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先天性眼畸形的遗传学:鸡胚实验胚胎学的启示。

Genetics of congenital eye malformations: insights from chick experimental embryology.

机构信息

Centro de Biología Molecular "Severo Ochoa," (CSIC/UAM), 28049, Madrid, Spain.

CIBERER, ISCIII, 28049, Madrid, Spain.

出版信息

Hum Genet. 2019 Sep;138(8-9):1001-1006. doi: 10.1007/s00439-018-1900-5. Epub 2018 Jul 6.

Abstract

Embryological manipulations in chick embryos have been pivotal in our understanding of many aspects of vertebrate eye formation. This research was particularly important in uncovering the role of tissue interactions as drivers of eye morphogenesis and to dissect the function of critical genes. Here, we have highlighted a few of these past experiments to endorse their value in searching for hitherto unknown causes of rare congenital eye anomalies, such as microphthalmia, anophthalmia and coloboma. We have also highlighted a number of similarities between the chicken and human eye, which might be exploited to address other eye pathologies, including degenerative ocular diseases.

摘要

鸡胚胚胎学操作在我们对脊椎动物眼睛形成的许多方面的理解中起到了关键作用。这项研究对于揭示组织相互作用作为眼睛形态发生的驱动因素以及剖析关键基因的功能特别重要。在这里,我们强调了其中的一些过去的实验,以支持它们在寻找微眼症、无眼症和视网膜裂孔等罕见先天性眼部异常的未知原因方面的价值。我们还强调了鸡眼和人眼之间的一些相似之处,这些相似之处可能被利用来解决其他眼部疾病,包括退行性眼部疾病。

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