Conditional knockout of Tsc1 in RORγt-expressing cells induces brain damage and early death in mice
Journal of Neuroinflammation, 2021 Background Tuberous sclerosis complex 1 (Tsc1) is known to regulate the development and function of various cell types, and RORγt is a critical transcription factor in the immune system.
Yafei Deng +12 more
doaj +1 more source
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]
, 2018 Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I +7 more
core +2 more sources
MTOR cross-talk in cancer and potential for combination therapy [PDF]
, 2018 The mammalian Target of Rapamycin (mTOR) pathway plays an essential role in sensing and integrating a variety of exogenous cues to regulate cellular growth and metabolism, in both physiological and pathological conditions.
Bazzichetto, C. +7 more
core +3 more sources
Noninflammatory Changes of Microglia Are Sufficient to Cause Epilepsy. [PDF]
, 2018 Microglia are well known to play a critical role in maintaining brain homeostasis. However, their role in epileptogenesis has yet to be determined.
Adamo, Matthew A +13 more
core +2 more sources
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. [PDF]
PLoS ONE, 2014 Germline and somatic biallelic mutations of the Tuberous sclerosis complex (TSC) 1 and TSC2 gene products cause TSC, an autosomal dominant multifocal hamartomatosis with variable neurological manifestations. The consequences of TSC1 or TSC2 loss in cells
Karolina Pilipow +3 more
doaj +1 more source
Molecular Autism, 2023 Background Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders ...
Inci S. Aksoylu +12 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2020 The TSC1 and TSC2 genes are connected to multiple syndromes from Tuberous Sclerosis Complex (TSC) to autism spectrum disorder (ASD), with uncertainty if genetic variants cause all or subsets of phenotypes based on the location and type of change.
Dean Wundrach +13 more
doaj +1 more source
Oncogenic role of MiR-130a in oral squamous cell carcinoma
Scientific Reports, 2021 Aberrant activation of the PI3K/AKT/mTOR pathway is attributed to the pathogenesis of oral squamous cell carcinoma (OSCC). In recent years, increasing evidence suggests the involvement of microRNAs (miRNAs) in oral carcinogenesis by acting as tumor ...
Karthik Mallela +3 more
doaj +1 more source
A Foundation Theory of Quantum Mechanics [PDF]
, 2006 The nRules are empirical regularities that were discovered in macroscopic situations where the outcome is known. When they are projected theoretically into the microscopic domain they predict a novel ontology including the frequent collapse of an atomic ...
Mould, Richard A
core +2 more sources
Tsc1 Regulates the Proliferation Capacity of Bone-Marrow Derived Mesenchymal Stem Cells
Cells, 2020 TSC1 is a tumor suppressor that inhibits cell growth via negative regulation of the mammalian target of rapamycin complex (mTORC1). TSC1 mutations are associated with Tuberous Sclerosis Complex (TSC), characterized by multiple benign tumors of ...
Maria V. Guijarro +6 more
doaj +1 more source