Associated Papers
Structural basis for CFTR inhibition by CFTRinh-172.
Young PG et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
CFTR function, pathology and pharmacology at single-molecule resolution.
Levring J et al.
Nature, 2023
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
Ligand binding to a remote site thermodynamically corrects the F508del mutation in the human cystic fibrosis transmembrane conductance regulator.
Wang C et al.
The Journal of Biological Chemistry, 2018
Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.
Chong PA et al.
The Journal of Biological Chemistry, 2015
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
Poulou M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.
Alexander C et al.
Biochemistry, 2009
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
Tzetis M et al.
Clinical Genetics, 2007
CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.
Serrano JR et al.
Biophysical Journal, 2006
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
McGinniss MJ et al.
Human Genetics, 2005
The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.
Chen EY et al.
The Journal of Biological Chemistry, 2004
Cysteine residues in the nucleotide binding domains regulate the conductance state of CFTR channels.
Harrington MA et al.
Biophysical Journal, 2002