Associated Papers
Author's Reply to Yang and Wang: "Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models".
Amaral MD et al.
Molecular Diagnosis & Therapy, 2026
Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.
Railean V et al.
Molecular Diagnosis & Therapy, 2026
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
Magnetic Resonance Imaging Detects Progression of Lung Disease and Impact of Newborn Screening in Preschool Children with Cystic Fibrosis.
Stahl M et al.
American Journal of Respiratory and Critical Care Medicine, 2021
Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.
Graeber SY et al.
Journal of Personalized Medicine, 2021
Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.
Ramalho AS et al.
The European Respiratory Journal, 2021
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
Magnetic resonance imaging detects changes in structure and perfusion, and response to therapy in early cystic fibrosis lung disease.
Wielpütz MO et al.
American Journal of Respiratory and Critical Care Medicine, 2014
The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.
Roth EK et al.
Plos One, 2011
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
Enquist K et al.
Journal of Molecular Biology, 2009
High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
Storm K et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Characterization of mutations located in exon 18 of the CFTR gene.
Vankeerberghen A et al.
Febs Letters, 1998