Department of Neurosurgery and Neurobiology, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States.
Semin Cell Dev Biol. 2012 Jun;23(4):473-80. doi: 10.1016/j.semcdb.2012.02.005. Epub 2012 Feb 20.
Signals through the Notch receptors are used throughout development to control cellular fate choices. Our intention here is to provide an overview of the involvement of Notch signaling in human disease, which, keeping pace with the known biology of the pathway, manifests itself in a pleiotropic fashion. A pathway with such broad action in normal development, a profound involvement in the biology of adult stem cells and intricate and complex controls governing its activity, poses numerous challenges. We provide an overview of Notch related pathologies identified thus far and emphasize aspects that have been modeled in experimental systems in order to understand the underlying pathobiology and, hopefully, help the definition of rational therapeutic avenues.
Notch 受体信号在整个发育过程中被用于控制细胞命运选择。我们在这里的目的是提供 Notch 信号在人类疾病中的作用的概述,与该途径的已知生物学保持一致,它以多种方式表现出来。在正常发育中具有如此广泛作用的途径,在成人干细胞生物学中有着深刻的参与,以及控制其活性的复杂和精细的控制,带来了许多挑战。我们提供了迄今为止已确定的与 Notch 相关的病理学概述,并强调了在实验系统中建模的方面,以便了解潜在的病理生物学,并希望有助于确定合理的治疗途径。