Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Upregulation of a CFTR mRNA isoform has therapeutic potential for the treatment of 3' CFTR PTC variants.
Allaire NE et al.
Molecular Therapy. Nucleic Acids, 2026
Clinical, functional and therapeutic evaluation of CFTR variant I507del.
Sharma N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Restoration of Defective CFTR in Human Nasal Respiratory Epithelial Cells by CFTR Modulators and mRNA Transfection.
Singh RN et al.
International Journal of Molecular Sciences, 2026
RFFL-mediated protein quality control limits functional rescue of TRID-CFTR modulator combination therapy for cystic fibrosis nonsense mutations.
Tateishi H et al.
Cellular and Molecular Life Sciences : Cmls, 2026
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.
Chowdhury MR et al.
Gene, 2026
Identity, functional consequences, and context effects of amino acids inserted during suppression of CFTR nonsense mutations.
Thrasher K et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Correcting CFTR mRNA splicing defects with the plant cytokine kinetin and its analogues.
Rimoldi V et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Ligase-mediated programmable genomic integration (L-PGI).
Nan AX et al.
Nature Communications, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 2025
Gene Editing for Cystic Fibrosis: Advances and Prospects of CRISPR-Cas9 Therapy.
Khurram I et al.
Cell Biology International, 2025
Theratyping as a tool to guide clinical decision-making in patients with suspected cystic fibrosis and variants currently ineligible for CFTR modulator therapy.
Gannon RM et al.
Respiratory Medicine, 2025
Role of the ADAM33 rs2280091 Variant in Modulating Lung Function in Cystic Fibrosis.
Dos Santos VS et al.
International Journal of Molecular Sciences, 2025
PRenatal mOdulator treatment to PrEvent CF complicaTions (PROTECT) workshop report.
Szentpetery S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Characterization of Egyptian cystic fibrosis children including genotypes and phenotypes: A single tertiary center experience.
Fouda EM et al.
Respiratory Medicine, 2025
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 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
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
CRISPR for cystic fibrosis: Advances and insights from a systematic review.
Nicosia L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Evidence for altered immune-structural cell crosstalk in cystic fibrosis revealed by single cell transcriptomics.
Berg M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough.
Miao KL et al.
Cells, 2025
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 2025
ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis.
Ko W et al.
Nucleic Acids Research, 2025
Risk of Pancreatic Cancer in Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator Germline Variants: A Retrospective Cohort Study.
Patel NJ et al.
Clinical and Translational Gastroenterology, 2025
Systemic in utero gene editing as a treatment for cystic fibrosis.
Ricciardi AS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
Vitale E et al.
Iubmb Life, 2025
The significant impact of meconium ileus on clinical outcomes among Brazilian individuals with cystic fibrosis-a retrospective analysis of a patient registry.
da Silva-Filho LVRF et al.
Lancet Regional Health. Americas, 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
Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators.
Tümmler B et al.
Molecular and Cellular Pediatrics, 2025
Deleterious effect of Pseudomonas aeruginosa on F508del-CFTR rescued by elexacaftor/tezacaftor/ivacaftor is clinical strain-dependent in patient-derived nasal cells.
Allegretta C et al.
Erj Open Research, 2025
Adenine base editing of CFTR using receptor targeted nanoparticles restores function to G542X cystic fibrosis airway epithelial cells.
Rose I et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Cystic fibrosis therapy: from symptoms to the cause of the disease.
Kireeva TN et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Adenine base editing with engineered virus-like particles rescues the CFTR mutation G542X in patient-derived intestinal organoids.
Nicosia L et al.
Iscience, 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
Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases.
Bhat SY et al.
Nucleic Acids Research, 2025