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Article

Advances in the Genetics and Molecular Biology of Brain Arteriovenous Malformations.

Translational stroke research - 18 Apr 2026

Tsuchiya Takahiro, Miyawaki Satoru, Ono Hideaki, Hongo Hiroki, Ogawa Shotaro, Sakai Yu, Hirano Yudai, Sato Daisuke, Hirata So, Koizumi Satoshi, Saito Nobuhito

Abstract excerpt

Brain arteriovenous malformations (bAVMs) are high-flow vascular lesions characterized by direct arteriovenous shunting without an intervening capillary bed. The identification of somatic KRAS and BRAF mutations in sporadic bAVM endothelial cells (ECs) has fundamentally reshaped current understanding of bAVM biology, indicating that activation of the RAS/MAPK pathway drives aberrant angiogenic programs. In...

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Identifiers

PMID: 41999461
DOI: 10.1007/s12975-026-01436-7
PMCID: PMC13091888

Genes

BRAF
KRAS

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