PURPOSE OF REVIEW:An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide. Decades of research suggest that no single factor is responsible for neurulation failure, but rather NTDs arise from a complex interplay of disrupted gene regulatory networks, environmental influences and epigenetic regulation. A comprehensive understanding of these dynamics is critical to advance NTD research and prevention. RECENT FINDINGS:Next-generation sequencing has ushered in a new era of genomic insight toward NTD pathophysiology, implicating novel gene associations with human NTD risk. Ongoing research is moving from a candidate gene approach toward genome-wide, systems-based investigations that are starting to uncover genetic and epigenetic complexities that underlie NTD manifestation. SUMMARY:Neural tube closure is critical for the formation of the human brain and spinal cord. Broader, more all-inclusive perspectives are emerging to identify the genetic determinants of human NTDs.

译文

审查目的:提供有关神经管畸形(NTD)的更新,包括脊柱裂和无脑畸形,它们是全世界最常见的严重先天性畸形之一。数十年的研究表明,没有单个因素可导致神经功能衰竭,而NTD则是由基因调控网络破坏,环境影响和表观遗传调控的复杂相互作用所引起的。全面了解这些动态因素对于推进NTD研究和预防至关重要。
最近的发现:下一代测序技术已经进入了对NTD病理生理学的基因组学研究的新时代,这暗示了与人类NTD风险相关的新型基因。正在进行的研究正从候选基因方法转向全基因组,基于系统的研究,这些研究开始发现构成NTD表现基础的遗传和表观遗传学复杂性。
摘要:神经管闭合对于人脑和脊髓的形成至关重要。正在出现更广泛,更包容各方的观点,以鉴定人类NTD的遗传决定因素。

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