|
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 |
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 |
Biomarker
|
group |
BEFREE |
Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease.
|
29566461 |
2018 |
|
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
The remarkable and selective regeneration of ABCA3-sufficient AT2 progenitor cells provides plausible approaches for future correction of ABCA3 and other genetic disorders associated with surfactant deficiency and acute interstitial lung disease.
|
29263307 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease.
|
23846195 |
2014 |
|
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 |
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 |
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 |
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 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
Mutations in the gene for adenosine triphosphate-binding cassette transporter A3 (ABCA3) have been reported in infants and children with fatal surfactant deficiency and interstitial lung disease.
|
21464189 |
2011 |
|
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 |
Biomarker
|
group |
BEFREE |
Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population.
|
19220077 |
2009 |