Associated Papers
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
Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids.
Krasnova M et al.
Journal of Personalized Medicine, 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
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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Baldassarri M et al.
Cells, 2022
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 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
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
Petrova NV et al.
Bmc Genomics, 2022
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
Sondo E et al.
International Journal of Molecular Sciences, 2022
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
Baldassarri M et al.
Journal of Personalized Medicine, 2021
The true panel of cystic fibrosis mutations in the Sicilian population.
Chamayou S et al.
Bmc Medical Genetics, 2020
Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?
Terlizzi V et al.
Pediatric Pulmonology, 2020
Treatment of Cystic Fibrosis Patients Homozygous for F508del with Lumacaftor-Ivacaftor (Orkambi®) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells.
Favia M et al.
International Journal of Molecular Sciences, 2020
CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.
Lopes-Pacheco M
Frontiers in Pharmacology, 2019
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N et al.
Human Mutation, 2018
The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Diana A et al.
Journal of Human Genetics, 2016
A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Lucarelli M
Journal of Human Genetics, 2016
A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
Picci L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010