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Article

GNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Sept 2023

Huang Lulu, Sun Hao, Liu Yixin, Xu Li, Hu Menghan, Yang Yijie, Wang Ning, Wu Yue, Guo Wenyi

Abstract excerpt

Episcleral vasculature malformation is a significant feature of Sturge-Weber syndrome (SWS) secondary glaucoma, the density and diameter of which are correlated with increased intraocular pressure. We previously reported that the GNAQ R183Q somatic mutation was located in the SWS episclera. However, the mechanism by which GNAQ R183Q leads to episcleral vascular malformation remains poorly understood. In this...

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Identifiers

PMID: 37606556
DOI: 10.1096/fj.202300608R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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