神经管缺陷的发病机制:神经管闭合背后的细胞过程的调节和破坏。

IF 4.6 3区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL
David M Engelhardt, Cara A Martyr, Lee Niswander
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引用次数: 5

摘要

神经管闭合(NTC)对大脑和脊髓的正常发育至关重要,需要从细胞片到完整的三维结构的精确形态发生。NTC依赖于数百个基因的成功调控,无数的信号通路,浓度梯度,并受表观遗传和环境因素的影响。神经管缺陷(NTC)的失败被称为神经管缺陷(NTD),在美国和世界范围内是先天性缺陷的主要类别。虽然NTD都被定义为神经管不完全闭合,但NTD的发病机制决定了其类型、严重程度、位置和伴随的表型。在这篇综述中,我们调查了NTDs的发病机制,涉及基因突变引起的细胞过程破坏,表观遗传调控改变,微量营养素和母体状况的环境影响。本文分类如下:先天性疾病>遗传学/基因组学/表观遗传学神经疾病>遗传学/基因组学/表观遗传学神经疾病>干细胞与发育。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Pathogenesis of neural tube defects: The regulation and disruption of cellular processes underlying neural tube closure.

Pathogenesis of neural tube defects: The regulation and disruption of cellular processes underlying neural tube closure.

Neural tube closure (NTC) is crucial for proper development of the brain and spinal cord and requires precise morphogenesis from a sheet of cells to an intact three-dimensional structure. NTC is dependent on successful regulation of hundreds of genes, a myriad of signaling pathways, concentration gradients, and is influenced by epigenetic and environmental cues. Failure of NTC is termed a neural tube defect (NTD) and is a leading class of congenital defects in the United States and worldwide. Though NTDs are all defined as incomplete closure of the neural tube, the pathogenesis of an NTD determines the type, severity, positioning, and accompanying phenotypes. In this review, we survey pathogenesis of NTDs relating to disruption of cellular processes arising from genetic mutations, altered epigenetic regulation, and environmental influences by micronutrients and maternal condition. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics Neurological Diseases > Genetics/Genomics/Epigenetics Neurological Diseases > Stem Cells and Development.

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来源期刊
WIREs Mechanisms of Disease
WIREs Mechanisms of Disease MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
11.40
自引率
0.00%
发文量
45
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