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智力残疾遗传基础的理解进展。

Advances in understanding - genetic basis of intellectual disability.

作者信息

Chiurazzi Pietro, Pirozzi Filomena

机构信息

Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.

Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

出版信息

F1000Res. 2016 Apr 7;5. doi: 10.12688/f1000research.7134.1. eCollection 2016.

Abstract

Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with other mental conditions like attention deficit/hyperactivity disorder and autism spectrum disorder, and can be part of a malformation syndrome that affects other organs. Considering the heterogeneity of its causes (environmental and genetic), its frequency worldwide varies greatly. This review focuses on known genes underlying (syndromic and non-syndromic) intellectual disability, it provides a succinct analysis of their Gene Ontology, and it suggests the use of transcriptional profiling for the prioritization of candidate genes.

摘要

智力残疾是最常见的发育障碍,其特征是智力功能和适应性行为存在先天性限制。它常与其他精神疾病如注意力缺陷多动障碍和自闭症谱系障碍同时出现,并且可能是影响其他器官的畸形综合征的一部分。鉴于其病因(环境和遗传)的异质性,其在全球的发病率差异很大。本综述聚焦于(综合征型和非综合征型)智力残疾相关的已知基因,对其基因本体进行了简要分析,并建议使用转录谱分析对候选基因进行优先级排序。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7fa/4830215/88e3f2d4017b/f1000research-5-7684-g0000.jpg

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