Genetic mutations affecting proteins required for normal surfactant protein function are a rare
cause of respiratory disease. The genes identified that cause respiratory disease are …

Although our understanding of the genetics and pathology of congenital lung diseases such
as surfactant protein deficiency, cystic fibrosis, and alpha-1 antitrypsin deficiency is …

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 …

Familial interstitial lung disease (ILD) is defined as presence of ILD in 2 or more family
members. Surfactant protein C (SFTPC) gene mutations are rare, but well‐known cause of …

В настоящее время активно ведутся научно-исследовательские работы по выявлению
генетических факторов риска развития бронхолегочной дисплазии (БЛД) у …

Epithelial cell dysfunction and abnormal wound healing have reemerged as central
concepts in the pathophysiology of a variety of parenchymal diseases of the distal adult lung …

Mutations in genes encoding surfactant protein B (SP-B), ATP-binding cassette transporter
A3 (ABCA3) and surfactant protein C (SP-C) can result in neonatal and pediatric lung …

Interstitial lung diseases (ILD) or diffuse parenchymal lung diseases (DPLD) are a
heterogenous group of chronic disorders that affect the distal lung. They are largely …

Genetics and Physiology of Surfactant Protein Deficiencies — Johns Hopkins University
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