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Article

GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.

The Journal of investigative dermatology - 1 Apr 2024

Zecchin Davide, Knöpfel Nicole, Gluck Anna K, Stevenson Mark, Sauvadet Aimie, Polubothu Satyamaanasa, Barberan-Martin Sara, Michailidis Fanourios, Bryant Dale, Inoue Asuka, Lines Kate E, Hannan Fadil M, Semple Robert K, Thakker Rajesh V, Kinsler Veronica A

Abstract excerpt

Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in which progressive postnatal neurological deterioration led us to seek biologically targeted therapeutics. Using two cellular models, we find that disease-causing GNAQ/11 variants hyperactivate constitutive and G-protein coupled receptor ligand-induced intracellular calcium signaling in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein alpha Subunits

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Identifiers

PMID: 37802293
DOI: 10.1016/j.jid.2023.08.028
PMCID: PMC10957341

Provenance

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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