CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Our results showed that the reduction of Cebpa gene expression in Lck-CALM/AF10 mice did not affect their hematopoiesis or induce leukemia. 31141090 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE CEBPA-mutated leukemia is sensitive to genetic and pharmacological targeting of the MLL1 complex. 30679799 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Functionally, we confirmed that diminished expression of PU.1 or genetic deletion of C/EBPα in MLL-AF9 cells generates resistance of these leukemias to LSD1 inhibition. 29453291 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Familial CEBPA-mutated acute myeloid leukemia (AML) represents a recognized leukemia predisposition syndrome, with several families described in the literature since the initial report in 2004. 28637622 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE In most cases, miR-9 and miR-9* were significantly upregulated and their expression levels varied according to AML subtype, with the highest expression in MLL-related leukemias harboring 11q23 abnormalities and the lowest expression in AML cases with t(8;21) and biallelic mutations in CEBPA. 26174629 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Essential HOXA9 cofactors and collaborators are also being identified, including transcription factors PU.1 and C/EBPα, which are required for HOXA9-driven leukemia. 27258906 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The presence of C/EBPα and its degradation are both required for TRIB2-mediated leukaemia. 26996668 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE This study examines the genetic events initiating leukemia and details the clinical progression of disease across multiple families harboring germ-line CEBPA mutations. 26162409 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE To assess the prognostic role of myeloid transcription factor gene CEBPA (CCAAT/enhancer binding protein-α), a novel gene involved in leukemia in Egyptian adults AML. 22990006 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Sox4you: a new player in C/EBPα leukemia. 24229703 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Subtyping of acute myeloid leukemia requires an integration of information from the patient's clinical history (such as any prior preleukemic myeloid neoplasm or cytotoxic potentially leukemogenic therapy), the leukemia morphology, cytogenetic findings, and the mutation status of particular genes (NPM1, FLT3, and CEBPA). 23590662 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE In conclusion, our results show that in contrast to its classical role antagonizing trithorax function, the polycomb group protein EZH2 collaborates with trithorax-associated menin to block MLL-AF9 leukemia cell differentiation, uncovering a novel mechanism for suppression of C/EBPα and leukemia cell differentiation, through menin-mediated upregulation of EZH2. 23349306 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Our data demonstrate that Sox4 overexpression resulting from C/EBPα inactivation contributes to the development of leukemia with a distinct LIC phenotype. 24183681 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Potent graft-versus-leukemia effect after reduced-intensity allogeneic SCT for intermediate-risk AML with FLT3-ITD or wild-type NPM1 and CEBPA without FLT3-ITD. 22766221 2012
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE In addition, treatment of these leukemias with demethylating agents restored the C/EBPα-C/EBPγ balance and upregulated the expression of myeloid differentiation markers. 23160200 2012
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Our results provide the first report of multiple mutations of CEBPA contributing to the transformation of donor cells to the leukemic phenotype and provide clues to support the multiple-genetic-hits mechanism of donor cell leukemia. 21403128 2011
CUI: C0023418
Disease: leukemia
leukemia
0.100 PosttranslationalModification disease BEFREE In this review we will discuss and summarize briefly our current knowledge of epigenetic alterations in leukemias and will turn our attention to a concrete example of epigenetic deregulation of CCAAT/enhancer-binding protein alpha (C/EBPα), a key regulator for granulocytic differentiation of common myeloid progenitor cells in order to highlight the cooperativity of genetic and epigenetic mechanisms acting on this gene during the process of leukemogenesis. 21601364 2011
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE In addition, DNA methylation profiles segregated patients with CEBPA aberrations from other subtypes of leukemia, defined four epigenetically distinct forms of AML with NPM1 mutations, and showed that established AML1-ETO, CBFb-MYH11, and PML-RARA leukemia entities are associated with specific methylation profiles. 20060365 2010
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Moreover, these studies indicate that CEBPA mutations affect HSCs in early leukemia development by inducing proliferation and limiting their lineage potential. 20422469 2010
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Biologically, CEBPA-silenced leukemias presented with a decreased response to myeloid growth factors in vitro. 19168792 2009
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE CCAAT/enhancer binding protein-alpha polymorphisms occur more frequently than mutations in acute myeloid leukemia and exist across all cytogenetic risk groups and leukemia subtypes. 18729193 2008
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease LHGDN We found that in these leukemias, the CEBPA gene was silenced, which was associated with frequent promoter hypermethylation. 17671232 2007
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The close relationship of CEBPA mutations with the leukemia status of the patients and the concordance of mutation in presenting and relapse samples implicate the CEBPA mutation as a potential marker for monitoring minimal residue disease. 15746035 2005