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Updated: May 28, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

8.5K

一种与智力障碍相关的新型KDM5C突变:分子机制和临床影响

Yunlong Meng1,2, Xinyao Wang1,2, Kangyu Liu1,2

  • 1Shanghai Key Laboratory of Anesthesiology and Brain Functional Modulation, Clinical Research Center for Anesthesiology and Perioperative Medicine, Translational Research Institute of Brain and Brain-Like Intelligence, Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai, 200434, China.

Italian journal of pediatrics
|February 13, 2025
PubMed
概括

一个KDM5C基因突变导致X链接智力障碍 (XLID) 破坏蛋白质水平和细胞位置. 这一发现提供了对XLID病原体和潜在治疗点的见解.

关键词:
这就是KDM5C.基因突变是一种基因突变.基因分析 基因分析标识 ID 标识 ID 标识无稽之谈介导的mRNA衰变是没有意义的.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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