Associated Papers
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
ABCA3 gene mutations shape the clinical profiles of severe unexplained respiratory distress syndrome in late preterm and term infants.
Wang J et al.
Translational Pediatrics, 2021
The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.
Denman L et al.
Pediatric Investigation, 2018
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
Wittmann T et al.
Molecular Medicine (cambridge, Mass.), 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 newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.
Malý J et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
Genetic risk factors associated with respiratory distress syndrome.
Jo HS
Korean Journal of Pediatrics, 2014
[Clinical analysis of heterozygous ABCA3 mutations in children].
Xu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
Ciantelli M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2011
Identification and characterization of a novel ABCA3 mutation.
Park SK et al.
Physiological Genomics, 2010
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
Matsumura Y et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2008
Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.
Yokota T et al.
European Journal of Pediatrics, 2008
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
Matsumura Y et al.
The Journal of Biological Chemistry, 2006
Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.
Cheong N et al.
The Journal of Biological Chemistry, 2006
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Shulenin S et al.
The New England Journal of Medicine, 2004
Genetic disorders of surfactant dysfunction.
Wert SE et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0