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Updated: Jan 15, 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

Published on: December 1, 2017

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RRP12变种与自身逆性脑形有关

Edoardo Monfrini1,2, Paola Rinchetti3, Mathieu Anheim4,5,6

  • 1Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Movement disorders : official journal of the Movement Disorder Society
|October 8, 2025
PubMed
概括

研究人员将RRP12确定为一种新型基因,导致主要的大脑化. 这一发现将遗传因素与大脑化和与之相关的神经疾病,如 dystonia 联系起来.

关键词:
现在的PFBC是什么?在RRP12中使用RRP12.大脑化的化.迪斯托尼亚 (Dystonia) 是一种精神疾病.初级家族性脑化 脑化

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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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