Results 11 to 20 of about 25,279 (224)

Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing [PDF]

Journal of Integrative Neuroscience, 2021
Epilepsy is a common heterogeneous group of neurological disorders including electroencephalographic and brain imaging. We used whole exome sequencing and whole genome sequencing to identify variants in a pedigree associated with epilepsy.
Qin-Qin Zhang, Zi-Hua Wang, Jun-Shi Zhang, Jun-Nan Guo, Xu-Hong Lin, Lei An   +5 more
doaj   +1 more source

TSC2 regulates tumor susceptibility to TRAIL‐mediated T‐cell killing by orchestrating mTOR signaling

EMBO Journal, 2023
Resistance to cancer immunotherapy continues to impair common clinical benefit. Here, we use whole‐genome CRISPR‐Cas9 knockout data to uncover an important role for Tuberous Sclerosis Complex 2 (TSC2) in determining tumor susceptibility to cytotoxic T ...
Chun-Pu Lin, J. Traets, David W. Vredevoogd, Nils L. Visser, D. Peeper   +4 more
semanticscholar   +1 more source

Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non–small cell lung cancer

Science Advances, 2022
Tuberous sclerosis complex subunit 1 (TSC1) and 2 (TSC2) are frequently mutated in non–small cell lung cancer (NSCLC), however, their effects on antitumor immunity remained unexplored.
Qingyuan Huang, Fei Li, Hai-yang Hu, Zhaoyuan Fang, Zhendong Gao, Guozhan Xia, Wai-Lung Ng, A. Khodadadi-Jamayran, Ting Chen, Jiehui Deng, Hua Zhang, C. Almonte, K. Labbe, Han Han, Ke Geng, Sittinon Tang, G. Freeman, Yuan Li, Haiquan Chen, Kwok-kin Wong   +19 more
semanticscholar   +1 more source

An mTORC1-mediated negative feedback loop constrains amino acid-induced FLCN-Rag activation in renal cells with TSC2 loss

Nature Communications, 2022
The mechanistic target of rapamycin complex 1 (mTORC1) integrates inputs from growth factors and nutrients, but how mTORC1 autoregulates its activity remains unclear.
K. Asrani, Juhyung Woo, A. Mendes, Ethan Schaffer, T. Vidotto, Clarence Rachel Villanueva, Kewen Feng, L. Oliveira, S. Murali, Hans B. Liu, Daniela C. Salles, B. Lam, P. Argani, T. Lotan   +13 more
semanticscholar   +1 more source

Tumor suppressors TSC1 and TSC2 differentially modulate actin cytoskeleton and motility of mouse embryonic fibroblasts. [PDF]

PLoS ONE, 2014
TSC1 and TSC2 mutations cause neoplasms in rare disease pulmonary LAM and neuronal pathfinding in hamartoma syndrome TSC. The specific roles of TSC1 and TSC2 in actin remodeling and the modulation of cell motility, however, are not well understood ...
Elena A Goncharova, Melane L James, Tatiana V Kudryashova, Dmitry A Goncharov, Vera P Krymskaya   +4 more
doaj   +1 more source

Cross-talk between TSC2 and the extracellular matrix controls pulmonary vascular proliferation and pulmonary hypertension

Science Signaling, 2022
Increased proliferation and survival of cells in small pulmonary arteries (PAs) drive pulmonary arterial hypertension (PAH). Because cell growth mediated by the mTOR-containing mTORC1 complex is inhibited by tuberous sclerosis complex 2 (TSC2), we ...
Yuanjun Shen, D. Goncharov, A. Pena, J. Baust, A. Chavez Barragan, A. Ray, A. Rode, T. Bachman, B. Chang, Lifeng Jiang, P. Dieffenbach, L. Fredenburgh, M. Rojas, H. DeLisser, A. Mora, Tatiana V. Kudryashova, E. Goncharova   +16 more
semanticscholar   +1 more source

Hypo-Expression of Tuberin Promotes Adenomyosis via the mTOR1-Autophagy Axis

Frontiers in Cell and Developmental Biology, 2021
Adenomyosis (AM) is a disease in which endometrial tissue invades the myometrium and has a 10–60% prevalence in reproductive-aged women. TSC2 regulates autophagy via mTOR1 signalling in colorectal cancer and endometrial carcinoma.
Ni-Hao Gu, Ni-Hao Gu, Ni-Hao Gu, Guo-Jing Li, Guo-Jing Li, Guo-Jing Li, Bing-Xin Yang, Bing-Xin Yang, Bing-Xin Yang, Min You, Min You, Min You, Yu Lin, Yu Lin, Yu Lin, Feng Sun, Feng Sun, Feng Sun, Hong Xu, Hong Xu, Hong Xu   +20 more
doaj   +1 more source

TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism

Nature Communications, 2021
Tuberous Sclerosis Complex (TSC) is caused by TSC1 or TSC2 mutations, resulting in hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1).
N. Alesi, E. Akl, D. Khabibullin, Heng-Jia Liu, Anna S. Nidhiry, Emma R. Garner, H. Filippakis, H. Lam, W. Shi, S. Viswanathan, M. Morroni, S. Ferguson, E. Henske   +12 more
semanticscholar   +1 more source

Long non-coding RNA ACTA2-AS1 inhibits the cisplatin resistance of non-small cell lung cancer cells through inhibiting autophagy by suppressing TSC2

Cell Cycle, 2022
Long non-coding RNA (lncRNA) ACTA2-AS1 has been reported to play an important role in the progression of multiple human malignancies. The article aims to explore the role of ACTA2-AS1 on the cisplatin resistance of non-small cell lung cancer (NSCLC).
Xuehui Liu, Xufeng Zhang, Shuzhang Du
semanticscholar   +1 more source

MTORC1-Regulated Metabolism Controlled by TSC2 Limits Cardiac Reperfusion Injury.

Circulation Research, 2021
Rationale: The mechanistic target of rapamycin complex-1 (mTORC1) controls metabolism and protein homeostasis, and is activated following ischemic reperfusion (IR) injury and by ischemic preconditioning (IPC).
Chistian U. Oeing, Seungho Jun, Sumita Mishra, B. Dunkerly-Eyring, Anna Chen, Maria I Grajeda, Usman A. Tahir, R. Gerszten, N. Paolocci, M. Ranek, D. Kass   +10 more
semanticscholar   +1 more source