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 |
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 |
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 |
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children.
|
17575475 |
2007 |
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We identified two novel mutations in highly conserved areas of the SFTPC gene, and show that heterozygotes for the mutations have normal lung function and are unaffected by COPD and interstitial lung disease.
|
19910179 |
2010 |
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To determine the effects of a mutation in the SP-C gene on surfactant, we obtained lung tissue at the time of transplantation from a 14-mo-old infant with progressive ILD.
|
14656744 |
2004 |
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.
|
20403820 |
2010 |