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自闭症谱系障碍的分子遗传学:基因组机制、神经免疫病理学及临床意义。

The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.

作者信息

Guerra Daniel J

机构信息

Veterinary and Comparative Anatomy Physiology and Pathology, College of Veterinary Medicine, Washington State University, Pullman, WA 99164, USA.

出版信息

Autism Res Treat. 2011;2011:398636. doi: 10.1155/2011/398636. Epub 2011 May 17.

Abstract

Autism spectrum disorders (ASDs) have become increasingly common in recent years. The discovery of single-nucleotide polymorphisms and accompanying copy number variations within the genome has increased our understanding of the architecture of the disease. These genetic and genomic alterations coupled with epigenetic phenomena have pointed to a neuroimmunopathological mechanism for ASD. Model animal studies, developmental biology, and affective neuroscience laid a foundation for dissecting the neural pathways impacted by these disease-generating mechanisms. The goal of current autism research is directed toward a systems biological approach to find the most basic genetic and environmental causes to this severe developmental disease. It is hoped that future genomic and neuroimmunological research will be directed toward finding the road toward prevention, treatment, and cure of ASD.

摘要

近年来,自闭症谱系障碍(ASD)越来越普遍。基因组内单核苷酸多态性及伴随的拷贝数变异的发现,增进了我们对该疾病结构的理解。这些遗传和基因组改变,再加上表观遗传现象,指向了ASD的神经免疫病理机制。模式动物研究、发育生物学和情感神经科学为剖析受这些致病机制影响的神经通路奠定了基础。当前自闭症研究的目标是采用系统生物学方法,找出这种严重发育疾病最基本的遗传和环境病因。希望未来的基因组学和神经免疫学研究能朝着找到预防、治疗和治愈ASD的方向发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99f7/3420760/6a800aef038e/AURT2011-398636.001.jpg

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