Results 51 to 60 of about 23,999 (238)

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

, 2021
Background: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex ...
Selma Demir, Atli, Emine Ikbal, Karal, Yasemin, Engin Atlı, Eker, Damla, Yalcintepe, Sinem, Demir, Selma, Yalcin, Yelda, Emine İkbal Atlı, Damla Eker, Sinem Yalçıntepe, Yasemin Karal, Yelda Yalçın, Hakan Gürkan, Atli, Engin   +14 more
core   +1 more source

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

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Interactions between TSC2 and the TSC1delex proteins.

, 2014
C-terminal myc-tagged TSC1delex proteins were co-expressed with TSC2 in transfected HEK 293T cells. TSC1-TSC2 complexes were immunoprecipitated with an antibody specific for the myc tag.
Marianne Hoogeveen-Westerveld (549062), Ans van den Ouweland (89937), Ushio Kikkawa (226238), Anneke Maat-Kievit (549063), Dicky Halley (366558), Mark Nellist (549064), Arthur Jorge Santiago Lima (549061), Akio Nakashima (271973)   +7 more
core   +1 more source

Molecular brakes regulating mTORC1 activation in skeletal muscle following synergist ablation [PDF]

, 2014
The goal of the current work was to profile positive (mTORC1 activation, autocrine/paracrine growth factors) and negative [AMPK, unfolded protein response (UPR)] pathways that might regulate overload-induced mTORC1 activation with the hypothesis that a ...
Hamilton, D. Lee, Gallagher, Iain J, Philp, A., Baar, Keith, Towler, Mhairi C., Bodine, S. C., Gallagher, Iain J., Philp, Andrew, Towler, M. C., Baar, K., Towler, Mhairi C, Mackenzie, M. G., Gallagher, I. J., Patton, Amy, Hamilton, David Lee, Patton, A., MacKenzie, Matthew G., Lee Hamilton, D., Bodine, Sue C, Bodine, Sue C., MacKenzie, Matthew G   +20 more
core   +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

Delayed brain and spine migration of a retained SEEG electrode fragment: An unexpected complication

Epileptic Disorders, EarlyView.
Abstract Background Stereoelectroencephalography (SEEG) is a well‐established technique for localizing epileptogenic zones in patients with drug‐resistant epilepsy, including children. While considered safe, rare but serious complications can occur.
Manel Krouma, Julia Makhalova, Gauthier Toutain, Francesca Pizzo, Stanislas Lagarde, Anne Lepine, Fabrice Bartolomei, Didier Scavarda   +7 more
wiley   +1 more source

Targeting Rb Mutant Cancers by Inactivating TSC2

Oncotarget, 2010
Retinoblastoma (Rb), a tumor suppressor gene, is inactivated in many types of cancer. However little is known about how the loss of Rb function can be targeted in cancer therapies. We have identified that inactivation of TSC2 in Rb mutant cancer cells will induce a synergistic cell death.
Jennifer S, Searle, Binghui, Li, Wei, Du
openaire   +2 more sources