Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 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
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Cystic Fibrosis: A Journey through Time and Hope.
Trouvé P et al.
International Journal of Molecular Sciences, 2024
Real-world impact of ivacaftor in people with cystic fibrosis and select ivacaftor-responsive mutations.
McKinnon C et al.
Bmj Open Respiratory Research, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?
Uytun S et al.
Pediatric Pulmonology, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Impact of CFTR Modulators on the Impaired Function of Phagocytes in Cystic Fibrosis Lung Disease.
Meoli A et al.
International Journal of Molecular Sciences, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.
Saluzzo F et al.
Cells, 2022
New drugs in cystic fibrosis: what has changed in the last decade?
Roda J et al.
Therapeutic Advances in Chronic Disease, 2022
State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.
Meoli A et al.
Pharmaceuticals (basel, Switzerland), 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype.
McGarry ME et al.
Pediatric Pulmonology, 2021
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 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
Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.
Prins S et al.
The Journal of Biological Chemistry, 2020
Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey.
Çobanoğlu N et al.
Pediatric Pulmonology, 2020
Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Review for the Otolaryngologist.
Lee SE et al.
American Journal of Rhinology & Allergy, 2020
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu T et al.
Genes, 2020
Cystic fibrosis transmembrane conductance receptor modulator therapy in cystic fibrosis, an update.
Egan ME
Current Opinion in Pediatrics, 2020
Cystic fibrosis precision therapeutics: Emerging considerations.
Joshi D et al.
Pediatric Pulmonology, 2019
VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.
Cui G et al.
Scientific Reports, 2019
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Pereira SV et al.
Scientific Reports, 2019
Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry.
Salvatore D et al.
Pediatric Pulmonology, 2019
Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.
Pranke I et al.
Frontiers in Pharmacology, 2019
CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.
Lopes-Pacheco M
Frontiers in Pharmacology, 2019
ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.
López-Fernández LA
Journal of Personalized Medicine, 2018
Emerging pharmacotherapies in cystic fibrosis.
McElvaney OJ et al.
Expert Review of Respiratory Medicine, 2018
Tezacaftor for the treatment of cystic fibrosis.
Sala MA et al.
Expert Review of Respiratory Medicine, 2018
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.
de Souza DAS et al.
Andrology, 2018
Germline genetic variants with implications for disease risk and therapeutic outcomes.
Pasternak AL et al.
Physiological Genomics, 2017
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.
Veit G et al.
Molecular Biology of the Cell, 2016
An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.
Wang W et al.
The Journal of Biological Chemistry, 2014
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
Van Goor F et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2014
Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.
Serohijos AW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
Cheung JC et al.
Biochemistry, 2008
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001