Exploring the association between congenital vertebral malformations and neural tube defects
Publication in refereed journal
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摘要Congenital vertebral malformations (CVMs) and neural tube defects (NTDs) are common birth defects affecting the spine and nervous system, respectively, due to defects in somitogenesis and neurulation. Somitogenesis and neurulation rely on factors secreted from neighbouring tissues and the integrity of the axial structure. Crucial signalling pathways like Wnt, Notch and planar cell polarity regulate somitogenesis and neurulation with significant crosstalk. While previous studies suggest an association between CVMs and NTDs, the exact mechanism underlying this relationship remains unclear. In this review, we explore embryonic development, signalling pathways and clinical phenotypes involved in the association between CVMs and NTDs. Moreover, we provide a summary of syndromes that exhibit occurrences of both CVMs and NTDs. We aim to provide insights into the potential mechanisms underlying the association between CVMs and NTDs, thereby facilitating clinical diagnosis and management of these anomalies.
著者Yongyu Ye, Jianan Zhang, Xin Feng, Chong Chen, Yunbing Chang, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Bo Gao, Nan Wu
期刊名稱Journal of Medical Genetics
出版年份2023
月份12
卷號60
期次12
出版社BMJ Publishing Group
頁次1146 - 1152
國際標準期刊號0022-2593
電子國際標準期刊號1468-6244
語言英式英語
關鍵詞global health, nervous system malformations, orthopedics
