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
ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.
Ognean ML et al.
Biomedicines, 2024
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.
Wang JY et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency.
Shaw NC et al.
Frontiers in Medicine, 2022
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Maron JL et al.
Jama Pediatrics, 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
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
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2016
Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.
Mulugeta S et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015
Respiratory failure in a term infant with cis and trans mutations in ABCA3.
Jackson T et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2015
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Wambach JA et al.
American Journal of Respiratory and Critical Care Medicine, 2014
Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
Williamson M et al.
Pediatric Pulmonology, 2014
Genetic testing in children with surfactant dysfunction.
Turcu S et al.
Archives of Disease in Childhood, 2013
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Wambach JA et al.
Pediatrics, 2012
An intronic ABCA3 mutation that is responsible for respiratory disease.
Agrawal A et al.
Pediatric Research, 2012
Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells.
Weichert N et al.
Respiratory Research, 2011
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
Somaschini M et al.
The Journal of Pediatrics, 2007
Surfactant Deficiency Causing Severe Pneumonia in a Child.
Gjeta I et al.
Current Health Sciences Journal, 0