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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).
SIRT1 (Montrer SIRT1 Protéines) inhibits the transcriptional activity of Nkx2.5.
PDLIM5 (Montrer PDLIM5 Protéines) 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 (Montrer TBX5 Protéines) 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
Hence, the variant distribution of NKX2-5, GATA4 (Montrer GATA4 Protéines) and TBX5 (Montrer TBX5 Protéines) 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
The results of the present study expand the spectrum of NKX2.5 mutations linked to congenital atrial septal defect and atrioventricular block, and indicated that NKX2.5 lossoffunction mutations are an uncommon cause of congenital atrial septal defect and atrioventricular block in humans.
I184F-NK2 homeobox 5 homeobox protein is a novel variant associated with congenital heart disease.
NKX2-5 mutations mainly occur in familial congenital heart defects, the signature phenotype is atrial septal defects with conduction disturbances and mutation carriers are at increased risk of sudden cardiac death.
Deletion of the Ahr (Montrer AHR Protéines) 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 (Montrer XRN2 Protéines) because Nkx2-5(+/-)Xrn2 (Montrer XRN2 Protéines)(+/-), but neither Nkx2-5(+/-)nor Xrn2 (Montrer XRN2 Protéines)(+/-), newborns exhibited a defect in ventricular septum formation, suggesting that the association between Nkx2-5 and Xrn2 (Montrer XRN2 Protéines) 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 (Montrer KCNH2 Protéines) 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 (Montrer SMAD6 Protéines)), a severe form of rheumatic heart disease is observed.
Study reports extensive and complex interdependent genomic occupancy of TBX5 (Montrer TBX5 Protéines), NKX2-5, and the zinc finger TF GATA4 (Montrer GATA4 Protéines) coordinately controlling cardiac gene expression, differentiation, and morphogenesis.
Sequential binding of MEIS1 (Montrer MEIS1 Protéines) and NKX2-5 on the Popdc2 (Montrer POPDC2 Protéines) 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 (Montrer SMN1 Protéines) in a scar-like state.
Nkx2.5 signaling via activation of Nkx2.5-Calr (Montrer CALR Protéines)-p53 (Montrer TP53 Protéines) 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 (Montrer ISL1 Protéines) 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 (Montrer ECE1 Protéines) 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 (Montrer HBB Protéines) 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 (Montrer GJA1 Protéines) phenotypes caused by compromised progenitor cell proliferation. Co-injecting low doses of nkx2.5 and ltbp3 (Montrer LTBP3 Protéines) 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.[
Nkx2-5 mutations cause heart defects in Xenopus laevis
HIF-1alpha (Montrer HIF1A Protéines)-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