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
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
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
When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.
Dasgupta S et al.
Cureus, 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
Metabolomic profiling of saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.
Mendiola-Vidal NG et al.
Life (basel, Switzerland), 2024
Impact of the expanded label for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with no F508del variant in the USA.
Cromwell EA et al.
The European Respiratory Journal, 2024
Phenotypic Evaluation of Rare Cystic Fibrosis Transmembrane Conductance Regulator Mutation Combinations in People with Cystic Fibrosis in Queensland, Australia.
Evans IES et al.
Journal of Clinical Medicine, 2024
CFTR complex alleles and phenotypic variability in cystic fibrosis disease.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis.
Ooi CY et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Reply to: Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis.
Melotti P et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
A mathematical model of ENaC and Slc26a6 regulation by CFTR in salivary gland ducts.
Su S et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2024
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
Waheed N et al.
Molecular Biology Reports, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Biesecker LG et al.
American Journal of Human Genetics, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Almaghamsi T et al.
Saudi Medical Journal, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Lipidomic alterations in human saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2023
The burden of cystic fibrosis in North Africa.
El Makhzen N et al.
Frontiers in Genetics, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Trikafta-Extending Its Success to Less Common Mutations.
Bentur L et al.
Journal of Personalized Medicine, 2022
G378X-I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency.
Terlizzi V et al.
Molecular Genetics & Genomic Medicine, 2022
Modulator Therapy in Cystic Fibrosis Patients with cis Variants in F508del Complex Allele: A Short-Term Observational Case Series.
Terlizzi V et al.
Journal of Personalized Medicine, 2022
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
Bianchimani C et al.
International Journal of Neonatal Screening, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022