|
Weaver syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.
|
24214728 |
2013 |
|
Weaver syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data show that mutations in EZH2 cause Weaver syndrome.
|
22177091 |
2012 |
|
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals.
|
24214728 |
2013 |
|
Weaver syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2.
|
26694085 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
Diffuse Large B-Cell Lymphoma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Lymphoma, Follicular
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Lymphoma
|
0.500 |
CausalMutation
|
group |
CGI |
|
|
|
|
B-Cell Lymphomas
|
0.400 |
CausalMutation
|
group |
CGI |
|
|
|
|
Solid Neoplasm
|
0.400 |
CausalMutation
|
phenotype |
CGI |
|
|
|
|
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 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that DLBCL was associated with increased expression of the EZH2 PcG protein and Ki67.
|
24304372 |
2014 |
|
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 |
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 |
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 |
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 |
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 |
|
Lymphoma, Follicular
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Several EZH2 inhibitors, which inhibit the methyltransferase activity of EZH2, have shown promise in treating sarcoma and follicular lymphoma in clinics.
|
31819273 |
2020 |
|
Lymphoma
|
0.500 |
AlteredExpression
|
group |
BEFREE |
We discovered that YC-1 induces apoptosis and inhibits tumour growth of breast cancer cells via down-regulation of EZH2 by activating c-Cbl and ERK.
|
24697523 |
2014 |
|
Lymphoma
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Enhancer of zeste homolog 2 (EZH2), an H3K27-specific histone methyltransferase, has been shown to be frequently overexpressed in various human cancers including lymphoma.
|
30218753 |
2019 |
|
Lymphoma
|
0.500 |
AlteredExpression
|
group |
BEFREE |
However, it is unknown whether specific, direct inhibition of EZH2 methyltransferase activity will be effective in treating EZH2 mutant lymphomas.
|
23051747 |
2012 |
|
Lymphoma
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Recent experiments have demonstrated that the Polycomb group (PcG) gene EZH2 is highly expressed in metastatic prostate cancer and in lymphomas.
|
14532106 |
2003 |