|
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 |
BEFREE |
Mutations in the surfactant protein C gene (SFTPC) have been recently associated with the development of diffuse lung disease, particularly sporadic and familial interstitial lung disease (ILD).
|
19443464 |
2009 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In general, mutations in the SP-B gene SFTPB are associated with fatal respiratory distress in the neonatal period, and mutations in the SP-C gene SFTPC are more commonly associated with interstitial lung disease in older infants, children, and adults.
|
19220077 |
2009 |
|
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 |
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 |
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 |
The wide variability in the age of onset of ILD in patients with SFTPC mutations may be related to environmental insults that ultimately overwhelm the homeostatic cytoprotective response.
|
16449190 |
2006 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recessive loss of function mutations in surfactant protein-B (SP-B) gene lead to respiratory failure that is lethal in the newborn period while single allelic mutations in the surfactant protein-C (SP-C) gene cause interstitial lung disease of varying severity and age of onset.
|
17142157 |
2006 |
|
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 |
The E66K substitution is representative of a new class of SP-C mutation associated with interstitial lung disease that is diverted from the normal biosynthetic pathway.
|
15557112 |
2005 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
This review examines the current state of SP-C biosynthesis with a focus on recent developments related to molecular and cellular mechanisms implicated in the emerging role of SP-C mutations in the pathophysiology of diffuse parenchymal lung disease.
|
15709974 |
2005 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The I73T mutation was found on 7 of 232 SP-C alleles from 7 unrelated children with ILD but was not found on 332 control SP-C alleles ( P < .01, Fisher exact test).
|
15756222 |
2005 |
|
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 |
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 |
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 |
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 |
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 |
The dominant mutations of the SP-C gene have recently been associated with interstitial lung diseases.
|
14735158 |
2004 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
LHGDN |
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 |
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 |
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 |
Biomarker
|
group |
LHGDN |
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 |
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 |
LHGDN |
Mutations in the surfactant protein C gene associated with interstitial lung disease.
|
11893657 |
2002 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Furthermore, a mutation in the surfactant protein C gene that results in complete absence of the protein has been shown to be associated with familial ILD.
|
11806849 |
2002 |