Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 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
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
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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR et al.
The Lancet. Respiratory Medicine, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.
Simmonds NJ et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis.
Bontempo P et al.
Biomedicines, 2024
Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.
Yılmaz Aİ et al.
European Journal of Pediatrics, 2024
Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis.
Thakur S et al.
Cell Biochemistry and Biophysics, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Hypogonadism - when does genetic diagnosis help in therapy?
Jankowska KK et al.
Ginekologia Polska, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Hidden CFSPID in CF patient registries? The Italian CF Registry experience.
Terlizzi V et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
Gradual increase in sweat chloride concentration is associated with a higher risk of CRMS/CFSPID to CF reclassification.
Salinas DB et al.
Pediatric Pulmonology, 2023
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.
Bulegenova M et al.
Indian Pediatrics, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
When CFSPID becomes CF.
Ginsburg D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.
Berke G et al.
Plos One, 2022
Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.
Angyal D et al.
Cells, 2021
Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain.
Kleizen B et al.
Journal of Molecular Biology, 2021
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
Mekki C et al.
Genes, 2021
Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.
Bahia MS et al.
Journal of Chemical Information and Modeling, 2021
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.
Rudnik-Schöneborn S et al.
Human Reproduction (oxford, England), 2021
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan ST et al.
Genes, 2021
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
Association of the CFTR gene with asthma and airway mucus hypersecretion.
Crespo-Lessmann A et al.
Plos One, 2021