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We report the first case of a collision tumor composed of adenocarcinoma and melanoma with a TSC1 mutation that objectively and durably responded to mTOR (show FRAP1 Proteins) inhibition.
Mutations in MTOR, TSC1, or TSC2 were more common in patients who experienced clinical benefit from rapalogs than in those who progressed.
The findings establish an active role for Tsc1 as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients-including Tsc2-thereby preventing their ubiquitination and proteasomal degradation.
we found TSC1 gene to be involved in bilateral KC and TSC (show SLC12A3 Proteins) as well as with nonsyndromic KC, supporting the hypothesis that diverse germline mutations of the same gene can cause genetic disorders with overlapping clinical features.
In our series, consistent with other studies, TSC2 mutations were associated with a more severe phenotypic spectrum than TSC1 mutations. This is the first study that sought to characterize the molecular spectrum of Brazilian individuals with tuberous sclerosis
We report the case of a boy diagnosed with TSC (show SLC12A3 Proteins) at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon
our findings suggest the significance of previously undocumented mutation-dependent mTOR (show FRAP1 Proteins) hyperactivation and frequent TSC1/2 mutations in HBV-associated HCCs (show HCCS Proteins). They define a molecular subset of HCC (show FAM126A Proteins) having genetic aberrations in mTOR (show FRAP1 Proteins) signalling, with potential significance of effective specific drug therapy.
The mTOR (show FRAP1 Proteins)-dependent, epithelial phenotype of TSC (show SLC12A3 Proteins) astrocytes suggests TSC1/2 and mTOR (show FRAP1 Proteins) tune the phosphorylation level of catenin delta-1 (show CTNND1 Proteins) by controlling PKCe (show PRKCE Proteins) activity, thereby regulating the mesenchymal-epithelial-transition (MET)
We conditionally ablated the tuberous sclerosis complex 1 (Tsc1) gene, an mTOR (show FRAP1 Proteins) inhibitor, in the rods of the Pde6b (show PDE6B Proteins)(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.
the developmental timing of TSC1 loss dictates the severity of neuronal and glial abnormalities and resulting epilepsy
This study therefore identifies Tsc1 as a novel candidate Anterior segment dysgenesis gene.
Loss of the tuberous sclerosis complex (TSC (show SLC12A3 Proteins)) tumor suppressors results in activation of mTORC1 and development of the tumor syndrome tuberous sclerosis complex (TSC (show SLC12A3 Proteins)).
Our study identifies Tsc1 as a crucial signaling checkpoint in Dendritic cells (DCs) essential for preserving T-cell homeostasis and response.
loss of Pten, which in cones results in less robust mTORC1 activation when compared with loss of Tsc1, still affords long-term cone survival.
This study suggests that mTOR (show FRAP1 Proteins) activity in hepatocytes decreases hepatic vulnerability to injury through a mechanism dependent on NF-kappaB (show NFKB1 Proteins) proinflammatory cytokine signaling pathway in both normal and steatotic liver.
TSC1/TSC2 complex upregulation of OPN (show SPP1 Proteins) expression is mediated by transcription factor SOX9 (show SOX9 Proteins) in an mTOR (show FRAP1 Proteins)-independent manner. Moreover, ablation of OPN (show SPP1 Proteins) by deficient TSC1/TSC2 complex contributed to inactivation of AKT (show AKT1 Proteins) in TSC (show SLC12A3 Proteins) cells
Here, we provide evidence that deletion of Tsc1 from OPCs, but not differentiating oligodendrocytes, is beneficial to remyelination. This finding contrasts with the loss of oligodendroglia and hypomyelination seen with Tsc1 or Tsc2 deletion in the oligodendrocyte lineage during CNS development and points to important differences in the regulation of developmental myelination and remyelination.
these findings highlight a critical role of TSC1 in regulating innate immunity by control of the mTOR1-C/EBPbeta (show CEBPB Proteins) pathway.
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 is involved in regulation of interactive network between the cilium and the TOR pathway.
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
, tumor suppressor
, tuberous sclerosis 1 protein homolog
, chromosome 9 TSC1
, tuberous sclerosis 1