|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Heterozygous mutations in human protein coding genes NKX2-5 and RBM20 are associated with a wide array of pathological phenotypes some of which are sudden cardiac death, unexplained syncope and either combined or isolated congenital heart diseases such as dilated cardiomyopathy.
|
30611920 |
2020 |
|
Congenital heart disease
|
0.100 |
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
|
0.100 |
Biomarker
|
group |
BEFREE |
NKX2-5 and GATA4 were the first congenital heart disease-causing genes identified by linkage analysis.
|
30834692 |
2019 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We compared targets bound by these TFs as N- and C-terminal fusions with Dam, for both wild type (WT) NKX2-5 and mutant proteins mimicking those found in congenital heart disease.
|
28189763 |
2017 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, the roles of NKX2-5 63A>G polymorphism and 606G>C polymorphism in congenital heart disease (CHD) have been extensively studied, with conflicting results.
|
27033241 |
2016 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NKX2-5 mutations are associated with different forms of congenital heart disease.
|
25742962 |
2015 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our findings demonstrate that somatic NKX2-5 mutations do not represent an important aetiologic pathway in Chinese children with congenital heart disease.
|
26180509 |
2015 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.
|
26823822 |
2015 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To date, several disease-related mutations in NKX2-5, a cardiac-specific homeobox gene, have been documented in patients with a variety of congenital heart diseases (CHDs).
|
24880466 |
2014 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
|
24376681 |
2013 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
|
23661673 |
2013 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Two genetic variants in the coding region of NKX2-5, 63A>G (rs2277923) and 606G>C (rs3729753), have been investigated in the risk of congenital heart disease (CHD), although with inconsistent results.
|
23936479 |
2013 |
|
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 |
GeneticVariation
|
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 |
Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated with thyroid dysgenesis, among which the p.A119S variation.
|
23285148 |
2012 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Novel NKX2-5 mutations responsible for congenital heart disease.
|
22179962 |
2011 |
|
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 |
Although the cardiac NK-2 gene NKX2-5 is recognized as an important factor in cases of human congenital heart disease and heart development in vertebrates, the roles of the other cardiac NK-2 genes are less clear.
|
19967350 |
2010 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD.
|
20659440 |
2010 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD).
|
20725931 |
2010 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Investigation of somatic NKX2-5 mutations in congenital heart disease.
|
19181906 |
2009 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.
|
17891520 |
2008 |
|
Congenital heart disease
|
0.100 |
Biomarker
|
group |
BEFREE |
In Nkx2-5 hypomorphic mice, which recapitulate human congenital heart disease (CHD), OFT anomalies were also rescued by Smad1 deletion.
|
17350578 |
2007 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
NKX2-5 encodes a homeodomain-containing transcription factor with a major role in heart development, and mutations affecting this gene have been reported in individuals with congenital heart disease.
|
16418214 |
2006 |
|
Congenital heart disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
There are 28 germline NKX2-5 mutations identified in humans that are associated with congenital heart disease, and we recently reported multiple somatic mutations in patients with complex cardiac malformations.
|
15917268 |
2005 |