Results 31 to 40 of about 28,615 (209)

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

Targeting protein homeostasis with nelfinavir/salinomycin dual therapy effectively [PDF]

, 2017
Uncontrolled cell growth in Tuberous Sclerosis Complex occurs due to inappropriate activation of mechanistic (mammalian) target of rapamycin complex 1 (mTORC1).
Dunlop, Elaine A, Errington, Rachel Jane, Johnson, Charlotte, Tee, Andrew, Wiltshire, Marie   +4 more
core   +1 more source

Insulin stimulates adipogenesis through the Akt-TSC2-mTORC1 pathway.

PLoS ONE, 2009
BackgroundThe signaling pathways imposing hormonal control over adipocyte differentiation are poorly understood. While insulin and Akt signaling have been found previously to be essential for adipogenesis, the relative importance of their many downstream
Hui H Zhang, Jingxiang Huang, Katrin Düvel, Bernard Boback, Shulin Wu, Rachel M Squillace, Chin-Lee Wu, Brendan D Manning   +7 more
doaj   +1 more source

A systems biology approach to define mechanisms, phenotypes, and drivers in PanNETs with a personalized perspective

npj Systems Biology and Applications, 2023
Pancreatic neuroendocrine tumors (PanNETs) are a rare tumor entity with largely unpredictable progression and increasing incidence in developed countries.
Silke D. Werle, Nensi Ikonomi, Ludwig Lausser, Annika M. T. U. Kestler, Felix M. Weidner, Julian D. Schwab, Julia Maier, Malte Buchholz, Thomas M. Gress, Angelika M. R. Kestler, Hans A. Kestler   +10 more
doaj   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Neuroinflammatory targets and treatments for epilepsy validated in experimental models [PDF]

, 2017
A large body of evidence that has accumulated over the past decade strongly supports the role of inflammation in the pathophysiology of human epilepsy.
Aronica, Eleonora, Bauer, Sebastian, Bozzi, Yuri, Caleo, Matteo, Dingledine, Raymond, Gorter, Jan A., Henshall, David C., Kaminski, Rafal M., Kaufer, Daniela, Koh, Sookyong, Lã¶scher, Wolfgang, Louboutin, Jean-pierre, Mishto, Michele, Norwood, Braxton A., Palma, Eleonora, Poulter, Michael O., Terrone, Gaetano, Vezzani, Annamaria   +17 more
core   +5 more sources

Mechanisms of TSC-mediated control of synapse assembly and axon guidance. [PDF]

PLoS ONE, 2007
Tuberous sclerosis complex is a dominant genetic disorder produced by mutations in either of two tumor suppressor genes, TSC1 and TSC2; it is characterized by hamartomatous tumors, and is associated with severe neurological and behavioral disturbances ...
Sarah Knox, Hong Ge, Brian D Dimitroff, Yi Ren, Katie A Howe, Andrew M Arsham, Mathew C Easterday, Thomas P Neufeld, Michael B O'Connor, Scott B Selleck   +9 more
doaj   +1 more source

PRAS40 and PRR5-like protein are new mTOR interactors that regulate apoptosis. [PDF]

PLoS ONE, 2007
TOR (Target of Rapamycin) is a highly conserved protein kinase and a central controller of cell growth. TOR is found in two functionally and structurally distinct multiprotein complexes termed TOR complex 1 (TORC1) and TOR complex 2 (TORC2).
Kathrin Thedieck, Pazit Polak, Man Lyang Kim, Klaus D Molle, Adiel Cohen, Paul Jenö, Cécile Arrieumerlou, Michael N Hall   +7 more
doaj   +1 more source

Imaging features of rare mesenychmal liver tumours: beyond haemangiomas. [PDF]

, 2017
Tumours arising from mesenchymal tissue components such as vascular, fibrous and adipose tissue can manifest in the liver. Although histopathology is often necessary for definitive diagnosis, many of these lesions exhibit characteristic imaging features.
Ahmed, Kareem, Deshmukh, Sandeep P., Elsayes, Khaled M., Kang, Hyunseon C., Korivi, Brinda Rao, Menias, Christine O., Pickhardt, Perry J., Thampy, Rajesh   +7 more
core   +3 more sources

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

Stem Cell Research
The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng, Lu Liu, Qian Ren, Qun Wang, Wei Shan   +4 more
doaj   +1 more source