Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 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
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.
Lundman E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
The use of ivacaftor in CFTR mutations resulting in residual functioning protein.
Guigui S et al.
Respiratory Medicine Case Reports, 2016
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.
Lewis C et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Dell'Edera D et al.
Journal of Medical Case Reports, 2014
Integrin α6β4 identifies human distal lung epithelial progenitor cells with potential as a cell-based therapy for cystic fibrosis lung disease.
Li X et al.
Plos One, 2013
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
Coiana A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2011
CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study.
Munthe-Kaas MC et al.
Respiratory Medicine, 2006
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.
Faà V et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
Saba L et al.
Human Molecular Genetics, 1993