Associated Papers
L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?
Kondratyeva E et al.
International Journal of Molecular Sciences, 2025
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
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 2025
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 2025
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 2025
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 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
Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.
Chandane P et al.
Lung India : Official Organ of Indian Chest Society, 2025
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls.
Kroes S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 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
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Hall B et al.
Archives of Pathology & Laboratory Medicine, 2024
Real-Life Experience with CFTR Modulators Shows Correction of LAD-IV Phenotype in Cystic Fibrosis.
Montresor A et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.
Sorrentino U et al.
Genes, 2024
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians.
Terlizzi V et al.
Current Problems in Pediatric and Adolescent Health Care, 2024
Functional rescue of CFTR in rectal organoids from patients carrying R334W variant by CFTR modulators and PDE4 inhibitor Roflumilast.
Latorre RV et al.
Respiratory Investigation, 2024
Calcitonin Gene-Related Peptide Level in Cystic Fibrosis Patients.
Galiniak S et al.
Life (basel, Switzerland), 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Improved Nutritional Outcomes and Gastrointestinal Symptoms in Adult Cystic Fibrosis Patients Treated with Elexacaftor/Tezacaftor/Ivacaftor.
Stastna N et al.
Digestive Diseases (basel, Switzerland), 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
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
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.
Huang L et al.
Pediatric Pulmonology, 2023
Changes in fecal elastase-1 following initiation of CFTR modulator therapy in pediatric patients with cystic fibrosis.
Stephenson KG et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Expression of gain-of-function CFTR in cystic fibrosis airway cells restores epithelial function better than wild-type or codon-optimized CFTR.
Woodall M et al.
Molecular Therapy. Methods & Clinical Development, 2023
Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators.
Capraro M et al.
International Journal of Molecular Sciences, 2023
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
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
Pharmacologic improvement of CFTR function rapidly decreases sputum pathogen density, but lung infections generally persist.
Nichols DP et al.
The Journal of Clinical Investigation, 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
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Kondratyeva E et al.
International Journal of Molecular Sciences, 2023
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Rock MJ et al.
Pediatric Pulmonology, 2023
SARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation.
Bezzerri V et al.
Nature Communications, 2023
Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy.
Stanke F et al.
Frontiers in Pharmacology, 2023