CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE This study reveals a mechanism whereby CBFβ-SMMHC drives leukemia maintenance and suggests that inhibitors targeting chromatin activity may prove effective in inv(16) leukemia therapy. 29958106 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes. 28299663 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Previous studies showed that the interaction between CBFβ-smooth muscle myosin heavy chain (SMMHC; encoded by <i>CBFB-MYH11</i>) and RUNX1 plays a critical role in the pathogenesis of this leukemia. 29018080 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Importantly, initial trials demonstrate that small molecules targeting these binding partners are effective against CBFβ-SMMHC induced leukemia. 27542261 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Both RUNX1 and CBFβ are frequently mutated in human leukemia. 27428424 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE RUNX1 and CBFβ are the most common targets of chromosomal rearrangements in leukemia. 23813439 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE We hypothesize that the interaction between RUNX1 and CBFβ is critical for CBF leukemia and can be targeted for drug development. 22912405 2012
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE The expression of all 3 genes was detected in most human and murine CBFB-MYH11(+) leukemia samples. 20007544 2010
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Although knock-in of CBFB-MYH11 is not sufficient to cause disease, expression increases the incidence of leukemia when combined with cooperating events. 16670269 2006
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Although CBFB forms a core-binding factor transcriptional complex with RUNX1, previous analyses have excluded the CBFB gene as the leukemia-predisposing gene in these families. 15334552 2004
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Structure of the leukemia-associated human CBFB gene. 7607682 1995