Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.
Freyberg 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
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
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
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
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology Journal, 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
Relationship between impaired glucose metabolism and bone mineral density in patients with cystic fibrosis.
Uçar M et al.
European Journal of Pediatrics, 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
Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.
Railean V et al.
Molecular Diagnosis & Therapy, 2026
The European Medicines Agency's review of elexacaftor/tezacaftor/ivacaftor: extending its use to all people with cystic fibrosis aged 2 years and older who do not have two class I CFTR variants.
Drai C et al.
The European Respiratory Journal, 2026
Advances in cystic fibrosis: CFTR modulator triple combinations.
Burgel PR et al.
The European Respiratory Journal, 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
A rare case report of decompensated cirrhosis from hereditary hemochromatosis following lung transplant in a person with cystic fibrosis.
Joo E et al.
Respiratory Medicine Case Reports, 2026
Rethinking CFTR variant responsiveness: Differential responses to vanzacaftor and elexacaftor.
Rodriguez Mier N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
Developing Type II F508del-CFTR correctors with a protective effect against respiratory viruses.
Barbieri F et al.
European Journal of Medicinal Chemistry, 2025
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Antisense oligonucleotide targeting the E3 ligase RFFL potentiates CFTR modulator efficacy in CF primary bronchial epithelial cells.
Hinata D et al.
Molecular Therapy. Nucleic Acids, 2025
Structural and Functional Impacts of SARS-CoV-2 Spike Protein Mutations: Insights From Predictive Modeling and Analytics.
Netsey EK et al.
Jmir Bioinformatics and Biotechnology, 2025
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.
Lo Cicero S et al.
Cells, 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
In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators.
Pesce E et al.
British Journal of Pharmacology, 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
Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants.
Bhuiyan I et al.
Orphanet Journal of Rare Diseases, 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
Improvement of Cystic Fibrosis-Associated Liver Disease in Adults on Long-Term Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators.
Manioudaki S et al.
Life (basel, Switzerland), 2025
In vivo conformational space and defects of misfolded CFTR variants by covalent protein painting.
Pankow S et al.
Nature Communications, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M 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
Sweat chloride and lung function responses to elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with two versus one responsive CFTR variants: an analysis of two real-world observational studies.
Burgel PR et al.
The Lancet. Respiratory Medicine, 2025
Characterization of Egyptian cystic fibrosis children including genotypes and phenotypes: A single tertiary center experience.
Fouda EM et al.
Respiratory Medicine, 2025
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.
Burgel PR et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.
Dasgupta S et al.
Cureus, 2025
Real-Life in Cystic Fibrosis Pediatric Patients Treated With Kaftrio: A Descriptive Observational Study.
García Díaz FJ et al.
Clinical Pediatrics, 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