Il n’y a pas de produits dans votre liste de comparaison.
Votre panier est vide.
Afficher tous les synonymes
Sélectionnez vos espèces d'intérêt
Eosinophilic solid and cystic renal cell carcinoma consistently harbors actionable TSC1 or TSC2 mutations
The Arg246Lys substitution does not affect TSC1 function, and suggest that the effect of the TSC1 p.Arg246Lys mutation is rather a result of alternative splicing.
Plk1 phosphorylation of TSC1 at S467.
To determine the developmental origin of tuber cells, we established human cellular models of Tuberous sclerosis complex by CRISPR-Cas9-mediated gene editing of TSC1 or TSC2 in human pluripotent stem cells (hPSCs)
Mutational and copy number analysis of next-generation sequencing data revealed mutually exclusively somatic bi-allelic loss of TSC1 gene - negative regulator of the mammalian target of rapamycin (mTOR) pathway in 85% of evaluated Eosinophilic Solid and Cystic Renal Cell Carcinoma cases.
Silencing lncDDIT4 in naive CD4(+) T cells enhanced Th17 differentiation through increased activation of the DDIT4/mTOR pathway.
Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation
Knockout of either TSC1 or DEPDC5 led to enhanced HIV-1 reactivation in both a T-cell and a monocyte cell lines.
Findings indicate six novel mutations: four in the tuberous sclerosis 2 protein (TSC2) gene, of which one is nonsense, two frame shift and one large deletion of 16 exons; and two in the tuberous sclerosis 1 protein (TSC1) gene, one nonsense and other frame shift.
Tuberous sclerosis complex Chinese Han patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations.
All of examined patients had TSC 1 gene exon 15 c.1846delG p.A616Pfs*13 mutation.
TSC1 and mitochondrial DNA mutations were also confirmed in her son
our study demonstrated high rate of TSC1/2 mutations among clinically diagnosed Russian TS patients. A significant share of these mutations was represented by large gene rearrangements.
a novel TSC1 frameshift mutation was associated with an isolated focal cortical dysplasia type IIb in the absence of further CNS abnormalities
Authors next identified miR-130a to be a negative regulator of TSC1 by targeting its 3'UTR. miR-130a was overexpressed in HGSOC and could drive proliferation and invasion/metastasis of ovarian cancer cells.
All tuberous sclerosis patients were found to have mutations, which included 1 case with tuberous sclerosis 1 protein (TSC1) mutation and 9 cases with tuberous sclerosis 2 protein (TSC2) mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case).
Mutations in TSC1 gene on chromosome 9q34 that encode hamartin are associated with fetal Cardiac Rhabdomyoma that can be the initial finding in patients with Tuberous Sclerosis Complex. 5 known "pathogenic" TSC1-causing gene mutations were confirmed, also detected 6 "likely pathogenic" mutations.
Patients with large deletions and frameshift mutations of the TSC1 or TSC2 gene showed larger AML diameters than patients with other kinds of mutations.
Findings suggest that TSC1 mutations are frequent in mucosal melanoma. TSC1 mutations can activate the mTOR pathway through phospho-S6RP and might be a poor prognostic predictor of mucosal melanoma.
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 inhibition.
Data show that the number of apoptotic cells was increased in tuberous sclerosis complex 1 knockout (TSC1fl/fl) mice.
Tsc1-mTORC1 pathway plays an important role in mediating the decrease in beta-cell proliferation and growth and the reduction in beta-cell mass that occurs in Pdx1-deficient diabetes.
Tsc1 ablation in Schwann cell progenitors in mice resulted in activation of mTOR signaling, and caused over-proliferation of Schwann cells and blocked their differentiation, leading to hypomyelination. Transcriptome profiling analysis revealed that mTOR activation in Tsc1 mutants resulted in upregulation of a polo-like kinase (PLK)-dependent pathway and cell cycle regulators.
Results suggest distinct functions of tuberous sclerosis complex 1 protein (Tsc1) and tuberous sclerosis complex 2 protein (Tsc2) in cellular signaling as the two genes affect ciliary length control and sonic hedgehog protein signaling via different mechanisms.
that Tsc1 specifically regulated the expression of groups of gene sets critically involved in dendritic cells survival, proliferation, metabolism and antigen presentation
Moderate increase of TSC1 expression can enhance overall health, particularly cardiovascular health, and improve survival in a gender-specific manner.
Tsc1 role in the differentiation of the neural stem cells.
TSC1 role in the survival of myelinating oligodendrocytes.
The results reveal a role for Tsc1-dependent inhibition of mTORC1 activation during immature NK cell development.
Conditional knockout of Tsc1 led to enhanced proliferation and increased reactive oxygen species production and phagocytosis in alveolar macrophages.
Co-electroporation of the different aberrant alleles and varying amounts of wildtype TSC1 surprisingly revealed already minimal amounts of functional hamartin to be sufficient for phenotype rescue
We established chondrocyte-specific TSC-1 knockout (KO) mice to overactivate the energy metabolic component.
TSC loss distorts DNA replication programme and sensitises murine embryonic fibroblasts to genotoxic stress.
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) tumor suppressors results in activation of mTORC1 and development of the tumor syndrome tuberous sclerosis complex (TSC).
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 activity in hepatocytes decreases hepatic vulnerability to injury through a mechanism dependent on NF-kappaB proinflammatory cytokine signaling pathway in both normal and steatotic liver.
TSC1/TSC2 complex upregulation of OPN expression is mediated by transcription factor SOX9 in an mTOR-independent manner. Moreover, ablation of OPN by deficient TSC1/TSC2 complex contributed to inactivation of AKT in TSC cells
These findings would provide of great insight in further exploring the molecular regulation of miR-126-3p and TSC1 on the functions of granulosa cells during the folliculogenesis in mammals.
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
, tuberous sclerosis 1a