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TranscriptomicsThe TSC/mTOR pathway regulates the innate inflammatory response
The TSC/mTOR (tuberous sclerosis complex/mammalian target of rapamycin) pathway has a central role in cell growth and is involved in human tumorigenesis. Here, we demonstrate an unexpected role of TSC2 and mTOR in regulating key inflammatory cytokines in monocytes, macrophages, and dendritic cells a...
ORGANISM(S): Homo sapiens 
2010-05-19 | E-GEOD-6002 | biostudies-arrayexpress
GenomicThe Genomic Landscape of Tuberous Sclerosis Complex (TSC)

In this study, we characterized the genomic landscape of tuberous sclerosis complex (TSC), a rare genetic disease causing multisystem growth of benign tumors and other hamartomatous lesions. We analyzed 127 human tissues, including 111 TSC-associated samples and 16 non-TSC negative controls, usin...

phs001357 | dbGaP
TranscriptomicsPromoter Capture Hi-C of mouse ESC and TSC
Chromatin organisation of trophoblast stem cells (TSC) were compared with that of embryonic stem cells (ESC). The method enriches Hi-C libraries, to detect promoter interactions at restriction fragment level. We prepared Hi-C libraries from TSC and ESC (serum grown) samples and enriched them with a ...
ORGANISM(S): Mus musculus 
2018-09-05 | E-MTAB-6585 | biostudies-arrayexpress
GenomicsChordoma associated with tuberous sclerosis complex (TSC)
Chordoma associated with tuberous sclerosis complex (TSC)
PRJNA807369 | ENA
TranscriptomicsTranscription profiling of human uberous sclerosis complex (TSC) Tumor Fibroblasts
Patients with tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting in mammalian target of rapamycin (mTOR) activation. Hamartomas overgrow epithelial and mesenchymal cells in TSC skin. The pathogenetic mechanisms for these ...
ORGANISM(S): Homo sapiens 
2008-04-06 | E-GEOD-9715 | biostudies-arrayexpress
ProteomicsPhosphoproteomics reveals altered RNA splicing as a major potential driver of pathology in the brain in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare disease caused by mutations in the genes TSC1 and TSC2, resulting in activation of mechanistic target of rapamycin complex 1 (mTORC1). Neurological manifestations occur in most TSC patients and include epilepsy, autism and intellectual disability. Two types...
ORGANISM(S): Homo sapiens (Human) 
2026-04-13 | PXD069405 | Pride
Tmtpro Rna processing Tsc Human Segas Tubers Mtor 
UnknownPerfect match: mTOR inhibitors and tuberous sclerosis complex.
Not available
S-EPMC8895788 | biostudies-literature
ProteomicsPilot Study Evaluating Everolimus Molecular Mechanisms in Tuberous Sclerosis Complex (TSC) and Focal Cortical Dysplasia (FCD)
Treatment resistant epilepsy in tuberous sclerosis complex (TSC) and some focal cortical dysplasias (FCDs) are associated with dysfunctional mammalian target of rapamycin (mTOR) signaling. This can upregulate cell growth and proliferation, with increased downstream ribosomal S6 protein phosphorylati...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-12-10 | MSV000088551 | MassIVE
TranscriptomicsPlacental PPARg-Regulated Genes
Robust identification of placental PPARg target genes via mutliple PPARg-dependence criteria. Integration of differential expression data from Pparg-null, Rxra-null, Med1-nul and Ncoa6-null placentas and from WT and Pparg-null Trophoblast stem cells (TSC) differentiated for 2 or 4 days in the presen...
ORGANISM(S): Mus musculus 
2012-07-09 | E-GEOD-39233 | biostudies-arrayexpress
TranscriptomicsRapamycin effect on Wild Type and TSC deficient Mouse Embryonic Fibroblasts : Time Course
Aberrant activation of the mammalian target of rapamycin (mTOR) complex 1 (mTORC1) is a common molecular event in a large variety of pathological settings, including genetic tumor syndromes, cancer, and obesity. However, the cell intrinsic consequences of mTORC1 activation remain poorly defined. He...
ORGANISM(S): Mus musculus 
2010-07-30 | E-GEOD-21755 | biostudies-arrayexpress
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