【摘要】 生长激素(GH)在促进动物生长、发育等代谢过程中起着重要作用。GH发挥生理作用的第一步是与靶细胞膜表面的GH受体(GHR)结合,由GHR介导将信号传入细胞内从而产生一系列生理效应。GHR基因突变可导致空间构象改变,从而影响其功能,使信号不能正常转导,进而影响 GH生理效应的发挥。本文就GHR基因异常与人体生长障碍以及颅面发育的关系作一分析,同时阐述GHR基因研究对人体生长以及颅面发育的生理病理过程的重要意义。更多还原

【Abstract】 Growth hormone(GH) plays an important role in promoting animal growth. Binding to its receptor (GHR) can initiate GH-dependent signal transduction pathways which will generate many biological effects. The mutation of GHR gene can change its conformation and function, so that the signal transduction will be interfered, and the biological effects of GH will be influenced. This review is about the relationship between human growth retardation , craniofacial growth and GHR gene mutation. It also illuminates the significant role of the GHR gene in physiology and pathology of human growth and craniofacial growth.更多还原