Associated Papers
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.
Yılmaz Aİ et al.
European Journal of Pediatrics, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 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
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Cystic fibrosis newborn screening: the importance of bloodspot sample quality.
Doull I et al.
Archives of Disease in Childhood, 2021
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Nappo S et al.
Annals of Human Genetics, 2020
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST et al.
Jci Insight, 2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Raraigh KS et al.
American Journal of Human Genetics, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Relative contribution of different transmembrane segments to the CFTR chloride channel pore.
Wang W et al.
Pflugers Archiv : European Journal of Physiology, 2014
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
Křenková P et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013
Clinical and molecular characterization of S1118F-CFTR.
Penmatsa H et al.
Pediatric Pulmonology, 2009
Novel residues lining the CFTR chloride channel pore identified by functional modification of introduced cysteines.
Fatehi M et al.
The Journal of Membrane Biology, 2009
Asymmetric structure of the cystic fibrosis transmembrane conductance regulator chloride channel pore suggested by mutagenesis of the twelfth transmembrane region.
Gupta J et al.
Biochemistry, 2001
Perturbation of the pore of the cystic fibrosis transmembrane conductance regulator (CFTR) inhibits its atpase activity.
Kogan I et al.
The Journal of Biological Chemistry, 2001
Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.
Linsdell P
The Journal of Physiology, 2001
Interaction between permeation and gating in a putative pore domain mutant in the cystic fibrosis transmembrane conductance regulator.
Zhang ZR et al.
Biophysical Journal, 2000