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In our series, consistent with other studies, TSC2 (show TSC2 ELISA Kits) 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 ELISA Kits) 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 ELISA Kits) hyperactivation and frequent TSC1/2 mutations in HBV-associated HCCs (show HCCS ELISA Kits). They define a molecular subset of HCC (show FAM126A ELISA Kits) having genetic aberrations in mTOR (show FRAP1 ELISA Kits) signalling, with potential significance of effective specific drug therapy.
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 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation.
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 ELISA Kits)) tumor suppressors results in activation of mTORC1 and development of the tumor syndrome tuberous sclerosis complex (TSC (show SLC12A3 ELISA Kits)).
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 ELISA Kits) activity in hepatocytes decreases hepatic vulnerability to injury through a mechanism dependent on NF-kappaB (show NFKB1 ELISA Kits) proinflammatory cytokine signaling pathway in both normal and steatotic liver.
TSC1/TSC2 (show TSC2 ELISA Kits) complex upregulation of OPN (show SPP1 ELISA Kits) expression is mediated by transcription factor SOX9 (show SOX9 ELISA Kits) in an mTOR (show FRAP1 ELISA Kits)-independent manner. Moreover, ablation of OPN (show SPP1 ELISA Kits) by deficient TSC1/TSC2 (show TSC2 ELISA Kits) complex contributed to inactivation of AKT (show AKT1 ELISA Kits) in TSC (show SLC12A3 ELISA Kits) 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 (show TSC2 ELISA Kits) 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 ELISA Kits) 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