Recombinant Human T-box transcription factor TBX1 (TBX1)

1. a mutation, c.303-305delGAA, located in the third exon of TBX1 that does not disrupt TBX1 mRNA expression or DNA binding activity, but results in decreased TBX1 protein levels and transcriptional activity. PMID: 28272434
2. The screening of TBX1 coding sequence identified a novel missense mutation c.569C>A (p.P190Q) in six unrelated patients with syndromic congenital heart defects. PMID: 29596833
3. PCR and western blotting demonstrated that TBX1 expression may be associated with congenital heart disease. PMID: 29568912
4. Studied expression, function, and regulation of T-box transcription factor (TBX1), in human parathyroid adult normal and tumor tissues. PMID: 28920943
5. A genome wide are study to identify acute kidney injury risk in critically ill patients identified a locus on chromosome 22 found 140kb upstream of TBX1, and may affect pathways that contribute to AKI pathophysiology. PMID: 27576016
6. The results clearly suggest a possible etiologic association between the TBX1 deletion and Tetralogy of Fallot. PMID: 26036351
7. TBX1 loss-of-function mutation with enhanced susceptibility to double outlet right ventricle (DORV) and ventricular septal defect (VSD)in humans, which provides novel insight into the molecular mechanism underlying Congenital heart disease (CHD). PMID: 25860641
8. SNPs in three genes CYP26B1 rs2241057, CISD1 rs2251039, rs2590370, and TBX1 rs4819522 were involved in six potential pathways to influence serum prostate-specific antigen levels. PMID: 25168891
9. TBX1 T-box domain binds DNA as two distinct monomers. PMID: 22095455
10. TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes. PMID: 24637876
11. Findings indicate an association between TBX1 variations and fetal CTD. The results also demonstrate the power of array CGH to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects. PMID: 23828768
12. Observations suggest that TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated conotrucal heart defects (CTDs)in patients without 22q11.2 deletion. PMID: 24998776
13. Results show that TBX1 regulates brain angiogenesis through the DLL4/Notch1-VEGFR3 regulatory axis. PMID: 23945394
14. DNA sequence variants within the TBX1 gene promoter may change TBX1 level, contributing to indirect inguinal hernia development as a rare risk factor PMID: 24295890
15. TBX1 can alter TGF-beta/BMP, an important signaling pathway, through interacting with HOXD10. Above findings may shed light on the mechanism of TBX1 mutations leading to renal malformations found in patients carrying a 22q11 deletion. PMID: 22842189
16. shRNA silencing of the T-box transcription factor Brachyury resulted in downregulation of the EMT and stem cell markers in adenoid cystic carcinoma cell lines. Brachyury expression in clinical samples of AdCC was extremely high and closely related to EMT. PMID: 22931165
17. common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant. PMID: 23034814
18. The sequence variants within TBX1 gene promoter may contribute to the ventricular septal defect etiology by altering the expression levels of TBX1 gene. PMID: 22801995
19. We describe eight patients with variable phenotype features harboring atypical distal deletions of chromosome 22q11.2 not encompassing the TBX1 gene. PMID: 22893440
20. common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome (TBX1 ) PMID: 21796729
21. TBX1 genetic variants may be associated with conotruncal heart defects. PMID: 22185286
22. This is the first comprehensive investigation of common and rare TBX1 genetic variants in non-syndromic tetralogy of Fallot cases and it has identified a rare novel functional genetic variant that is a likely susceptibility factor to tetralogy of Fallot. PMID: 20937753
23. Studies indicate that mutations in the TBX1 gene have been found in patients with phenotypes reminiscent of 22q11.2 syndromes. PMID: 20497193
24. Brachyury is overexpressed in various human tumor tissues and tumor cell lines compared with normal tissues. PMID: 20071775
25. mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects PMID: 11748311
26. identified a single cis-element upstream of Tbx1 that recognized winged helix/forkhead box (Fox)-containing transcription factors PMID: 12533514
27. Genetic dissection of the DiGeorge syndrome phenotype. PMID: 12858556
28. Mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients. PMID: 15337468
29. a novel nuclear localization signal in Tbx1 is deleted in DiGeorge syndrome patients harboring the 1223delC mutation PMID: 15703190
30. role for Tbx1 in mediating epithelial-mesenchymal signalling in regions of the developing face PMID: 16586352
31. Data show that deficits in prepulse inhibition, a behavioral abnormality and schizophrenia endophenotype, in Df1/+ mice are caused by haploinsufficiency of two genes, Tbx1 and Gnb1l. PMID: 16684884
32. TBX1 missense mutations cause gain of function resulting in Shprintzen syndrome PMID: 17273972
33. screen for TBX1 gene mutations identified 2 mutations in patients with some features compatible with 22q11.2-deletion syndrome but with no deletions. PMID: 17377518
34. T-box transcription factor and a molecule implicated in mesodermal developmecan may be a potential target for human T-cell-mediated cancer immunotherapy. PMID: 17438107
35. TBX1 variation does not make a strong contribution to the genetic etiology of nonsyndromic forms of psychiatric disorders commonly seen in patients with 22q11DS. PMID: 17622328
36. Our data suggest that the genetic polymorphisms within TBX1 do not confer an increased susceptibility to schizophrenia in the Chinese population. PMID: 17850965
37. T-bet expression does not inhibit interferon-alpha-dependent interleukin-2 secretion in human T(central memory) cells. PMID: 19050236
38. Fluorescent in situ hybridisation analysis on FGFR4, ETS2 and brachyury failed to show either amplification or translocation for ERG and ETS2 loci PMID: 19407855
39. Atypical deletion of 22q11.2 detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays is reported. PMID: 19467348

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HGNC: 11592

OMIM: 188400

KEGG: hsa:6899

UniGene: Hs.173984