Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
Show all synonyms
Select your origin of interest
PDLIM5 (show PDLIM5 Proteins) 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 (show TBX5 Proteins) 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 (show GATA4 Proteins) and TBX5 (show TBX5 Proteins) 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.
187QNRRYKCKRQR197 was required for exclusive nuclear localization of NKX2.5.
NKX2.5 and GATA4 (show GATA4 Proteins) gene mutations might participate in the development of congenital heart disease and can promote bone marrow derived stroma cell differentiate into cardiomyocytes.
Data indicate that cells cultured on cardiac muscle laminin (LN)-based substrata in combination with stimulation of the canonical Wnt (show WNT2 Proteins)/beta-catenin (show CTNNB1 Proteins) pathway showed increased gene expression of ISL1 (show ISL1 Proteins), OCT4 (show POU5F1 Proteins), KDR (show KDR Proteins) and NKX2.5.
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 (show KCNH2 Proteins) 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 (show SMAD6 Proteins)), a severe form of rheumatic heart disease is observed.
Study reports extensive and complex interdependent genomic occupancy of TBX5 (show TBX5 Proteins), NKX2-5, and the zinc finger TF GATA4 (show GATA4 Proteins) coordinately controlling cardiac gene expression, differentiation, and morphogenesis.
Sequential binding of MEIS1 (show MEIS1 Proteins) and NKX2-5 on the Popdc2 (show POPDC2 Proteins) 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 (show SMN1 Proteins) in a scar-like state.
the Shox2 (show SHOX2 Proteins)-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 (show ZSCAN1 Proteins) in embryonic heart development and show that Mzf1 (show ZSCAN1 Proteins) 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.
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 (Drosophila)
, NK2 transcription factor locus 5-like
, Nkx2.5 protein
, 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
, transcription factor NKX2.5
, Drosophila NK2 transcription factor related, locus 5
, cardiac-specific homeobox