TGF-β Family Signaling in Connective Tissue and Skeletal Diseases
TGF-β Family Signaling in Connective Tissue and Skeletal Diseases
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DOI：
10.1101/cshperspect.a022269
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发表时间：
2017-11-01
影响因子：
7.2
通讯作者：
Shore, Eileen M.
中科院分区：
文献类型：
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作者：
MacFarlane, Elena Gallo;Haupt, Julia;Shore, Eileen M.
转化生长因子 β (TGF-β) 信号分子家族，包括 TGF-β、激活素、抑制素以及多种骨形态发生蛋白 (BMP) 和生长和分化因子 (GDF)，在所有细胞和组织（包括软结缔组织和骨骼）中具有重要功能。特定的 TGF-β 家族成员在这些组织中发挥不同的作用，并且它们的活性通常与其他 TGF-β 家族成员的活性以及通过与其他信号通路的相互作用来平衡。 TGF-β家族通路的扰动与许多人类疾病相关，其中骨骼和心血管系统受到显着影响。本综述重点关注该信号分子家族在罕见遗传综合征（例如胸主动脉瘤的综合征表现）以及更常见疾病（例如骨关节炎和骨质疏松症）中表现的结缔组织病理学中的作用。许多这些疾病是由信号传导介体的TGF-β家族与结缔组织中的细胞外基质之间的复杂关系的病理改变引起或导致的。
The transforming growth factor beta (TGF-beta) family of signaling molecules, which includes TGF-beta s, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs), has important functions in all cells and tissues, including soft connective tissues and the skeleton. Specific TGF-beta family members play different roles in these tissues, and their activities are often balanced with those of other TGF-beta family members and by interactions with other signaling pathways. Perturbations in TGF-beta family pathways are associated with numerous human diseases with prominent involvement of the skeletal and cardiovascular systems. This review focuses on the role of this family of signaling molecules in the pathologies of connective tissues that manifest in rare genetic syndromes (e.g., syndromic presentations of thoracic aortic aneurysm), as well as in more common disorders (e.g., osteoarthritis and osteoporosis). Many of these diseases are caused by or result in pathological alterations of the complex relationship between the TGF-beta family of signaling mediators and the extracellular matrix in connective tissues.