Article
Modeling of a human circadian mutation yields insights into clock regulation by PER2.
Cell - 12 Jan 2007
Xu Y, Toh K L, Jones C R, Shin J-Y, Fu Y-H, Ptácek L J
Abstract excerpt
Circadian rhythms are endogenous oscillations of physiological and behavioral phenomena with period length of approximately 24 hr. A mutation in human Period 2 (hPER2), a gene crucial for resetting the central clock in response to light, is associated with familial advanced sleep phase syndrome (FASPS), an autosomal dominant condition with early morning awakening and early sleep times. The FASPS hPER2 S662G...
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