Genes involved in the production of pulmonary surfactant are crucial for the development
and maintenance of healthy lungs. Germline mutations in surfactant-related genes cause a …

Pulmonary fibrosis comprises a wide range of fibrotic lung diseases with unknown
pathogenesis and poor prognosis. Familial pulmonary fibrosis (FPF) represents a unique …

Surfactant, which was first identified in the 1920s, is pivotal to lower the surface tension in
alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis …

ATP-binding cassette class A3 (ABCA3) is a lipid transporter that plays a critical role in
pulmonary surfactant function. The substitution of valine for glutamic acid at codon 292 …

Background The majority of unexplained respiratory distress syndrome (URDS) cases in late
preterm and term infants are caused by genetic abnormalities, with the most common of …

Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes
potentially responsible for neonatal lung disease include those encoding proteins important …

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

Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary
surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary …

The article presents a case study of a 2-year-old girl with no personal or family history of
respiratory disease developed human metapneumovirus infection. The article discusses that …

Genetic variants of small airways and interstitial pulmonary disease have not been
comprehensively studied. This cluster of respiratory disorders usually manifests from early …