探索先天性脊椎形和神经管缺陷之间的关联
Yongyu Ye1, Jianan Zhang2,3, Xin Feng4
1Department of Orthopedic Surgery, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
Journal of medical genetics
|September 29, 2023
概括
先天性脊椎形 (CVM) 和神经管缺陷 (NTD) 具有共同的发育联系. 本综述探讨了它们的胚胎起源,信号通路和改善诊断的临床联系.
科学领域:
- 发展生物学 发展生物学
- 胚胎学 胚胎学
- 临床遗传学 临床遗传学
背景情况:
- 先天性脊椎形 (CVM) 和神经管缺陷 (NTD) 是影响脊椎和神经系统的常见出生缺陷.
- 这些缺陷是由于胚胎过程中发生的干扰引起的,例如体生和神经发育.
- 关键的信号通路,包括Wnt,Notch和平面细胞极性,对于这些发育事件至关重要,并表现出显著的交叉通话.
研究的目的:
- 审查与CVM和NTD相关的胚胎发育,信号通路和临床表型.
- 探索将CVM和NTD联系在一起的潜在机制.
- 总结表现出CVM和NTD综合征的综合征,以帮助临床诊断和管理.
主要方法:
- 关于胚胎发育和相关信号通路的文献综述.
- 对临床表型和相关综合征的分析.
- 综合关于CVM-NTD协会的当前知识.
主要成果:
- 确定了CVM和NTD背后的体质生成和神经细胞的共同调节机制.
- 突出了信号通路交叉在两种疾病的发病过程中的作用.
- 编制了与同时出现的CVM和NTD一起出现的综合征列表.
结论:
- CVM和NTD通过共享的发展途径和信号网络联系在一起.
- 了解这些联系可以改善这些复杂的出生缺陷的诊断和管理.
- 对分子机制的进一步研究是有必要的,以阐明精确的关系.
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