|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The frequencies of GNAQ and GNA11 mutations in UM were 45% (38/85) and 35% (30/85) respectively.
|
31614358 |
2019 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The active mutation of G protein subunit alpha q (GNAQ) or G protein subunit alpha 11 (GNA11) is a major trigger for UM.
|
30320917 |
2019 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Do GNAQ and GNA11 Differentially Affect Inflammation and HLA Expression in Uveal Melanoma?
|
31394807 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity in Mitogen-Activated Protein Kinase (MAPK) Pathway Activation in Uveal Melanoma With Somatic GNAQ and GNA11 Mutations.
|
31173078 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in GNAQ/GNA11, encoding Gαq G proteins, are initiating oncogenic events in uveal melanoma (UM).
|
30773340 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In uveal melanoma (UM) cells, the protein kinase C (pathway) is almost generally constitutively activated as a result of an activating mutation in either the GNAQ or the GNA11 G-protein.
|
30525429 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM), a rare cancer of the eye, is characterized by initiating mutations in the genes G-protein subunit alpha Q (<i>GNAQ</i>), G-protein subunit alpha 11 (<i>GNA11</i>), cysteinyl leukotriene receptor 2 (<i>CYSLTR2</i>), and phospholipase C beta 4 (<i>PLCB4</i>) and by metastasis-promoting mutations in the genes splicing factor 3B1 (<i>SF3B1</i>), serine and arginine rich splicing factor 2 (SRSF2), and BRCA1-associated protein 1 (<i>BAP1</i>).
|
31671564 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Common mutations that promote uveal melanoma initiation and progression include alterations in G protein subunit alpha q/11 (GNAQ/GNA11) and breast cancer gene 1-associated protein 1 (BAP1).
|
29206651 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we examined the frequency of GNAQ and GNA11 somatic mutations in cases of uveal melanoma in Japan and their relationship with clinicopathologic features or Ki-67-positive cell rates (Ki-67 labeling index: Ki-67 LI) using immunofluorescence methods.
|
28248732 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma.
|
29490280 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using high-throughput genotyping, mutually exclusive GNAQ and GNA11 mutations were detected in 31 of 34 UM patients together with a number of non-synonymous changes in established cancer driver genes, PHLPP2, MET, PIK3R1 and IDH-1, variants which have not been previously associated with UM.
|
30008023 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To evaluate clinico-pathological and molecular prognostic factors in a well-defined series of posterior uveal melanoma (UM) with focus on chromosomal aberrations and mutations in the GNAQ, GNA11 and BRCA1-associated protein 1 (BAP1) genes.
|
28444874 |
2018 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
G Protein subunits alpha Q (GNAQ) and alpha 11 (GNA11) are two of the major driver genes that contribute to the development of uveal melanoma.
|
28982892 |
2017 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recent genomic studies have shown that mutations within components of G protein-coupled receptor (GPCR) signaling are early events associated with approximately 98% of uveal melanomas.<b>Implications:</b> This review discusses the alterations in GPCR signaling components (GNAQ and GNA11), dysregulated GPCR signaling cascades, and viable targeted therapies with the intent to provide insight into new therapeutic strategies in uveal melanoma.<i></i>.
|
28223438 |
2017 |
|
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
|
0.800 |
Biomarker
|
disease |
MGD |
Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.
|
28194446 |
2017 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mutations in guanine nucleotide-binding protein Q polypeptide (GNAQ) and guanine nucleotide-binding protein alpha-11 (GNA11), alpha subunits of heterotrimeric G proteins, constitutively activate mitogen-activated protein kinase (MAPK) pathway in uveal melanoma.
|
26825879 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma and have been shown to constitutively activate MAPK and/or YAP signaling.
|
27058448 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
We analyzed genomics data from 136 uveal melanoma samples and found a recurrent mutation in CYSLTR2 (cysteinyl leukotriene receptor 2) encoding a p.Leu129Gln substitution in 4 of 9 samples that lacked mutations in GNAQ, GNA11, and PLCB4 but in 0 of 127 samples that harbored mutations in these genes.
|
27089179 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1.
|
26683228 |
2016 |
|
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
|
26729423 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Similarities with uveal melanoma were recently suggested as both entities harbor oncogenic mutations in GNAQ and GNA11.
|
25315378 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism.
|
26368812 |
2015 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Up to 95 % of all UMs carry somatic mutations in the G-coupled proteins GNAQ and GNA11 promoting anchorage-independent growth and proliferation.About 50 % of UMs are fatal.
|
25653058 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, administration of JQ1 to mouse xenograft models of Gnaq-mutant UM resulted in significant inhibition of tumor growth.Collectively, our results define BRD4 targeting as a novel therapeutic intervention against UM with Gnaq/Gna11 mutations.
|
26397223 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNAQ and GNA11 are heterotrimeric G protein alpha subunits, which are mutated in a mutually exclusive pattern in most cases of uveal melanoma, one of the most aggressive cancers.
|
26113083 |
2015 |