Mutations in the ATP‐binding cassette subfamily A member 3 (ABCA3) gene are the most
common monogenetic cause of surfactant dysfunction disorders in newborns and interstitial …

Rare or private, biallelic variants in the ABCA3 (ATP-binding cassette transporter A3) gene
are the most common monogenic cause of lethal neonatal respiratory failure and childhood …

ABCA3 (ATP-binding cassette subfamily A member 3) is a lipid transporter expressed in
alveolar type II cells and localized in the limiting membrane of lamellar bodies. It is crucial for …

Genetic disorders of surfactant dysfunction result in significant morbidity and mortality,
among infants, children, and adults. Available medical interventions are limited, nonspecific …

Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like
substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is …

Adaptation to air breathing after birth is dependent upon the synthesis and secretion of
pulmonary surfactant by alveolar type 2 (AT2) cells. Surfactant, a complex mixture of …

Diffuse lung diseases in children, also called children's interstitial lung disease, are a
diverse group of rare disorders that cause disturbances of gas exchange in the lungs …

Rationale: Biomarker signatures are needed in children with children's interstitial and diffuse
lung disease (chILD) to improve diagnostic approaches, increase our understanding of …

The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a
transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids …

The interstitial lung diseases (ILDs) are a group of progressive disorders characterized by
chronic inflammation and/or fibrosis in the lung. While some ILDs can be linked to specific …