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UnknownSimilarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
Not available
S-EPMC11213000 | biostudies-literature
GenomicsEndothelial GNAQ p.R183Q activates phospholipase-Cbeta3, increases angiopoietin-2 and drives formation of enlarged blood vessels
Endothelial GNAQ p.R183Q activates phospholipase-Cbeta3, increases angiopoietin-2 and drives formation of enlarged blood vessels
PRJNA777248 | ENA
UnknownEndothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.
Not available
S-EPMC8702487 | biostudies-literature
TranscriptomicsGNAQ p.R183Q endothelial cells fail to align in response to laminar shear stress and exhibit increased expression of MAPK, inflammation, and cell adhesion genes
Vascular malformations, often caused by germline and/or somatic mutations, typically arise from defects in endothelial or perivascular cell behaviors – e.g. localized vessel enlargement. A key research focus is the influence of shear stress on the development of these malformations, as normal blood ...
ORGANISM(S): Homo sapiens 
2026-08-24 | GSE306224 | GEO
TranscriptomicsEndothelial GNAQ p.R183Q activates phospholipase-Cbeta3, increases angiopoietin-2 and drives formation of enlarged blood vessels
Introduction: Capillary malformation (CM) occurs sporadically and is associated with Sturge-Weber syndrome (SWS). The somatic mosaic mutation in GNAQ (c.548GàA, p.R183Q) is enriched in endothelial cells (EC) in skin CM and SWS brain CM. Our goal was to investigate how the mutant G-protein a-q subuni...
ORGANISM(S): Homo sapiens 
2021-11-09 | GSE186998 | GEO
GenomicsGNAQ p.R183Q endothelial cells fail to align in response to laminar shear stress and exhibit increased expression of MAPK, inflammation, and cell adhesion genes
GNAQ p.R183Q endothelial cells fail to align in response to laminar shear stress and exhibit increased expression of MAPK, inflammation, and cell adhesion genes
PRJNA1309716 | ENA
UnknownSomatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.
Not available
S-EPMC11193378 | biostudies-literature
UnknownDevelopmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
Not available
S-EPMC10894004 | biostudies-literature
UnknownEndothelial <i>GNAQ</i> p.R183Q mutation confers hemoporfin-mediated photodynamic therapy resistance and drives pathological angiogenesis via the angiopoietin-2/TIE2/PI3K/AKT pathway.
Not available
S-EPMC12411732 | biostudies-literature
ProteomicsPhosphoproteomPhosphoproteomics Maps the Calcineurin-NFAT-DSCR1.4 Signaling as Druggable Axis in Gαq-R183Q–Driven Capillary Malformationsics
Vascular malformations are congenital lesions caused by somatic and germline mutations that disrupt developmental signaling pathways. Capillary malformations (CMs) typically present as port-wine stains in the skin and can also affect ocular and cerebral tissues in Sturge Weber Syndrome (SWS), leadin...
ORGANISM(S): Homo sapiens (Human) 
2026-02-04 | PXD064187 | Pride
Tacrolimus. Sturge-weber syndrome Angiogenesis Endothelial cell Gnaq p.r183q Migration Capillary malformation 
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