...Tsc1 knockout (L-Tsc1 KO) and L-Tsc1,Tfeb double KO (DKO) mice. Loss of hepatic Tsc1 led to increased phosphorylation of...
...TSC1, TSC2, or FLCN alteration was identified. These findings expand the molecular spectrum of PEComa and support the em...
...TSC1 and TSC2 mutations, consistent with a sporadic angiomyolipoma. The patient underwent successful en bloc left radica...
...TSC1) promoter, enhancing TSC1 transcription. Intriguingly, knockdown of FOXO1 counteracted the inhibitory effects of UC...
...TSC1 c.1041G>A variant. Presymptomatic risdiplam was initiated at a corrected gestational age of 38+5 weeks. Both twins ...
...TSC1 or TSC2 genes, leading to overactivation of mTOR signaling and dysregulation of downstream pathways. The majority o...
...TSC1: 11.4%, p < 0.001) and renal cysts (TSC2: 33.8% vs. TSC1: 9.1%, p = 0.003). The most frequent combined involvement ...
...TSC1 and TSC2 genotypes. Cross-sectional study of 311 consecutive patients meeting 2012 International TSC Consensus crit...
...TSC1 and TSC2 sensitized SCLC cell lines to olaparib. Therapeutic strategies combining PARPi and autophagy inhibition de...
...TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestation...
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