Associated Papers
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
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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 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
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.
Fustik S et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Petrova G et al.
Molecular Genetics & Genomic Medicine, 2019
Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.
Terzic M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Splicing modulation as a modifier of the CFTR function.
Nissim-Rafinia M et al.
Progress in Molecular and Subcellular Biology, 2006
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Eudes R et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
Pagani F et al.
The Journal of Biological Chemistry, 2003
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
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Morral N et al.
Human Mutation, 1996
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Pignatti PF et al.
Human Molecular Genetics, 1995
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Dörk T et al.
Human Genetics, 1994
Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
Dörk T et al.
Human Genetics, 1994