|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We examined whether MUC5B is similarly linked to ILD secondary to SFTPC mutations.
|
25858779 |
2015 |
|
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 |
BEFREE |
We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a proven SFTPC mutation.
|
25657025 |
2015 |
|
Lung Diseases, Interstitial
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The most frequent SFTPC mutation in ILD patients leads to a threonine for isoleucine substitution at position 73 (I73T) of the SP-C preprotein (proSP-C), however little is known about the cellular consequences of SP-CI73T expression.
|
21092132 |
2010 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
We detected a novel c.163C>T mutation located in the mature domain of SFTPC associated with ILD that altered the subcellular localization of proSP-C in A549 cells.
|
26375473 |
2016 |
|
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 |
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 |
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
Our findings shed new light on the pathomechanisms underlying SP-C deficiency associated ILD and provide insight into the mechanisms by which drugs currently used in ILD therapy act.
|
22458263 |
2012 |