Idiopathic Pulmonary Fibrosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci.
|
27630174 |
2016 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Surfactant protein C gene variations have not, however, been associated with sporadic cases, i.e. idiopathic pulmonary fibrosis (IPF).
|
15863652 |
2005 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation.
|
20371530 |
2010 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation).
|
30955586 |
2019 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analyses of the surfactant protein C gene in children with nonspecific interstitial pneumonia and adults with usual interstitial pneumonia exhibit a common heterozygous mutation located in exon 5.
|
15133475 |
2004 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
ER stress was first implicated in the pathogenesis of IPF >15 years ago with the discovery of disease-causing mutations in surfactant protein C, which result in a misfolded gene product in type II alveolar epithelial cells (AECs).
|
29567124 |
2018 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia.
|
17005585 |
2007 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In individuals with familial interstitial pneumonia without SFTPC mutations and patients with sporadic IPF, we also found UPR activation selectively in AECs lining areas of fibrotic remodeling.
|
18390830 |
2008 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Initial observations linking ER stress and IPF were made in cases of familial interstitial pneumonia (FIP), the familial form of IPF, in a family with a mutation in surfactant protein C (SFTPC).
|
22287606 |
2012 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Likewise, airway cells expressing SP-C and alveolar cells expressing KRT5 were observed in human idiopathic pulmonary fibrosis.
|
27967234 |
2017 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Nonclassifiable radiological patterns with cystic changes and histopathological patterns of usual interstitial pneumonia are characteristics of adult SFTPC mutation carriers.
|
20656946 |
2010 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recent reports have linked genetic mutations in surfactant protein C (SFTPC) with familial forms of pulmonary fibrosis, including one large family in which a number of family members were diagnosed with usual interstitial pneumonitis (UIP), the pathological correlate to IPF.
|
15516475 |
2004 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
The SP-C and SP-D SNPs and SP-B-linked microsatellite markers studied did not associate with IPF.
|
13680361 |
2003 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The missense isoleucine to threonine substitution at position 73 (I73T) in the alveolar type 2 cell-restricted surfactant protein-C (SP-C) gene (<i>SFTPC</i>) has been linked to clinical IPF.
|
30910861 |
2019 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These data provide proof of principle that mutant SP-C expression in vivo causes spontaneous lung fibrosis, strengthening the role of AT2 cell dysfunction as a key upstream driver of IPF pathogenesis.
|
29920187 |
2018 |
Idiopathic Pulmonary Fibrosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Transduction of pulmonary fibrosis-associated mutant surfactant protein C (SFPTC<sup>Δexon4</sup>) into AEC2 revealed characteristic transcriptional traits similar to those of patients with idiopathic pulmonary fibrosis.
|
31178143 |
2019 |