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单缝颅缝早闭症与表观基因组学:当前证据和对表观遗传原则的综述。

Single-suture craniosynostosis and the epigenome: current evidence and a review of epigenetic principles.

机构信息

1School of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; and.

2Department of Neurosurgery, Johns Hopkins Hospital, Baltimore, Maryland.

出版信息

Neurosurg Focus. 2021 Apr;50(4):E10. doi: 10.3171/2021.1.FOCUS201008.

Abstract

Craniosynostosis (CS) is a congenital disease that arises due to premature ossification of single or multiple sutures, which results in skull deformities. The surgical management of single-suture CS continues to evolve and is driven by a robust body of clinical research; however, the molecular underpinnings of CS remain poorly understood. Despite long-standing hypotheses regarding the interaction of genetic predisposition and environmental factors, formal investigation of the epigenetic underpinnings of CS has been limited. In an effort to catalyze further investigation into the epigenetic basis of CS, the authors review the fundamentals of epigenetics, discuss recent studies that shed light on this emerging field, and offer hypotheses regarding the role of epigenetic mechanisms in the development of single-suture CS.

摘要

颅缝早闭(CS)是一种先天性疾病,由于单个或多个骨缝过早骨化导致颅骨畸形。单骨缝 CS 的手术治疗仍在不断发展,这得益于大量的临床研究;然而,CS 的分子基础仍知之甚少。尽管关于遗传易感性和环境因素相互作用的假设由来已久,但对 CS 的表观遗传学基础的正式研究仍很有限。为了进一步推动 CS 的表观遗传学基础的研究,作者回顾了表观遗传学的基本原理,讨论了最近阐明这一新兴领域的研究,并提出了关于表观遗传机制在单骨缝 CS 发育中的作用的假说。

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