Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Insilico analysis of the pathogenic deletion mutations (CFTR-F508del) associated with cystic fibrosis disease.
Kamel MD
Computational Biology and Chemistry, 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
Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.
Jat KR et al.
Clinical Genetics, 2026
Reconstitution of CFTR ubiquitination identifies lysine-420 as a regulator of cell surface residence and current.
Goeckeler-Fried JL et al.
Biochemistry and Biophysics Reports, 2026
Challenges and Practical Solutions in the Management of Cystic Fibrosis in Resource-Limited Countries: The Indian Experience.
Paul GR et al.
Pediatric Pulmonology, 2026
Cystic fibrosis-related diabetes is associated with reduced airway microbial diversity.
Diemer S et al.
Respiratory Research, 2026
Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR-F508del Rabbit Model.
Cho DY et al.
International Forum of Allergy & Rhinology, 2026
Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.
Freyberg M et al.
Scientific Reports, 2026
Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
Banet M et al.
Scientific Reports, 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
A therapeutic revolution: CFTR modulators in cystic fibrosis and their impacts on pregnant women and the fetus.
Denef M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2026
Therapeutic hopes for CFTR-related recurrent pancreatitis: a case-series.
Gohy S 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
Translating Emerging Data for Fetal Treatment of Cystic Fibrosis.
Zaretsky MV et al.
Prenatal Diagnosis, 2026
Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to care.
Ratner L et al.
Bmj Open, 2026
Semi-automated genomic newborn screening highlights complexities in reporting.
Chowdhury A et al.
Npj Genomic Medicine, 2026
Prime Editing Driven Functional Genomics: Bridging Genotype to Phenotype in the Post-Genomic Era.
Begum SN et al.
International Journal of Molecular Sciences, 2026
Harnessing induced pluripotent stem cells and organoids for disease modeling and precision medicine.
Lee CJ et al.
Stem Cell Research & Therapy, 2026
Current drug hypersensitivity challenges facing patients with cystic fibrosis.
Gardner J et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis.
Thee S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population.
Nagao G et al.
Bmj Open Respiratory Research, 2026
Chronic and acute modulator treatment restore wild-type-like activity and stability to the primary cystic fibrosis-causing CFTR variant.
Rodrat M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2026
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
Sequence Engineering at Non-motif Modulator Residues Yields a Peptide That Effectively Targets a Single PDZ Protein in a Disease-relevant Cellular Context.
Amacher JF et al.
Journal of Molecular Biology, 2026
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.
Nussstein H et al.
The European Respiratory Journal, 2026
Beyond CFTR: Ivacaftor's role in restoring cellular redox balance and preventing ferroptosis.
Rubin M et al.
Redox Biology, 2026
Distinct Roles of SLC26A3 and CFTR in Surface pH Regulation and Bicarbonate Secretion in Human Intestinal Epithelium.
Amiri M et al.
Acta Physiologica (oxford, England), 2026
Variable Response to Elexacaftor/Tezacaftor/Ivacaftor in [L467F;F508del] Homozygous Patients: A Case Series.
Akgül Erdal M et al.
Pediatric Pulmonology, 2026
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 2026
Beyond Genotype: Tomographic Improvement With Elexacaftor Tezacaftor Ivacaftor in Non-F508del Cystic Fibrosis.
Cohen RWF et al.
Pediatric Pulmonology, 2026
Elexacaftor/Tezacaftor/Ivacaftor Therapy in a Child With Cystic Fibrosis and Type 1 Spinal Muscular Atrophy.
Castaldo A et al.
Pediatric Pulmonology, 2026
CFTR modulators partially restore the epithelial interferome in Aspergillus infection to improve clinical outcome.
Laverty SL et al.
Ebiomedicine, 2026
Comparison of preclinical drug efficacy in nasal and intestinal patient-derived models of cystic fibrosis.
Latorre RV et al.
European Journal of Pharmacology, 2026
Cystic Fibrosis: A Disease with a New Face.
Wang J et al.
Life (basel, Switzerland), 2026
Author's Reply to Yang and Wang: "Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models".
Amaral MD et al.
Molecular Diagnosis & Therapy, 2026
Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.
Butler MG
International Journal of Molecular Sciences, 2026
Cystic Fibrosis of the Pancreas: In Vitro Duct Models for CFTR-Targeted Translational Research.
Ludovico A et al.
International Journal of Molecular Sciences, 2026
Long-term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real-world cohort study.
Perrotta N et al.
British Journal of Clinical Pharmacology, 2026
CFTR modulators reduce acute pancreatitis episodes in individuals with CFTR-related disorders: A case series.
Ramsey ML et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Elexacaftor/Tezacaftor/Ivacaftor for Cystic Fibrosis and Rare CFTR Variants: In Vitro Translation to a Phase 3, Double-Blind, Randomized, Placebo-controlled Trial and Real-World Study.
Castellani C et al.
American Journal of Respiratory and Critical Care Medicine, 2026
A descriptive study of patients diagnosed with cystic fibrosis or a CF-related disorder in adulthood.
Kennedy C et al.
Clinical Medicine (london, England), 2026
Relationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis.
Uçar M et al.
European Journal of Pediatrics, 2026