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NKX2.5 mutations are highly rare in Congenital heart disease patients. However, in silico analysis proves that c.95 A > T missense mutation in NKX2.5 gene is probably pathogenic and may be contributing to the risk of sporadic CHD in the Iranian population
Two rare variants in NKX2-5 and FLNC, carried by 1 in 2400 Icelanders, cause familial Dilated Cardiomyopathy (DCM) in Iceland. These genes have recently been associated with DCM. Given the serious consequences of these variants, we suggest screening for them in individuals with DCM and their family members, with subsequent monitoring of carriers, offering early intervention.
Single nucleotide variations are the prominent genetic variations of NKX2-5 in Chinese patients with sporadic atrial septal defect. The SNPs rs2277923 and rs3729753 are prominent single nucleotide variations (SNVs) in Chinese patients with sporadic atrial septal defect.
Data indicate that Sspn is an Nkx2-5 modifier gene. Complete loss of Sspn function does not cause heart defects but does increase the incidence of muscular ventricular septal defects (VSDs) in combination with an Nkx2-5 mutation.
NKX2-5 is genetically associated with scleroderma, pulmonary hypertension, and fibrosis. Functional evidence revealed a regulatory mechanism that results in NKX2-5 transcriptional activation in pulmonary artery smooth muscle cells through the interaction of an upstream promoter and a novel downstream enhancer.
Two SNPs of NKX2-5 (rs2277923, rs28936670) are associated with cardiac septal defect in Egyptian children.
Atrial septal defect (ASD) may be favored by consanguineous marriage and NKX2-5 variant rate in ASD patients may be affected by ethnicity. High level of maternal miscarriage and sibling sudden death suggests potential non-sporadic nature as result of putative genetic defect.
A novel heterozygous missense mutation (c.907G > A, p.V303I) of NKX2-5 gene was identified in a patient with tetralogy of Fallots. Functional assay revealed that this mutant was associated with significantly reduced transcriptional activity. In addition, we found two known single-nucleotide polymorphisms (SNPs) (rs2277923, rs3729753) in NKX2-5 and two known SNPs (rs56166237, rs3729856) in GATA4.
The single nucleotide polymorphisms (SNPs) of NKX2.5, GATA4, and TBX5 are highly associated with congenital heart diseases in the Chinese population, but not significant in the SNPs of FOG2.
NKX2.5 is expressed in most PTC samples analyzed and its presence correlates to better prognosis of PTC. In vitro, NKX2.5 overexpression reduces the expression of thyroid differentiation markers and increases ROS production.
The findings identify HEY2 as a novel component of the NKX2-5 cardiac transcriptional network.
The vast majority of NKX2-5-mutated patients presented with Ostium Secundum or perimembranous/muscular Ventricular Septal defect.
findings suggested that NKX2-5 63A>G polymorphism and 606G>C polymorphism may not be implicated in the pathogenesis of congenital heart disease (Meta-analysis).
73C>T (R25C) and 63A>G (E21E) SNPs are probably related to thyroid hypoplasia
SIRT1 inhibits the transcriptional activity of Nkx2.5.
PDLIM5 isoforms occurred simultaneously to the onset of expression of the early cardiac transcription factor NKX2.5, known to play a key role in cardiac development
There is no difference in NKX2.5 and TBX5 gene mutations between in vitro fertilization and naturally conceived children with congenital heart disease.
This study is the first to associate NKX2-5 loss-of-function mutations with enhanced susceptibility to sporadic DCM, which provides novel insight into the molecular etiology underpinning DCM
Mapping nsSNPs in genes such as NKX 2-5 would provide valuable information about individuals carrying these polymorphisms, where such variations could be used as diagnostic markers
Hence, the variant distribution of NKX2-5, GATA4 and TBX5 are tightly associated with particular Congenital heart disease subtypes. Further structure-modelling analysis revealed that these mutated amino acid residuals maintain their DNA-binding ability and structural stability
confirms that our models are the first murine genetic models to our knowledge to present all spectra of clinically relevant adult congenital heart disease phenotypes generated by NKX2-5 mutations in patients
Postnatal cardiac injury reactivates a cardiac-specific Nkx2.5 enhancer element known to specifically mark myocardial progenitor cells during embryonic development.
To determine the lineage contribution of the Nkx2.5+ cardiomyoblasts, we generated a doxycycline suppressible Cre transgenic mouse under the regulation of the Nkx2.5 enhancer and showed that neonatal Nkx2.5+ cardiomyoblasts mature into cardiomyocytes in vivo.
The cardiac-specific transcription factor Csx/Nkx2.5 played an important role in the induction of cardiac hypertrophy and cardiomyocyte injury, and the action was associated with ROS-HIF-1alpha transcriptional regulation and DNA hypomethylation modification.
data showed that heterozygosity for the R141C mutation results in disruption of the cellular distribution of Nkx2-5 protein, a transient reduction in cardiomyogenesis that may disrupt the early patterning of the heart, and this, in turn, affects the intricate orchestration of signaling pathways leading to downregulation of Bone morphogenetic protein (BMP) and Notch signaling.
Study shows that deletion of the gene encoding the transcription factor Nkx2-5 at critical steps during trabecular development recapitulates pathological features of hypertrabeculation, providing the first model of ventricular non-compaction cardiomyopathy in adult mice.
Mouse cardiac progenitor cells fate transitions are associated with distinct open chromatin states critically depending on Isl1 and Nkx2-5 expression.
