|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we classified cellular consequences of missense ABCA3 sequence variations leading to pulmonary disease of variable severity.
|
29505158 |
2018 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited.
|
27516224 |
2017 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations within the ABCA3 gene may functionally impair the transporter, causing lung diseases in newborns, children and adults.
|
28887056 |
2017 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases.
|
28025703 |
2017 |
|
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration.
|
26222203 |
2016 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We identified 185 infants and children with homozygous or compound heterozygous ABCA3 mutations and lung disease.
|
24871971 |
2014 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease.
|
23846195 |
2014 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Large ABCA3 and SFTPC deletions resulting in lung disease.
|
24024739 |
2013 |
|
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
ABCA3-specific cDNA was generated and sequenced from frozen lung tissue from a child with fatal lung disease with only one identified ABCA3 mutation.
|
22337229 |
2012 |
|
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations of genes affecting surfactant homeostasis, such as SFTPB, SFTPC and ABCA3, lead to diffuse lung disease in neonates and children.
|
21867529 |
2011 |
|
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The segregation of ABCA3 alleles, absence of ABCA3 immunostaining, lung pathology, and ultrastructural findings support genetic ABCA3 deficiency as the cause of lung disease in these 2 infants, despite the lack of an identified genetic variant.
|
20304423 |
2010 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
ABCA3 mutations were the basis for lung disease in all three patients.
|
17429902 |
2007 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
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
|
0.100 |
Biomarker
|
group |
BEFREE |
The preferentially type 2 cell expressed genes involved in critical functions (such as ATP-binding cassette transporter, ABCA3), those involved in susceptibility to acute lung damage, and those with known susceptibility to other severe lung diseases (such as G protein-coupled receptor for asthma susceptibility, GPR154 alias GPRA) will possibly serve as candidate genes in future studies.
|
17127271 |
2007 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This review summarizes current knowledge concerning clinical, genetic, and pathologic features of the lung disease associated with mutations in the ABCA3 gene, and also briefly reviews some other forms of childhood interstitial lung diseases that have their antecedents in the neonatal period and may also have a genetic basis.
|
17142158 |
2006 |
|
Lung diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Immunohistochemical analysis of surfactant protein expression in three patients revealed a specific staining pattern for surfactant protein-B, which was the same pattern observed in several infants with fatal lung disease due to ABCA3 mutations.
|
15976379 |
2005 |
|
Lung diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
ABCA3 is critical for the proper formation of lamellar bodies and surfactant function and may also be important for lung function in other pulmonary diseases.
|
15044640 |
2004 |