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Mouse Models of Syndromic Craniosynostosis.
Molecular Syndromology ( IF 1.1 ) Pub Date : 2019-04-13 , DOI: 10.1159/000491004
Kevin K L Lee 1 , Philip Stanier 1 , Erwin Pauws 1
Affiliation  

Craniosynostosis is a common craniofacial birth defect. This review focusses on the advances that have been achieved through studying the pathogenesis of craniosynostosis using mouse models. Classic methods of gene targeting which generate individual gene knockout models have successfully identified numerous genes required for normal development of the skull bones and sutures. However, the study of syndromic craniosynostosis has largely benefited from the production of knockin models that precisely mimic human mutations. These have allowed the detailed investigation of downstream events at the cellular and molecular level following otherwise unpredictable gain-of-function effects. This has greatly enhanced our understanding of the pathogenesis of this disease and has the potential to translate into improvement of the clinical management of this condition in the future.

中文翻译:

颅骨突触综合征的小鼠模型。

颅骨前突是常见的颅面先天性缺陷。这篇综述集中在通过使用小鼠模型研究颅突神经病的发病机理所取得的进展。生成单个基因敲除模型的经典基因靶向方法已成功鉴定出颅骨和缝线正常发育所需的众多基因。但是,对综合征性颅脑前突的研究在很大程度上得益于精确模拟人类突变的敲入模型的产生。这些已经使得在细胞和分子水平上对下游事件的详细研究成为可能,而这些事件原本是不可预测的功能获得效应。
更新日期:2019-11-01
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