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自闭症与大脑发育

Autism and brain development.

作者信息

Walsh Christopher A, Morrow Eric M, Rubenstein John L R

机构信息

Division of Genetics, Children's Hospital Boston, Department of Neurology and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.

出版信息

Cell. 2008 Oct 31;135(3):396-400. doi: 10.1016/j.cell.2008.10.015.

DOI:10.1016/j.cell.2008.10.015
PMID:18984148
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2701104/
Abstract

Genetic studies are refining our understanding of neurodevelopmental mechanisms in autism. Some autism-related mutations appear to disrupt genes regulated by neuronal activity, which are especially important in development of the postnatal nervous system. Gene replacement studies in mice indicate that the developmental window to ameliorate symptoms may be wider than previously anticipated.

摘要

基因研究正在深化我们对自闭症神经发育机制的理解。一些与自闭症相关的突变似乎会破坏受神经元活动调控的基因,这些基因在出生后神经系统的发育中尤为重要。对小鼠的基因替代研究表明,改善症状的发育窗口期可能比之前预期的更宽。

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Autism and brain development.自闭症与大脑发育
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本文引用的文献

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Identifying autism loci and genes by tracing recent shared ancestry.通过追溯近期共同祖先来识别自闭症基因座和基因。
Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657.
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Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo.转录因子MEF2C在体内影响神经干/祖细胞的分化和成熟。
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Structural variation of chromosomes in autism spectrum disorder.自闭症谱系障碍中染色体的结构变异
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Disruption of neurexin 1 associated with autism spectrum disorder.与自闭症谱系障碍相关的神经连接蛋白1的破坏。
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Vasopressin: behavioral roles of an "original" neuropeptide.血管加压素:一种“原始”神经肽的行为作用。
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Contribution of SHANK3 mutations to autism spectrum disorder.SHANK3突变对自闭症谱系障碍的影响。
Am J Hum Genet. 2007 Dec;81(6):1289-97. doi: 10.1086/522590. Epub 2007 Oct 16.
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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.比较基因组杂交表明NRXN1和APBA2在精神分裂症中起作用。
Hum Mol Genet. 2008 Feb 1;17(3):458-65. doi: 10.1093/hmg/ddm323. Epub 2007 Nov 6.
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Attachment, aggression and affiliation: the role of oxytocin in female social behavior.依恋、攻击与亲和:催产素在雌性社会行为中的作用。
Biol Psychol. 2008 Jan;77(1):1-10. doi: 10.1016/j.biopsycho.2007.09.001. Epub 2007 Sep 6.
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MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number.甲基化CpG结合蛋白2通过调节谷氨酸能突触数量来控制兴奋性突触强度。
Neuron. 2007 Oct 4;56(1):58-65. doi: 10.1016/j.neuron.2007.08.018.
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