- ￥5999
- 赛默飞（Thermo Fisher）
- MA554124
- 2025年07月16日
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文献和实验A Genetic Model to Dissect the Role of Tsc-mTORC1 in Neuronal Cultures
Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by mutations in either of two genes, TSC1 or TSC2 , whose protein products form a complex that is essential in the regulation of mammalian target of rapamycin (mTOR
) (1 ) and TSC2 on chromosome 16p13 (MIM * 191092) (2 ). TSC affects up to 1 in 6000 individuals with two-thirds representing sporadic cases, reflecting a high spontaneous mutation rate. Both TSC genes cover about 50 kb and 40 kb of genomic DNA, respectively
Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens
1 and TSC2 tumor suppressor genes. The genes follow the two-hit model for tumorigenesis, with germline mutations inactivating one allele and somatic mutations inactivating the remaining wild-type allele. Allelic loss (also called loss of heterozygosity [LOH
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