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
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 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
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
Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems.
Tanriverdi S et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis.
Jeppesen LD et al.
Prenatal Diagnosis, 2021
On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.
Yu YC et al.
The Journal of Physiology, 2016
Identification and frequencies of cystic fibrosis mutations in central Argentina.
Pepermans X et al.
Clinical Biochemistry, 2016
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A et al.
European Journal of Human Genetics : Ejhg, 2013
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Lucarelli M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
Enquist K et al.
Journal of Molecular Biology, 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
Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Kerem E
Pediatric Pulmonology, 2005
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
Quint A et al.
American Journal of Medical Genetics. Part A, 2005
Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.
Hämmerle MM et al.
The Journal of Biological Chemistry, 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
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.
Feldmann D et al.
Human Mutation, 1998
CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.
Plouvier E et al.
Annales De Genetique, 1997
A comprehensive CFTR mutation analysis of German cystic fibrosis patients.
Reiss J et al.
Human Molecular Genetics, 1993
[Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells].
Feldmann D et al.
Annales De Biologie Clinique, 0