Results 41 to 50 of about 20,510 (176)

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj   +1 more source

Tsc2 mutation induces renal tubular cell nonautonomous disease

Genes & Diseases, 2022
TSC renal cystic disease is poorly understood and has no approved treatment. In a new principal cell-targeted murine model of Tsc cystic disease, the renal cystic epithelium is mostly composed of type A intercalated cells with an intact Tsc2 gene confirmed by sequencing, although these cells exhibit a Tsc-mutant disease phenotype.
Prashant Kumar, Fahad Zadjali, Ying Yao, Daniel Johnson, Brian Siroky, Aristotelis Astrinidis, Peter Vogel, Kenneth W. Gross, John J. Bissler   +8 more
openaire   +3 more sources

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. [PDF]

PLoS ONE, 2014
Tuberous sclerosis syndrome (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting multiple organs, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM).
Chenggang Li, Erik Zhang, Yang Sun, Po-Shun Lee, Yongzhong Zhan, Yanan Guo, Juan C Osorio, Ivan O Rosas, Kai-Feng Xu, David J Kwiatkowski, Jane J Yu   +10 more
doaj   +1 more source

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

Advanced Science, EarlyView.
This work introduces an open‐source all‐optical platform for functional phenotyping of human stem cell‐derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and analysis to resolve single‐cell and network activity, enabling longitudinal measurements, disease modeling, and pharmacological screening in preclinical ...
Wardiya Afshar‐Saber, Federico M. Gasparoli, Ziqin Yang, Nicole A. Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D. Buttermore, Kellen D. Winden, Cidi Chen, Mustafa Sahin   +12 more
wiley   +1 more source

Ablation of TSC2 enhances insulin secretion by increasing the number of mitochondria through activation of mTORC1. [PDF]

PLoS ONE, 2011
AIM:We previously found that chronic tuberous sclerosis protein 2 (TSC2) deletion induces activation of mammalian target of rapamycin Complex 1 (mTORC1) and leads to hypertrophy of pancreatic beta cells from pancreatic beta cell-specific TSC2 knockout ...
Maki Koyanagi, Shun-ichiro Asahara, Tomokazu Matsuda, Naoko Hashimoto, Yutaka Shigeyama, Yuki Shibutani, Ayumi Kanno, Megumi Fuchita, Tomoko Mikami, Tetsutya Hosooka, Hiroshi Inoue, Michihiro Matsumoto, Masato Koike, Yasuo Uchiyama, Tetsuo Noda, Susumu Seino, Masato Kasuga, Yoshiaki Kido   +17 more
doaj   +1 more source

Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

PLoS ONE, 2021
Inactivating mutations in either TSC1 or TSC2 cause Tuberous Sclerosis Complex, an autosomal dominant disorder, characterized by multi-system tumor and hamartoma development.
Evelyn M Mrozek, Vineeta Bajaj, Yanan Guo, Izabela A Malinowska, Jianming Zhang, David J Kwiatkowski   +5 more
doaj   +1 more source

Regulation of TSC2 by 14-3-3 Binding [PDF]

Journal of Biological Chemistry, 2002
Mutation in either the TSC1 or TSC2 tumor suppressor gene is responsible for the inherited genetic disease of tuberous sclerosis complex. TSC1 and TSC2 form a physical and functional complex to regulate cell growth. Recently, it has been demonstrated that TSC1.TSC2 functions to inhibit ribosomal S6 kinase and negatively regulate cell size.
Yong, Li, Ken, Inoki, Raymond, Yeung, Kun-Liang, Guan   +3 more
openaire   +2 more sources

Post‐Translational Regulation of CD8+ T Cell Fate and Dysfunction in Tumor Immunity

Advanced Science, EarlyView.
This review delineates how post‐translational modifications (PTMs) function as a central regulatory interface governing CD8+ T cell activation, differentiation, persistence, and exhaustion in antitumor immunity. By integrating antigenic, metabolic, and microenvironmental cues, diverse PTM programs coordinate transcriptional and chromatin states that ...
Zihao Zhou, Xu Chen, Nina Li, Meiyan Zou, Yunfan Lin, Pei Lin, Weiyao Feng, Xinyuan Zhao, Li Cui   +8 more
wiley   +1 more source