Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency.
Fiduccia I et al.
Molecular Therapy. Nucleic Acids, 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
Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.
Freyberg M et al.
Scientific Reports, 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
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
Comparison of preclinical drug efficacy in nasal and intestinal patient-derived models of cystic fibrosis.
Latorre RV et al.
European Journal of Pharmacology, 2026
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 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
Long-term Outcomes of Pediatric CFSPID: A 15-Year Clinical and Genomic Study Across Newborn Screening Cystic Fibrosis Units.
Morales-Tirado A et al.
Archivos De Bronconeumologia, 2026
Genetic and clinical profile of neonates with meconium ileus: A case series.
Angadi C et al.
Tropical Doctor, 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
Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations.
Liu Z et al.
Journal of Thrombosis and Haemostasis : Jth, 2026
Persistent plasma and RBC fatty acid abnormalities in children and adolescents with cystic fibrosis on highly effective CFTR modulators.
Yuzyuk T 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
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
Improved ventilation inhomogeneity and lower LCI variability under ETI: Retrospective analysis in a pediatric cohort.
Arn-Roth T et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
LUNAR LNP delivery of CFTR mRNA restores channel function and improves mucociliary clearance in ferret cystic fibrosis airways.
Liu X et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Intrauterine Treatment in Two Fetuses Affected by Cystic Fibrosis: To Whom and Since When? Report of Cases.
Martínez Sánchez N et al.
Fetal Diagnosis and Therapy, 2025
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
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
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
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
From past to progress: a retrospective study on CFTR genetic testing in South Africa.
Walters S et al.
Journal of Community Genetics, 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
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 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
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
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 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
When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.
Dasgupta S et al.
Cureus, 2025
Design and Characterization of 4D-710, an Aerosolized Gene Therapy for Cystic Fibrosis Lung Disease.
Calton MA et al.
American Journal of Respiratory Cell and Molecular Biology, 2025
Real-Life in Cystic Fibrosis Pediatric Patients Treated With Kaftrio: A Descriptive Observational Study.
García Díaz FJ et al.
Clinical Pediatrics, 2025