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Article

Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms.

Journal of the American Heart Association - 16 Sept 2025

Karasozen Yigit, McAvoy Malia, Parada Carolina A, Busald Tina, Kondaboina Shruthi, Osbun Joshua W, Ruzevick Jacob, Levitt Michael R, Gonzalez-Cuyar Luis F, Kim Louis J, Dorschner Michael O, Ferreira Manuel

Abstract excerpt

BACKGROUND: Subarachnoid hemorrhage from ruptured saccular intracranial aneurysms (IAs) is fatal in ≈50% of cases. Significant effort has been devoted to identifying the molecular pathogenesis of IAs to develop new therapies to treat or halt the progression of IAs. METHODS: Paired deep whole-exome sequencing was performed on the walls of sporadic IAs in a discovery set of 11 sporadic IAs from 10 unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40932096
DOI: 10.1161/JAHA.123.032483
PMCID: PMC12554418

Genes

COL4A5
COL4A1
DCC
FBN1
MLH1
MMP8
PABIR3
PKD1
PTCH1
XDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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