Associated Papers
Clinical characteristics of SFTPC gene mutations in children: a single-center experience.
Yang T et al.
Italian Journal of Pediatrics, 2025
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.
Park JS et al.
Journal of Korean Medical Science, 2018
Recurrent diffuse lung disease due to surfactant protein C deficiency.
Kazzi B et al.
Respiratory Medicine Case Reports, 2018
A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.
Litao MK et al.
Pediatric Pulmonology, 2017
Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.
Salerno T et al.
Italian Journal of Pediatrics, 2016
Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.
Mulugeta S et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
Peca D et al.
European Journal of Human Genetics : Ejhg, 2015
A nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling.
Beers MF et al.
Traffic (copenhagen, Denmark), 2011
New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L et al.
Journal of Medical Genetics, 2009
Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C.
Nerelius C et al.
The Biochemical Journal, 2008
Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms.
Mulugeta S et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2007
The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment.
Johansson H et al.
The Journal of Biological Chemistry, 2006
Interstitial lung disease in children -- genetic background and associated phenotypes.
Hartl D et al.
Respiratory Research, 2005
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.
Stevens PA et al.
Pediatric Research, 2005
Genetic disorders of surfactant dysfunction.
Wert SE et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0