Serra Rosa, Chang Chenbei
Department of Cell Biology, University of Alabama, Birmingham 35294-0005, USA.
Birth Defects Res C Embryo Today. 2003 Nov;69(4):333-51. doi: 10.1002/bdrc.10023.
Members of the transforming growth factor beta (TGF-beta) family of multifunctional peptides are involved in almost every aspect of development. Model systems, ranging from genetically tractable invertebrates to genetically engineered mice, have been used to determine the mechanisms of TGF-beta signaling in normal development and in pathological situations. Furthermore, mutations in genes for the ligands, receptors, extracellular modulators, and intracellular signaling molecules have been associated with several human disorders. The most common are those associated with the development and maintenance of the skeletal system and axial patterning. This review focuses on the mechanisms of TGF-beta signaling with special emphasis on the molecules involved in human disorders of patterning and skeletal development.
多功能肽转化生长因子β（TGF-β）家族的成员几乎参与了发育的各个方面。从遗传易处理的无脊椎动物到基因工程小鼠等模型系统，已被用于确定TGF-β信号在正常发育和病理情况下的机制。此外，配体、受体、细胞外调节剂和细胞内信号分子的基因突变与几种人类疾病有关。最常见的是与骨骼系统发育和维持以及轴向模式形成相关的疾病。本综述重点关注TGF-β信号传导的机制，特别强调参与人类模式形成和骨骼发育疾病的分子。
