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Tuberous sclerosis complex (TSC) is a genetic disease caused by a mutation in either the tsc1 or tsc2 tumor suppressor gene.
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However, TSC1 also activates Rho and regulates cell adhesion.
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In such families the linkage can be used and there is more TSC1 cases which are easily identifiable.
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The disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 and TSC2.
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The Tuberous Sclerosis Complex component, TSC1, functions as a tumor suppressor via its regulation of diverse cellular processes, particularly cell growth.
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Background: Cardiac rhabdomyomas can be prenatally diagnosed in patients with tuberoussclerosiscomplex.
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Novartis said Afinitor cuts seizures in phase III study in patients with tuberoussclerosiscomplex.
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Conclusions: Patients with tuberoussclerosiscomplex with reduced residual white matter were neurologically more severely affected.
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Most patients with tuberoussclerosiscomplex (TSC) develop cortical tubers that cause severe neurological disabilities.
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Subependymal giant cell astrocytoma (SEGA) is a rare tumor occurring almost exclusively in patients with tuberoussclerosiscomplex.