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. Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms.
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Tuberoussclerosisproteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2...
Tuberoussclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on...
Tuberoussclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene. TSC1 functions as a co-chaperone which inhibits...
Tuberoussclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene. Mutations in this gene lead to tuberous...
tumor cell growth in several diseases, especially in tuberoussclerosis. Rheb is a 21 kDa protein monomer composed of 184 amino acids. The first 169 amino...
The history of tuberoussclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to...
PMID 15878852. Smith EM, Finn SG, Tee AR, et al. (May 2005). "The tuberoussclerosisprotein TSC2 is not required for the regulation of the mammalian target...
Resistance to ischemia-reperfusion injury by protein restriction is mediated by activation of the tuberoussclerosis complex. Dibble CC, Elis W, Menon S, Qin...
carrier protein inhibited by so-called thiazides Tuberoussclerosis complex, a rare genetic disorder Tuberoussclerosisprotein, the associated protein Trans...
Scleroderma is characterised by increased synthesis of collagen (leading to the sclerosis), damage to small blood vessels, activation of T lymphocytes, and production...
indicated for the treatment of facial angiofibroma associated with tuberoussclerosis complex. The chief advantage sirolimus has over calcineurin inhibitors...
disrupted in sufferers of Tuberoussclerosis. It was subsequently suggested that Dock7 may function as a GEF for Rheb, a small G protein that functions downstream...
spot" or birthmark, a physical characteristic common to patients with tuberoussclerosis and neurofibromatosis that he examined. The term phakomatoses was...
Tuberoussclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in the genes TSC1 and TSC2. TSC1 produces the protein hamartin...
term sporadic LAM is used for patients with LAM not associated with tuberoussclerosis complex (TSC), while TSC-LAM refers to LAM that is associated with...
as Afinitor (general tumours) and Votubia (tumours as a result of TuberousSclerosis Complex (TSC)) in oncology.[citation needed] It is on the World Health...
inhibition of ERK1/2 restores GSK3β activity and protein synthesis levels in a model of tuberoussclerosis. MAPK3 has been shown to interact with: DUSP3...
in children with tuberoussclerosis). Such children may remain on the diet longer than average, and children with tuberoussclerosis who achieve seizure...
sclerosing panencephalitis (SSPE) As well as lead encephalopathy, tuberoussclerosis, pantothenate kinase-associated neurodegeneration, and lipofuscinosis...
and Pan, D.J. (2003). Rheb is a direct target of the tuberoussclerosis tumour suppressor proteins. Nature cell biology 5, 578-581. Gao, X., Zhang, Y....
Robb V, Morrison T, Watnick T, Henske EP (January 2009). "The tuberoussclerosisproteins regulate formation of the primary cilium via a rapamycin-insensitive...
is thought to be due to abnormalities in the process of depositing the protein keratin in hair follicles, abnormalities in the hair shaft, or both. KP...
TMEM215: encoding protein Transmembrane protein 215 TMEM268: Transmembrane protein 268 TOR2A encoding protein Torsin-2A TSC1: tuberoussclerosis complex 1 TTC39B:...
"Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberoussclerosis and cancer pathogenesis". Cell. 121 (2): 179–93. doi:10.1016/j.cell...
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