Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.
|
27984724 |
2016 |
Atrial septal defect 2
|
0.900 |
Biomarker
|
disease |
MGD |
Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo.
|
22589735 |
2012 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.
|
20347099 |
2010 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of GATA4 in a familial atrial septal defect.
|
20659440 |
2010 |
Atrial septal defect 2
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GATA4 sequence variants in patients with congenital heart disease.
|
18055909 |
2007 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
GATA4 sequence variants in patients with congenital heart disease.
|
18055909 |
2007 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of heart disease associated with murine and human GATA4 mutation.
|
17643447 |
2007 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
|
15810002 |
2005 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
|
12845333 |
2003 |
Atrial septal defect 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Atrial septal defect 2
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Atrial septal defect 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Atrial septal defect 2
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
Tetralogy of Fallot
|
0.800 |
Biomarker
|
disease |
BEFREE |
This review focuses on the well-characterized genes gata4, nkx2.5, jag1, foxc2, tbx5, and tbx1, which have been previously implicated in TOF.
|
29045289 |
2018 |
Tetralogy of Fallot
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF.
|
29762087 |
2018 |
Tetralogy of Fallot
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.
|
30152191 |
2018 |
Tetralogy of Fallot
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, the mutation reduced the synergistic activation between TBX20 and NKX2.5 as well as GATA4, two other transcriptional factors previously associated with various CHD, encompassing TOF.
|
28553164 |
2017 |
Tetralogy of Fallot
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the mutation significantly decreased the synergistic activation of a downstream target gene between HAND1 and GATA4, another cardiac core transcription factor associated with TOF.
|
27942761 |
2017 |
Tetralogy of Fallot
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variants in the GATA4 gene have been implicated in several congenital heart diseases (CHD), such as the tetralogy of Fallot (ToF), atrial septal defect (ASD), ventricular septal defect (VSD), atrioventricular septal defect (AVSD), and dilated cardiomyopathy (DCM).
|
26376067 |
2016 |
Tetralogy of Fallot
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay.
|
26490186 |
2016 |
Tetralogy of Fallot
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We used primary cells derived from the RV of infants with TOF to show a direct link between scaRNA levels and splice isoforms of several genes that regulate heart development (e.g., GATA4, NOTCH2, DAAM1, DICER1, MBNL1 and MBNL2).
|
25916634 |
2015 |
Tetralogy of Fallot
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In the developing heart, overexpression of HEY2 is predicted to cause decreased expression of the cardiac transcription factor GATA4 which, in turn, has been shown to cause tetralogy of Fallot.
|
25832314 |
2015 |
Tetralogy of Fallot
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients.
|
25928801 |
2015 |
Tetralogy of Fallot
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
GATA4 loss-of-function mutations underlie familial tetralogy of fallot.
|
24000169 |
2013 |
Tetralogy of Fallot
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
NKX2-5, GATA4 and HAND1 are essential for heart development, however, little is known regarding their epigenetic regulation in the pathogenesis of tetralogy of fallot (TOF).
|
24182332 |
2013 |