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 …

Idiopathic pulmonary fibrosis is an etiologically complex interstitial lung disease
characterized by progressive scarring of the lungs with a subsequent decline in lung …

Idiopathic pulmonary fibrosis (IPF) is one of the most aggressive forms of idiopathic
interstitial pneumonias, characterized by chronic and progressive fibrosis subverting the …

The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly
appreciated. Monogenic disorders associated with IPF affect two pathways: telomere …

Introduction Interstitial lung diseases (ILDs) can be caused by mutations in the SFTPA1 and
SFTPA2 genes, which encode the surfactant protein (SP) complex SP-A. Only 11 SFTPA1 or …

Pulmonary surfactant is a lipoprotein synthesized and secreted by alveolar type II cells in
lung. We evaluated the associations between 200,139 single nucleotide polymorphisms …

Interstitial lung disease (ILD) in children (chILD) is a heterogeneous group of rare respiratory
disorders that are mostly chronic and associated with high morbidity and mortality. The …

Background In some patients with progressive fibrosing interstitial lung disease (ILD),
disease is caused by carriage of a mutation in a surfactant-related gene (SRG) such as …

Pulmonary fibrosis (PF) is a very rare condition in children, which may be observed in
specific forms of interstitial lung disease. None of the clinical, radiological, or histological …

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 …