NKX2-5 Antibody

1. 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. PMID: 29972125
2. 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. PMID: 29716526
3. The findings identify HEY2 as a novel component of the NKX2-5 cardiac transcriptional network. PMID: 29636455
4. The vast majority of NKX2-5-mutated patients presented with Ostium Secundum or perimembranous/muscular Ventricular Septal defect. PMID: 27884258
5. 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). PMID: 27033241
6. 73C>T (R25C) and 63A>G (E21E) SNPs are probably related to thyroid hypoplasia PMID: 28749785
7. SIRT1 inhibits the transcriptional activity of Nkx2.5. PMID: 27819261
8. 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 PMID: 28139119
9. There is no difference in NKX2.5 and TBX5 gene mutations between in vitro fertilization and naturally conceived children with congenital heart disease. PMID: 28606231
10. 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 PMID: 28690296
11. 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 PMID: 27152669
12. 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 PMID: 27426723
13. 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. PMID: 28259982
14. I184F-NK2 homeobox 5 homeobox protein is a novel variant associated with congenital heart disease. PMID: 27855642
15. 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. PMID: 26679770
16. 187QNRRYKCKRQR197 was required for exclusive nuclear localization of NKX2.5. PMID: 27401138
17. NKX2.5 and GATA4 gene mutations might participate in the development of congenital heart disease and can promote bone marrow derived stroma cell differentiate into cardiomyocytes. PMID: 27154817
18. Data indicate that cells cultured on cardiac muscle laminin (LN)-based substrata in combination with stimulation of the canonical Wnt/beta-catenin pathway showed increased gene expression of ISL1, OCT4, KDR and NKX2.5. PMID: 27052314
19. There was no evidence of a role for NKX2-5 and GATA4 CNV in fetal CHD; therefore, these CNV may not be common in fetal CHD in China PMID: 25203927
20. Overexpression of Nkx2.5 significantly promotes the differentiation of human umbilical cord drived mesenchymal stem cells into cardiomyocytes. PMID: 26898431
21. Egyptian T-cell acute lymphoblastic leukemia cases seemed to have a different genetic pattern compared to other populations, with a lower incidence of TLX3/HOX11L2 and SIL/TAL but a higher incidence of NKX2-5 expression than recorded in Western countries PMID: 24571118
22. This study reveals a novel pathway that directly links ErbB4 and p38gamma to the transcriptional machinery of NKx2.5-GATA4 complex which is critical for cardiomyocyte formation during mammalian heart development. PMID: 26418945
23. the single nucleotide polymorphism rs2277923 of NKX2-5 gene contributes to the risk of sporadic congenital heart disease in Chinese Bai people. PMID: 26823822
24. the frequency of NKX2.5 gene mutations among the patient with Atrial septal defect: in 80% of the affected individuals two polymorphic sites are located at position 487 and 495. PMID: 26931254
25. The crystal structure and binding domains were identified in cardiac NKX2.5. PMID: 26926761
26. We describe in this study the mutational and expression analysis of the NKX2.5 gene in nonsyndromic CHD patients PMID: 26273787
27. NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia. PMID: 26421664
28. Our findings demonstrate that somatic NKX2-5 mutations do not represent an important aetiologic pathway in Chinese children with congenital heart disease. PMID: 26180509
29. Combined expression of NKX2-5, HAND1, and NOTCH1 coordinately contribute to cardiac malformations in Hhypoplastic left heart syndrome. PMID: 25050861
30. The novel DSV (1500G>C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population. PMID: 26297999
31. highly expressed in racially disparate fashion (Caucasians > African Americans) in a subset of early onset and severe preeclampsia placentae PMID: 24987805
32. Nkx2-5 (and Isl1) regulate the specification of cardiac progenitor cells and acquisition of cardiomyocyte subtype identity. PMID: 25524439
33. Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. PMID: 25524324
34. NKX2-5 is thus responsible for dominant familial ASD even in consanguineous populations, and a wide genetic and phenotypic diversity is characteristic of NKX2-5 mutations in the Lebanese population. PMID: 25742962
35. The MESP1-NKX2-5 hESC reporter line allows us to identify molecular cues crucial for specification and expansion of human cardiac mesoderm and early progenitors and their differentiation to specific cardiovascular derivatives. PMID: 25187301
36. Results show that NKX2-5 mRNA levels correlate with muscle histopathology in mice and humans and find that NKX2-5 levels modify disease phenotypes in mice with RNA toxicity. PMID: 25168381
37. The findings expand the mutational spectrum of NKX2-5 linked to DCM and provide novel insight into the molecular mechanisms underlying DCM, contributing to the antenatal prophylaxis and allele-specific management of DCM. PMID: 25503402
38. Nkx2.5 and p53 synergistically activate the promoter of the striated muscle stress responsive transcriptional cofactor Ankrd2, involved in coordination of proliferation and apoptosis during myogenic differentiation. PMID: 25677450
39. Exome sequencing demonstrated a frameshift mutation c.397_400del (p.P133GfsTer 42) in NKX2.5 in a patient with heterotaxy. PMID: 25118008
40. tRNA suppressors suppress NKX2.5 premature stop codon and induce functional protein expression. PMID: 25881702
41. The findings of this review strongly suggest a new association of this NKX2-5 mutation with SCD from ventricular arrhythmia. PMID: 24880466
42. The hematopoietic/erythroid cell fate is suppressed via Nkx2-5 during mesodermal fate determination. PMID: 21464046
43. Early cardiac marker gene Nkx2.5 levels in peripheral blood mononuclear cells reflect severity in stable coronary artery disease. PMID: 24681789
44. this study is the first to link an NKX2.5 loss-of-function mutation to enhanced susceptibility to human BAV, providing novel insight into the molecular mechanism of BAV PMID: 25438918
45. The crystallization and X-ray analysis of the NKX2.5 homeodomain shows that it forms a complex with DNA from atrial natriuretic factor. PMID: 24817716
46. Art27 interacts with GATA4, FOG2 and NKX2.5 and is a novel co-repressor of cardiac genes. PMID: 24743694
47. The findings expand the spectrum of NKX2-5 mutations linked to AF and provide additional evidence that dysfunctional NKX2-5 may confer vulnerability to AF, suggesting the potential benefit for the early prophylaxis and personalized treatment of AF. PMID: 24782644
48. Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, is associated with human congenital heart disease. PMID: 24376681
49. Functional analysis showed that the GATA4 mutants were consistently associated with significantly decreased transcriptional activity and markedly reduced the synergistic activation between GATA4 and NKX2-5 in patients with dlated cardiomyopathy. PMID: 25017055
50. DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot PMID: 24182332

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HGNC: 2488

OMIM: 108900

KEGG: hsa:1482

STRING: 9606.ENSP00000327758

UniGene: Hs.54473