|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
New surfactant protein C gene mutations associated with diffuse lung disease.
|
19443464 |
2009 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene.
|
15557112 |
2005 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.
|
15293602 |
2004 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.
|
15572558 |
2004 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
|
15039969 |
2004 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.
|
15293602 |
2004 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.
|
15572558 |
2004 |
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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
|
|
0.040 |
GeneticVariation
|
BEFREE |
I73T was a common SFTPC mutation in Chinese ILD children associated with surfactant protein C mutations.
|
31462320 |
2019 |
|
Lung Diseases, Interstitial
|
|
0.040 |
GeneticVariation
|
BEFREE |
We conclude that hSP-C(I73T) induces an acquired block in macroautophagy-dependent proteostasis and mitophagy, which could contribute to the increased vulnerability of the lung epithelia to second-hit injury as seen in ILD.
|
25344067 |
2015 |
|
Lung Diseases, Interstitial
|
|
0.040 |
GeneticVariation
|
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
|
|
0.040 |
GeneticVariation
|
BEFREE |
The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra-alveolar storage of a granular, protein- and lipid-rich, periodic acid Schiff (PAS)-positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease.
|
15039969 |
2004 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The missense isoleucine to threonine substitution at position 73 (I73T) in the alveolar type 2 cell-restricted surfactant protein-C (SP-C) gene (<i>SFTPC</i>) has been linked to clinical IPF.
|
30910861 |
2019 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
To causally link these events, we developed a knockin mouse model capable of regulated expression of an IPF-associated isoleucine-to-threonine substitution at codon 73 (I73T) in Sftpc (SP-CI73T).
|
29920187 |
2018 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation.
|
20371530 |
2010 |
|
Lung diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our results confirm that SFTPC mutations are a frequent cause of diffuse lung disease, and that I73T is the most frequent SFTPC mutation associated with diffuse lung disease.
|
19443464 |
2009 |
|
Lung diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
To test the hypothesis that ABCA3 mutations modify the severity of lung disease in individuals with SFTPC mutations, we sequenced ABCA3 from four symptomatic infants with the same SFTPC mutation, a substitution of isoleucine by threonine in codon 73 (I73T).
|
17597647 |
2007 |
|
Lung diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
These findings support the hypothesis that the I73T mutation predisposes to or causes lung disease.
|
15756222 |
2005 |
|
Respiratory Failure
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.
|
26925580 |
2016 |
|
Respiratory Failure
|
|
0.020 |
GeneticVariation
|
BEFREE |
The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra-alveolar storage of a granular, protein- and lipid-rich, periodic acid Schiff (PAS)-positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease.
|
15039969 |
2004 |
|
Signs and Symptoms, Respiratory
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.
|
26925580 |
2016 |
|
Lipoid Proteinosis of Urbach and Wiethe
|
|
0.010 |
GeneticVariation
|
BEFREE |
We reported previously that unlike the BRICHOS misfolding SFTPC mutants, expression of hSP-C(I73T) induces lung remodeling and alveolar lipoproteinosis without a substantial Endoplasmic Reticulum (ER) stress response or ER-mediated intrinsic apoptosis.
|
21707890 |
2011 |
|
Usual Interstitial Pneumonia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation.
|
20371530 |
2010 |
|
Respiratory Distress Syndrome, Newborn
|
|
0.010 |
GeneticVariation
|
BEFREE |
The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in population-based or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown.
|
18317237 |
2008 |
|
Pulmonary Alveolar Proteinosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra-alveolar storage of a granular, protein- and lipid-rich, periodic acid Schiff (PAS)-positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease.
|
15039969 |
2004 |