Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.
Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.
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DOI：
10.1016/j.spen.2009.06.003
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发表时间：
2009-09
影响因子：
2.7
通讯作者：
Millen, Kathleen J.
中科院分区：
文献类型：
--
作者：
Aldinger, Kimberly A.;Elsen, Gina E.;Prince, Victoria E.;Millen, Kathleen J.
人类后脑（包括小脑）的先天性畸形，很大程度上还不清楚，因为它们的识别是成像诊断的一个相对较新的进展。小脑畸形是最明显和最好的特点，后脑畸形，由于其相对容易通过MRI和最近确定的几个致病基因。脑桥和延髓的畸形也被描述为孤立的和与小脑畸形相关的。虽然很少有人了解具体的发育病理学背后的后脑畸形在人类，很多是已知的机制和基因驱动后脑发育的脊椎动物模式生物。因此，在脊椎动物模型中的研究提供了一个发育框架，在其中对人类后脑畸形进行分类，并为我们关于发育过程中断和候选基因的思考提供信息。在这里，我们调查的脊椎动物后脑发育的基本原则，并整合我们目前的知识，人类后脑畸形到这个框架。
Congenital malformations the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease to view by MRI and the recent identification of several causative genes. Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar malformations. Although little is understood regarding the specific developmental pathologies underlying hindbrain malformations in humans, much is known regarding the mechanisms and genes driving hindbrain development in vertebrate model organisms. Thus, studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding disrupted developmental processes and candidate genes. Here we survey the basic principles of vertebrate hindbrain development and integrate our current knowledge of human hindbrain malformations into this framework.
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影响因子：
30.8
作者：
Aldinger, Kimberly A.;Lehmann, Ordan J.;Hudgins, Louanne;Chizhikov, Victor V.;Bassuk, Alexander G.;Ades, Lesley C.;Krantz, Ian D.;Dobyns, William B.;Millen, Kathleen J.
通讯作者：
Millen, Kathleen J.
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Chizhikov, Victor V.;Lindgren, Anne G.;Millen, Kathleen J.
通讯作者：
Millen, Kathleen J.
影响因子：
64.5
作者：
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通讯作者：
Katsanis N