Novel approaches to studying the genetic basis of cerebellar development.

Novel approaches to studying the genetic basis of cerebellar development.
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DOI:
10.1007/s12311-010-0169-6
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发表时间:
2010-09
期刊:
影响因子:
3.5
通讯作者:
Millen, Kathleen J.
Millen, Kathleen J.
中科院分区:
医学3区
文献类型:
--
作者:
Sajan, Samin A.;Waimey, Kathryn E.;Millen, Kathleen J.

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突变时会导致小脑发育中断的基因列表正在迅速增加。对自发和工程小鼠突变体的研究对于这一进展至关重要,因为它揭示了我们目前对构建成熟小脑所需发育过程的大部分理解。脑成像技术的进步,例如磁共振成像(MRI)和更好的人类小脑畸形分类方案的出现,最近导致了许多导致人类小脑疾病的基因的鉴定。在这篇综述中,我们认为,结合经典分子技术、基因组学和人类畸形小鼠模型的协同方法对于推动小脑发育基因和机制的进一步发现至关重要。
The list of genes that when mutated cause disruptions in cerebellar development is rapidly increasing. The study of both spontaneous and engineered mouse mutants has been essential to this progress, as it has revealed much of our current understanding of the developmental processes required to construct the mature cerebellum. Improvements in brain imaging, such as magnetic resonance imaging (MRI) and the emergence of better classification schemes for human cerebellar malformations, have recently led to the identification of a number of genes which cause human cerebellar disorders. In this review we argue that synergistic approaches combining classical molecular techniques, genomics, and mouse models of human malformations will be essential to fuel additional discoveries of cerebellar developmental genes and mechanisms.
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