Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.
about
BRICHOS - a superfamily of multidomain proteins with diverse functionsInterstitial lung disease in children -- genetic background and associated phenotypes.An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancyGenetic disorders of surfactant dysfunctionThe Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segmentInterstitial lung diseases in children.The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation.Genetics and early detection in idiopathic pulmonary fibrosisNovel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagyA nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling.Surfactant dysfunction.Genetic Basis of Children's Interstitial Lung Disease.Pulmonary alveolar proteinosis in a cat.Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.Expression of Carcinoembryonic Cell Adhesion Molecule 6 and Alveolar Epithelial Cell Markers in Lungs of Human Infants with Chronic Lung Disease.Anterograde transport of surfactant protein C proprotein to distal processing compartments requires PPDY-mediated association with Nedd4 ubiquitin ligasesChronic interstitial lung diseases in children.GM-CSF pathway correction in pulmonary alveolar proteinosis.Imaging of Childhood Interstitial Lung DiseaseA novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.The biology of the ABCA3 lipid transporter in lung health and disease.Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms.SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.
P2860
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P2860
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Nonspecific interstitial pneum ...... the surfactant protein C gene.
@en
type
label
Nonspecific interstitial pneum ...... the surfactant protein C gene.
@en
prefLabel
Nonspecific interstitial pneum ...... the surfactant protein C gene.
@en
P2093
P2860
P1433
P1476
Nonspecific interstitial pneum ...... the surfactant protein C gene.
@en
P2093
Aldo Baritussio
Andrea Pettenazzo
Frank Brasch
Lake Morrison
Matthias Ochs
Michael F Beers
Paul A Stevens
Scott J Russo
Surafel Mulugeta
P2860
P356
10.1203/01.PDR.0000147567.02473.5A
P407
P577
2004-11-19T00:00:00Z
P6179
1040650024