Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

doi:10.1007/s10456-022-09846-5

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

Community

Back to search

Article

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

Angiogenesis - 1 Feb 2023

Hongo Hiroki, Miyawaki Satoru, Teranishi Yu, Mitsui Jun, Katoh Hiroto, Komura Daisuke, Tsubota Kinya, Matsukawa Takashi, Watanabe Masakatsu, Kurita Masakazu, Yoshimura Jun, Dofuku Shogo, Ohara Kenta, Ishigami Daiichiro, Okano Atsushi, Kato Motoi, Hakuno Fumihiko, Takahashi Ayaka, Kunita Akiko, Ishiura Hiroyuki, Shin Masahiro, Nakatomi Hirofumi, Nagao Toshitaka, Goto Hiroshi, Takahashi Shin-Ichiro, Ushiku Tetsuo, Ishikawa Shumpei, Okazaki Mutsumi, Morishita Shinichi, Tsuji Shoji, Saito Nobuhito

Abstract excerpt

Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > T (p.Gly41Cys) in GJA4, which encodes a transmembrane protein that is a component of gap junctions and hemichannels in the vascular system, in OCVM tissues from 25/26 (96.2%) individuals with OCVM. GJA4...

Read the complete abstract on PubMed

Topics

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

Share to Endothelial Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gain of Function Mutation

Share to Gap Junctions

Share to Mutation

Share to Vascular Malformations

Share to Vascular Malformations and Hemangiomas

Share to Vascular Malformations Diagnosis and Treatment

Share to Veins

Source

Open in PubMed Open full text

Identifiers

PMID: 35902510
DOI: 10.1007/s10456-022-09846-5
PMCID: PMC9908695

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.PMID 35902510Read ↗

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

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

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

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jawSemantic proximity Read ↗

Mutations in MC4R facilitate the angiogenic activity in patients with orbital venous malformation.Semantic proximity Read ↗

A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.Semantic proximity Read ↗

A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.Semantic proximity Read ↗

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.Semantic proximity Read ↗

Association of ACVRL1 Genetic Polymorphisms with Arteriovenous Malformations: A Case-Control Study and Meta-Analysis.Semantic proximity Read ↗

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