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人类牙齿数量非综合征性异常的遗传基础。

Genetic basis of non-syndromic anomalies of human tooth number.

机构信息

Sapienza University of Rome, Department of Oral Medicine, Course of Dentistry Degree, Courses of Orthognatodontics 2 and Clinical Gnatology 2, Italy.

出版信息

Arch Oral Biol. 2012 Jul;57(7):918-30. doi: 10.1016/j.archoralbio.2012.01.005. Epub 2012 Feb 9.

Abstract

Teeth organogenesis develops through a well-ordered series of inductive events involving genes and BMP, FGF, SHH and WNT represent the main signalling pathways that regulate epithelial-mesenchymal interactions. Moreover, progress in genetics and molecular biology indicates that more than 300 genes are involved in different phases of teeth development. Mutations in genes involved in odontogenesis are responsible for many dental anomalies, including a number of dental anomalies that can be associated with other systemic skeletal or organic manifestations (syndromic dental anomalies) or not (non-syndromic dental anomalies). The knowledge of the genetic development mechanisms of the latter is of major interest. Understanding the mechanisms of pathogenesis of non-syndromic teeth anomalies would also clarify the role of teeth in craniofacial development, and this would represent an important contribution to the diagnosis, treatment and prognosis of congenital malformations, and the eventual association to other severe diseases. Future research in this area is likely to lead to the development of tests for doctors to formulate an early diagnosis of these anomalies.

摘要

牙齿器官发生是通过一系列涉及基因的有序诱导事件发展而来的,BMP、FGF、SHH 和 WNT 代表调节上皮-间充质相互作用的主要信号通路。此外,遗传学和分子生物学的进展表明,超过 300 个基因参与了牙齿发育的不同阶段。牙发生相关基因的突变导致许多牙齿异常,包括许多与其他系统性骨骼或器官表现(综合征性牙齿异常)相关或不相关(非综合征性牙齿异常)的牙齿异常。了解后者的遗传发育机制是非常重要的。了解非综合征性牙齿异常的发病机制也将阐明牙齿在颅面发育中的作用,这将对先天性畸形的诊断、治疗和预后做出重要贡献,并最终与其他严重疾病相关。该领域的未来研究可能会促使医生开发出测试方法,以便对这些异常进行早期诊断。

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