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More than the sum of its parts: new mouse models for dissecting the genetic complexities of Williams–Beuren syndrome

机译:不仅仅是其部分的总和:用来剖析Williams–Beuren综合征的遗传复杂性的新型小鼠模型

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摘要

Psychiatric disorders are a common, severe and disabling group of diseases where progress in finding novel molecular targets has been slow. This is partly due to our lack of understanding of the molecular pathophysiology of these conditions as they play out in the brain (Insel & Scolnick, ). Since many of these diseases (such as schizophrenia, bipolar disorder or autism) are highly heritable, a genetic approach to dissecting the risk architecture is a promising avenue for molecular medicine; however, variants in single genes frequently present in the population have only small to moderate effects on complex behavioural phenotypes (O'Donovan et al, ).
机译:精神疾病是常见,严重和致残的疾病,在寻找新的分子靶标方面进展缓慢。部分原因是由于我们缺乏对这些疾病在大脑中发挥作用的分子病理生理学的了解(Insel&Scolnick,)。由于这些疾病中的许多疾病(例如精神分裂症,躁郁症或自闭症)都是高度遗传的,因此采用遗传学方法剖析风险结构是分子医学的有前途的途径。然而,人口中经常出现的单个基因变异对复杂的行为表型只有很小到中等的影响(O'Donovan等人)。

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