(内蒙古大学生命科学学院,呼和浩特 010021) 摘要 : Tsc1 和 Tsc2 是常染色体基因,在体内作为抑癌基因广泛表达,表达产物 Hamartin/TSC1 和 Tuberin/TSC2 直接相互 作用形成异二聚体(TSC1/TSC2)而起作用.Tsc1 和 Tsc2 突变可导致一种显性遗传性多系统并发症,即复合型结节性硬化症(tuberous sclerosis complex,...
结节性硬化症致病基因TSCl和TSC2突变位点检测 Mutation analysis of the TSC 1and TSC2 genes in Chinese patients with Tuberous Sclerosis Complex ABSTRACT Baekground:Tuberous Sclerosis Complex(TSC,OMIM 191 100)is arare autosomal dominant neurocutaneous disorder characterized by widespread hamartomas in several...
关键词,结节性硬化症, TSC1基因, TSC2基因,基因突变, 临床表现 6 Genetype and clinical phenotype analysis in a cohort of 43 Chinese patients with tuberous sclerosis complex 【Abstract】 Objective To detect the pathogenic mutations of both TSC1 and TSC2 genes in 43 Chinese probands with tuberou...
Sato, T, Seyama, K, Fujii, H, Maruyama, H, Setoguchi, Y, Hino, O (2002) Mutatin analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. Am J Hum Genet 47: pp. 20-8Sato T, Seyama K, Fujii H, et al. Mutation analysis of the TSC1 and...
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations[J]. BMC Med Genet. 2015,16:10. 返回引文位置Google Scholar 百度学术 万方数据 [3] Avgeris S , Fostira F , Vagena A ,et al. Mutational analysis of TSC1 and TSC2 genes in tuberous sclerosis ...
Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by mutations in the TSC1 or TSC2 genes, which negatively regulate mTORC1 signalling. Here the authors selectively delete Tsc1 from dopamine neurons in mice and find impairments in striatal dopamine release that are sufficient ...
Tuberous sclerosis complex (TSC), a heritable neurodevelopmental disorder, is caused by mutations in the TSC1 or TSC2 genes. To date, there has been little work to elucidate regional TSC1 and TSC2 gene expression within the human brain, how it changes wi
结论 在中国汉族人群中,TSC1和TSC2基因可能与孤独症存在一定相关性.%Objective To explore the association between the polymorphisms of TSC1,TSC2,PTEN genes and autism in Chinese Han population.Methods 274 autism patients and 386 heahh controls were recruited,and SnaPshot technique was use...
Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism. While mTOR inhibitors have
Overall, we did not find an over-representation of ASD causal variants in the genes studied to support them as contributors to autism susceptibility. Conclusions We did not observe an enrichment of rare functional variants in TSC1 and TSC2 genes in our sample set of 300 trios....