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
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
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V et al.
International Journal of Molecular Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Petrova G et al.
Molecular Genetics & Genomic Medicine, 2019
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.
Montiel-Gonzalez MF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.
Rechitsky S et al.
Reproductive Biomedicine Online, 2013
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
Wang Z et al.
Human Reproduction (oxford, England), 2002
Mutations that change the position of the putative gamma-phosphate linker in the nucleotide binding domains of CFTR alter channel gating.
Berger AL et al.
The Journal of Biological Chemistry, 2002
ATP hydrolysis-coupled gating of CFTR chloride channels: structure and function.
Zou X et al.
Biochemistry, 2001
Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study.
Angelicheva D et al.
Human Genetics, 1997
Genotypic analysis of respiratory mucous sulfation defects in cystic fibrosis.
Zhang Y et al.
The Journal of Clinical Investigation, 1995
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1994
Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
Angelicheva D et al.
Human Mutation, 1994