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本文引用的文献

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MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acid-induced spina bifida aperta.在全反式维甲酸诱导的开放性脊柱裂大鼠中,MGMT的下调与启动子DNA甲基化无关。
Neural Regen Res. 2019 Feb;14(2):361-368. doi: 10.4103/1673-5374.244799.
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Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. Grainyhead-like 3 的过表达导致小鼠脊柱裂,并与 Grhl2 和 Vangl2 的突变等位基因在遗传上相互作用。
Hum Mol Genet. 2018 Dec 15;27(24):4218-4230. doi: 10.1093/hmg/ddy313.
3
Mitochondrial dysfunction is implicated in retinoic acid-induced spina bifida aperta in rat fetuses.线粒体功能障碍与维甲酸诱导的大鼠胎儿开放性脊柱裂有关。
Int J Dev Neurosci. 2018 Aug;68:39-44. doi: 10.1016/j.ijdevneu.2018.04.003. Epub 2018 Apr 22.
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Maternal Use of Antiepileptic Agents During Pregnancy and Major Congenital Malformations in Children.母亲在怀孕期间使用抗癫痫药物与儿童主要先天畸形。
JAMA. 2017 Nov 7;318(17):1700-1701. doi: 10.1001/jama.2017.14485.
5
An Inframe Trinucleotide Deletion in MTRR Exon 1 is Associated with the Risk of Spina Bifida.MTRR 外显子 1 中的框内三核苷酸缺失与脊柱裂的风险相关。
Neuromolecular Med. 2017 Sep;19(2-3):387-394. doi: 10.1007/s12017-017-8452-z. Epub 2017 Jul 15.
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Genetic Risk Factors for Folate-Responsive Neural Tube Defects.叶酸反应性神经管缺陷的遗传风险因素
Annu Rev Nutr. 2017 Aug 21;37:269-291. doi: 10.1146/annurev-nutr-071714-034235. Epub 2017 Jun 19.
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Rare deleterious variants in GRHL3 are associated with human spina bifida.GRHL3基因中的罕见有害变异与人类脊柱裂有关。
Hum Mutat. 2017 Jun;38(6):716-724. doi: 10.1002/humu.23214. Epub 2017 Mar 24.
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Anatomical variation: T1 spina bifida occulta. Radiological findings.解剖变异:T1隐性脊柱裂。影像学表现。
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9
Methylome analysis for spina bifida shows hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.脊柱裂的甲基化组分析显示,低甲基化是一个风险因素,有证据表明存在复杂的(表观)遗传相互作用以影响神经管发育。
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10
Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.由于家族性平衡重排导致的复发性胎儿综合征性脊柱裂,伴有3q26.1-qter重复和5p13.33-pter缺失。
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脊柱裂的分子基础:最新进展与未来展望

Molecular Basis of Spina Bifida: Recent Advances and Future Prospectives.

作者信息

Panda Prateek Kumar, Mallik Kanhu Charan, Patel Ranjankumar, Barik Mayadhar

机构信息

Department of Paediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Department of Radiology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

出版信息

J Pediatr Neurosci. 2019 Jan-Mar;14(1):16-19. doi: 10.4103/jpn.JPN_20_19.

DOI:10.4103/jpn.JPN_20_19
PMID:31316638
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6601120/
Abstract

BACKGROUND

Spina bifida (SB) (spinal neural tube [NT] defects) is basically caused by an abnormality at the closure of the NT.

MATERIALS AND METHODS

Molecular researchers have now got new etiopathogenesis of the defective neural tube closure. Although molecular mechanisms in the SB is really important taxation for further work. We understand through the unique novel mutant responsible genes and modifying genes and included the different molecular aspects of SB from the available tools and databases and excluded the case reports.

STATISTICAL ANALYSIS

We use here simple statistics (percentage, mean, median, and average) through the Statistical Package for the Social Sciences (SPSS), version 14, and found > 0.0001 to be significant.

RESULTS

We have reported that the majority of 90% genes are responsible in SB and their associated diseases. These innovative unique patterns of responsible genes attached with the result abnormalities at the neuronal and non neuronal tissues are equally important for the SB and NTC.

CONCLUSION

Our present ideology is aiming to understand the inductive and direct interactions of the downstream target sites among responsible regulating genes (RRGs). It is an unique pattern of genetic roadmap to control and guides the neurulation and may provide further insights into the causes of SB and may help to develop new molecular-targeted therapy (MTT).

摘要

背景

脊柱裂(SB)(脊髓神经管[NT]缺陷)基本上是由神经管闭合异常引起的。

材料与方法

分子研究人员现已获得神经管闭合缺陷的新发病机制。尽管SB中的分子机制对于进一步研究来说确实是一项重要的工作。我们通过独特的新型突变相关基因和修饰基因进行了解,纳入了现有工具和数据库中SB的不同分子层面内容,并排除了病例报告。

统计分析

我们在这里通过社会科学统计软件包(SPSS)版本14使用简单统计方法(百分比、均值、中位数和平均数),发现>0.0001具有显著性。

结果

我们报告称,90%的基因在SB及其相关疾病中起作用。这些与神经元和非神经元组织结果异常相关的独特创新型责任基因模式对SB和神经管闭合同样重要。

结论

我们目前的理念旨在了解责任调控基因(RRGs)下游靶位点之间的诱导性和直接相互作用。这是一种控制和引导神经胚形成的独特基因路线图模式,可能为SB的病因提供进一步见解,并可能有助于开发新的分子靶向治疗(MTT)。