Results 31 to 40 of about 29,860 (247)
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
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
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
TSC1/2 signaling complex is essential for peripheral naïve CD8+ T cell survival and homeostasis in mice. [PDF]
PLoS ONE, 2012 The PI3K-Akt-mTOR pathway plays crucial roles in regulating both innate and adaptive immunity. However, the role of TSC1, a critical negative regulator of mTOR, in peripheral T cell homeostasis remains elusive.
Lianjun Zhang +10 more
doaj +1 more source
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
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
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
Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder. [PDF]
, 2017 Autism spectrum disorder (ASD) is a behaviorally defined disorder affecting 1 in 68 children. Currently, there is no known cause for the majority of ASD cases nor are there physiological diagnostic tools or biomarkers to aid behavioral diagnosis.
Ashwood, Paul +3 more
core +1 more source
Scientific Reports, 2017 The tuberous sclerosis complex 1/2 (TSC1/2) is an endogenous regulator of the mechanistic target of rapamycin (mTOR). While mTOR has been shown to play an important role in health and aging, the role of TSC1/2 in aging has not been fully investigated. In
Hong-Mei Zhang +3 more
doaj +1 more source
PLoS ONE, 2013 The tumor-suppressor genes TSC1 and TSC2 are mutated in tuberous sclerosis, an autosomal dominant multisystem disorder. The gene products of TSC1 and TSC2 form a protein complex that inhibits the signaling of the mammalian target of rapamycin complex1 ...
Maki Ohsawa +5 more
doaj +1 more source