Associated Papers
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
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
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health 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
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 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
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
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
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
Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.
Girón Moreno RM et al.
Antibiotics (basel, Switzerland), 2021
F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients.
Zhang X et al.
Life (basel, Switzerland), 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
Role of Protein Kinase A-Mediated Phosphorylation in CFTR Channel Activity Regulation.
Della Sala A et al.
Frontiers in Physiology, 2021
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
Tezacaftor and ivacaftor for the treatment of cystic fibrosis.
Paterson SL et al.
Expert Review of Respiratory Medicine, 2020
Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.
Phuan PW et al.
Scientific Reports, 2019
Cystic fibrosis precision therapeutics: Emerging considerations.
Joshi D et al.
Pediatric Pulmonology, 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
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N et al.
Human Mutation, 2018
Strategies for the etiological therapy of cystic fibrosis.
Maiuri L et al.
Cell Death and Differentiation, 2017
Germline genetic variants with implications for disease risk and therapeutic outcomes.
Pasternak AL et al.
Physiological Genomics, 2017