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Updated: Apr 30, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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EndMTは,脳洞穴性異常の発生と進行に寄与する

Luigi Maddaluno1, Noemi Rudini, Roberto Cuttano

  • 1IFOM Fondazione, FIRC Institute of Molecular Oncology, 20139 Milan, Italy. uigi.maddaluno@ifom.eu

Nature
|June 11, 2013
PubMed
まとめ

Cerebral cavernous malformation (CCM) は,CCM遺伝子の変異によって引き起こされる脳血管の欠陥を伴うものです. この研究では,TGF-βとBMPのシグナル伝達を阻害することで,内皮からメゼンキマへの移行を防止し,CCM病変の発生を減少させることが明らかになりました.

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Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

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Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

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