Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We have performed High resolution melting (HRM) mutation scanning of GATA4 coding exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57 ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group.
|
29377543 |
2018 |
Atrial Septal Defects
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Furthermore, the mutation disrupted the synergistic activation between NKX2.5 and GATA binding protein 4, another cardiac core transcription factor associated with ASD.
|
28259982 |
2017 |
Atrial Septal Defects
|
0.400 |
PosttranslationalModification
|
group |
BEFREE |
Our study broadens the mutation spectrum of the GATA4 gene and reveals for the first time a mutation at the methylation position of GATA4 associated with ASD.
|
26376067 |
2016 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients.
|
25928801 |
2015 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our previous study indicated that 8 patients from a family with a history of congenital heart disease had simple atrial septal defect (ASD) and carried the same mutation at codon 310 in the GATA4 gene.
|
25873328 |
2015 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NKX2.5, GATA4, and TBX5 contribute to congenital ASD.
|
24498650 |
2014 |
Atrial Septal Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.
|
24866383 |
2014 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we identified a mutation in the GATA4 Kozak sequence that likely contributes to the pathogenesis of ASD.
|
25099673 |
2014 |
Atrial Septal Defects
|
0.400 |
Biomarker
|
group |
MGD |
Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo.
|
22589735 |
2012 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in multiple members of the evolutionarily conserved cardiac transcription factor network, including GATA4, cause or predispose to ASDII and PFO.
|
21673957 |
2011 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this study, the entire coding region of GATA4, a gene encoding a zinc-finger transcription factor crucial to embryogenesis, was initially sequenced in 120 unrelated patients with ASD.
|
21373748 |
2011 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In addition, we did not identify any mutations in GATA4 in three familial atrial septal defects and two familial ventricular septal defects.
|
19915893 |
2010 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A novel non-synonymous variant, c.839C>T (T280M) in GATA4, was identified and segregated with all the ASD patients within this Chinese family.
|
20659440 |
2010 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, we examine a Chinese family with isolated ASD to find out whether there is any mutation in NKX2.5 or GATA4 accounting for the etiology.
|
20347099 |
2010 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Finally, useful information is yet available with regard to genes causing isolated CHDs in individuals who do not have a genetic syndrome (an example is the mutation of NKX2.5 and GATA4 genes causing atrial septal defect).
|
17255809 |
2007 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Five mutations, including two GATA4 and three NKX2.5 mutations, were identified in 31.3% of the probands with ASD, and three of them were novel.
|
15810002 |
2005 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
LHGDN |
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.
|
15235040 |
2004 |
Atrial Septal Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The cardiac transcription factor GATA4 has not previously been implicated in a human disorder but a recent paper by Garg et al. provides evidence of mutations in GATA4 that cause atrial septal defects.
|
14557051 |
2003 |
Atrial Septal Defects
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|