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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Embryonic neuronal markers in tuberous sclerosis: Single-cell molecular pathology
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Embryonic neuronal markers in tuberous sclerosis: Single-cell molecular pathology

机译:结节性硬化中的胚胎神经元标志物:单细胞分子病理学

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摘要

One hallmark of tuberous sclerosis (TSC) is the presence of highly epileptogenic dysplastic cerebral cortex (tubers) composed of abnormally shaped neurons and giant cells. Mutation of the TSC gene (TSC2) may disrupt differ- entiation and maturation of neuronal precursors, since the TSC2 gene product tuberin is believed to regulate cellular proliferation. To test the hypothesis that cells in tubers may retain the molecular phenotype of embryonic or immature neurons, tubers from five TSC patients were probed with antibodies to proteins expressed in neuronal precursors (nes- tin, Ki-67, and proliferating cell nuclear antigen).
机译:结节性硬化症(TSC)的一个标志是存在高度致癫痫的发育异常的大脑皮层(块茎),由异常形状的神经元和巨细胞组成。 TSC基因(TSC2)的突变可能会破坏神经元前体的分化和成熟,因为TSC2基因产物tuberin被认为可以调节细胞增殖。为了检验以下假设,即块茎中的细胞可以保留胚胎或未成熟神经元的分子表型,对五名TSC患者的块茎进行了神经元前体(nestin,Ki-67和增殖性细胞核抗原)表达蛋白抗体的探测。

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