Recombinant Human T-box transcription factor TBX5 (TBX5)

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. Study showed that thalidomide inhibited the TBX5/HAND2 physical interaction, and the in silico docking revealed that the same amino acids involved in the interaction of TBX5 with DNA are also involved in its binding to HAND2. Results establish a HAND2/TBX5 pathway implicated in heart development and diseases. PMID: 28469241
3. down-regulation of miR-10a-5p promotes proliferation and restricts apoptosis via targeting TBX5 in inflamed synoviocytes. PMID: 29545315
4. Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests. PMID: 27958623
5. TBX5 overexpression markedly suppressed in vitro NSCLC cell proliferation, colony formation, and invasion and induced apoptosis. PMID: 28276311
6. TBX5 variants show possible pathogenic Fibrosis of the Cardiac Conduction system. PMID: 27005929
7. TBX5 deficiency-mediated downregulation of NFAT3 is crucial for the high cytokine-producing activity of T cells PMID: 29180489
8. A novel heterozygous missense mutation in TBX5 gene identified in a case of ventricular septal defect. The mutation causes significant changes of the activity of TBX5 in vitro. PMID: 28434921
9. There is no difference in NKX2.5 and TBX5 gene mutations between in vitro fertilization and naturally conceived children with congenital heart disease (CHD). PMID: 28606231
10. Rs7312625 of TBx5 gene was significantly associated with lone atrial fibrillation, and snp-snp interaction increased the risk of atrial fibrillation. PMID: 27479212
11. 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
12. Findings suggest that a single introduction of the three cardiomyogenic transcription factor (GATA4, cand TBX5)genes using polyethyleneimine (PEI)-based transfection is sufficient for transdifferentiation of adipose-derived stem cells (hADSCs) towards the cardiomyogenic lineage. PMID: 27553283
13. Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant hypermethylation and decreased expression. The i(12p)-positive cells displayed global hypomethylation of gene-poor regions on 12p, a footprint previously associated with constitutional and acquired gains of whole chromosomes as well as with X-chromosome inactivation in females PMID: 26890086
14. report on the association between a TBX5 lossoffunction mutation and increased susceptibility to atrial fibrillation PMID: 27035640
15. Whole-genome microarray mRNA-expression profiles of myofibroblasts and skin fibroblasts revealed four additional genes that are significantly differentially expressed in these two cell types: NKX2-3 and LRRC17 in myofibroblasts and SHOX2 and TBX5 in skin fibroblasts PMID: 27036009
16. The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk. PMID: 26783083
17. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1 PMID: 26749485
18. provide both genetic and functional evidence to support the contribution of TBX5 gene in the pathogenesis of Atrial fibrillation PMID: 26762269
19. In summary, our study implicated a gene network involving Tbx5, Osr1 and Pcsk6 interaction in second heart field for atrial septation, providing a molecular framework for understanding the role of Tbx5 in congenital heart disease ontogeny. PMID: 26744331
20. The findings expand the mutational spectrum of TBX5 linked to Atrial fibrillation (AF), and provide new evidence that dysfunctional TBX5 may contribute to lone AF. PMID: 26917986
21. TBX5 microdeletion with microinsertion was detected in patient with Holt-Oram syndrome. PMID: 26780237
22. The crystal structure of cardiac TBX5 protein includes the N-terminal and DNA binding domains, which mediate intermolecular interactions. PMID: 26926761
23. Exome analysis revealed the splice mutation (c.148-1G>C) in TBX5 gene showing that haploinsufficiency of TBX5 protein caused the symptoms of the patients with Holt-Oram syndrome. PMID: 26401820
24. defines a TBX5-nucleosome remodeling and deacetylase interaction essential to cardiac development and the evolution of the mammalian heart PMID: 26859351
25. Data show that the combination of GATA binding protein 4 (Gata4), T-box transcription factor 5 (Tbx5) and BRG1-associated factor 60C protein (Baf60c) is sufficient for inducing adipose tissue-derived mesenchymal stem cells (ADMSCs) to form cardiomyocytes. PMID: 26071180
