|
Lung Diseases, Interstitial
|
0.500 |
Biomarker
|
group |
BEFREE |
Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.
|
26925580 |
2016 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
I73T was a common SFTPC mutation in Chinese ILD children associated with surfactant protein C mutations.
|
31462320 |
2019 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding SP-B result in severe, fatal neonatal lung disease, and mutations in the gene encoding SP-C are associated with chronic interstitial lung diseases in newborns, older children, and adults.
|
14977415 |
2004 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These findings demonstrate that subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest that ABCA3 variants could affect disease pathogenesis.
|
20371530 |
2010 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
There is growing evidence that mutations in the surfactant protein C gene play a role in the pathogenesis of certain forms of pediatric interstitial lung disease.
|
15819986 |
2005 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
ProSP-C contains a BRICHOS domain, in which many ILD-associated mutations are localized, and the BRICHOS domain can prevent SP-C from forming amyloid-like fibrils.
|
24099305 |
2013 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To identify possible starting points for therapeutic intervention, we stably transfected A549 alveolar epithelial cells with several proSP-C mutations previously found in patients suffering from ILD.
|
23701443 |
2013 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A 333-base deletion involving part of exon 4 and the adjacent intron of the gene encoding surfactant protein C was identified in a child with interstitial lung disease.
|
24024739 |
2013 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Natural history of five children with surfactant protein C mutations and interstitial lung disease.
|
24347114 |
2014 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In particular, SFTPC mutations have been reported in a number of familial forms of pulmonary fibrosis and in infants with interstitial lung diseases.
|
17005585 |
2007 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease.
|
28295039 |
2017 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
LHGDN |
More than 20 mutations in the ER-lumenal CTC (C-terminal domain of proSP-C), are associated with ILD (interstitial lung disease), and some of the mutations cause intracellular accumulation of cytotoxic protein aggregates and a corresponding decrease in mature SP-C.
|
18643778 |
2008 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recently, two seemingly dominant-negative mutations of the pro-SP-C-encoding gene (SFTPC, MIM 178620), were reported in families with vertically-inherited interstitial lung disease (Nogee et al.
|
15039969 |
2004 |
|
Lung Diseases, Interstitial
|
0.500 |
Biomarker
|
group |
BEFREE |
While a lack of dimeric SP-B was found only in the sole subject with hereditary SP-B deficiency, low or absent SP-C was observed not only in surfactant dysfunction disorders but also in patients with other diffuse parenchymal lung diseases pathogenetically related to the alveolar surfactant region.
|
26375475 |
2016 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Patients with mutations in the pulmonary surfactant protein C (SP-C) gene develop interstitial lung disease and pulmonary exacerbations associated with viral infections including respiratory syncytial virus (RSV).
|
19304906 |
2009 |
|
Lung Diseases, Interstitial
|
0.500 |
Biomarker
|
group |
BEFREE |
The BRICHOS domain was initially defined from sequence alignments of the Bri protein associated with familial dementia, chondromodulin associated with chondrosarcoma and surfactant protein C precursor (proSP-C) associated with respiratory distress syndrome and interstitial lung disease (ILD).
|
21668643 |
2011 |
|
Lung Diseases, Interstitial
|
0.500 |
Biomarker
|
group |
LHGDN |
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.
|
11991887 |
2002 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
LHGDN |
These observations suggest that individuals with this particular mutation in surfactant protein C gene might be at increased risk of interstitial lung disease of variety of types.
|
15133475 |
2004 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Mutations in the surfactant protein C gene associated with interstitial lung disease.
|
11893657 |
2002 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Epithelial Expression of an Interstitial Lung Disease-Associated Mutation in Surfactant Protein-C Modulates Recruitment and Activation of Key Myeloid Cell Populations in Mice.
|
30910861 |
2019 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.
|
15293602 |
2004 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Conclusion Since ABCA3 mutations seem to be a heterogeneous entity with various phenotypes, we recommend genetic testing for mutations in SP-C and ABCA3 genes to be considered in children with unexplained interstitial lung disease.
|
23443156 |
2013 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.
|
28157837 |
2017 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice.
|
14525980 |
2003 |