Results 31 to 40 of about 25,279 (224)

Resistance to anti-HER2 therapy associated with the TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) is reversed by CDK4/6 inhibitor in HER2-positive breast cancer

npj Breast Cancer, 2023
HER2-positive breast cancer patients carrying the germline TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) are resistant to anti-HER2 therapy. Multi-predictor in silico analysis reveals that this variant is deleterious.
Ziyan Yang, Jianguo Feng, Ji Jing, Yuan Huang, Wei-Wu Ye, Lei Lei, Xiao-Jia Wang, Wen-Ming Cao   +7 more
doaj   +1 more source

Akt phosphorylates both Tsc1 and Tsc2 in Drosophila, but neither phosphorylation is required for normal animal growth. [PDF]

PLoS ONE, 2009
Akt, an essential component of the insulin pathway, is a potent inducer of tissue growth. One of Akt's phosphorylation targets is Tsc2, an inhibitor of the anabolic kinase TOR. This could account for part of Akt's growth promoting activity.
Sibylle Schleich, Aurelio A Teleman
doaj   +1 more source

Loss of Tuberous Sclerosis Complex 2 (TSC2) as a Predictive Biomarker of Response to mTOR Inhibitor Treatment in Patients with Hepatocellular Carcinoma

Translational Oncology, 2016
BACKGROUND: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related death globally. Mechanistic target of rapamycin (mTOR) is frequently up-regulated in HCC and plays an important role in HCC tumorigenesis.
Jinhyun Cho, Jeeyun Lee, Jusun Kim, Seung Tae Kim, Sujin Lee, Sun Young Kim, Sang Yun Ha, Cheol-Keun Park, Ho Yeong Lim   +8 more
doaj   +1 more source

Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

Translational Neuroscience, 2018
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population.
Almobarak Sulaiman, Almuhaizea Mohammad, Abukhaled Musaad, Alyamani Suad, Dabbagh Omar, Chedrawi Aziza, Khan Sameena, Aldhalaan Hesham   +7 more
doaj   +1 more source

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling.

Genes & Development, 2003
Tuberous sclerosis complex (TSC) is a genetic disease caused by mutation in either TSC1 or TSC2. The TSC1 and TSC2 gene products form a functional complex and inhibit phosphorylation of S6K and 4EBP1.
K. Inoki, Yong Li, Tian Xu, K. Guan
semanticscholar   +1 more source

Sodium hydroxide enhances the efficacy of rapamycin to suppress proliferation of Tsc2-null mouse embryonic fibroblasts [PDF]

Jichu yixue yu linchuang, 2021
Objective To explore the effect of sodium hydroxide(NaOH) and rapamycin(Rapa) alone or their combination in treating Tsc2-null(Tsc2-/-) mouse embryonic fibroblasts.
LI Kai, WANG Ya-nan
doaj  

Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR. [PDF]

PLoS ONE, 2010
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited renal disorder caused by defects in the PKD1 or PKD2 genes. ADPKD is associated with significant morbidity, and is a major underlying cause of end-stage renal failure (ESRF ...
Ruhee Dere, Patricia D Wilson, Richard N Sandford, Cheryl Lyn Walker   +3 more
doaj   +1 more source

Tsc2 disruption in mesenchymal progenitors results in tumors with vascular anomalies overexpressing Lgals3

eLife, 2017
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud ...
Peter J Klover, Rajesh L Thangapazham, Jiro Kato, Ji-an Wang, Stasia A Anderson, Victoria Hoffmann, Wendy K Steagall, Shaowei Li, Elizabeth McCart, Neera Nathan, Joshua D Bernstock, Matthew D Wilkerson, Clifton L Dalgard, Joel Moss, Thomas N Darling   +14 more
doaj   +1 more source

Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation

Molecular Autism, 2020
Background Tuberous sclerosis complex (TSC) is a rare genetic multisystemic disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes.
Mouhamed Alsaqati, V. Heine, A. Harwood
semanticscholar   +1 more source

Hypoxia-inducible factor-1α polymorphisms and TSC1/2 mutations are complementary in head and neck cancers

Molecular Cancer, 2006
Background Polymorphisms or mutations in hypoxia inducible factor-1 alpha (HIF-1alpha) that increases its activity and stability under normoxia have recently been identified.
Nikitakis Nikolaos G, Ord Robert A, Parashar Pallavi, Norris Kathleen, Hebert Carla, Sauk John J   +5 more
doaj   +1 more source