Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of clinical pathology"
DOI: 10.1093/ajcp/aqac019
Abstract: OBJECTIVES To identify therapeutic targets and correlate with clinical outcomes from mutation profiling of metastatic uveal melanoma (UM) using next-generation sequencing (NGS). METHODS Melanoma cases that were tested using DNA-based NGS panels of 25 and/or… read more here.
Keywords: melanoma; bap1; coexisting bap1; bap1 sf3b1 ... See more keywords
Developmental Expression of the Sturge-Weber Syndrome-associated Genetic Mutation in Gnaq: a Formal Test of Happle's Paradominant Inheritance Hypothesis.
Sign Up to like & getrecommendations! Published in 2023 at "Genetics"
DOI: 10.1093/genetics/iyad077
Abstract: Sturge-Weber Syndrome (SWS) is a sporadic (non-inherited) syndrome characterized by capillary vascular malformations in the facial skin, leptomeninges, or the choroid. A hallmark feature is the mosaic nature of the phenotype. SWS is caused by… read more here.
Keywords: paradominant inheritance; sws; expression; happle ... See more keywords
Synthetic Lethal Screens Reveal Cotargeting FAK and MEK as a Multimodal Precision Therapy for GNAQ-Driven Uveal Melanoma
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-20-3363
Abstract: Purpose: Uveal melanoma is the most common eye cancer in adults. Approximately 50% of patients with uveal melanoma develop metastatic uveal melanoma (mUM) in the liver, even after successful treatment of the primary lesions. mUM… read more here.
Keywords: uveal melanoma; mek; synthetic lethal; fak ... See more keywords
Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
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DOI: 10.1161/atvbaha.121.316651
Abstract: Supplemental Digital Content is available in the text. Objective: Capillary malformation (CM) occurs sporadically and is associated with Sturge-Weber syndrome. The somatic mosaic mutation in GNAQ (c.548G>A, p.R183Q) is enriched in endothelial cells (ECs) in… read more here.
Keywords: blood vessels; angpt2 angiopoietin; enlarged blood; r183q ... See more keywords
Identification and expression analysis of zebrafish gnaq in the hypothalamic–Pituitary–Gonadal axis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1015796
Abstract: The G proteins have emerged as essential molecular switches in a wide variety of signal transduction pathways. Gαq, encoded by G protein subunit alpha q (gnaq), is a member of the G proteins and participates… read more here.
Keywords: identification expression; expression analysis; expression; analysis zebrafish ... See more keywords
Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib
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DOI: 10.3390/cancers14020413
Abstract: Simple Summary Mutations in GNAQ underlie vascular malformations, including Sturge-Weber disease. In order to develop novel therapies for lesions with mutant GNAQ, we introduced mutant GNAQ into MS1 endothelial cells. Mutant GNAQ conferred a novel… read more here.
Keywords: imatinib; vascular malformations; gnaq; sturge weber ... See more keywords
The GNAQ T96S Mutation Affects Cell Signaling and Enhances the Oncogenic Properties of Hepatocellular Carcinoma
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DOI: 10.3390/ijms22063284
Abstract: Hepatocellular carcinoma (HCC), the most common malignant tumor in the liver, grows and metastasizes rapidly. Despite advances in treatment modalities, the five-year survival rate of HCC remains less than 30%. We sought genetic mutations that… read more here.
Keywords: hepatocellular carcinoma; hcc; gnaq t96s; t96s mutation ... See more keywords