Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 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
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.
Fustik S et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Structural mechanisms of CFTR function and dysfunction.
Hwang TC et al.
The Journal of General Physiology, 2018
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
A short segment of the R domain of cystic fibrosis transmembrane conductance regulator contains channel stimulatory and inhibitory activities that are separable by sequence modification.
Xie J et al.
The Journal of Biological Chemistry, 2002
Biochemical implications of sequence comparisons of the cystic fibrosis transmembrane conductance regulator.
Tan AL et al.
Archives of Biochemistry and Biophysics, 2002
Stimulatory and Inhibitory Functions of the R Domain on CFTR Chloride Channel.
Ma J
News in Physiological Sciences : an International Journal of Physiology Produced Jointly by the International Union of Physiological Sciences and the American Physiological Society, 2000
Phosphorylation site independent single R-domain mutations affect CFTR channel activity.
Wei L et al.
Febs Letters, 1998
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A et al.
Human Molecular Genetics, 1998
Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.
Mercier B et al.
Human Mutation, 1993