Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 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
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info
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
39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677473 (PubMed )
Supplement: media-1.xlsx › ST3
Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations.
Bharti N et al.
Nature Communications, 2024
38580646 (PubMed )
Supplement: 41467_2024_47258_MOESM1_ESM.pdf
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_S1B
Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators.
Tomati V et al.
Frontiers in Pharmacology, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Yiallouros PK et al.
Orphanet Journal of Rare Diseases, 2021
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
Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.
Terzic M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
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