Associated Papers
Role of the ADAM33 rs2280091 Variant in Modulating Lung Function in Cystic Fibrosis.
Dos Santos VS et al.
International Journal of Molecular Sciences, 2025
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 2025
The clinical effectiveness of elexacaftor/tezacaftor/ivacaftor (ETI) for people with CF without a F508del variant: A systematic review and meta-analysis.
Lupas D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
Clinical and functional efficacy of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis carrying the N1303K mutation.
Sadras I et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.
Lefferts JW et al.
International Journal of Molecular Sciences, 2023
Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.
Davyt M et al.
The Journal of Biological Chemistry, 2023
Biliary disease and cholecystectomy after initiation of elexacaftor/ivacaftor/tezacaftor in adults with cystic fibrosis.
Safirstein J et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021
Long-Term Ivacaftor in People Aged 6 Years and Older with Cystic Fibrosis with Ivacaftor-Responsive Mutations.
Pilewski JM et al.
Pulmonary Therapy, 2020
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi R et al.
Pediatric Pulmonology, 2020
Steric Inhibition of 5' UTR Regulatory Elements Results in Upregulation of Human CFTR.
Sasaki S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls.
Bell SC et al.
Pharmacology & Therapeutics, 2015
CFTR-mutation specific applications of CFTR-directed monoclonal antibodies.
van Meegen MA et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2013
Hispanic Infants with cystic fibrosis show low CFTR mutation detection rates in the Illinois newborn screening program.
Watts KD et al.
Journal of Genetic Counseling, 2012
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.
Comeau AM et al.
Pediatrics, 2004
Update and Review: Cystic Fibrosis.
Brown T et al.
Journal of Genetic Counseling, 1999