|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, whether variations in ABCA3 have a role in the development of adult ILD, including idiopathic pulmonary fibrosis (IPF), remains to be addressed.
|
28642621 |
2017 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Moreover, ABCA3 mutations found in patients with DPLD interfere with this protective effect of ABCA3, resulting in free cholesterol induced cell death.
|
25817392 |
2015 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in ABCA3 display a common genetic cause for diseases caused by surfactant deficiency like respiratory distress in neonates and interstitial lung disease in children and adults, for which currently no causal therapy exists.
|
31210424 |
2019 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in ABCA3 not only disturb surfactant metabolism but also cause chronic interstitial lung diseases.
|
31473345 |
2019 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In children with ABCA3-deficiency from two ILD causing mutations saturated and monounsaturated phosphatidylcholine species with 30 and 32 carbons and almost all phosphatidylglycerol species were severely reduced.
|
25692779 |
2015 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
ABCA3 mutational defects cause respiratory distress in newborns and interstitial lung disease (ILD) in children.
|
22434821 |
2012 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding ABCA3 have been found in children with severe neonatal respiratory disease and older children with some forms of interstitial lung disease.
|
17142158 |
2006 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To test the hypothesis that ABCA3 mutations are not always associated with fatal neonatal lung disease but are a cause of pediatric interstitial lung disease.
|
15976379 |
2005 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ABCA3 gene are an important genetic cause for respiratory distress syndrome in neonates and interstitial lung disease in children and adults, for which there is currently no cure.
|
29325094 |
2018 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD).
|
22068586 |
2012 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients.
|
22145626 |
2012 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Nonsense, missense, frameshift, and splice-site mutations in the ABCA3 gene (ABCA3) have been reported as causes of neonatal respiratory failure (NRF) and interstitial lung disease.
|
22337229 |
2012 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe neonatal respiratory distress syndrome and childhood interstitial lung disease.
|
27374344 |
2016 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79).
|
25105258 |
2014 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults.
|
29436403 |
2018 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These findings demonstrate that subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest that ABCA3 variants could affect disease pathogenesis.
|
20371530 |
2010 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We found that the investigated missense mutations within the ABCA3 gene affect surfactant homeostasis in different ways: first by disrupting intracellular ABCA3 protein localization (c.643C > A, p.Q215K; c.2279T > G, p.M760R), second by impairing the lipid transport of ABCA3 protein (c.875A > T, p.E292V; c.4164G > C, p.K1388N), and third by yet undetermined mechanisms predisposing for the development of interstitial lung diseases despite correct localization and normal lipid transport of the variant ABCA3 protein (c.622C > T, p.R208W; c.863G > A, p.R288K; c.2891G > A, p.G964D).
|
29505158 |
2018 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Pulmonary surfactant deficiency caused by mutations in ABCA3 (ATP-binding cassette transporter of the A subfamily, member 3) gene results in diffuse parenchymal lung disease (DPLD) in children.
|
23814005 |
2013 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease.
|
26780485 |
2016 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The presentation and course of interstitial lung disease due to ABCA3 mutations are variable, and open lung biopsy and genetic testing are warranted early in the evaluation of children with a consistent clinical picture.
|
18024538 |
2008 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children.
|
17575475 |
2007 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease.Most ABCA3 mutations are private.
|
24871971 |
2014 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among the few molecularly defined entities, mutations in the gene encoding the ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) lipid transporter represent the main cause of inherited surfactant dysfunction disorders, a subgroup of ILD.
|
27177387 |
2016 |
|
Lung Diseases, Interstitial
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
|
18676873 |
2008 |
|
Lung Diseases, Interstitial
|
0.100 |
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 |