Care Medicine, 2023
Role of inhaled antibiotics in the era of highly effective CFTR modulators.
Elborn JS et al.
European Respiratory Review : an Official Journal of the European Respiratory 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
Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives.
Kim YJ et al.
Molecules and Cells, 2023