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Updated: Jun 14, 2025

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

Published on: December 1, 2017

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一种基于反感性寡核酸的策略,用于改善22q11.2删除综合征的认知功能障碍

Pratibha Thakur1, Martin Lackinger1,2, Anastasia Diamantopoulou1

  • 1Mortimer B. Zuckerman Mind Brain and Behavior Institute, Columbia University, New York, United States.

eLife
|May 27, 2025
PubMed
概括

这项研究表明,高EMC10水平有助于22q11.2删除综合征. 在神经元和小鼠模型中减少EMC10可以改善认知和神经缺陷,显示出治疗潜力.

关键词:
22q11.2 删除 删除 删除在EMC10中使用EMC10反感的寡核化物.人类 人类 人类 人类 人类 人类 人类人类的iPSC.在 miRNA 调节失调的情况下.这里是鼠标鼠标鼠标鼠标鼠标鼠标.神经科学 神经科学精确精神病学是一门精确的精神病学.精神分裂症是一种精神分裂症.

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