Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

doi:10.1016/j.ajhg.2017.12.006

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

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

American journal of human genetics - 4 Jan 2018

Bourcier Romain, Le Scouarnec Solena, Bonnaud Stéphanie, Karakachoff Matilde, Bourcereau Emmanuelle, Heurtebise-Chrétien Sandrine, Menguy Céline, Dina Christian, Simonet Floriane, Moles Alexis, Lenoble Cédric, Lindenbaum Pierre, Chatel Stéphanie, Isidor Bertrand, Génin Emmanuelle, Deleuze Jean-François, Schott Jean-Jacques, Le Marec Hervé, Loirand Gervaise, Desal Hubert, Redon Richard

Abstract excerpt

Intracranial aneurysms (IAs) are acquired cerebrovascular abnormalities characterized by localized dilation and wall thinning in intracranial arteries, possibly leading to subarachnoid hemorrhage and severe outcome in case of rupture. Here, we identified one rare nonsense variant (c.1378A>T) in the last exon of ANGPTL6 (Angiopoietin-Like 6)-which encodes a circulating pro-angiogenic factor mainly secreted from...

Read the complete abstract on PubMed

Topics

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

Share to Angiopoietin-like Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cells, Cultured

Share to Codon, Nonsense

Share to Family

Share to HEK293 Cells

Share to Intracranial Aneurysm

Share to Open Reading Frames

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 29304371
DOI: 10.1016/j.ajhg.2017.12.006
PMCID: PMC5778084

Genes

ANGPTL6

Variants

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

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.PMID 29304371Read ↗

ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.Semantic proximity Read ↗

ANGPTL6 variant induces cerebral vascular dysfunction and predisposes to intracranial aneurysm in miceSemantic proximity Read ↗

Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?Semantic proximity Read ↗

Genetic factors involves in intracranial aneurysms--actualities.Semantic proximity Read ↗

Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.Semantic proximity Read ↗

Genetic study of intracranial aneurysms.Semantic proximity Read ↗

Integrative genomics analysis implicates decreased <i>FGD6</i> expression underlying risk of intracranial aneurysm ruptureSemantic proximity Read ↗

Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility: A Meta-Analysis.Semantic proximity Read ↗

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.Semantic proximity Read ↗

Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms.Semantic proximity Read ↗

Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure.Semantic proximity Read ↗

A variant in the endoglin gene is associated with the development of sporadic intracranial aneurysms.Semantic proximity Read ↗

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