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Updated: Jul 12, 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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在CASP2中双基切断变体是神经发育障碍的基础,其中包括lissencephaly

Eyyup Uctepe1, Barbara Vona2,3, Fatma Nisa Esen4

  • 1Acibadem Ankara Tissue Typing Laboratory, Ankara, Türkiye.

European journal of human genetics : EJHG
|October 25, 2023
PubMed
概括

在CASP2的遗传变异与Lissencephaly (LIS),一个大脑形有关. 这一发现扩大了对LIS原因的理解,并突出了PIDDosome复合体.

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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 Malformations08:22

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