Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
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 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
Biomarker
|
disease |
BEFREE |
Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease.
|
29566461 |
2018 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations of ABCA3 has been associated with fatal respiratory distress syndrome and interstitial lung disease (ILD) in children.
|
28642621 |
2017 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
Lung disease caused by ABCA3 mutations.
|
27516224 |
2017 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using a tagging SNP (tSNP) strategy and real-time polymerase chain reaction, we genotyped four tSNPs (i.e., rs150929, rs4787273, rs11867129, and rs17135889) and one coding SNP (p.F353F) of the ABCA3 gene in preterm infants with RDS (n = 83) and without RDS (n = 83).We predicted the haplotypes.
|
26522252 |
2016 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease.
|
26780485 |
2016 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to functionally characterize two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome with unclear pathogenicity in a genetically versatile model system.
|
27374344 |
2016 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.
|
25031143 |
2014 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
Biomarker
|
disease |
BEFREE |
ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
|
24269975 |
2014 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast to rare, nonsynonymous ABCA3 mutations, synonymous ABCA3 variants do not increase the risk for neonatal RDS among term and late-preterm infants of European or African descent.
|
24657120 |
2014 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast to lethal neonatal RDS resulting from homozygous or compound heterozygous ABCA3 mutations, single ABCA3 mutations are overrepresented among European-descent infants ≥34 weeks' gestation with RDS and account for ~10.9% of the attributable risk among term and late preterm infants.
|
23166334 |
2012 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD.
|
22068586 |
2012 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to analyze eight single-nucleotide polymorphisms (SNPs) of the ABCA3 gene, and to assess the ABCA3 gene as a candidate gene for susceptibility to RDS in newborns.
|
22800827 |
2012 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
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 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.
|
22707629 |
2011 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
Biomarker
|
disease |
BEFREE |
The results are suggestive of an association of a synonymous SNP in the ABCA3 gene with a prolonged course of respiratory distress syndrome in very premature infants and serve as a reference for further population-based studies of ABCA3.
|
18246475 |
2008 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We did not identify other loss of function mutations in ABCA3 among patients with E292V that would account for their RDS.
|
18317237 |
2008 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
Biomarker
|
disease |
BEFREE |
Ventilatory treatment of neonatal respiratory distress often results in bronchopulmonary dysplasia from congenital surfactant deficiency due to mutants of transporter protein ABCA3.
|
18603241 |
2008 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene.
|
17429902 |
2007 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCA3, a member of the ABCA subfamily with unknown function, lead to fatal respiratory distress syndrome (RDS) in the newborn.
|
16415354 |
2006 |
Respiratory Distress Syndrome, Newborn
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data provide evidence that ABCA3 mutations are associated not only with a deficiency of ABCA3 but also with an abnormal processing and routing of SP-B and SP-C, leading to severe alterations of surfactant homeostasis and respiratory distress syndrome.
|
16728712 |
2006 |