Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.
|
22190405 |
2011 |
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Weaver syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Weaver syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Degradation of PRC2 with UNC6852 blocks the histone methyltransferase activity of EZH2, decreasing H3K27me3 levels in HeLa cells and diffuse large B cell lymphoma (DLBCL) cells containing EZH2 gain-of-function mutations.
|
31831267 |
2020 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we treated Burkitt lymphoma (BL) and diffuse large B-cell lymphoma (DLBCL) cell lines with 3-deazaneplanocin-A (DZNep), an indirect EZH2 inhibitor which possesses anticancer properties both in-vitro and in-vivo.
|
31419226 |
2019 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germinal center-like DLBCL is enriched for activating EZH2 mutations, and encouraging activity has been observed for the EZH2 inhibitor tazemetostat, which now has a fast-track US Food and Drug Administration designation.
|
31287161 |
2019 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
EZH2 inhibitors reversed the upregulation of trimethylation of H3K27, and synergistically inhibited diffuse large B-cell lymphoma and other solid tumors growth in vitro and in vivo.
|
31289198 |
2019 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Univariate analyses revealed that EZH2/Bcl-2 coexpression correlated to worse objective response rate (ORR), shorter OS and PFS in DLBCL patients treated with RCHOP while multivariate analysis indicated that only elevated LDH level (<i>P</i>=0.001) and presence of B symtom (<i>P</i>=0.008) rather than EZH2/Bcl-2 coexpression were associated with worse OS.
|
31205561 |
2019 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Of clinical relevance, EZH2 inhibitors significantly restored MHC expression in <i>EZH2</i>-mutated human DLBCL cell lines.
|
30705065 |
2019 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also identified multiple acquired mutations in EZH2 inhibitor-resistant DLBCL cell lines.
|
29572378 |
2018 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Tazemetostat, first-in-class EZH2 inhibitor, demonstrated enhanced clinical activity in mutant follicular lymphoma and diffuse large B cell lymphoma.
|
30112706 |
2018 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
EZH2 Inhibition by Tazemetostat Results in Altered Dependency on B-cell Activation Signaling in DLBCL.
|
28835384 |
2017 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
EZH2 overexpression in primary gastrointestinal diffuse large B-cell lymphoma and its association with the clinicopathological features.
|
28438623 |
2017 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We investigated RUNX3 and EZH2 expression in diffuse large B-cell lymphoma (DLBCL).
|
27184221 |
2017 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Moreover, oncogenic BCL6 and EZH2 cooperate to accelerate diffuse large B cell lymphoma (DLBCL) development and combinatorial targeting of these repressors results in enhanced anti-lymphoma activity in DLBCLs.
|
27505670 |
2016 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We investigated the potential signaling molecules that regulate EZH2 overexpression in aggressive B-cell lymphomas and found that 80% of cases of EZH2-positive diffuse large B-cell lymphoma show high p-ERK1/2 expression (average ~57% tumor cell positivity).
|
27282353 |
2016 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Prioritized alterations in epigenetic modulators were common and included gain-of-function EZH2 and loss-of-function ARID1A mutations (14% of diffuse large B-cell lymphomas and 22% of follicular lymphomas contained alterations in each of these two genes).
|
27102345 |
2016 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
HDAC1,2 inhibition impairs EZH2- and BBAP-mediated DNA repair to overcome chemoresistance in EZH2 gain-of-function mutant diffuse large B-cell lymphoma.
|
25605023 |
2015 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
High-level EZH2 and H3K27me3 were common in DLBCL independent of cell-of-origin and EZH2 mutation.
|
25651430 |
2015 |
Diffuse Large B-Cell Lymphoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in ⩾5% of DLBCL, FL or BL.
|
26473533 |
2015 |