The matrix metalloproteinases (MMPs), a family of 25 secreted and cell surface-bound
neutral proteinases, process a large array of extracellular and cell surface proteins under …

Molecular mechanisms of surfactant delivery to the air/liquid interface in the lung, which is
crucial to lower the surface tension, have been studied for more than two decades. Lung …

Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of
unknown etiology. Some individuals with IPF have a familial disorder that segregates as a …

Rationale: Considerable confusion exists regarding nomenclature, classification, and
management of pediatric diffuse lung diseases due to the relative rarity and differences in …

ABCA3 protein is expressed predominantly at the limiting membrane of the lamellar bodies
in alveolar type II cells, and mutations in the ABCA3 gene cause lethal respiratory distress in …

Inherited disorders of pulmonary surfactant-associated proteins are rare but provide
important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of …

Several mutations within the BRICHOS domain of surfactant protein C (SP-C) have been
linked to interstitial lung disease. Recent studies have suggested that these mutations cause …

Heterozygous SFTPC mutations have been associated with adult and pediatric interstitial
lung disease (pILD). Inheritance is autosomal dominant, but de novo mutations may cause …

Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in
14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown …

Pulmonary inflammation, abnormalities in type II cell and macrophage morphology, and
pulmonary fibrosis are features of Hermansky-Pudlak Syndrome (HPS), a recessive disorder …