E2F1, E2F transcription factor 1, 1869

N. diseases: 324; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Retinoblastoma is a pediatric solid tumor of the retina activated upon homozygous inactivation of the tumor suppressor <i>RB1</i> VCN-01 is an oncolytic adenovirus designed to replicate selectively in tumor cells with high abundance of free E2F-1, a consequence of a dysfunctional RB1 pathway. 30674657 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE E2F1 function is crucial for responding to loss of proper Rb-mediated growth control to activate p53 and the apoptotic program. 15190206 2004
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE E2F1 is a critical downstream target of the tumor suppressor retinoblastoma (RB). 21454377 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE E2F1 and retinoblastoma (RB) tumor-suppressor protein not only regulate the periodic expression of genes important for cell proliferation, but also localize to DNA double-strand breaks (DSBs) to promote repair. 31666529 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE E2F-1 activity is regulated by a number of proteins, including the retinoblastoma susceptibility gene product, cyclin-dependent kinases, and their inhibitors, proteins that have been implicated in the control of certain developmental processes. 8552097 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE A knock-in mutation of the ATM phosphorylation site on E2F1 (S29A) prevents the interaction between E2F1 and TopBP1 and recruitment of RB, E2F1, and BRG1 to DSBs. 27940962 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Additionally, identification of protumorigenic transcriptional networks specific to RB loss that were validated in clinical samples demonstrated the ability of RB loss to differentially reprogram E2F1 in human cancers. 29202480 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Ar6pAE2fF (E2F vector) contains the E2F-1 promoter to regulate the expression of the E1a gene in cells with a disregulated retinoblastoma pathway. 12788649 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE At the protein level, prolonged down-regulation of E2F-1 and proliferating cell nuclear antigen (PCNA), sustained expression of p21(WAF1/CIP1) and dephosphorylation of retinoblastoma (Rb) occurred in the sensitive cells. 19636513 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Because XP-E cells deficient in the p48 subunit of the damaged DNA-binding protein are impaired in E2F-1-activated transcription, these results also suggest that the (pRb-regulated) transcription factor E2F-1 does not play an essential role in UV-enhanced expression from the CMV-IE promoter. 12870848 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Both RB-deficient and E2F1-overexpressing photoreceptor cells expressed rhodopsin, a marker of terminal differentiation. 11704831 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 PosttranslationalModification disease BEFREE CAGE overexpression also enhanced retinoblastoma phosphorylation and subsequent E2F-1 nuclear translocation. 20220142 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Chromatin immunoprecipitation assays demonstrated that nicotine stimulation caused an increased recruitment of E2F1 and concomitant dissociation of retinoblastoma tumor suppressor protein (Rb) from survivin promoter in A549 cells. 16601104 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Following the subcloning of the promoter regions into a gene reporter system, we found that at least four promoter haplotypes associated with CCND1, E2F1, HDAC1 and RB1 significantly influenced transcriptional activity in an allele-specific manner. 16081466 2005
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Furthermore, a consequence of HMDB-induced CEBPD expression was linked with E2F1 and retinoblastoma (RB), which discloses the scenario of CEBPD, E2F1, and RB bindings and transcriptional regulation on the promoters of proapoptotic genes, PPARG2 and GADD153. 20971808 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Here we illustrate the usefulness of the dual luciferase reporter assay to detect E2F-mediated transcriptional activity upon overexpression of E2F1 in cultured cells as readout for RB status and function. 29468551 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE However, it remains largely elusive whether the hyper-phosphorylated, non-E2F1-interacting form of Rb has any physiological role. 27237051 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Immunoprecipitation assay and ChIP-quantitative PCR results showed that FGF9-induced Rb phosphorylation led to the dissociation of Rb-E2F1 complexes and thereby enhanced the transactivations of E2F1 target genes, Cyclin D1, Cyclin E1 and Cyclin A1. 30191630 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE In addition, miR-598 was found to promote cell apoptosis and inactivate the protein kinase B (AKT) pathway in RB. miR-598 suppressed RB cell viability and metastasis through inhibiting E2F1 and inactivating AKT pathway, which may provide a new perspective for RB treatment. 31674056 2020
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE In LNCaP cells, p53, p21, Bax, and hypophosphorylated retinoblastoma tumor suppressor protein (pRb) levels increased, whereas Bcl2, pRb protein, and E2F transcription factor 1 (E2F1) levels decreased. 13130078 2003
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Inhibition of retinoblastoma (RB) phosphorylation and reduction in levels of free E2F-1 appear to play an important role in EOC growth arrest. 20196847 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Most important, this E2F-1 small interfering RNA also blocks the ability of IGF-I to increase cyclin A accumulation and to hyperphosphorylate RB. 14681231 2004
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE MSeA suppressed the mitogen/CDK-driven phosphorylative inactivation of retinoblastoma (Rb) protein, diminishing E2F1 release from Rb. 17847021 2008
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Observation of a direct interaction of retinoblastoma (Rb) and E2F1 proteins with RecQL4 promoter suggests that Rb-E2F1 pathway may regulate RecQL4 expression. 21045146 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 PosttranslationalModification disease BEFREE Overexpression of p21waf1 leads to increased inhibition of E2F-1 phosphorylation and sensitivity to anticancer drugs in retinoblastoma-negative human sarcoma cells. 9187120 1997