Associated Papers
Relationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis.
Uçar M et al.
European Journal of Pediatrics, 2026
Strategies for the identification of people with cystic fibrosis responsive to CFTR modulator triple combinations.
Burgel PR
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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
Current Status of Cystic Fibrosis in Türkiye: Data from the National Registry.
Ademhan Tural D et al.
Thoracic Research and Practice, 2025
The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity.
Osadchuk L et al.
International Journal of Molecular Sciences, 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
Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.
Akgül Erdal M et al.
The Turkish Journal of Pediatrics, 2025
Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.
Baroni D
Current Issues in Molecular Biology, 2025
Newborn Screening Program for Cystic Fibrosis in Türkiye: Experiences from False-Negative Tests and Requirement for Optimization
Çoksüer F et al.
Balkan Medical Journal, 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
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study.
Emiralioğlu N et al.
Pediatric Pulmonology, 2024
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR et al.
The Lancet. Respiratory Medicine, 2024
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 2024
Impact of elexacaftor/tezacaftor/ivacaftor therapy on lung clearance index and magnetic resonance imaging in children with cystic fibrosis and one or two F508del alleles.
Stahl M et al.
The European Respiratory Journal, 2024
Targeting ubiquitination machinery in cystic fibrosis: Where do we stand?
Okiyoneda T et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Recommended Tool Compounds for Modifying the Cystic Fibrosis Transmembrane Conductance Regulator Channel Variants.
Han X et al.
Acs Pharmacology & Translational Science, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Organic Synthesis and Current Understanding of the Mechanisms of CFTR Modulator Drugs Ivacaftor, Tezacaftor, and Elexacaftor.
Ferreira FC et al.
Molecules (basel, Switzerland), 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
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
Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
Glotov AS et al.
Genes, 2023
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
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
CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.
Lefferts JW et al.
International Journal of Molecular Sciences, 2023
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes.
de Poel E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023