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
Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.
Yiallouros PK et al.
Orphanet Journal of Rare Diseases, 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
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
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
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
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Yiallouros PK et al.
Orphanet Journal of Rare Diseases, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.
Molinario R et al.
Case Reports in Genetics, 2015
Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?
Hentschel J et al.
European Journal of Pediatrics, 2012
Prerenal azotemia from excessive sweating in an adult with a cystic fibrosis gene mutation.
Tomov SV et al.
Indian Journal of Nephrology, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
Enquist K et al.
Journal of Molecular Biology, 2009
Cooperative assembly and misfolding of CFTR domains in vivo.
Du K et al.
Molecular Biology of the Cell, 2009
Atypical cystic fibrosis and CFTR-related diseases.
Paranjape SM et al.
Clinical Reviews in Allergy & Immunology, 2008
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
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
Cheung JC et al.
Biochemistry, 2008
Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.
Yiallouros PK et al.
Clinical Genetics, 2007
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Destabilization of the transmembrane domain induces misfolding in a phenotypic mutant of cystic fibrosis transmembrane conductance regulator.
Choi MY et al.
The Journal of Biological Chemistry, 2005
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
D'Apice MR et al.
Prenatal Diagnosis, 2004
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
European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations.
Koch C et al.
Pediatric Pulmonology, 2001
Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.
Egoshi KI et al.
Kidney International, 2000
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Dörk T et al.
Human Genetics, 1997
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
Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.
Deltas CC et al.
Molecular and Cellular Probes, 1996
Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Boteva K et al.
Human Genetics, 1994