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

Somatic mutations in intracranial arteriovenous malformations.

PloS one - 1 Jan 2019

Goss Jeremy A, Huang August Y, Smith Edward, Konczyk Dennis J, Smits Patrick J, Sudduth Christopher L, Stapleton Christopher, Patel Aman, Alexandrescu Sanda, Warman Matthew L, Greene Arin K

Abstract excerpt

BACKGROUND: Intracranial arteriovenous malformation (AVM) is a common cause of primary intracerebral hemorrhage in young adults. Lesions typically are sporadic and contain somatic mutations in KRAS or BRAF. The purpose of this study was to identify somatic mutations in a cohort of participants with brain AVM and to determine if any genotype-phenotype associations exist. METHODS: Human brain AVM specimens (n = 16)...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endothelial Cells

Share to Genetic Association Studies

Share to Intracranial Arteriovenous Malformations

Share to Proto-Oncogene Proteins B-raf

Share to Proto-Oncogene Proteins p21(ras)

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 31891627
DOI: 10.1371/journal.pone.0226852
PMCID: PMC6938308

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mutations in intracranial arteriovenous malformations.PMID 31891627Read ↗

Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.Semantic proximity Read ↗

High prevalence of KRAS/BRAF somatic mutations in brain and spinal cord arteriovenous malformationsSemantic proximity Read ↗

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.Semantic proximity Read ↗

Detection rate and mutational landscape in extracranial arteriovenous malformations: a cohort study.Semantic proximity Read ↗

Advances in the Genetics and Molecular Biology of Brain Arteriovenous Malformations.Semantic proximity Read ↗

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.Semantic proximity Read ↗

KRAS/BRAF mutations in brain arteriovenous malformations: A systematic review and meta-analysis.Semantic proximity Read ↗

De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous MalformationSemantic proximity Read ↗

Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations.Semantic proximity Read ↗

Review of treatment and therapeutic targets in brain arteriovenous malformation.Semantic proximity Read ↗

Intramuscular hemangioma capillary type with HRAS mutation: Expanding the molecular genetic spectrum with an emphasis on overlap with arteriovenous malformations and distinct from infantile hemangioma.Semantic proximity Read ↗

Somatic GJA4 Mutation in Intracranial Extra-axial Cavernous HemangiomasSemantic proximity Read ↗

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