Associated Papers
Native CFTR codon bias controls translation rate to balance off-pathway aggregation and channel function by conformational imprinting.
Yoon JS et al.
Scientific Reports, 2025
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
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
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Thermodynamic Coupling between Folding Correctors and the First of Dimerized Nucleotide Binding Domains in CFTR.
Wang G
Acs Bio & Med Chem Au, 2025
Thermodynamic coupling between folding correctors and the first of dimerized nucleotide binding domains in CFTR.
Wang G
Research Square, 2025
Effects of Point Mutations on the Thermal Stability of the NBD1 Domain of hCFTR.
Lublin L et al.
Journal of Chemical Information and Modeling, 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
Proteostasis landscapes of cystic fibrosis variants reveal drug response vulnerability.
McDonald EF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Proteostasis Landscapes of Cystic Fibrosis Variants Reveals Drug Response Vulnerability.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2025
The clinical effectiveness of elexacaftor/tezacaftor/ivacaftor (ETI) for people with CF without a F508del variant: A systematic review and meta-analysis.
Lupas D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.
Dreano E et al.
The European Respiratory Journal, 2023
Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR.
Bruno SM et al.
Genes, 2023
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 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
The French compassionate programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.
Burgel PR et al.
The European Respiratory Journal, 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
Proteomic profiling of sweat in patients with cystic fibrosis provides new insights into epidermal homoeostasis.
Cornet M et al.
Skin Health and Disease, 2023
ABC-transporter CFTR folds with high fidelity through a modular, stepwise pathway.
Im J et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Triangulating variation in the population to define mechanisms for precision management of genetic disease.
Wang C et al.
Structure (london, England : 1993), 2022
Elexacaftor-Tezacaftor-Ivacaftor as a Final Frontier in the Treatment of Cystic Fibrosis: Definition of the Clinical and Microbiological Implications in a Case-Control Study.
Migliorisi G et al.
Pharmaceuticals (basel, Switzerland), 2022
Nanomechanics combined with HDX reveals allosteric drug binding sites of CFTR NBD1.
Padányi R et al.
Computational and Structural Biotechnology Journal, 2022
Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.
Sette G et al.
The European Respiratory Journal, 2021