TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE We report here that X<sub>c</sub><sup>-</sup> cystine/glutamate antiporter (xCT) was elevated in Tsc2<sup>-/-</sup> or Pten<sup>-/-</sup> cells, Tsc1 knockout mouse tissues and TSC2-deficient human kidney tumor. xCT was transcriptionally boosted by mTOR-mediated Oct1 signaling cascade. 30760873 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE Tsc2+/- mice at increasing age groups at 8 and 10 months were exposed to repeated doses of gamma radiation (0.4 Gy × 5) and assessed for aggravated kidney tumor formation at 2 months post-irradiation. 30508035 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 AlteredExpression disease BEFREE These data provide the first evidence that tuberin plays a novel role in regulating ROS generation, NADPH oxidase activity, and Nox expression that may potentially be involved in development of kidney tumor in patients with tuberous sclerosis complex. 27278252 2016
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 AlteredExpression disease BEFREE In addition, a significant increase in phospho-Akt/tuberin expression was associated with an increase in Ki67 expression and activation of mTOR in kidney tumor with or without diabetes compared to diabetes alone. 24797175 2014
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE These data comprise the first report to provide the role of Akt/tuberin/mTORC1/2 in the regulation of N-cadherin and vimentin that are involved in the progression of fibrosis in kidney tumor of TSC patients. 25149531 2014
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE In the present study, we investigated the potential role of tuberin/mTOR pathway in the regulation of cell fibrosis in AML cells and kidney tumor tissue from tuberous sclerosis complex (TSC) patients. 23705901 2013
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE UPR activation and apoptosis were also detected in Tsc2-deficient kidney tumors. 23699409 2013
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease CTD_human Renal tumors derived from 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ)-treated Tsc-2(EK/+) rats, and null for tuberin, display elevated nuclear and cytosolic p27, with parallel increases in cytosolic cyclin D1 levels. 21693435 2011
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 AlteredExpression disease BEFREE A complete deficiency in tuberin is associated with loss of AP4 and OGG1 expression in kidney tumour from Eker rats and the accumulation of significant levels of 8-oxo-deoxyguanosine. 20837600 2010
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE Mice that are heterozygous for the del3 allele have a markedly reduced kidney tumor burden in comparison with conventional Tsc2(+/-) mice. 19357198 2009
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 AlteredExpression disease BEFREE The purpose of this study is to determine the effect of tuberin-deficiency on OGG1 protein and mRNA levels as well as on 8-oxodG levels in kidney tumors from patients with TSC. 19265534 2009
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE Phase I/II clinical trials of the mTORC1 inhibitor rapamycin have demonstrated reduction in size of tuberous-sclerosis- and LAM-associated renal tumours (angiomyolipomas) and some evidence for reversible improvement in lung function in patients with LAM. 19143643 2009
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE In this study, we show that both phosphatidylinositol 3-kinase-dependent and phosphatidylinositol 3-kinase-independent mTORC2 substrates are affected by loss of the TSC1-TSC2 complex in cell culture models and kidney tumors from both Tsc2(+/-) mice (adenoma) and TSC patients (angiomyolipoma). 19602587 2009
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 GeneticVariation disease BEFREE In this study, total beta-catenin protein levels were found to be elevated in the TSC2-related renal tumors. 12511557 2003
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE In TSC associated kidney tumors and sporadic brain tumors the loss/reduction of tuberin has been shown. 12100629 2002
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease CTD_human High extracellular signal-regulated kinase (ERK) activity occurred in the OSOM of Tsc2(EK/+) rats at 4 mo and in TGHQ-induced renal tumors. 12110509 2002
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease CTD_human "Carcinogenicity of a nephrotoxic metabolite of the ""nongenotoxic"" carcinogen hydroquinone." 11170505 2001
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.400 Biomarker disease BEFREE Notably, however, development of renal tumors in Tsc1(+/-) mice was apparently slower than that in Tsc2(+/-) mice. 11438694 2001