Results 81 to 90 of about 29,860 (247)

Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures.

Frontiers in Molecular Neuroscience, 2014
The Pten and Tsc1 genes both encode proteins that repress mechanistic target of rapamycin (mTOR) signaling. Disruption of either gene in the brain results in epilepsy and autism-like symptoms in humans and mouse models, therefore it is important to ...
Matthew C Weston, Hongmei eChen, John W Swann   +2 more
doaj   +1 more source

Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study

Frontiers in Neurology, 2020
Tuberous sclerosis complex (TSC) is a genetic disease characterized by seizures, mental deficiency, and abnormalities of the skin, brain, kidney, heart, and lungs. TSC is inherited in an autosomal dominant manner and is caused by variations in either the
Yi-Dan Liu, Meng-Yu Ma, Xi-Bin Hu, Huan Yan, Yan-Ke Zhang, Hao-Xiang Yang, Jing-Hui Feng, Lin Wang, Hao Zhang, Bin Zhang, Qiu-Bo Li, Jun-Chen Zhang, Qing-Xia Kong, Qing-Xia Kong   +13 more
doaj   +1 more source

Tuberous sclerosis complex 1 regulates dE2F1 expression during development and cooperates with RBF1 to control proliferation and survival. [PDF]

PLoS Genetics, 2010
Previous studies in Drosophila melanogaster have demonstrated that many tumor suppressor pathways impinge on Rb/E2F to regulate proliferation and survival. Here, we report that Tuberous Sclerosis Complex 1 (TSC1), a well-established tumor suppressor that
Ting-Chiu Hsieh, Brandon N Nicolay, Maxim V Frolov, Nam-Sung Moon   +3 more
doaj   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Mutation of the 9q34 gene TSC1 in sporadic bladder cancer [PDF]

Oncogene, 1999
Deletions involving chromosome 9 occur in more than 50% of human bladder cancers of all grades and stages. Most involve loss of the whole chromosome or of an entire chromosome arm but some small deletions are found which can be used to define critical regions which may contain tumour suppressor genes.
Alison M. Davies, Joanne S. Aveyard, Tomonori Habuchi, Margaret A. Knowles, Jayne Devlin, Nick Hornigold   +5 more
openaire   +3 more sources

Long non-coding RNA OIP5-AS1 suppresses multiple myeloma progression by sponging miR-27a-3p to activate TSC1 expression

Cancer Cell International, 2020
Background Multiple myeloma (MM) is a prevalent hematological malignancy. Long noncoding RNAs are correlated with the development of MM. In this project, the function of lncRNA opa interacting protein 5-antisense 1 (OIP5-AS1) in MM and the potential ...
Yong Wang, Haibao Wang, Jianwei Ruan, Wenbiao Zheng, Zeyu Yang, Weiwei Pan   +5 more
doaj   +1 more source

Regulation of mitochondrial biogenesis in erythropoiesis by mTORC1-mediated protein translation. [PDF]

, 2017
Advances in genomic profiling present new challenges of explaining how changes in DNA and RNA are translated into proteins linking genotype to phenotype.
Cao, Hui, Chandel, Navdeep S, DeBerardinis, Ralph J, Dickerson, Kathryn E, Gu, Zhimin, Hu, Zeping, Li, Dan, Li, Mushan, Liu, Xin, Ni, Min, Shao, Zhen, Signer, Robert AJ, Weinberg, Samuel E, Xu, Jian, Zhang, Yuannyu, Zhou, Feng   +15 more
core   +1 more source

Tumor‐related epilepsy in glioma: A multidisciplinary overview

Epilepsia, EarlyView.
Abstract Seizures are a common and challenging symptom in brain tumors, affecting approximately 60% of patients. Tumor‐related epilepsy (TRE) in glioma patients requires personalized and dynamic management in a multidisciplinary environment, especially for its intricate pathophysiology and unpredictable disease evolution. This investigation provides an
Roberto Michelucci, Giada Pauletto, Antonio Silvani, Elena Pasini, Tamara Ius, Matteo Martinoni, Carlo Alberto Castioni, Andrea Salmaggi, Sofia Asioli, Marta Maschio, Giuseppe Minniti, Enrico Franceschi, Flavio Villani, Roberta Rudà, Eleonora Aronica, the Italian Multidisciplinary Group for Tumor Epilepsy, Paolo Vitali, Damiano Balestrini, Elisa D’Angelo, Lorenzo Bello, Marco Rossi, Marta Padovan, Anna Teresa Giallonardo, Carlo di Bonaventura, Francesco Toni, Angela La Neve, Simona Rizzato, Matteo Pugnaghi, Marco Vindigni, Carmelo Sturiale   +29 more
wiley   +1 more source

An expanded role of the tumor suppressor TSC1 in T cell tolerance [PDF]

Cell Cycle, 2012
During intrathymic T cell development, a huge repertoire of T cells with different antigen specificities are generated through somatic recombination at the T cell receptor (TCR) loci, which equips T cells with the capacity to recognize diverse microbial and environmental antigens. Within such a repertoire of T cells, self-reactive T cells exist and, if
openaire   +3 more sources

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients [PDF]

European Journal of Human Genetics, 2010
Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large rearrangements, nonsense, missense and frameshift mutations, have been ...
Ouweland, A.M. van den, Elfferich, P., Zonnenberg, B.A., Arts, W.F.M., Kleefstra, T., Nellist, M.D., Millan, J.M., Withagen-Hermans, C., Maat-Kievit, A.J., Halley, D.J.   +9 more
openaire   +5 more sources