...TSC1 or TSC2 gene increase the risk of RCC. Genome-wide copy number alteration analysis has suggested that loss of chrom...
...TSC1 (2 cases, 6%). Notable additional alterations included TP53 (19 cases, 54%) and RB1 (6 cases; 17%). Genes involved ...
...TSC1 or TSC2. Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic ...
...TSC1), tuberin (TSC2), and TBC1 domain family member 7 (TBC1D7) which are critical negative regulators of mTORC1. In sum...
...Tsc1 +/Flox,2 mice that exhibited restored nephron number compared with Six2TGC tg/+ mice, and mapped the precise integr...
...TSC1, and TSC2), and some other genes (ARID1A, FGFR1, KRAS, and NRAS). Furthermore, some patients harboring ARID1A or NF...
...TSC1 and TSC2 genes. TSC patients present with seizures and brain abnormalities such as tubers and subependymal giant ce...
...TSC1/TSC2-mutated renal cell carcinoma (RCC) with fibromyomatous stroma (ELOC-RCCfms and M/TSC-RCCfms, respectively), as...
...TSC1 mutations (p < 0.001). Total parental stress (PSI) was significantly related to the total score of VABS-II at both ...
...TSC1 genetic knockout mice, and bafilomycin A1(Baf-A1), a selective inhibitor of autophagy to explore the regulatory rol...
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