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
Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.
Jat KR et al.
Clinical Genetics, 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
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
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
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
Precision A3G base editors for disease modeling and correction.
Zeng H et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
Intestinal organoids as a platform for functional evaluation of ASO-mediated splicing modulation in cystic fibrosis.
Stanleigh N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2026
Barriers to the Pharmacologic Rescue of W1282X CFTR.
Manfredi C et al.
Biochemistry, 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
Trikafta restores thermodynamic coupling between two nucleotide binding domains for potentiating CFTR activity.
Wang G
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026
CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs).
Perriera R et al.
Genetics in Medicine Open, 2026
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
Rescue of the CFTR chloride channel with nonsense mutations is markedly improved under inflammatory conditions.
Borrelli A et al.
The European Respiratory Journal, 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
Restoring chloride efflux in cystic fibrosis with TMEM16a antisense oligonucleotides.
Mitri C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.
Lo Cicero S et al.
Cells, 2025
Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.
Schadwell A et al.
Human Reproduction (oxford, England), 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
Maximising opportunity for therapeutic success: sequential participation in cystic fibrosis nucleic acid-based therapy trials.
Mayer-Hamblett N et al.
The Lancet. Respiratory Medicine, 2025
Gene Editing for Cystic Fibrosis: Advances and Prospects of CRISPR-Cas9 Therapy.
Khurram I et al.
Cell Biology International, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
Role of S1PR1 in Modulating Airway Epithelial Responses to Pseudomonas aeruginosa in Cystic Fibrosis.
Cigana C et al.
Pathogens (basel, Switzerland), 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
Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosis.
Kavanagh EW et al.
Biorxiv : the Preprint Server for Biology, 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
Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.
Zhu Y et al.
Stem Cell Reviews and Reports, 2025
Characterization of Egyptian cystic fibrosis children including genotypes and phenotypes: A single tertiary center experience.
Fouda EM et al.
Respiratory Medicine, 2025
When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.
Dasgupta S et al.
Cureus, 2025
Mitochondrial Fragmentation Induced by the CFTR Modulators Lumacaftor and Ivacaftor in Immortalized Cystic Fibrosis Cell Lines.
Dib C et al.
Cells, 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
Case Series on the Combined Therapy with Elexacaftor/Tezacaftor/Ivacaftor During Pregnancy in Women with Severe Cystic Fibrosis: A Retrospective Report from an Italian Centre.
Iacotucci P et al.
Journal of Clinical Medicine, 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