Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Genotype-Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study.
Jat KR et al.
Clinical Genetics, 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
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
Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
Paiella S et al.
United European Gastroenterology 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
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
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
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
Cystic fibrosis newborn screening in a high prevalence population - Ten years' experience in Ireland.
McGuire F et al.
Respiratory Medicine, 2026
Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction.
Wright BA et al.
Case Reports in Gastrointestinal Medicine, 2026
Beyond the mutations: spatiotemporal regulation of CFTR by cAMP and calcium signaling in epithelial physiology and cystic fibrosis.
Varga A et al.
Cellular & Molecular Biology Letters, 2025
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Genetic and Epigenetic Risks of Male Infertility in ART.
Zikopoulos A et al.
International Journal of Molecular Sciences, 2025
Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.
Rafique H et al.
Journal of Computer-aided Molecular Design, 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
Gene Editing for Cystic Fibrosis: Advances and Prospects of CRISPR-Cas9 Therapy.
Khurram I et al.
Cell Biology International, 2025
Developing a primer for communicating about penetrance, expressivity, and genotype-phenotype correlation of R117H and the poly-T tract in CFTR.
Raraigh KS et al.
Journal of Genetic Counseling, 2025
Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants.
Bhuiyan I et al.
Orphanet Journal of Rare Diseases, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
Successful Desensitisation With Cystic Fibrosis Transmembrane Conductance Regulator Modulatory Drugs in Delayed Cutaneous Hypersensitivity Reactions.
Kazancioglu A et al.
Journal of Paediatrics and Child Health, 2025
Characterization of Egyptian cystic fibrosis children including genotypes and phenotypes: A single tertiary center experience.
Fouda EM et al.
Respiratory Medicine, 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
Next-Generation Sequencing for Cystic Fibrosis: Florida Newborn Screening Experience.
Green DM et al.
International Journal of Neonatal Screening, 2025
[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
Li Y et al.
Medicine, 2025
Enrichment of Germline Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Pathogenic Variants in Patients With Solid Tumors: Evidence for Increased Cancer Risk.
Shugg T et al.
Pediatric Pulmonology, 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
Evaluating Long-Term Effectiveness of Cystic Fibrosis Modulator Therapies After Rapid Adoption: A Dual-Approach Study.
Afonso PM et al.
Annals of the American Thoracic Society, 2025
Gut Dysbiosis Driven by CFTR Gene Mutations in Cystic Fibrosis Patients: From Genetic Disruption to Multisystem Consequences and Microbiota Modulation.
Pawłowska N et al.
Genes, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
The spectrum of CFTR dysfunction in patients with nontuberculous mycobacterial pulmonary disease.
Lemson A et al.
Respiratory Investigation, 2025
Exploring the role of β2- and β3-adrenergic receptors in cystic fibrosis.
Cannavo A et al.
Pulmonary Pharmacology & Therapeutics, 2025
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 2025
Cystic Fibrosis and Male Infertility: From Genetics to Future Perspectives in Assisted Reproductive Technologies.
Kaltsas A
Genes, 2025
Assessing CFTR Function and Epithelial Morphology in Human Nasal Respiratory Cell Cultures: A Combined Immunofluorescence and Electrophysiological Study.
Singh RN et al.
International Journal of Molecular Sciences, 2025
Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.
Kirk E et al.
Pathology, 2025
The Promising Role of Intestinal Organoids in the Diagnostic Work-Up of Cystic Fibrosis Screen Positive Inconclusive Diagnosis/CFTR-Related Metabolic Syndrome (CFSPID/CRMS).
Rodriguez Mier N et al.
International Journal of Neonatal Screening, 2025