Associated Papers
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
41189580 (PubMed )
Supplement: 00007-2025.SUPPLEMENT.pdf
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Novel cystic fibrosis transmembrane conductance regulator variant in a cystic fibrosis patient.
Baeza-Trinidad R et al.
Internal Medicine Journal, 2022
Ivacaftor in Infants Aged 4 to <12 Months with Cystic Fibrosis and a Gating Mutation. Results of a Two-Part Phase 3 Clinical Trial.
Davies JC et al.
American Journal of Respiratory and Critical Care Medicine, 2021
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
Cui G et al.
The Journal of General Physiology, 2014
Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome.
McCormick J et al.
Journal of Clinical Epidemiology, 2006
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
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
Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.
Mall M et al.
British Journal of Pharmacology, 2000
Defective cholinergic Cl(-) secretion and detection of K(+) secretion in rectal biopsies from cystic fibrosis patients.
Mall M et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
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