… cumulative effects on the surfactant synthesis pathway and modify the disease course. We
… for mutations in the SFTPB, ABCA3 and NKX2.1 genes, all associated with lung disease in …

… and sporadic monogenetic mutations in key genes related to telomere length and pulmonary
surfactant system proteins (3, 6). Over 60 mutations in the surfactant protein-C (SP-C) gene …

… interstitial lung disease can provide some indication towards the type of mutation causing
surfactant protein … full-term infants with diffuse lung disease which clinically and radiologically …

… Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our
objective … clinical and genetic spectrum of ILD in Chinese children associated with SFTPC …

… Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood
interstitial lung disease (… or mutations in the genes encoding different surfactant proteins …

… Mutations of SFTPC lead to interstitial lung disease, manifesting mainly postnatally or …
Concentration of surfactant protein C (SP-C) with a molecular weight of about 4 kDa (mature SP-C, …

… Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). …
SFTPC mutation and evaluate the effect of this mutant on protein synthesis and processing. …

… mutant forms of the gene encoding surfactant protein C (SFTPC) have been linked to interstitial
lung disease… of these mutations, SFTPC I73T , results in lung fibrosis are uncertain. In this …

… He was diagnosed with interstitial lung disease and treated with prednisone and
hydroxychloroquine. He required oxygen supplementation for three months. At 3-years, his …

… caused by mutations in genes necessary for surfactant production, … Surfactant protein C
(SP-C) is a hydrophobic protein encoded by SFTPC and produced by alveolar type II cells. SP-C …