Deletion of the Ahr gene in cardiomyocytes protects males from heart dysfunction due to NKX2.5 haploinsufficiency.
Taken together, the authors identified a hemogenic angioblast cell lineage characterized by transient Nkx2.5 expression that contributes to hemogenic endothelium and endocardium, suggesting a novel role for Nkx2.5 in hemoangiogenic lineage specification and diversification.
Nkx2-5 genetically interacts with Xrn2 because Nkx2-5(+/-)Xrn2(+/-), but neither Nkx2-5(+/-)nor Xrn2(+/-), newborns exhibited a defect in ventricular septum formation, suggesting that the association between Nkx2-5 and Xrn2 is essential for heart development.
the present study demonstrates that mice with the R141C point mutation in the Nkx2.5 allele phenocopies humans with the NKX2.5 R142C point mutation.
Using a combination of mouse genetics, biochemistry, molecular and cell biology, we demonstrate that Nkx2-5 regulates the gene encoding Kcnh2 channel and others, shedding light on potential mechanisms generating electrical abnormalities observed in patients bearing NKX2-5 dysfunction and opening opportunities to the study of novel therapeutic targets for anti-arrhythmogenic therapies
In the absence of NKX2-5 (or Smad-6), a severe form of rheumatic heart disease is observed.
Study reports extensive and complex interdependent genomic occupancy of TBX5, NKX2-5, and the zinc finger TF GATA4 coordinately controlling cardiac gene expression, differentiation, and morphogenesis.
Sequential binding of MEIS1 and NKX2-5 on the Popdc2 gene demonstrate a mechanism for spatiotemporal regulation of enhancers during cardiogenesis.
The model proposed will help to elucidate the molecular basis for disease causing mutations in GATA4 and NKX2-5 and may be relevant to other members of the GATA and NK classes of transcription factors.
MSCs thus form a 'mechanical memory' of rigidity by progressively suppressing NKX2.5, thereby elevating SMA in a scar-like state.
the Shox2-Nkx2-5 antagonistic mechanism primes the pacemaker cell fate in the pulmonary vein myocardium and sinoatrial node
Findings implicate a novel, temporal-specific role of Mzf1 in embryonic heart development and show that Mzf1 bounds directly to the Nkx2.5 during murine embryonic stem cell differentiation.
A heterozygous Nkx2-5 missense mutation in the homeodomain demonstrates a high penetrance of diverse cardiac anomalies, similar to or more profound than those observed in human patients.
results indicate that during zebrafish cardiogenesis, Foxc1a is active directly upstream of nkx2.5.
Nkx2.5 signaling via activation of Nkx2.5-Calr-p53 signaling pathway results in cardiac dysfunction and hyperglycemia-induced cardiomyopathy.
Nkx2-5 and nkx2.7 genes restrict proliferation of heart field progenitors in the outflow tract, delimit the number of progenitors at the venous pole and pattern the sinoatrial node acting through Isl1 repression.
These findings validate HRV analysis as a useful quantitative tool for assessment of cardiac health in zebrafish and underscore the importance of nkx2.5 in maintaining normal heart rate and HRV during early conduction system development.
Nkx2.5 is required for proper craniofacial development in zebrafish and acts in part by upregulating ece1 expression.
An early requirement for nkx2.5 ensures the first and second heart field ventricular identity and cardiac function into adulthood.
Flanking a transgenic construct by chicken HS4 insulation sequences from beta globin leads to overall increase in the expression of nkx2.5:mRFP.
studies reveal the heart field origin of PAA endothelium and attribute a new vasculogenic function to the cardiac transcription factor Nkx2.5 during great vessel precursor development
findings show that the homeodomain transcription factors Nkx2.5 and Nkx2.7 are necessary to sustain ventricular chamber attributes through repression of atrial chamber identity.
Embryos injected with an nkx2.5 morpholino exhibited SHF phenotypes caused by compromised progenitor cell proliferation. Co-injecting low doses of nkx2.5 and ltbp3 morpholinos revealed a genetic interaction between these factors.
The cardiac connexin Ecx and its downstream signaling are crucial for establishing nkx2.5 expression, which in turn promotes unidirectional, parallel alignment of myofibrils and the subsequent proper heart morphogenesis.[
nkx genes are essential to establish the original dimensions of the linear heart tube.Nkx genes regulate heart tube extension and exert differential effects on ventricular and atrial cell number.
redundant activities of Nkx2.5 and Nkx2.7 are required for cardiac morphogenesis, but Nkx2.7 plays a more critical function, regulating the expressions of tbx5 and tbx20 through the maturation stage
Nkx2-5 mutations cause heart defects in Xenopus laevis
HIF-1alpha-regulated nkx2.5 expression is required for heart development in Xenopus
we would like to suggest that FGF expressed in anterior neural ectoderm is a major inducer of Nkx2.5 expression in neighboring cells
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants.
NK2 transcription factor related, locus 5
, cardiac-specific homeobox 1
, homeobox protein CSX
, homeobox protein NK-2 homolog E
, homeobox protein Nkx-2.5
, tinman paralog
, Drosophila NK2 transcription factor related, locus 5
, cardiac-specific homeobox
, tinman homeobox homolog
, NK2 transcription factor related 5 b
, NK2 transcription factor related, locus 5 (Drosophila)
, transcription factor NKX2.5
, NK2 transcription factor locus 5-like
, Nkx2.5 protein