Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Synthetic surfactants with SP-B and SP-C analogues to enable worldwide treatment of neonatal respiratory distress syndrome and other lung diseases.
|
30357986 |
2019 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes.
|
27362365 |
2017 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our objective was to characterize the cellular/ultrastructural correlates of surfactant protein C (SP-C) mutations in children with idiopathic diffuse lung diseases.
|
25782673 |
2015 |
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Drawing on data generated from a variety of model systems expressing disease-related surfactant component mutations [surfactant proteins A and C (SP-A and SP-C); the lipid transporter ABCA3], this review will examine the concept of epithelial dysfunction in fibrotic lung disease, provide an update on AT2 cell and surfactant biology, summarize cellular responses to mutant surfactant components [including endoplasmic reticulum (ER) stress, mitochondrial dysfunction, and intrinsic apoptosis], and examine quality control pathways (unfolded protein response, the ubiquitin-proteasome system, macroautophagy) that can be utilized to restore AT2 homeostasis.
|
26186947 |
2015 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Large ABCA3 and SFTPC deletions resulting in lung disease.
|
24024739 |
2013 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic analysis identified a novel SFTPC mutation as the cause of her lung disease.
|
23719253 |
2013 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis.
|
20658481 |
2010 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
New surfactant protein C gene mutations associated with diffuse lung disease.
|
19443464 |
2009 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Certain SP-C gene (SFTPC) polymorphisms associate with lung diseases and very preterm birth.
|
19735006 |
2009 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) were sequenced from the parents of one infant and two unrelated infants with fatal neonatal lung disease.
|
17429902 |
2007 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.
|
17597647 |
2007 |
Lung diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
This review examines our current understanding of the role of SP-C in maintaining alveolar epithelial homeostasis and the potential role of abnormal SP-C expression in the development of lung diseases with particular emphasis on microbial pulmonary infection and inflammation.
|
16782390 |
2006 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Rare polymorphisms within surfactant protein C have been linked to sporadic paediatric lung diseases, like proteinosis or interstitial lung diseases.
|
17121584 |
2006 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.
|
16355106 |
2006 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A common mutation in the surfactant protein C gene associated with lung disease.
|
15756222 |
2005 |
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Surfactant protein C biosynthesis and its emerging role in conformational lung disease.
|
15709974 |
2005 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
LHGDN |
This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases.
|
14977415 |
2004 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases.
|
14977415 |
2004 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
|
15039969 |
2004 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The goal of this study was to determine whether a disease-linked mutation in SFTPC causes lung disease in transgenic mice.
|
14525980 |
2003 |
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, reports on the association of development of lung disease with SP-C deficiency have led to new insights into the importance of SP-C for proper surfactant homeostasis.
|
12176392 |
2002 |
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The development of peptide analogues of SP-B and SP-C offers the possibility to study their molecular mechanism of action and will allow the design of surfactant formulations for specific pulmonary diseases and better quality control.
|
11001826 |
2000 |
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility.
|
9813382 |
1998 |