Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 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
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
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
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Cystic Fibrosis: A Journey through Time and Hope.
Trouvé P et al.
International Journal of Molecular Sciences, 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
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 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
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
Advances in the Cystic Fibrosis Drug Development Pipeline.
Esposito C et al.
Life (basel, Switzerland), 2023
CFTR function, pathology and pharmacology at single-molecule resolution.
Levring J et al.
Nature, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Rate of Lung Function Decline in People with Cystic Fibrosis Having a Residual Function Gene Mutation.
Sawicki GS et al.
Pulmonary Therapy, 2022
Impact of CFTR Modulators on the Impaired Function of Phagocytes in Cystic Fibrosis Lung Disease.
Meoli A et al.
International Journal of Molecular Sciences, 2022
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 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
CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.
Saluzzo F et al.
Cells, 2022
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
New drugs in cystic fibrosis: what has changed in the last decade?
Roda J et al.
Therapeutic Advances in Chronic Disease, 2022
Translational Research in Cystic Fibrosis: From Bench to Beside.
Garcia LCE et al.
Frontiers in Pediatrics, 2022
Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR.
Baatallah N et al.
Cellular and Molecular Life Sciences : Cmls, 2021
An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK et al.
Iscience, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.
Meoli A et al.
Pharmaceuticals (basel, Switzerland), 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype.
McGarry ME et al.
Pediatric Pulmonology, 2021
Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.
Girón Moreno RM et al.
Antibiotics (basel, Switzerland), 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.
Prins S et al.
The Journal of Biological Chemistry, 2020