|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
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 |
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 |
Interstitial lung disease in both children and adults has been linked to mutations in the lung-specific surfactant protein C (SFTPC) gene.
|
21707890 |
2011 |
|
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 |
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 |
Biomarker
|
group |
GENOMICS_ENGLAND |
A mutation in the surfactant protein C gene associated with familial interstitial lung disease.
|
11207353 |
2001 |
|
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 |
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 |
Deleterious mutations of SP-B, ABCA3 or SP-C cause congenital interstitial lung disease that mimics the phenotype of established severe BPD.
|
23736009 |
2013 |
|
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 |
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 |
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 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Furthermore, to understand how the pro-SP-C BRICHOS domain present in the ER lumen can interact with the TM segment of pro-SP-C, we studied the membrane insertion properties of the recombinant form of the pro-SP-C BRICHOS domain and two ILD-associated mutants.
|
26041777 |
2015 |
|
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 |
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 |
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 |
More important, it offers the updated viewpoint that mutations in the BRICHOS domain of surfactant protein C, which cause interstitial lung disease and induce cell death specifically in lung epithelial cells, in effect provide genetic proof that the Witschi Hypothesis is indeed the correct theory to explain the pathogenesis of fibrosis in the lungs.
|
24142519 |
2013 |
|
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 |
Mutation of threonine for isoleucine at codon 73 (I73T) in the human surfactant protein C (hSP-C) gene (SFTPC) accounts for a significant portion of SFTPC mutations associated with interstitial lung disease (ILD).
|
25344067 |
2015 |
|
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 |
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 |
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 |