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三重神经管缺陷的胚胎发生: sonic hedgehog——关键因素?

Embryogenesis of triple neural tube defects: sonic hedgehog--a key?

机构信息

Department of Pediatric Surgery, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India.

出版信息

J Pediatr Surg. 2011 Feb;46(2):e5-8. doi: 10.1016/j.jpedsurg.2010.09.103.

DOI:10.1016/j.jpedsurg.2010.09.103
PMID:21292070
Abstract

Neural tube closure is a complex spatio-temporal process. Multiple neural tube defects (NTDs) in a single patient are extremely rare. Only a few cases of multiple NTDs have been reported in the world literature, including less than 20 cases of double NTDs and 3 cases of triple NTDs. We report a fourth case of triple NTDs and review the literature regarding the embryogenesis. An effort is made to understand the theories of neural tube closure in light of recent advances in molecular biology and identification of the signaling pathways involved.

摘要

神经管闭合是一个复杂的时空过程。单个患者中出现多种神经管缺陷(NTD)极为罕见。全世界文献中仅报道了少数几种多发性 NTD 病例,包括少于 20 例的双发性 NTD 和 3 例的多发性 NTD。我们报告了第四例多发性 NTD,并对胚胎发生的文献进行了回顾。鉴于分子生物学的最新进展和涉及的信号通路的鉴定,我们努力理解神经管闭合的理论。

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Embryogenesis of triple neural tube defects: sonic hedgehog--a key?三重神经管缺陷的胚胎发生: sonic hedgehog——关键因素?
J Pediatr Surg. 2011 Feb;46(2):e5-8. doi: 10.1016/j.jpedsurg.2010.09.103.
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Triple neural tube defect and the multisite closure theory for neural tube defects: is there an additional site? Case report.神经管缺陷三联征与神经管缺陷的多部位闭合理论:是否存在额外的部位?病例报告。
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Toward understanding the genetic basis of neural tube defects.迈向理解神经管缺陷的遗传基础。
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Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly.神经管缺陷遗传背景的最新观点,特别关注脊柱裂无脑畸形。
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Genetics and development of neural tube defects.神经管缺陷的遗传学与发育。
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Neural tube defects at separate sites: further evidence in support of multi-site closure of the neural tube in humans.神经管在不同部位的缺陷:支持人类神经管多部位闭合的进一步证据。
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A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.对平面细胞极性基因缺陷导致人类神经管缺陷病因的证据的思考。
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Planar cell polarity genes and neural tube closure.平面细胞极性基因与神经管闭合
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引用本文的文献

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Mar Drugs. 2021 Jun 2;19(6):322. doi: 10.3390/md19060322.
2
A case report of triple neural tube defect: revisiting the multisite closure theory.一例三重神经管缺陷病例报告:重新审视多部位闭合理论。
BMC Surg. 2019 Nov 6;19(1):164. doi: 10.1186/s12893-019-0633-2.
3
Multiple neural tube defects may not be very rare.多个神经管缺陷可能并非十分罕见。
Childs Nerv Syst. 2013 Apr;29(4):609-19. doi: 10.1007/s00381-012-1976-5. Epub 2012 Dec 4.