Results 61 to 70 of about 20,510 (176)

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., Teleman, A., Demetriades, C.   +2 more
openaire   +3 more sources

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +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

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

Chemical Biology Screening Identifies a Vulnerability to Checkpoint Kinase Inhibitors in TSC2-Deficient Renal Angiomyolipomas

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, Jennifer J. Kordich, Chun-Yuan Chan, Nanda K. Sasi, Stephanie L. Celano, Stephanie L. Celano, Kellie A. Sisson, Megan Van Baren, Matthew G. Kortus, Dean J. Aguiar, Katie R. Martin, Katie R. Martin, Jeffrey P. MacKeigan, Jeffrey P. MacKeigan, Jeffrey P. MacKeigan   +14 more
doaj   +1 more source

Phthalate Metabolite, Mono(2‐Ethyl‐5‐Hydroxyhexyl) Phthalate (MEHHP), Promotes Uterine‐Fibroid–Associated Phenotypes in Myometrial Stem Cell‐Derived 3D Organoids

Environmental Toxicology, EarlyView.
ABSTRACT This study investigates how phthalate exposure contributes to uterine fibroid (UF) development by studying the effects of the Mono‐(2‐ethyl‐5‐hydroxyhexyl) phthalate (MEHHP), a metabolite of Di(2‐ethylhexyl) phthalate, on myometrial stem cells (MMSCs).
Somayeh Vafaei, Mervat M. Omran, Qiwei Yang, Sandra Madueke‐Laveaux, Ami R. Zota, Ayman Al‐Hendy, Mohamed Ali   +6 more
wiley   +1 more source

Non‐canonical PKG1 regulation in cardiovascular health and disease

British Journal of Pharmacology, EarlyView.
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley   +1 more source

Clinical and Genetic Landscape of Glioblastoma, IDH‐Wildtype With FGFR Gene Family Alterations

Cancer Science, EarlyView.
We analyzed 1076 cases of glioblastoma, IDH‐wildtype (GBM, IDH‐wt) using the C‐CAT genomic database to clarify the clinical and genetic features of FGFR alterations. FGFR::TACC fusions and FGFR1 mutations were identified in distinct subsets and were associated with unique co‐mutation patterns.
Yasuhito Kegoya, Yoshihiro Otani, Ryo Mizuta, Ryosuke Ikemachi, Mako Kamiura, Joji Ishida, Shinichi Toyooka, Daisuke Ennishi, Shuta Tomida, Shota Tanaka   +9 more
wiley   +1 more source

TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells

Molecules, 2017
Olaquindox, a feed additive, has drawn public attention due to its potential mutagenicity, genotoxicity, hepatoxicity and nephrotoxicity. The purpose of this study was to investigate the role of tuberous sclerosis complex (TSC2) pathways in olaquindox ...
Daowen Li, Kena Zhao, Xiayun Yang, Xilong Xiao, Shusheng Tang   +4 more
doaj   +1 more source

mTOR signaling and endometrial receptivity in infertile women with intramural uterine leiomyomas

Middle East Fertility Society Journal, 2023
Background Receptive endometrium is a restraining factor in the establishment of pregnancy in several estrogen-dependent gynecological disorders including uterine leiomyomas. Recently, data are beginning to accrue suggesting negative impact of non-cavity
Annu Makker, Madhu Mati Goel, Dipti Nigam, Isha Makker, Amita Pandey   +4 more
doaj   +1 more source