|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity.
|
30853154 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study investigates the presence of GNAQ mutations in diffuse (those associated with Sturge-Weber syndrome [SWS]) and solitary choroidal hemangiomas.
|
30537484 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge-Weber syndrome.
|
30422215 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The maximum shear wave speed (SWS-max), the mean SWS (SWS-mean), the minimum SWS (SWS-min), the lesion-to-fat SWS ratio (SWS-L/F), and the lesion-to-gland SWS ratio (SWS-L/G) in malignant lesions were significantly higher than those in benign lesions (all P < 0.001).
|
30599880 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge-Weber syndrome (SWS) capillary malformations.
|
30870248 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in GNAQ/11 were observed in 35/42 (83.3%) of primary UM.
|
31173078 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM), the most common ocular malignancy, is characterized by GNAQ/11 mutations.
|
31801083 |
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 |
AlteredExpression
|
disease |
BEFREE |
We investigated whether combining H101 with the downregulation of GNAQ expression would act synergistically in UM therapy.
|
30320917 |
2019 |
|
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 |
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 |
Tris DBA palladium is an orally available inhibitor of GNAQ mutant uveal melanoma <i>in vivo</i>.
|
31320995 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity of GNAQ/11 mutation inversely correlates with the metastatic rate in uveal melanoma.
|
31533929 |
2019 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 2013, the causative mutation underlying SWS (p.R183Q somatic activating mutation in the guanine nucleotide-binding protein alpha-q (GNAQ) gene) was identified.
|
29476210 |
2018 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ.
|
28941044 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whereas Q209L accounts for approximately half of GNAQ mutations in UM, Q209P is as frequent as Q209L and also promotes oncogenesis, but has not been characterized at the molecular level.
|
30352874 |
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 |
Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma.
|
30558566 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, GNAQ/11 mutation was genetically homogeneous between primary and metastatic melanoma lesions in uveal melanoma.
|
29361821 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM) is characterized by mutually exclusive activating mutations in GNAQ, GNA11, CYSLTR2, and PLCB4, four genes in a linear pathway to activation of PLCβ in almost all tumors and loss of BAP1 in the aggressive subset.
|
29490280 |
2018 |
|
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 |
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 |
|
Sturge-Weber Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings bring new insights on molecular etiology of vascular malformations associated to SWS and on different mechanisms underlying hyperactivation of downstream pathways to Gαq.
|
28779688 |
2017 |
|
Sturge-Weber Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ.
|
28459499 |
2017 |