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Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain. [1] It is most commonly associated with tuberous sclerosis complex (TSC).
Nearly 50% of post-puberty individuals with tuberous sclerosis have KTs. [11] (Tuberous sclerosis is also associated with a second type of angiofibroma, adenoma sebaceum, also termed facial angiofibroma, in ~75% of cases. [14]) Individuals presenting with KTs that do not have tuberous sclerosis commonly present with a single lesion in a nail ...
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex.
Pharmacological inhibition of ERK1/2 restores GSK3β activity and protein synthesis levels in a model of tuberous sclerosis. [8]The defective degradation of glycogen by the autophagy-lysosome pathway is, at least in part, independent of impaired regulation of mTORC1 and is restored by the combined use of PKB/Akt and mTORC1 pharmacological inhibitors.
Recurrence is more likely if, despite seizure freedom, an electroencephalogram shows epileptiform spikes, which indicate epileptic activity in the brain but are below the level that will cause a seizure. Recurrence is also likely if an MRI scan shows focal abnormalities (for example, as in children with tuberous sclerosis). Such children may ...
Tuberous Sclerosis Complex (TSC): TSC is a genetic condition that leads to the formation of benign tumors in multiple organs. Dermatological signs such as hypomelanotic macules and facial angiofibromas are common, and poliosis can occasionally be an early indicator of TSC.
Tuberous sclerosis complex (TSC) tumor suppressors form the TSC1-TSC2 molecular complex. Under poor growth conditions the TSC1-TSC2 complex limits cell growth. [1] A key promoter of cell growth, mTORC1, is inhibited by the tuberous sclerosis complex. [1] Insulin activates mTORC1 and causes dissociation of TSC from the surface of lysosomes. [2]