Results 71 to 80 of about 25,325 (232)

Evidence for population variation in TSC1 and TSC2 gene expression [PDF]

BMC Medical Genetics, 2011
AbstractBackgroundTuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes,TSC1orTSC2, which encode the proteins hamartin and tuberin, respectively [1–3]. Common features of TSC include intractable epilepsy, mental retardation, and autistic features.
Saffen David, Olfers Shannon, Rice Stephen G, Jentarra Garilyn M, Narayanan Vinodh   +4 more
openaire   +3 more sources

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, He F, Xin Y, Guan G, Huo J, Zhu Q, Fan N, Guo Y, Zang Y, Wu L   +9 more
doaj  

mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy. [PDF]

PLoS ONE, 2016
Mammalian target of rapamycin complex 1 (mTORC1) is a key regulator of cell growth, proliferation and metabolism. mTORC1 regulates protein synthesis positively and autophagy negatively. Autophagy is a major system to manage bulk degradation and recycling
Manabu Taneike, Kazuhiko Nishida, Shigemiki Omiya, Elham Zarrinpashneh, Tomofumi Misaka, Rika Kitazume-Taneike, Ruth Austin, Minoru Takaoka, Osamu Yamaguchi, Michael J Gambello, Ajay M Shah, Kinya Otsu   +11 more
doaj   +1 more source

Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis

Epilepsia Open, EarlyView.
Abstract Objective Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early‐onset drug‐resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo‐EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects
Julie Uchitel, Olubunmi Fariyike, Samantha Steeman, Sarah Rockwood, Lily H. Kim, John Choi, Astrid C. Hengartner, Aiden H. Fel, Prathyusha Teeyagura, Gerald Grant, Vivek Buch, Kelly B. Mahaney, Laura M. Prolo, Ann Hyslop Segeren, H. Westley Phillips   +14 more
wiley   +1 more source

TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy

, 2016
There is a growing evidence of the role of protein acetylation in different processes controlling metabolism. Sirtuins (histone deacetylases nicotinamide adenine dinucleotide-dependent) activate autophagy playing a protective role in cell homeostasis ...
Bartolome, A, Benito De Las Heras, Manuel R., Guillen, C, Nellist, Mark, Bartolomé, Alberto, Benito, M, Guillén, Garcia-Aguilar, A, Guillén Viejo, Carlos, García Aguilar, Ana   +9 more
core   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

Epilepsia Open, EarlyView.
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo   +7 more
wiley   +1 more source

Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing

Stem Cell Research
Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we ...
Siyao Zhang, Jiaqi Fan, Hairui Sun, Xiaoyan Hao, Yihua He   +4 more
doaj   +1 more source

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

Neurobiology of Disease, 2017
Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC ...
Chloë Scheldeman, James D. Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M. Iyer, Benjamin J. Whalley, Jan Maes, Anna C. Jansen, Lieven Lagae, Eleonora Aronica, Peter A.M. de Witte   +11 more
doaj   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

TSC2 S1365A mutation potently regulates CD8+ T cell function and differentiation and improves adoptive cellular cancer therapy

JCI Insight, 2023
MTORC1 integrates signaling from the immune microenvironment to regulate T cell activation, differentiation, and function. TSC2 in the tuberous sclerosis complex tightly regulates mTORC1 activation.
Chirag H. Patel, Yi Dong, Navid Koleini, Xiaoxu Wang, Brittany L. Dunkerly-Eyring, Jiayu Wen, Mark J. Ranek, Laura M. Bartle, Daniel B. Henderson, Jason Sagert, David A. Kass, Jonathan D. Powell   +11 more
doaj   +1 more source