|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition to two polymorphisms of NKX2-5 (rs2277923, rs28936670) variant in the cardiac septal defect, two variants in GATA4 (rs368418329, rs56166237) and one variant in TBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease.
|
30834692 |
2019 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population.
|
28761722 |
2017 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The cardiac T-box transcription factor TBX5 is crucial for proper cardiovascular development, and mutations in TBX5 have been associated with various congenital heart diseases and arrhythmias in humans.
|
25725155 |
2015 |
|
Congenital heart disease
|
0.100 |
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
|
0.100 |
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
|
0.100 |
AlteredExpression
|
group |
BEFREE |
A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners.
|
22449847 |
2012 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To address the possible involvement of regulatory variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the activity of TBX5, a dosage-dependent transcription factor with well-defined roles in the heart and limb development that has been associated with the Holt-Oram syndrome (heart-hand syndrome), a condition that affects 1/100 000 newborns.
|
22543974 |
2012 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.
|
22011241 |
2012 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among the most studied are the transcription factors GATA4, TBX5, and NKX2-5, which are central to cardiac development and mutations of which are associated with congenital heart disease.
|
20433683 |
2011 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese.
|
19187613 |
2009 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Tbx5-dependent pathway regulating diastolic function in congenital heart disease.
|
18378906 |
2008 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
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 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the TBX5 gene.
|
16183809 |
2005 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
This review summarizes recent developments in the study of TBX5 as it relates to congenital heart disease and the pathology of HOS.
|
15096952 |
2004 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results suggest a possible role of somatically occurring TBX5 mutations in congenital heart disease.
|
15221798 |
2004 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Efforts to understand the intracellular pathway of TBX5 would provide a unique window onto the molecular basis of common congenital heart diseases and limb malformations.
|
12436037 |
2002 |