人类小脑发育和转录组学:对神经发育障碍的影响。

IF 12.1 1区 医学 Q1 NEUROSCIENCES Annual review of neuroscience Pub Date : 2022-07-08 DOI:10.1146/annurev-neuro-111020-091953
Parthiv Haldipur, Kathleen J Millen, Kimberly A Aldinger
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引用次数: 13

摘要

小脑发育异常是人类产前成像中最常见的脑结构畸形。然而,关于其在人类中的病因的可靠信息很少,并且很少有结果研究可用于告知预后。我们对人类小脑的发育知之甚少,这与几十年来对模式生物,特别是小鼠小脑发育生物学的丰富研究形成鲜明对比。最近的研究表明,人类小脑发育的多个方面与小鼠甚至恒河猴(一种非人灵长类动物)有显著差异。这些发现挑战了目前许多以小鼠为中心的正常人类小脑发育模型,以及影响小脑的几种神经发育表型的发病机制模型,包括Dandy-Walker畸形和成神经管细胞瘤。由于我们无法建立我们不知道的模型,额外的规范和病理的人类发育数据是必不可少的,并且需要新的模型。
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Human Cerebellar Development and Transcriptomics: Implications for Neurodevelopmental Disorders.

Developmental abnormalities of the cerebellum are among the most recognized structural brain malformations in human prenatal imaging. Yet reliable information regarding their cause in humans is sparse, and few outcome studies are available to inform prognosis. We know very little about human cerebellar development, in stark contrast to the wealth of knowledge from decades of research on cerebellar developmental biology of model organisms, especially mice. Recent studies show that multiple aspects of human cerebellar development significantly differ from mice and even rhesus macaques, a nonhuman primate. These discoveries challenge many current mouse-centric models of normal human cerebellar development and models regarding the pathogenesis of several neurodevelopmental phenotypes affecting the cerebellum, including Dandy-Walker malformation and medulloblastoma. Since we cannot model what we do not know, additional normative and pathological human developmental data are essential, and new models are needed.

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来源期刊
Annual review of neuroscience
Annual review of neuroscience 医学-神经科学
CiteScore
25.30
自引率
0.70%
发文量
29
期刊介绍: The Annual Review of Neuroscience is a well-established and comprehensive journal in the field of neuroscience, with a rich history and a commitment to open access and scholarly communication. The journal has been in publication since 1978, providing a long-standing source of authoritative reviews in neuroscience. The Annual Review of Neuroscience encompasses a wide range of topics within neuroscience, including but not limited to: Molecular and cellular neuroscience, Neurogenetics, Developmental neuroscience, Neural plasticity and repair, Systems neuroscience, Cognitive neuroscience, Behavioral neuroscience, Neurobiology of disease. Occasionally, the journal also features reviews on the history of neuroscience and ethical considerations within the field.
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