Associated Papers
Precision A3G base editors for disease modeling and correction.
Zeng H et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 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
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
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR et al.
The Lancet. Respiratory Medicine, 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
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.
Hillenaar T et al.
International Journal of Molecular Sciences, 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 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
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.
Chen KG et al.
Drug Discovery Today, 2019
Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis.
Berkers G et al.
Cell Reports, 2019
Pluripotent Stem Cell Platforms for Drug Discovery.
Chen KG et al.
Trends in Molecular Medicine, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Intestinal organoids and personalized medicine in cystic fibrosis: a successful patient-oriented research collaboration.
Noordhoek J et al.
Current Opinion in Pulmonary Medicine, 2016
Individualized medicine using intestinal responses to CFTR potentiators and correctors.
Beekman JM
Pediatric Pulmonology, 2016
Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis.
Dekkers JF et al.
Science Translational Medicine, 2016
Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis.
Sorio C et al.
Plos One, 2011
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V et al.
Human Mutation, 2003
Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
Scotet V et al.
Human Genetics, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
Scotet V et al.
Lancet (london, England), 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
Wu Y et al.
Human Mutation, 1996
A novel mutation (G1249R) in exon 20 of the CFTR gene.
Dijkstra DJ et al.
Human Mutation, 1994