ArticleThe Journal of investigative dermatology2024
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Article in The Journal of investigative dermatology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
- Analysis of Phosphorylated MEK1 Expression Pattern in Cutaneous Dilated Vessels of Capillary Malformations.The Journal of dermatology · 2026Article
- Cognitive impairment patterns and associated clinical and imaging characteristics in young patients with Sturge-Weber syndrome.Brain & development · 2026Article
- Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.Children (Basel, Switzerland) · 2026Review
- In Vitro Models of Sturge-Weber Syndrome: Strengths, Limitations, and Future Goals.International journal of molecular sciences · 2026Review
- Calcineurin-NFAT-DSCR1.4 signaling as druggable axis in Gαq-R183Q-driven capillary malformations.Angiogenesis · 2026Article
- A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain.Case reports in neurological medicine · 2026Article
- MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A Comprehensive Review of Electrolyte Imbalances and Their Applied Aspects in Dermatology.Cureus · 2025Review
- Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.Frontiers in neurology · 2025Review
- Port Wine Birthmark Therapy: A New Direction.Lasers in surgery and medicine · 2024Article
- Piecing together the mosaic of rare skin diseases: an interview with Veronica Kinsler.Disease models & mechanisms · 2024Article
- Sturge-Weber syndrome: an update for the pediatrician.World journal of pediatrics : WJP · 2024Review
- Capillary malformations.The Journal of clinical investigation · 2024Review
- GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.The Journal of investigative dermatology · 2024Article
- Sturge-Weber syndrome: updates in translational neurology.Frontiers in neurology · 2024Review
- Phenotypic Spectrum of GNA11 R183C Mosaicism.Pediatric dermatologyArticle
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
Abstract
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 endothelial cells. We go on to show that the aberrant ligand-activated intracellular calcium signal is fueled by extracellular calcium influx through calcium-release-activated channels. Treatment with targeted small interfering RNAs designed to silence the variant allele preferentially corrects both the constitutive and ligand-activated calcium signaling, whereas treatment with a calcium-release-activated channel inhibitor rescues the ligand-activated signal. This work identifies hyperactivated calcium signaling as the primary biological abnormality in GNAQ/11 mosaicism and paves the way for clinical trials with genetic or small molecule therapies.
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Registered trials
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