Associated Papers
Precision A3G base editors for disease modeling and correction.
Zeng H et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 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
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
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
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis-associated variants in the Severe Asthma Research Program.
Izquierdo ME et al.
Pediatric Pulmonology, 2022
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
Cheung JC et al.
Biochemistry, 2008
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
Stanke F et al.
Journal of Medical Genetics, 2008
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
Loo TW et al.
The Biochemical Journal, 2006
Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome.
McCormick J et al.
Journal of Clinical Epidemiology, 2006
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.
Seibert FS et al.
The Journal of Biological Chemistry, 1996
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Morral N et al.
Human Mutation, 1996
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene.
Mickle J et al.
Human Reproduction (oxford, England), 1995
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J et al.
Human Mutation, 1995
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N et al.
American Journal of Human Genetics, 1994
Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.
Hull J et al.
Human Molecular Genetics, 1994
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
Shackleton S et al.
Human Mutation, 1994