Congenital heart disease
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
|
27426723 |
2017 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
|
31115957 |
2019 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in cardiac transcription factor genes, such as GATA-4, NKX2-5 and TBX5 genes, have been associated to the patients with familial and isolated congenital heart disease (CHD).
|
22885181 |
2012 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
NKX2-5 and GATA4 were the first congenital heart disease-causing genes identified by linkage analysis.
|
30834692 |
2019 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
GATA4 is an important transcription factor involved in cardiac development and a well-known candidate gene associated with congenital heart disease (CHD).
|
30590232 |
2019 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
The detection rate was 10/48 (20.8 per cent) in the presence of VSD, ASD2 or combined ASD2 + VSD, the detection rate was 29/39 (74.3 per cent) in the presence of other forms of congenital heart disease.
|
9742568 |
1998 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
GATA4 transgenic mice as an in vivo model of congenital heart disease.
|
25873328 |
2015 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
The human transcription factors (TFs) GATA4, NKX2.5 and TBX5 form part of the core network necessary to build a human heart and are involved in Congenital Heart Diseases (CHDs).
|
21990232 |
2012 |
Congenital heart disease
|
0.200 |
Biomarker
|
group |
BEFREE |
Results showed that NKX2.5, GATA4, and FOG2 were susceptibility genes of congenital heart disease.
|
27118988 |
2016 |
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 |