Background Patients with inherited pulmonary surfactant metabolism disorders have a wide
range of clinical outcomes and imaging findings. Response to current anti‐inflammatory …

Introduction Lung biopsy is considered as the last step investigation for diagnosing lung
diseases; however, its indication must be carefully balanced with its invasiveness. The …

Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3)(OMIM:
601615) gene constitute the most frequent genetic cause of severe neonatal respiratory …

ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive
pulmonary disorders such as neonatal respiratory distress and interstitial lung disease …

Background and Objectives: Respiratory distress syndrome (RDS) in preterm infants
commonly occurs due to the immaturity-related deficiency of pulmonary surfactant. Beyond …

Surfactants produced by type II alveolar epithelial cells (AT2 cells) are usually present in
inclusion organelles called lamellar bodies (LBs). The ATP-binding cassette subfamily A …

Interstitial lung disease can be an indication for lung transplant at any age, but it is a
particularly common indication for lung transplant in infants. Nevertheless, not all interstitial …

Purpose The growing size of public variant repositories prompted us to test the accuracy of
pathogenicity prediction of DNA variants using population data alone. Methods Under the a …

Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress,
hypoxemic respiratory failure, and interstitial lung disease. ABCA3 transports phospholipids …

ATP-binding cassette transporter A3 (ABCA3, MIM 601615) is a major player of pulmonary
surfactant biosynthesis allowing phospholipid transport into lamellar bodies (LB) of alveolar …