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神经管缺陷的分子机制是什么?

What are the molecular mechanisms of neural tube defects?

作者信息

Corcoran J

机构信息

Developmental Biology Research Centre, Randall Institute, London, United Kingdom.

出版信息

Bioessays. 1998 Jan;20(1):6-8. doi: 10.1002/(SICI)1521-1878(199801)20:1<6::AID-BIES3>3.0.CO;2-T.

DOI:10.1002/(SICI)1521-1878(199801)20:1<6::AID-BIES3>3.0.CO;2-T
PMID:9504042
Abstract

Neural tube defects (NTDs) are some of the most common human malformations. The vast majority of NTDs can be prevented by the administration of folic acid; however, to date there has been no effective treatment of folic acid-resistant NTDs. A recent paper has confirmed an earlier report that the administration of inositol to the curly tail mutant mouse, which is a model of folate-resistant NTDs, can cure such defects. The molecular pathway by which this is achieved is thought to occur by the up-regulation of the retinoic acid receptor beta in the underlying hindgut endoderm, correcting a proliferation defect. However, alternative explanations also may account for NTDs.

摘要

神经管缺陷(NTDs)是一些最常见的人类畸形。绝大多数神经管缺陷可以通过服用叶酸来预防;然而,迄今为止,对于叶酸抵抗性神经管缺陷尚无有效的治疗方法。最近一篇论文证实了早期的一份报告,即给作为叶酸抵抗性神经管缺陷模型的卷尾突变小鼠服用肌醇,可以治愈此类缺陷。实现这一效果的分子途径被认为是通过上调潜在后肠内胚层中的视黄酸受体β,纠正增殖缺陷。然而,其他解释也可能导致神经管缺陷。

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What are the molecular mechanisms of neural tube defects?神经管缺陷的分子机制是什么?
Bioessays. 1998 Jan;20(1):6-8. doi: 10.1002/(SICI)1521-1878(199801)20:1<6::AID-BIES3>3.0.CO;2-T.
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Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3.缺乏上皮特异性因子Grhl-3的小鼠中对肌醇和叶酸耐药的神经管缺陷
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Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol.蛋白激酶C的特定亚型对于肌醇预防叶酸抵抗性神经管缺陷至关重要。
Hum Mol Genet. 2004 Jan 1;13(1):7-14. doi: 10.1093/hmg/ddh003. Epub 2003 Nov 12.
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Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants.从对小鼠突变体的研究中获得的关于叶酸预防人类神经管缺陷的见解。
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Inositol prevents folate-resistant neural tube defects in the mouse.肌醇可预防小鼠中对叶酸耐药的神经管缺陷。
Nat Med. 1997 Jan;3(1):60-6. doi: 10.1038/nm0197-60.
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Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects.具有神经管闭合缺陷的小鼠突变体及其在理解人类神经管缺陷中的作用。
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Comments on inositol supplementation in pregnancies at risk of apparently folate-resistant NTDs.关于对有明显叶酸抵抗性神经管缺陷风险的孕妇补充肌醇的评论。
Birth Defects Res A Clin Mol Teratol. 2008 Jul;82(7):543. doi: 10.1002/bdra.20455.
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An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure.具有神经管闭合缺陷的小鼠突变体列表更新以及对神经管闭合完整遗传视角的进展。
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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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