Results 41 to 50 of about 36,428 (236)

Phase I dose-escalation study of the mTOR inhibitor sirolimus and the HDAC inhibitor vorinostat in patients with advanced malignancy. [PDF]

, 2016
Preclinical models suggest that histone deacetylase (HDAC) and mammalian target of rapamycin (mTOR) inhibitors have synergistic anticancer activity. We designed a phase I study to determine the safety, maximum tolerated dose (MTD), recommended phase II ...
Falchook, Gerald S., Fanale, Michelle A., Fu, Siqing, Garrido-Laguna, Ignacio, Hong, David S., Janku, Filip, Kaseb, Ahmed O., Kurzrock, Razelle, Meric-Bernstam, Funda, Naing, Aung, Park, Haeseong, Patel, Shreyaskumar, Piha-Paul, Sarina A., Subbiah, Vivek, Tsimberidou, Apostolia M., Velez-Bravo, Vivianne M M., Wheler, Jennifer J., Zinner, Ralph G.   +17 more
core   +2 more sources

Class III PI3K regulates organismal glucose homeostasis by providing negative feedback on hepatic insulin signalling. [PDF]

, 2015
Defective hepatic insulin receptor (IR) signalling is a pathogenic manifestation of metabolic disorders including obesity and diabetes. The endo/lysosomal trafficking system may coordinate insulin action and nutrient homeostasis by endocytosis of IR and ...
Burnol, Anne-Françoise, Guan, Kun-Liang, Montagnac, Guillaume, Morzyglod, Lucille, Nemazanyy, Ivan, Panasyuk, Ganna, Pende, Mario, Russell, Ryan C   +7 more
core   +1 more source

The Methylation of the TSC2 Promoter Underlies the Abnormal Growth of TSC2 Angiomyolipoma-Derived Smooth Muscle Cells [PDF]

The American Journal of Pathology, 2009
Tuberous sclerosis complex (TSC) is an autosomal-dominant disease that is caused by mutations in either the TSC1 or TSC2 gene. Smooth muscle-like cells (ASMs) were isolated from an angiomyolipoma of a patient with TSC. These cells lacked tuberin, were labeled by both HMB45 and CD44v6 antibodies, and had constitutive S6 phosphorylation. The cells bear a
E. Lesma, SM. Sirchia, S. Ancona, S. Carelli, S. Bosari, F. Ghelma, E. Montanari, AM. Di Giulio, A. Gorio   +8 more
openaire   +3 more sources

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors [PDF]

, 2015
Over the past few years, knowledge regarding the molecular pathology of sporadic pancreatic neuroendocrine tumors (PNETs) has increased substantially, and a number of targeted agents have been tested in clinical trials in this tumor type.
Ahn, Balogh, Bergers, Berruti, Capurso, Capurso, Carew, Castellano, Chamberlain, Chan, Chan, Chen, Clynes, Corbo, Corbo, Couvelard, De Wilde, Di Florio, Di Florio, Di Florio, Fazio, Fendrich, Gaur, Gurung, Han, Heaphy, Heaphy, Hobday, Hopfner, House, Jacinto, Jensen, Jiao, Karnik, Karnik, Komori, Kulke, Laplante, Loewith, Lovejoy, Luzi, Marinoni, Marion-Audibert, Mendel, Meric-Bernstam, Missiaglia, Mocellin, Panzuto, Papouchado, Passacantilli, Perren, Pàez-Ribes, Raymond, Sarbassov, Scoazec, Shah, Shi, Tang, Vinagre, Wang, Yang, Yao, Yuan, Zhang, Zhang   +64 more
core   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources

Regulation of TSC2 lysosome translocation and mitochondrial turnover by TSC2 acetylation status

Scientific Reports
AbstractSirtuin1 (SIRT1) activity decreases the tuberous sclerosis complex 2 (TSC2) lysine acetylation status, inhibiting the mechanistic target of rapamycin complex 1 (mTORC1) signalling and concomitantly, activating autophagy. This study analyzes the role of TSC2 acetylation levels in its translocation to the lysosome and the mitochondrial turnover ...
Patricia Marqués, Jesús Burillo, Carlos González-Blanco, Beatriz Jiménez, Gema García, Ana García-Aguilar, Sarai Iglesias-Fortes, Ángela Lockwood, Carlos Guillén   +8 more
openaire   +5 more sources

A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation

罕见病研究
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations.
ZHANG Hongli, DAI Jiayuan, WANG Yan, ZHANG Weihong, MA Wenbin, FU Hanhui, HE Chunxia, ZHENG Jun, WANG Wenda, ZUO Wei, LIU Yaping, SHEN Min   +11 more
doaj   +1 more source

Deletion of Tsc2 in nociceptors reduces target innervation, ion channel expression, and sensitivity to heat [PDF]

, 2018
The mechanistic target of rapamycin complex 1 (mTORC1) is known to regulate cellular growth pathways, and its genetic activation is sufficient to enhance regenerative axon growth following injury to the central or peripheral nervous systems.
Carlin, Dan, Cavalli, Valeria, Gereau, Robert W, Golden, Judith P, Mogha, Amit, Monk, Kelly R, Samineni, Vijay K   +6 more
core   +2 more sources

Tsc2-Rheb signaling regulates EphA-mediated axon guidance [PDF]

Nature Neuroscience, 2010
Tuberous sclerosis complex is a disease caused by mutations in the TSC1 or TSC2 genes, which encode a protein complex that inhibits mTOR kinase signaling by inactivating the Rheb GTPase. Activation of mTOR promotes the formation of benign tumors in various organs and the mechanisms underlying the neurological symptoms of the disease remain largely ...
Nie D, Di Nardo A, Han JM, Baharanyi H, Kramvis I, Huynh T, Dabora S, Codeluppi S, PANDOLFI DE RINALDIS, Pier Paolo, Pasquale EB, Sahin M.   +10 more
openaire   +3 more sources