TBX20 Antibody

1. TBX20 can be considered a KCNH2-modifying gene. PMID: 28049825
2. This study firstly links TBX20 loss-of-function mutation to familial tetralogy of Fallot or sporadic persistent truncus arteriosus, providing novel insight into the molecular pathogenesis of Congenital heart disease. PMID: 28553164
3. results showed that the TBX20 gene is not the major gene affecting nonsyndromic congenital heart disease development PMID: 28525297
4. chromatin analysis reveals that endocardial TBX20 has roles in septation PMID: 27348591
5. The current study associated TBX20 haploinefficiency with isolated Dilated cardiomyopathy (DCM), and expanded upon the mutational spectrum of TBX20 associated with DCM and congenital heart disease (CHD), which provides novel insight into the molecular mechanism of DCM and CHD, suggesting potential implications for early personalized treatment of these diseases. PMID: 27510170
6. Silencing of TBX20 in rat myocardial and human embryonic kidney cells significantly inhibited cell proliferation, induced cell apoptosis and led to G2/M cell cycle arrest. PMID: 27572266
7. rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect. PMID: 27323105
8. Among the 8 SNPs identified, 6 are in strong linkage disequilibrium and the minor alleles are associated with lower CHD risk. The minor alleles have lower transcriptional activity than major alleles in both human heart tissues and three cell lines. TBX20 minor alleles may exhibit higher binding affinity with certain transcription repressors. PMID: 27034249
9. Cardiac TBX20 expression showed a negative correlation with LVEF and a positive correlation with left ventricular end-systolic volume. No significant difference in TBX20 CNVs and promoter methylation was observed between IDCM patients and control group PMID: 26895318
10. The mutation markedly reduced the synergistic activation of TBX20 with NKX2-5 or GATA4. PMID: 26118961
11. We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with atrial septal defect PMID: 25834824
12. Data showed that the TC genotype of SNP rs3999941 and AC genotype of the new SNP c.657A>C in the TBX20 gene may be risk factors for CHD. PMID: 25487630
13. TBX20 loss-of-function mutation contributes to double outlet right ventricle PMID: 25625280
14. A novel TBX20 mutation, c.526G>A (p.D176N), was identified and co-segregated in all affected members in this family of three generations with atrial septal defects. PMID: 25183037
15. Tbx20 regulated PPAR-gamma expression and protected the vascular endothelial cells from oxidized low-density lipoprotein -induced injury. PMID: 24247152
16. Tbx20 functions as an important regulator of estrogen-mediated cardiomyocyte protection during oxidative stress. PMID: 23871353
17. Study identified one novel heterozygous sequence variant within the proximal promoter region of TBX20 gene in a ventricular septal defects patient, which inhibited transcriptional activities of TBX20 gene promoter; data provide new information to help understanding of genetic causes and molecular mechanisms of congenital heart disease. PMID: 22465533
18. This novel interaction between TBX20b and MKLN1 may help elucidate new regulatory mechanisms within heart development. PMID: 21586270
19. Found tertiary hydrophobic interactions within the mutant TBX20 T-box of Ostium secundum atrial septal defect subjects were significantly altered leading to a more dynamic structure of the protein. PMID: 19762328
20. Our findings are the first to link TBX20 mutations to human pathology PMID: 17668378
21. analysis of TBX20 in human hearts and its regulation by TFAP2 PMID: 18275040
22. findings provide the first insight into TBX20 mutations for tetrology of fallot and anomalous pulmonary venous connection PMID: 18834961
23. These data highlight unique features of Tbx20 and suggest mechanistic ways in which cardiac T-box factors might interact synergistically and/or competitively within the cardiac regulatory network. PMID: 19414016

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HGNC: 11598

OMIM: 606061

KEGG: hsa:57057

STRING: 9606.ENSP00000386170

UniGene: Hs.404167