...TSC1 and TSC2. EEG abnormalities appeared at a mean age of 4 months. Four of the six patients developed seizures. EEG ab...
...TSC1/2, and an ALK translocation. Of 45 patients who had germline testing, 11 (24%) harbored mutations, seven of which c...
...TSC1, TSC2) were present in 17% of primary tumors, most of them being classified as pathogenic. Mutations were associate...
TSC1 or TSC2 mutations cause Tuberous Sclerosis Complex (TSC), and lead to mechanistic target of rapamycin (mTOR) hypera...
...TSC1, TSC2, SCL35A2, and BRAF. Somatic mutations, two-hit mutations, and germline mutations accounted for 22.0% (51), 0....
...TSC1/2, the GTPase-activator complex for Rheb, and Rheb.GTP activates mTORC1. It is not clear how amino acids regulate m...
...TSC1-TSC2-TBC1D7) inhibits Rheb. Despite the prevailing view that these pathways converge only at mTORC1 itself, several...
...TSC1, TSC2 and eEF2 relative to the control group. Compared with the control group, HS also led to greater mRNA expressi...
...TSC1, and USP54 were exclusively identified in NAC nonresponders, suggesting that these mutations may participate in the...
...TSC1 (2 cases, 6%). Notable additional alterations included TP53 (19 cases, 54%) and RB1 (6 cases; 17%). Genes involved ...
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