Associated Papers
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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators.
Tümmler B et al.
Molecular and Cellular Pediatrics, 2025
First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF study.
Bonnel AS et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls.
Kroes S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.
Pranke I et al.
Frontiers in Pharmacology, 2025
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Investigating adverse genomic and regulatory changes caused by replacement of the full-length CFTR cDNA using Cas9 and AAV.
Vaidyanathan S et al.
Molecular Therapy. Nucleic Acids, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint.
Burgel PR et al.
The European Respiratory Journal, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Terlizzi V et al.
Pediatric Pulmonology, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 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
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey MJ et al.
The Journal of Pediatrics, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al.
European Journal of Human Genetics : Ejhg, 2016
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
LaRusch J et al.
Plos Genetics, 2014
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
Grosu DS et al.
Expert Review of Molecular Diagnostics, 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
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.
Schippa S et al.
Plos One, 2013
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
Chia J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.
Ramalho AS et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2009
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Bienvenu T et al.
Human Biology, 2005
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA et al.
European Journal of Human Genetics : Ejhg, 2004
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitstable: implications for DNA-based diagnosis.
Ambrose HJ et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 1999
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V et al.
Human Genetics, 1995
Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator.
Carroll TP et al.
The Journal of Biological Chemistry, 1995
Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.
Schwarz MJ et al.
Human Mutation, 1995