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-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.
Cui G et al.
Scientific Reports, 2019
Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.
Wang X et al.
The Journal of General Physiology, 2009
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.
Jarvi K et al.
Fertility and Sterility, 1998
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.
Wilkinson DJ et al.
The Journal of General Physiology, 1996
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