26. All Holt-Oram syndrome patients in this study showed cardiac septal anomalies. Half of them showed TBX5 gene mutations. PMID: 25216260
27. a novel heterozygous TBX5 mutation, p.A143T, was identified in a patient with sporadic dilated cardiomyopathy. PMID: 25963046
28. TBX5 mutation is involved in the development of cardiac conduction disorders. PMID: 25426816
29. Two heterozygous mutations in TBX5 were discovered in screening a series of 94 patients with Tetralogy of Fallot. PMID: 25263169
30. A novel TBX5 mutation, p.S154A, was identified in a family with familial dilated cardiomyopathy.The mutation was associated with significantly decreased TBX5 transcriptional activity. PMID: 25725155
31. a novel mutation of TBX5 gene in Holt-Oram Syndrome PMID: 24408148
32. TBX5 isoforms derived from novel exons have distinct expression domains and function. Alternative splicing regulates TBX5 function in heart and limb. PMID: 25623069
33. TBX5 mutations and clinical features of Holt-Oram syndrome. [Review] PMID: 25680289
34. This is a novel gene implicated in atrial fibrillation PMID: 25124494
35. miR-10a and miR-10b repressed TBX5 expression and decreased TBX5 protein levels by targeting the TBX5 3'-untranslated region in Congenital heart disease patients . PMID: 24714979
36. closest protein-coding genes were respectively GDF7 (rs3072), which encodes a ligand in the bone morphogenetic protein pathway, and TBX5 (rs2701108), which encodes a transcription factor that regulates esophageal and cardiac development PMID: 25447851
37. Reprogramming efficiency was significantly enhanced for cardiac myocytes when there were lower levels of Tbx5. PMID: 25416133
38. Rheumatoid arthritis synovial fibroblasts contribute to the inflammatory processes operating in the pathogenesis of rheumatoid arthritis via epigenetic control of TBX5. PMID: 25320281
39. Data show that Hdac3 physically interacts with Tbx5 and modulates its acetylation to repress Tbx5-dependent activation of cardiomyocyte lineage-specific genes. PMID: 24565863
40. The TBX5 DNA-binding domain complex was shown to interact with a DNA element from atrial natriuretic factor. PMID: 24817716
41. Tbx5 knock-down hearts displayed a marked decrease in vascular density and coronary vasculogenesis. PMID: 25245104
42. Our results indicate that rs3825214 conferred a significant risk of lone AF in this Chinese Han population. PMID: 23717681
43. beta-catenin forms a complex with YAP1 and TBX5, which promotes colon cancer cell survival and contributes to malignant transformation. These observations reveal hitherto unidentified components of the beta-catenin pathway that play key roles in survival of beta-catenin-active cells. PMID: 23245941
44. Single-base-pair mutation in the TBX5 enhancer is associated with the isolated congenital heart disease. PMID: 22543974
45. This is the first known report of an intragenic duplication of TBX5 and its clinical effects; an atypical HOS phenotype. PMID: 22333898
46. data will not only deepen our understanding of genetic causes of CHD but also provide insight into designing novel personalized therapy for adult patients with CHD by upregulating TBX5 gene expression with different approache PMID: 22901678
47. We will introduce several genetic approaches, which have been or are currently being applied to the study of PDA, that have been successful in identifying polymorphisms associated with adult diseases. PMID: 22414880
48. Mutations of TBX5 cause Holt-Oram syndrome, which includes congenital heart disease as a clinical feature. PMID: 22011241
49. This incomplete penetrance has not been described in TBX5-associated Holt-Oram syndrome or in families with clinical Holt-Oram syndrome PMID: 21752519
50. Data show that Tbx4 and Tbx5 harbour conserved and divergent transcriptional regulatory domains that account for their roles in limb development. In particular, both factors share an activator domain and the ability to stimulate limb growth PMID: 20975709

显示更多

收起更多

HGNC: 11604

OMIM: 142900

KEGG: hsa:6910

STRING: 9606.ENSP00000309913

UniGene: Hs.381715