|
Congenital heart disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
TBX20 is a crucial transcription factor for embryonic development, and its deficiency is associated with congenital heart disease.
|
29545372 |
2018 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the transcription factor TBX20 (T-box 20) are associated with congenital heart disease.
|
29903739 |
2018 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease.
|
28525297 |
2017 |
|
Congenital heart disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Since a number of studies have implicated mutations of the transcription factor TBX20 in congenital heart diseases, we investigated the underlying mechanisms, using an unbiased systems-based screen to identify novel, cardiac-specific binding partners.
|
28945738 |
2017 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The observations of the current study expand the mutation spectrum of TBX20 associated with DCM and congenital heart disease (CHD), which provide novel insight into the molecular mechanisms underlying DCM and CHD, suggesting the potential implications for the effective and personalized treatment of these diseases.
|
27510170 |
2016 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease.
|
27323105 |
2016 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The relevance of TBX20 gene in heart development has been demonstrated in many animal models, but there are few works that try to elucidate the effect of TBX20 mutations in human congenital heart diseases.
|
25834824 |
2015 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Previous studies have identified associations of two SNPs in the T-box DNA-binding domain of TBX20 with congenital heart disease (CHD) in two Caucasian families, but the associations of TBX20 mutations underlying the more common populations with CHD remain to be uncovered.
|
25487630 |
2015 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
|
25183037 |
2014 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Human mutations in or variants of TBX20 are associated with congenital heart disease, cardiomyopathy, and arrhythmias.
|
22080862 |
2011 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.
|
18834961 |
2009 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Interestingly, genetic screening of patients with dilated cardiomyopathy and congenital heart disease has revealed TBX20 variants in three sporadic and two familial cases that were not found in controls.
|
19074289 |
2008 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
In summary, we provide first insights into the regulation of TBX20 and show its potential for human congenital heart diseases.
|
18275040 |
2008 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
TBX20 interacts physically, functionally, and genetically with other cardiac transcription factors, including NKX2-5, GATA4, and TBX5, mutations of which cause congenital heart disease (CHD).
|
17668378 |
2007 |