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骨形态发生蛋白(BMP)信号在发育及人类疾病中的作用

Bone Morphogenetic Protein (BMP) signaling in development and human diseases.

作者信息

Wang Richard N, Green Jordan, Wang Zhongliang, Deng Youlin, Qiao Min, Peabody Michael, Zhang Qian, Ye Jixing, Yan Zhengjian, Denduluri Sahitya, Idowu Olumuyiwa, Li Melissa, Shen Christine, Hu Alan, Haydon Rex C, Kang Richard, Mok James, Lee Michael J, Luu Hue L, Shi Lewis L

机构信息

The University of Chicago Pritzker School of Medicine, Chicago, IL 60637, USA ; Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60637, USA.

Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL 60637, USA ; Departments of Orthopaedic Surgery, Medicine, and Gynecology, the Affiliated Hospitals of Chongqing Medical University, Chongqing 400016, China.

出版信息

Genes Dis. 2014 Sep;1(1):87-105. doi: 10.1016/j.gendis.2014.07.005.

Abstract

Bone Morphogenetic Proteins (BMPs) are a group of signaling molecules that belongs to the Transforming Growth Factor-β (TGF-β) superfamily of proteins. Initially discovered for their ability to induce bone formation, BMPs are now known to play crucial roles in all organ systems. BMPs are important in embryogenesis and development, and also in maintenance of adult tissue homeostasis. Mouse knockout models of various components of the BMP signaling pathway result in embryonic lethality or marked defects, highlighting the essential functions of BMPs. In this review, we first outline the basic aspects of BMP signaling and then focus on genetically manipulated mouse knockout models that have helped elucidate the role of BMPs in development. A significant portion of this review is devoted to the prominent human pathologies associated with dysregulated BMP signaling.

摘要

骨形态发生蛋白(BMPs)是一类信号分子,属于转化生长因子-β(TGF-β)超家族蛋白。最初因其诱导骨形成的能力而被发现,现在已知BMPs在所有器官系统中都发挥着关键作用。BMPs在胚胎发生和发育以及成体组织稳态的维持中都很重要。BMP信号通路各种组分的小鼠基因敲除模型会导致胚胎致死或明显缺陷,这突出了BMPs的重要功能。在本综述中,我们首先概述BMP信号传导的基本方面,然后重点关注有助于阐明BMPs在发育中作用的基因操作小鼠基因敲除模型。本综述的很大一部分致力于与BMP信号失调相关的突出人类病理学。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1603/6150094/4008abe8ae63/gr1.jpg

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