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

GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.

American journal of human genetics - 11 Jul 2024

Ren Jian, Cui Ziwei, Jiang Chendan, Wang Leiming, Guan Yunqian, Ren Yeqing, Zhang Shikun, Tu Tianqi, Yu Jiaxing, Li Ye, Duan Wanru, Guan Jian, Wang Kai, Zhang Hongdian, Xing Dong, Kahn Mark L, Zhang Hongqi, Hong Tao

Abstract excerpt

Extra-axial cavernous hemangiomas (ECHs) are complex vascular lesions mainly found in the spine and cavernous sinus. Their removal poses significant risk due to their vascularity and diffuse nature, and their genetic underpinnings remain incompletely understood. Our approach involved genetic analyses on 31 tissue samples of ECHs employing whole-exome sequencing and targeted deep sequencing. We explored downstream...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits

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

Share to Signal Transduction

Share to Sirolimus

Share to TOR Serine-Threonine Kinases

Source

Open in PubMed Open full text

Identifiers

PMID: 38917801
DOI: 10.1016/j.ajhg.2024.05.020
PMCID: PMC11267519

Genes

GNAQ
GNA14
GJA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.PMID 38917801Read ↗

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

Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.Semantic proximity Read ↗

GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation.Semantic proximity Read ↗

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformationSemantic proximity Read ↗

Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 casesSemantic proximity Read ↗

GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular TumorsSemantic proximity Read ↗

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)Semantic proximity Read ↗

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.Semantic proximity Read ↗

Diffuse bone and soft tissue angiomatosis with GNAQ mutation.Semantic proximity Read ↗

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

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center StudySemantic proximity Read ↗

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.Semantic proximity Read ↗

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