哺乳动物昼夜节律的有序与紊乱遗传学：对生理学和疾病的影响。
The genetics of mammalian circadian order and disorder: implications for physiology and disease.
作者信息
Takahashi Joseph S, Hong Hee-Kyung, Ko Caroline H, McDearmon Erin L
机构信息
Howard Hughes Medical Institute, Northwestern University, Evanston, Illinois 60208-3520, USA.
出版信息
Nat Rev Genet. 2008 Oct;9(10):764-75. doi: 10.1038/nrg2430.
Abstract
Circadian cycles affect a variety of physiological processes, and disruptions of normal circadian biology therefore have the potential to influence a range of disease-related pathways. The genetic basis of circadian rhythms is well studied in model organisms and, more recently, studies of the genetic basis of circadian disorders has confirmed the conservation of key players in circadian biology from invertebrates to humans. In addition, important advances have been made in understanding how these molecules influence physiological functions in tissues throughout the body. Together, these studies set the scene for applying our knowledge of circadian biology to the understanding and treatment of a range of human diseases, including cancer and metabolic and behavioural disorders.
摘要
昼夜节律周期影响多种生理过程，因此正常昼夜生物学的紊乱有可能影响一系列与疾病相关的途径。在模式生物中，昼夜节律的遗传基础已得到充分研究，最近，对昼夜节律紊乱遗传基础的研究证实了从无脊椎动物到人类，昼夜生物学中关键参与者的保守性。此外，在理解这些分子如何影响全身组织的生理功能方面也取得了重要进展。总之，这些研究为将我们对昼夜生物学的认识应用于理解和治疗一系列人类疾病，包括癌症、代谢和行为障碍，奠定了基础。
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Cell. 2008 Jul 25;134(2):329-40. doi: 10.1016/j.cell.2008.07.002.
2
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3
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