期刊
NATURE REVIEWS GENETICS
卷 20, 期 1, 页码 51-63出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41576-018-0066-2
关键词
-
资金
- Canadian Institutes of Health Research (CIHR)
- Simons Foundation
- CIHR scholarship
- Ontario Graduate Scholarship
Heredity has a major role in autism spectrum disorder (ASD), yet underlying causal genetic variants have been defined only in a fairly small subset of cases. The enormous genetic heterogeneity associated with ASD emphasizes the importance of identifying convergent pathways and molecular mechanisms that are responsible for this disorder. We review how recent transcriptomic analyses have transformed our understanding of pathway convergence in ASD. In particular, deep RNA sequencing coupled with downstream investigations has revealed that a substantial fraction of autistic brains possess distinct transcriptomic signatures. These signatures are in part a consequence of altered neuronal activity and have a particular impact on pre-mRNA alternative splicing patterns.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据