ReviewFrontiers in human neuroscience2022
GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models.
Review in Frontiers in human neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.Children (Basel, Switzerland) · 2026Review
- Cutaneous laser treatment of port-wine stains and its impact on ocular manifestations in Sturge-Weber syndrome.Frontiers in ophthalmology · 2026Review
- Unraveling Novel Genetic Determinants of Thiopurine Response Via TWAS.Clinical pharmacology and therapeutics · 2026Article
- Common and distinct circulating microRNAs in four neurovascular disorders.Biochemistry and biophysics reports · 2025Article
- Sturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment.Eye and vision (London, England) · 2025Review
- Neuro-Otological Manifestations in Patients with a Hemifacial Port-Wine Stain: A Report of 2 Cases.The journal of international advanced otology · 2025Article
- Sturge-Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management.Journal of clinical medicine · 2025Review
- Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.Pigment cell & melanoma research · 2025Article
- EndothelialFrontiers in cell and developmental biology · 2025Article
- Recent progress in hematoporphyrin monomethyl ether-photodynamic therapy for port-wine stains: updates and insights.Archives of dermatological research · 2024Review
- Article
- Maternal history of angioma is associated with infantile hemangioma and port-wine stain in children: a population-based, cohort study of mother-child pairs from the United Kingdom.Archives of dermatological research · 2024Article
- Port Wine Birthmark Therapy: A New Direction.Lasers in surgery and medicine · 2024Article
- Towards precision medicine in vascular anomalies: Could protein kinase C inhibitors be repurposed for GNAQ/11-related phakomatoses?Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024Article
- Sturge-Weber syndrome: an update for the pediatrician.World journal of pediatrics : WJP · 2024Review
- Article
- Concurrent Occurrence of Port-Wine Stain and Glaucoma in Sturge-Weber Syndrome: A Case Report.Cureus · 2023Article
- Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache.The application of clinical genetics · 2023Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Port-wine birthmarks (PWBs) are caused by somatic, mosaic mutations in the G protein guanine nucleotide binding protein alpha subunit q (GNAQ) and are characterized by the formation of dilated, dysfunctional blood vessels in the dermis, eyes, and/or brain. Cutaneous PWBs can be treated by current dermatologic therapy, like laser intervention, to lighten the lesions and diminish nodules that occur in the lesion. Involvement of the eyes and/or brain can result in serious complications and this variation is termed Sturge-Weber syndrome (SWS). Some of the biggest hurdles preventing development of new therapeutics are unanswered questions regarding disease biology and lack of models for drug screening. In this review, we discuss the current understanding of GNAQ signaling, the standard of care for patients, overlap with other GNAQ-associated or phenotypically similar diseases, as well as deficiencies in current
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.