Associated Papers
ABCA3 Surfactant-Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature.
Nolan J et al.
Respirology Case Reports, 2025
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.
Serra G et al.
Journal of Clinical Medicine, 2025
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.
Baratella E et al.
Diagnostics (basel, Switzerland), 2021
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Oltvai ZN et al.
Cold Spring Harbor Molecular Case Studies, 2020
ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.
Klay D et al.
Current Opinion in Pulmonary Medicine, 2020
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali ED et al.
Erj Open Research, 2019
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U et al.
Human Mutation, 2018
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.
Zhou W et al.
The Application of Clinical Genetics, 2016
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Campo I et al.
Respiratory Research, 2014
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Coghlan MA et al.
Bmj Open Respiratory Research, 2014