Associated Papers
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M et al.
Pediatric Pulmonology, 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 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.
Xiao GL et al.
World Journal of Pediatrics : Wjp, 2023
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Interventional creation of an endogenous reverse Potts shunt in an infant with pulmonary hypertension and genetic surfactant disorder-a case report.
Sallmon H et al.
Cardiovascular Diagnosis and Therapy, 2020
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
Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.
Chen J et al.
Pediatric Pulmonology, 2019
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali ED et al.
Erj Open Research, 2019
[A novel compound heterozygous mutation in ABCA3 gene in a child with diffuse parenchymal lung disease].
Bao YM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Campo I et al.
Respiratory Research, 2014
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F et al.
Human Molecular Genetics, 2012