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
Improvement of Cystic Fibrosis-Associated Liver Disease in Adults on Long-Term Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators.
Manioudaki S et al.
Life (basel, Switzerland), 2025
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 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
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 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
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
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.
Ensinck MM et al.
Cells, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Nonsense suppression therapies in human genetic diseases.
Martins-Dias P et al.
Cellular and Molecular Life Sciences : Cmls, 2021
In silico drug repositioning on F508del-CFTR: A proof-of-concept study on the AIFA library.
Orro A et al.
European Journal of Medicinal Chemistry, 2021
Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons.
Melfi R et al.
International Journal of Molecular Sciences, 2020
Gene and Base Editing as a Therapeutic Option for Cystic Fibrosis-Learning from Other Diseases.
Mention K et al.
Genes, 2019
RNA rewriting, recoding, and rewiring in human disease.
Zipeto MA et al.
Trends in Molecular Medicine, 2015
Correcting mutations by RNA repair.
Reenan R
The New England Journal of Medicine, 2014
Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.
Montiel-Gonzalez MF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
Borowitz D et al.
The Journal of Pediatrics, 2009
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
Tzetis M et al.
Human Genetics, 1997
A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient.
Balassopoulou A et al.
Human Molecular Genetics, 1994