|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo.
|
22589735 |
2012 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial ASDs and other forms of congenital heart disease may be seen with mutations in associated myocardial transcription factors NKX2.5, GATA4, TBX6, along with conduction disorders such as AV block.
|
30305954 |
2018 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
|
17253934 |
2006 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
GATA4 mutations in 486 Chinese patients with congenital heart disease.
|
18672102 |
2009 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in GATA4 have been related to human congenital heart diseases (CHDs) in several studies, whereas mutations in GATA6 have only recently been reported in patients with persistent truncus arteriosus.
|
20631719 |
2010 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results suggest that genomic GATA4 and TFAP2B missense mutations may be associated with nonfamilial congenital heart disease with diverse clinical phenotypes in patients with congenital heart disease from southern China.
|
22959235 |
2013 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Common variants in 3'UTR of the GATA4 gene jointly interact, affecting the congenital heart disease susceptibility, probably by altering microRNA posttranscriptional regulation.
|
27118528 |
2016 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
GATA4 sequence variants in patients with congenital heart disease.
|
18055909 |
2007 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Search of Somatic Mutations of NKX2-5 and GATA4 Genes in Chinese Patients with Sporadic Congenital Heart Disease.
|
30121862 |
2019 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Dominant GATA4 mutations cause congenital heart disease (CHD), specifically atrial and atrioventricular septal defects (ASDs and AVSDs).
|
28167794 |
2017 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.
|
17352393 |
2007 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
|
20592452 |
2010 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart disease.
|
28843068 |
2017 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Genetic mutations in GATA4, a transcriptional factor, have been found to cause congenital heart diseases.
|
23745586 |
2013 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The cardiac transcription factor GATA4 is essential for cardiac development, and mutations in this gene have been implicated in a wide variety of congenital heart diseases in both animal models and humans.
|
24041700 |
2013 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Identification of functional mutations in GATA4 in patients with congenital heart disease.
|
23626780 |
2013 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Three GATA4 gene mutations, 99 G>T, 487 C>T, and 354 A>C, have been reported in congenital heart disease (CHD).
|
28471988 |
2017 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
|
27391137 |
2016 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease.
|
27154817 |
2016 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
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 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We then asked if GATA4 mutation occurs in humans with these forms of congenital heart disease (CHD).
|
17643447 |
2007 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
c.620C>T mutation in GATA4 is associated with congenital heart disease in South India.
|
25928801 |
2015 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India.
|
21631294 |
2011 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Using induced pluripotent stem cells, Ang et al. elucidate how a mutation in the transcription factor GATA4 causes congenital heart disease.
|
27984717 |
2016 |
|
Congenital heart disease
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Functional mutant GATA4 identification and potential application in preimplantation diagnosis of congenital heart diseases.
|
29111206 |
2018 |