Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 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
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 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
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
Impact of the expanded label for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with no F508del variant in the USA.
Cromwell EA et al.
The European Respiratory Journal, 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
Exploring the Mechanism of Activation of CFTR by Curcuminoids: An Ensemble Docking Study.
Bellacchio E
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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
The proteostatic network chaperome is downregulated in F508del homozygote cystic fibrosis.
Sala MA et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.
Chen KG et al.
Drug Discovery Today, 2019
Atomic Structure of the Cystic Fibrosis Transmembrane Conductance Regulator.
Zhang Z et al.
Cell, 2016
Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.
Mornon JP et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
He L et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
Cheung JC et al.
Biochemistry, 2008
ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
Viel M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
Pérez MM et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
Loo TW et al.
The Biochemical Journal, 2006
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
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
Alper OM et al.
Human Mutation, 2004
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
Wong LJ et al.
Electrophoresis, 2004
Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
Hubert D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 2002
Complete screening of the CFTR gene in Argentine cystic fibrosis patients.
Visich A et al.
Clinical 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
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