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
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
The clinical effectiveness of elexacaftor/tezacaftor/ivacaftor (ETI) for people with CF without a F508del variant: A systematic review and meta-analysis.
Lupas D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
Clinical and genetic features of cystic fibrosis in Japan.
Kozawa Y et al.
Journal of Human Genetics, 2023
Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.
Dreano E et al.
The European Respiratory Journal, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The French compassionate programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.
Burgel PR et al.
The European Respiratory Journal, 2023
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.
Prins S et al.
The Journal of Biological Chemistry, 2020
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Corrector VX-809 promotes interactions between cytoplasmic loop one and the first nucleotide-binding domain of CFTR.
Loo TW et al.
Biochemical Pharmacology, 2017
The role for neutrophil extracellular traps in cystic fibrosis autoimmunity.
Skopelja S et al.
Jci Insight, 2016
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.
Veit G et al.
Molecular Biology of the Cell, 2016
The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.
Loo TW et al.
Biochemical Pharmacology, 2014
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
Van Goor F et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2014
Corrector VX-809 stabilizes the first transmembrane domain of CFTR.
Loo TW et al.
Biochemical Pharmacology, 2013
Corrector-mediated rescue of misprocessed CFTR mutants can be reduced by the P-glycoprotein drug pump.
Loo TW et al.
Biochemical Pharmacology, 2012
Benzbromarone stabilizes ΔF508 CFTR at the cell surface.
Loo TW et al.
Biochemistry, 2011
Repair of CFTR folding defects with correctors that function as pharmacological chaperones.
Loo TW et al.
Methods in Molecular Biology (clifton, N.j.), 2011
Identification of a novel water-soluble activator of wild-type and F508del CFTR: GPact-11a.
Bertrand J et al.
The European Respiratory Journal, 2010
A truncated CFTR protein rescues endogenous DeltaF508-CFTR and corrects chloride transport in mice.
Cormet-Boyaka E et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
Izumikawa K et al.
Internal Medicine (tokyo, Japan), 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
Additive effect of multiple pharmacological chaperones on maturation of CFTR processing mutants.
Wang Y et al.
The Biochemical Journal, 2007
Specific rescue of cystic fibrosis transmembrane conductance regulator processing mutants using pharmacological chaperones.
Wang Y et al.
Molecular Pharmacology, 2006
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
Loo TW et al.
The Biochemical Journal, 2006
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
Ngukam A et al.
Journal of Tropical Pediatrics, 2004
Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.
Cormet-Boyaka E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
Fujiki K et al.
Journal of Medical Genetics, 2004
A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.
Naruse S et al.
Pancreas, 2004
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Wong LJ et al.
American Journal of Medical Genetics. Part A, 2003
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
Alper OM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Salvatore F et al.
American Journal of Medical Genetics, 2002
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 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