Results 71 to 80 of about 36,428 (236)
Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner [PDF]
, 2009 Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in prominent CNS manifestations including epilepsy, mental retardation, and autism spectrum disorder.
Cho, Namjik +6 more
core +1 more source
Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley +1 more source
TSC2 Mutations Were Associated with the Early Recurrence of Patients with HCC Underwent Hepatectomy
Pharmacogenomics and Personalized Medicine, 2021 Kangjian Song, Fu He, Yang Xin, Ge Guan, Junyu Huo, Qingwei Zhu, Ning Fan, Yuan Guo, Yunjin Zang, Liqun Wu Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ChinaCorrespondence: Liqun WuLiver
Song K +9 more
doaj
Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]
, 2019 The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J +11 more
core +1 more source
Doxycycline reduces the migration of tuberous sclerosis complex-2 null cells - effects on RhoA-GTPase and focal adhesion kinase [PDF]
, 2015 & Sons Ltd and Foundation for Cellular and Molecular Medicine. Lymphangioleiomyomatosis (LAM) is associated with dysfunction of the tuberous sclerosis complex (TSC) leading to enhanced cell proliferation and migration.
Black, JL +5 more
core +1 more source
Delayed brain and spine migration of a retained SEEG electrode fragment: An unexpected complication
Epileptic Disorders, EarlyView.Abstract Background Stereoelectroencephalography (SEEG) is a well‐established technique for localizing epileptogenic zones in patients with drug‐resistant epilepsy, including children. While considered safe, rare but serious complications can occur.
Manel Krouma +7 more
wiley +1 more source
TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β [PDF]
Human Molecular Genetics, 2018 Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway.
Barbara, Ogórek +8 more
openaire +2 more sources
Epilepsia, EarlyView.Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing +4 more
wiley +1 more source
TSC2 mediates hyperosmotic stress-induced inactivation of mTORC1 [PDF]
Scientific Reports, 2015 AbstractmTOR complex 1 (mTORC1) regulates cell growth and metabolism. mTORC1 activity is regulated via integration of positive growth-promoting stimuli and negative stress stimuli. One stress cells confront in physiological and pathophysiological contexts is hyperosmotic stress.
Plescher, M. +2 more
openaire +3 more sources
Frontiers in Oncology, 2022 The tuberous sclerosis complex (TSC) is a rare genetic syndrome and multisystem disease resulting in tumor formation in major organs. A molecular hallmark of TSC is a dysregulation of the mammalian target of rapamycin (mTOR) through loss-of-function ...
Robert M. Vaughan +14 more
doaj +1 more source