TBX2, T-box transcription factor 2, 6909

N. diseases: 152; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 AlteredExpression disease BEFREE To elucidate the underlying cellular mechanism of the TBX2-mediated repression of ADAM10 gene expression, we performed overexpression, RNAi-mediated knockdown and pharmacological inhibition studies in the human neuroblastoma cell line SH-SY5Y. 30599067 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 Biomarker disease BEFREE We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma. 30127528 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 Biomarker disease CTD_human We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma. 30127528 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.330 AlteredExpression disease BEFREE In conclusion, we provide insight into the role of the TBX2 CRC gene in transcriptional dependency of neuroblastoma cells warranting clinical trials using BET and CDK7 inhibitors. 30451831 2018