|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
A WWTR1-CAMTA1 fusion is present in most classic epithelioid hemangioendothelioma, regardless of their clinical behavior, suggesting that additional genetic abnormalities might be responsible in driving a more aggressive biology.
|
31537895 |
2019 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our report provides the first case of intracranial EHE with molecular proof of WWTR1-CAMTA1 gene fusion.
|
30085199 |
2018 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future.
|
28855107 |
2018 |
|
Epithelioid hemangioendothelioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
His tumor expressed the EHE-specific fusion oncogene WWTR1-CAMTA1.
|
28598585 |
2017 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic studies also led to the finding that WWTR1-CAMTA1 fusions are useful diagnostic markers for epithelioid hemangioendotheliomas, which can present as pleural-based masses.
|
26811225 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Genetic characterization of several soft tissue tumour types that occur in the skin has resulted in the identification of diagnostically useful markers: ALK gene rearrangement with corresponding ALK protein expression by immunohistochemistry in epithelioid fibrous histiocytoma; the WWTR1-CAMTA1 fusion gene with CAMTA1 protein expression in epithelioid haemangioendothelioma; MYC amplification and overexpression in radiation-associated angiosarcoma; and EWSR1 gene rearrangement in cutaneous myoepithelial tumours.
|
26763770 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The WWTR1 (protein is known as TAZ)-CAMTA1 (WC) fusion gene defines epithelioid hemangioendothelioma, a malignant vascular cancer.
|
25961935 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, we observed CAMTA1 gene break-apart in all of the five TFE3-positive EHEs via FISH assays, and four out of the five TFE3-positive EHEs exhibited WWTR1-CAMTA1 gene fusions via RT-PCR.
|
26840265 |
2016 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Instead, WWTR1-CAMTA1 and YAP1-TFE3 fusion genes are found in almost all cases of epithelioid haemangioendothelioma.
|
26050962 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fluorescence in situ hybridization analysis showed CAMTA1-WWTR1 fusions in 4/7 low-grade and 23/23 intermediate-grade EHE (P<0.001).
|
25353289 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas.
|
25680571 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study confirms the high incidence of WWTR1-CAMTA1 and YAP1-TFE3 rearrangements in EHE and indicates that the staining pattern for TFE3 IHC is critical for specificity.
|
25817592 |
2015 |
|
Epithelioid hemangioendothelioma
|
0.400 |
FusionGene
|
disease |
ORPHANET |
Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases.
|
24986479 |
2014 |
|
Epithelioid hemangioendothelioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Conventional epithelioid hemangioendotheliomas (EHE) have a distinctive morphologic appearance and are characterized by a recurrent t(1;3) translocation, resulting in a WWTR1-CAMTA1 fusion gene.
|
23737213 |
2013 |
|
Epithelioid hemangioendothelioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE.
|
22429593 |
2012 |
|
Epithelioid hemangioendothelioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The chimeric WWTR1/CAMTA1 transcription factor may represent a therapeutic target for EHE and offers the opportunity to shed light on the functions of two poorly characterized proteins.
|
21885404 |
2011 |
|
Epithelioid hemangioendothelioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Subsequent reverse transcription-polymerase chain reaction (RT-PCR) confirmed in three EHE the WWTR1-CAMTA1 fusion product.
|
21584898 |
2011 |
|
Alveolar rhabdomyosarcoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
On the other hand, the YAP paralog transcriptional co-activator with PDZ-binding motif (TAZ) is overexpressed in alveolar rhabdomyosarcoma (aRMS) patients with poor survival.
|
31494105 |
2019 |
|
Alveolar rhabdomyosarcoma
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
On the other hand, the YAP paralog transcriptional co-activator with PDZ-binding motif (TAZ) is overexpressed in alveolar rhabdomyosarcoma (aRMS) patients with poor survival.
|
31494105 |
2019 |
|
Muscular Atrophy
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
Screening with a novel cell-based assay for TAZ activators identifies a compound that enhances myogenesis in C2C12 cells and facilitates muscle repair in a muscle injury model.
|
24550007 |
2014 |
|
Neurogenic Muscular Atrophy
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
Screening with a novel cell-based assay for TAZ activators identifies a compound that enhances myogenesis in C2C12 cells and facilitates muscle repair in a muscle injury model.
|
24550007 |
2014 |
|
Nephronophthisis
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Collectively, cell density-regulated ferroptosis in ovarian cancer is mediated by TAZ through the regulation of the ANGPTL4-NOX2 axis, suggesting therapeutic potentials for ovarian cancers and other TAZ-activated tumors.
|
31641008 |
2020 |
|
Carcinogenesis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Yes-associated protein (YAP) and its homolog transcriptional coactivator with PDZ-binding motif (TAZ) are key effectors of the Hippo pathway to control cell growth and organ size, of which dysregulation yields to tumorigenesis or hypertrophy.
|
31831627 |
2020 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |