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类器官作为研究神经管缺陷的新型模型系统。

Organoids as a new model system to study neural tube defects.

作者信息

Wu Yu, Peng Sisi, Finnell Richard H, Zheng Yufang

机构信息

Department of Cellular and Developmental Biology, School of life sciences, Fudan University, Shanghai, China.

Obstetrics & Gynecology Hospital, The institute of Obstetrics and Gynecology, Fudan University, Shanghai, China.

出版信息

FASEB J. 2021 Apr;35(4):e21545. doi: 10.1096/fj.202002348R.

DOI:10.1096/fj.202002348R
PMID:33729606
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9189980/
Abstract

The neural tube is the first critically important structure that develops in the embryo. It serves as the primordium of the central nervous system; therefore, the proper formation of the neural tube is essential to the developing organism. Neural tube defects (NTDs) are severe congenital defects caused by failed neural tube closure during early embryogenesis. The pathogenesis of NTDs is complicated and still not fully understood even after decades of research. While it is an ethically impossible proposition to investigate the in vivo formation process of the neural tube in human embryos, a newly developed technology involving the creation of neural tube organoids serves as an excellent model system with which to study human neural tube formation and the occurrence of NTDs. Herein we reviewed the recent literature on the process of neural tube formation, the progress of NTDs investigations, and particularly the exciting potential to use neural tube organoids to model the cellular and molecular mechanisms underlying the etiology of NTDs.

摘要

神经管是胚胎中第一个至关重要的发育结构。它是中枢神经系统的原基;因此,神经管的正常形成对发育中的生物体至关重要。神经管缺陷(NTDs)是早期胚胎发育过程中神经管闭合失败导致的严重先天性缺陷。NTDs的发病机制复杂,即使经过数十年的研究仍未完全了解。虽然对人类胚胎神经管的体内形成过程进行研究在伦理上是不可能的,但一项新开发的涉及创建神经管类器官的技术,是研究人类神经管形成和NTDs发生的优秀模型系统。在此,我们综述了关于神经管形成过程、NTDs研究进展的最新文献,特别是利用神经管类器官模拟NTDs病因的细胞和分子机制的令人兴奋的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/e713d1777c39/nihms-1813142-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/33e84f61da1b/nihms-1813142-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/1cdae03aed2c/nihms-1813142-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/e713d1777c39/nihms-1813142-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/33e84f61da1b/nihms-1813142-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/1cdae03aed2c/nihms-1813142-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbf8/9189980/e713d1777c39/nihms-1813142-f0003.jpg

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本文引用的文献

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Science. 2020 Dec 11;370(6522). doi: 10.1126/science.aba4937.
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Functional Validation of Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects.神经管缺陷队列中鉴定出的变异体的功能验证证明了它们对神经管缺陷的影响。
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A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.
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Maternal Smoking during Pregnancy and its effects on Neural Tube Defects.孕期母亲吸烟及其对神经管缺陷的影响。
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