Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Journal of human genetics - 1 Dec 2014

Nakashima Mitsuko, Miyajima Masakazu, Sugano Hidenori, Iimura Yasushi, Kato Mitsuhiro, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Arai Hajime, Matsumoto Naomichi

Abstract excerpt

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to GTP-Binding Protein alpha Subunits

Share to GTP-Binding Protein alpha Subunits, Gq-G11

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Source

Identifiers

PMID: 25374402
DOI: 10.1038/jhg.2014.95

Genes

GNAQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25374402-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.PMID 25374402Read ↗

Novel genetic mutations in a sporadic port-wine stain.Semantic proximity Read ↗

Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.Semantic proximity Read ↗

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.Semantic proximity Read ↗

Genetic Variants Associated with Port-Wine Stains.Semantic proximity Read ↗

A somatic missense mutation in GNAQ causes capillary malformationSemantic proximity Read ↗

The somatic GNAQ mutation (R183Q) is primarily located within the blood vessels of port wine stainsSemantic proximity Read ↗

Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCRSemantic proximity Read ↗

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.Semantic proximity Read ↗

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.Semantic proximity Read ↗

Sturge-Weber syndrome.Semantic proximity Read ↗

Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome.Semantic proximity Read ↗

GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.