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
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
Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators.
Tümmler B et al.
Molecular and Cellular Pediatrics, 2025
Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls.
Kroes S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
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
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
Structure-based discovery of CFTR potentiators and inhibitors.
Liu F et al.
Cell, 2024
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM et al.
Pediatric Pulmonology, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Structure-based discovery of CFTR potentiators and inhibitors.
Liu F et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Organoid-guided synergistic treatment of minimal function CFTR mutations with CFTR modulators, roflumilast and simvastatin: a personalised approach.
Spelier S et al.
The European Respiratory Journal, 2024
Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.
Li H et al.
The Journal of Physiology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.
Lefferts JW et al.
International Journal of Molecular Sciences, 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 function, pathology and pharmacology at single-molecule resolution.
Levring J et al.
Nature, 2023
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Declercq M et al.
The European Respiratory Journal, 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
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair G et al.
International Journal of Neonatal Screening, 2020
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
What Role Does CFTR Play in Development, Differentiation, Regeneration and Cancer?
Amaral MD et al.
International Journal of Molecular Sciences, 2020
CFTR: New insights into structure and function and implications for modulation by small molecules.
Kleizen B et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2020
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
Kinting S et al.
Journal of Cellular and Molecular Medicine, 2019
Molecular structure of the ATP-bound, phosphorylated human CFTR.
Zhang Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.
Wang C et al.
Cell Reports, 2018
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST et al.
Jci Insight, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Atomic Structure of the Cystic Fibrosis Transmembrane Conductance Regulator.
Zhang Z et al.
Cell, 2016
Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis.
Dekkers JF et al.
Science Translational Medicine, 2016