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Updated: Jul 23, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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编码DExH盒酶DHX9的基因DHX9的单基因变异,是神经发育障碍和查洛特玛丽牙病的基础

Daniel G Calame1, Tianyu Guo2, Chen Wang2

  • 1Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

American journal of human genetics
|July 19, 2023
PubMed
概括

在DHX9基因的遗传变异与神经发育障碍和Charcot-Marie-Tooth疾病有关. 这项研究确定了新的DHX9变体,并探索了它们对细胞和生物体的影响,确定了DHX9对大脑发育和神经元健康至关重要.

关键词:
查洛特-玛丽-牙病是一种疾病.DExD/H-盒RNA旋酶的使用方法在 DHX9 DHX9修复DNA损伤的修复在R-Loop中使用.一系列的等位基因序列.是一种.同类的重组组合.神经发育障碍 神经发育障碍神经病变是一种神经病变.

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