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Tsc1 is involved in regulation of interactive network between the cilium and the TOR pathway.
The mTOR (show FRAP1 ELISA Kits)-dependent, epithelial phenotype of TSC (show SLC12A3 ELISA Kits) astrocytes suggests TSC1/2 and mTOR (show FRAP1 ELISA Kits) tune the phosphorylation level of catenin delta-1 (show CTNND1 ELISA Kits) by controlling PKCe (show PRKCE ELISA Kits) activity, thereby regulating the mesenchymal-epithelial-transition (MET)
We conditionally ablated the tuberous sclerosis complex 1 (Tsc1) gene, an mTOR (show FRAP1 ELISA Kits) inhibitor, in the rods of the Pde6b (show PDE6B ELISA Kits)(H620Q/H620Q) preclinical RP mouse model and observed, functionally and morphologically, an improvement in the survival of rods and cones at early and late disease stages.
TSC1 mutations leading to tuberous sclerosis in Chinese children.
Our results indicate that TSC2 (show TSC2 ELISA Kits) and less commonly TSC1 alterations are the primary essential driver event in angiomyolipoma/Lymphangioleiomyomatosis, whereas other somatic mutations are rare and likely do not contribute to tumor development.
brain somatic mutations in TSC1 and TSC2 (show TSC2 ELISA Kits) cause focal cortical dysplasia
TSC1 expression is reduced in two subsets of clear-cell renal cell carcinomas, those with monoallelic VHL (show VHL ELISA Kits) gene inactivation and those with concurrent low HIF-1alpha (show HIF1A ELISA Kits) and high HIF-2alpha (show EPAS1 ELISA Kits) expression.
Repression of TSC1/TSC2 (show TSC2 ELISA Kits) mediated by MeCP2 (show MECP2 ELISA Kits) regulates human embryo lung fibroblast cell differentiation and proliferation.
TSC1 mutation is associated in patients, diagnosed with tuberous sclerosis associated vascular malformation.
Novel TSC1 mutations in Chinese patients with tuberous sclerosis.
Gene expression level of TSC1 is significantly higher in AD patients when compared to normal controls.
Recombination and loss of Tsc1 was demonstrated in skin fibroblasts in vivo and in cultured skin fibroblasts. Loss of Tsc1 in fibroblasts in mice does not lead to a model of angiomyolipoma or lymphangioleiomyomatosis.
Tsc1 haploinsufficiency is sufficient to increase dendritic patterning and Filamin A (show FLNA ELISA Kits) levels. Reducing filamin A (FLNA (show FLNA ELISA Kits)) levels has been shown to decrease Tsc1(+/-) dendritic complexity, these data suggest that increased FLNA (show FLNA ELISA Kits) levels in Tsc1(+/-) mice contribute to abnormal dendritic patterning in the Tsc1 heterozygote condition of individuals with tuberous sclerosis complex.
selective mTORC1 activation in smooth muscle cells induced by deleting the negative mTORC1 regulator tuberous sclerosis complex 1 gene (TSC1) was sufficient to produce pulmonary hypertension.
The present study demonstrates for the first time evidence of microglial activation in a mouse model of TSC (show SLC12A3 ELISA Kits) with mutation tsc1.
suppression of AKT (show AKT1 ELISA Kits) by hyperactivation of mTORC1, inhibition on nuclear ERalpha (show ESR1 ELISA Kits) signaling, and down-regulation of cell-cycle-driving proteins play important roles in the retarded mammary development induced by Tsc1 deletion.
TSC1 knockout mice are lean, glucose intolerant with a decreased activation of protein kinase B (Akt/PKB (show AKT1 ELISA Kits)) targets that regulate glucose transporters in skeletal muscle.
a pivotal role for Tsc1 in regulating various aspects of visual-pathway development, is reported.
PAK2 (show PAK2 ELISA Kits) is a direct effector of TSC1-TSC2 (show TSC2 ELISA Kits)-RHEB (show RHEB ELISA Kits) signaling and a new target for rational drug therapy in TSC (show SLC12A3 ELISA Kits).
Tsc1 plays a critical role in regulating macrophage survival, function and polarization via inhibition of mTORC1 activity.
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants.
tuberous sclerosis 1 protein
, tuberous sclerosis 1
, tumor suppressor
, tuberous sclerosis 1 protein homolog
, chromosome 9 TSC1