Summary Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated
with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung …

The BRICHOS domain is found in human precursor proteins associated with cancer,
dementia (Bri2) and amyloid lung disease (proSP-C). Recombinant human (rh) proSP-C …

Alveolar epithelial type II (AEII) cells are “professional” secretory cells that synthesize and
secrete massive quantities of proteins to produce pulmonary surfactant and maintain airway …

Surfactant protein C (SP-C) has several functions in pulmonary surfactant. These include the
transfer of lipids between different membrane structures, a role in surfactant recycling and …

The field of children's interstitial lung disease (chILD) has been confusing for clinicians and
families. It is fraught with imperfect pediatric definitions and classification systems, limited …

Pulmonary surfactant is a mixture of lipids, mostly phospholipids, and proteins that allows for
breathing with minimal effort. The current chapter discusses the metabolism of the …

Background Pulmonary alveolar proteinosis (PAP) is a rare disease, characterized by
excessive intra-alveolar accumulation of surfactant lipids and proteins. Therapeutic whole …

Dominant mutations in coding regions of the surfactant protein-C gene, SFTPC, cause
respiratory distress syndrome (RDS) in infants. However, the contribution of variants in …

Genetic defects of surfactant metabolism are associated with a broad range of clinical
manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease …

In only around 40% of families with pulmonary fibrosis (PF) a suspected genetic cause can
be found. Genetic overlap analysis of Whole Exome Sequencing (WES) data may be a …