Associated Papers
Identity, functional consequences, and context effects of amino acids inserted during suppression of CFTR nonsense mutations.
Thrasher K et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A
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
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
A conserved WXXE motif is an apical delivery determinant of ABC transporter C subfamily isoforms.
Haque MS et al.
Cell Structure and Function, 2023
Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.
Yeh JT et al.
The Journal of Physiology, 2020
Structural mechanisms of CFTR function and dysfunction.
Hwang TC et al.
The Journal of General Physiology, 2018
29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf
Cytoplasmic pathway followed by chloride ions to enter the CFTR channel pore.
El Hiani Y et al.
Cellular and Molecular Life Sciences : Cmls, 2016
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