Congenital Heart Defects
|
0.300 |
Biomarker
|
group |
BEFREE |
In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects.
|
20592452 |
2010 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
In summary, the Gata4 G295S mutation functions as a hypomorph in vivo and leads to defects in cardiomyocyte proliferation during embryogenesis, which may contribute to the development of congenital heart defects in humans.
|
22589735 |
2012 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Congenital heart defects also are common in patients with GATA4 mutations and deletions, but the role of GATA4 in the developing human pancreas is unproven.
|
24696446 |
2014 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Mice deficient for one copy of the Gata4 gene have been described with CDH and heart defects suggesting mutations in Gata4 can cause the phenotype in mice.
|
23696316 |
2013 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Mutations in GATA4 are thought to be responsible for the congenital heart defects reported in association with this chromosomal deletion, and several familial point mutations leading to amino acid substitutions have also been identified.
|
21834050 |
2011 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect.
|
31513339 |
2019 |
Congenital Heart Defects
|
0.300 |
Biomarker
|
group |
BEFREE |
Congenital heart defects are among the most common developmental anomalies, affecting 1% of newborns, and the GATA4 gene is less frequently involved in these disorders.
|
20854389 |
2010 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
In accordance with previous findings on GATA4 mutation screening and in vitro experiments, this study confirms that GATA4 M310V mutation may lead to the development of the congenital heart defect, ASD.
|
25873328 |
2015 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Our previous study reported a heterozygous GATA4 c.1306C>T (p.H436Y) mutation in four Chinese infants with congenital heart defects.
|
31322241 |
2019 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
|
21276881 |
2011 |
Congenital Heart Defects
|
0.300 |
Biomarker
|
group |
BEFREE |
Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)<sup>1</sup>, or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN).
|
30061737 |
2018 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
|
12845333 |
2003 |
Congenital Heart Defects
|
0.300 |
Biomarker
|
group |
RGD |
This study was designed to test the hypothesis that GATA-4 gene methylation would lead to congenital heart defects in vitamin A-deficient offspring.
|
23333085 |
2013 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
These findings suggest that C-terminus of GATA4 is critical to maintain DNA binding, and genetic mutations in this region may affect genes important for myocyte apoptosis and differentiation associated with congenital heart defects.
|
23745586 |
2013 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
|
20874241 |
2010 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
The mutations in GATA4 gene induce inherited atrial and ventricular septation defects, which is the most frequent forms of congenital heart defects (CHDs) constituting about half of all cases.
|
29377543 |
2018 |
Congenital Heart Defects
|
0.300 |
Biomarker
|
group |
BEFREE |
Haploinsufficiency of GATA4 is strongly associated with congenital heart defects (CHD).
|
21933911 |
2011 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Various GATA4 mutations are reported in familial as well as sporadic cases of congenital heart defects (CHDs).
|
30152191 |
2018 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
Duplication of the GATA-binding protein 4 gene (GATA4) in this patient and others with and without heart defects, suggests it is a dosage-sensitive gene with variable penetrance.
|
16077733 |
2005 |
Congenital Heart Defects
|
0.300 |
GeneticVariation
|
group |
BEFREE |
This study suggests that GATA4 and NKX2.5 missense mutations may be associated with congenital heart defects in pediatric Chinese patients.
|
21110066 |
2010 |
Congenital Heart Defects
|
0.300 |
Biomarker
|
group |
BEFREE |
The responsible gene for the heart defects in this syndrome has been identified as GATA4 on 8p23.1.
|
18393291 |
2008 |