NKX2-5 Antibody

• Single nucleotide polymorphisms (SNPs) in NKX2.5, GATA4, and TBX5 have been strongly linked to congenital heart diseases in the Chinese population, while SNPs in FOG2 do not show significant associations. PMID: 29972125
• NKX2.5 is expressed in a majority of PTC samples analyzed, and its presence correlates with a better prognosis for PTC. In vitro studies demonstrate that NKX2.5 overexpression reduces the expression of thyroid differentiation markers and increases ROS production. PMID: 29716526
• Research has identified HEY2 as a novel component of the NKX2-5 cardiac transcriptional network. PMID: 29636455
• The vast majority of patients with NKX2-5 mutations presented with Ostium Secundum or perimembranous/muscular Ventricular Septal defect. PMID: 27884258
• Meta-analyses suggest that NKX2-5 63A>G polymorphism and 606G>C polymorphism may not be implicated in the pathogenesis of congenital heart disease. PMID: 27033241
• 73C>T (R25C) and 63A>G (E21E) SNPs are likely associated with thyroid hypoplasia. PMID: 28749785
• SIRT1 inhibits the transcriptional activity of Nkx2.5. PMID: 27819261
• PDLIM5 isoforms appear concurrently with the onset of expression of the early cardiac transcription factor NKX2.5, known for its crucial role in cardiac development. PMID: 28139119
• No difference in NKX2.5 and TBX5 gene mutations has been observed between in vitro fertilization and naturally conceived children with congenital heart disease. PMID: 28606231
• This study is the first to link NKX2-5 loss-of-function mutations to increased susceptibility to sporadic DCM, offering novel insights into the molecular basis of DCM. PMID: 28690296
• Mapping nsSNPs in genes like NKX 2-5 could provide valuable information for individuals carrying these polymorphisms, potentially serving as diagnostic markers. PMID: 27152669
• The variant distribution of NKX2-5, GATA4, and TBX5 is strongly associated with specific Congenital heart disease subtypes. Structural modeling analysis indicates that these mutated amino acid residues retain their DNA-binding capacity and structural stability. PMID: 27426723
• The current study expands the spectrum of NKX2.5 mutations linked to congenital atrial septal defect and atrioventricular block, suggesting that NKX2.5 loss-of-function mutations are a rare cause of these conditions in humans. PMID: 28259982
• I184F-NK2 homeobox 5 homeobox protein is a novel variant associated with congenital heart disease. PMID: 27855642
• NKX2-5 mutations primarily occur in familial congenital heart defects, with a characteristic phenotype of atrial septal defects accompanied by conduction disturbances. Mutation carriers face an elevated risk of sudden cardiac death. PMID: 26679770
• The amino acid sequence 187QNRRYKCKRQR197 is essential for the exclusive nuclear localization of NKX2.5. PMID: 27401138
• Mutations in NKX2.5 and GATA4 genes may contribute to the development of congenital heart disease and can promote the differentiation of bone marrow-derived stroma cells into cardiomyocytes. PMID: 27154817
• Data indicate that cells cultured on cardiac muscle laminin (LN)-based substrata, in combination with stimulation of the canonical Wnt/beta-catenin pathway, exhibit increased gene expression of ISL1, OCT4, KDR, and NKX2.5. PMID: 27052314
• There is no evidence supporting 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
• Overexpression of Nkx2.5 significantly promotes the differentiation of human umbilical cord-derived mesenchymal stem cells into cardiomyocytes. PMID: 26898431
• Egyptian T-cell acute lymphoblastic leukemia cases appear to have a distinct 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
• This study reveals a novel pathway that directly links ErbB4 and p38gamma to the transcriptional machinery of the NKx2.5-GATA4 complex, which is crucial for cardiomyocyte formation during mammalian heart development. PMID: 26418945
• The single nucleotide polymorphism rs2277923 of the NKX2-5 gene contributes to the risk of sporadic congenital heart disease in Chinese Bai people. PMID: 26823822
• The frequency of NKX2.5 gene mutations among patients with Atrial septal defect: in 80% of affected individuals, two polymorphic sites are located at position 487 and 495. PMID: 26931254
• The crystal structure and binding domains have been identified in cardiac NKX2.5. PMID: 26926761
• This study presents the mutational and expression analysis of the NKX2.5 gene in nonsyndromic CHD patients. PMID: 26273787
• NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia. PMID: 26421664
• Our findings demonstrate that somatic NKX2-5 mutations do not represent a significant etiologic pathway in Chinese children with congenital heart disease. PMID: 26180509
• Combined expression of NKX2-5, HAND1, and NOTCH1 contributes to cardiac malformations in Hypoplastic left heart syndrome. PMID: 25050861
• The novel DSV (1500G>C) of the NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in the Chinese Yunnan population. PMID: 26297999
• NKX2-5 is highly expressed in a racially disparate fashion (Caucasians > African Americans) in a subset of early onset and severe preeclampsia placentae. PMID: 24987805
• Nkx2-5 (and Isl1) regulates the specification of cardiac progenitor cells and the acquisition of cardiomyocyte subtype identity. PMID: 25524439
• Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. PMID: 25524324
• NKX2-5 is 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
• The MESP1-NKX2-5 hESC reporter line allows the identification of molecular cues crucial for the specification and expansion of human cardiac mesoderm and early progenitors, and their differentiation to specific cardiovascular derivatives. PMID: 25187301
• 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
• The findings expand the mutational spectrum of NKX2-5 linked to DCM and provide novel insight into the molecular mechanisms underlying DCM, contributing to antenatal prophylaxis and allele-specific management of DCM. PMID: 25503402
• Nkx2.5 and p53 synergistically activate the promoter of the striated muscle stress responsive transcriptional cofactor Ankrd2, involved in coordinating proliferation and apoptosis during myogenic differentiation. PMID: 25677450
• Exome sequencing demonstrated a frameshift mutation c.397_400del (p.P133GfsTer 42) in NKX2.5 in a patient with heterotaxy. PMID: 25118008
• tRNA suppressors suppress NKX2.5 premature stop codon and induce functional protein expression. PMID: 25881702
• The findings of this review strongly suggest a new association of this NKX2-5 mutation with SCD from ventricular arrhythmia. PMID: 24880466
• The hematopoietic/erythroid cell fate is suppressed via Nkx2-5 during mesodermal fate determination. PMID: 21464046
• Early cardiac marker gene Nkx2.5 levels in peripheral blood mononuclear cells reflect severity in stable coronary artery disease. PMID: 24681789
• 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
• 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
• Art27 interacts with GATA4, FOG2, and NKX2.5 and is a novel co-repressor of cardiac genes. PMID: 24743694
• 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
• 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
• 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 dilated cardiomyopathy. PMID: 25017055
• 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