Results 41 to 50 of about 25,325 (232)
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 +7 more
doaj +1 more source
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 +5 more
doaj +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
Microglial ASD-related genes are involved in oligodendrocyte differentiation
Scientific Reports, 2021 Autism spectrum disorders (ASD) are associated with mutations of chromodomain-helicase DNA-binding protein 8 (Chd8) and tuberous sclerosis complex 2 (Tsc2).
Yuta Takanezawa +7 more
doaj +1 more source
Advanced Science, EarlyView.A multifunctional EV‐based nanoplatform (Ang‐TEVs@Gel) was engineered via preconditioning, surface targeting, and ROS‐responsive hydrogel encapsulation to reprogram microglia. This system restored autophagy via miR‐664a‐3p/PIK3CA axis, cleared myelin debris, resolved neuroinflammation, and promoted axon remyelination, ultimately achieving robust motor ...
Wu Xiong +17 more
wiley +1 more source
Molecular heterogeneity of TSC2-deficient cells
, 2012 TSC is an autosomal-dominant genetic disorder resulting from the dysregulation of PI3K/Akt/mammalian target of rapamycin pathway. From specimens of three TSC2 patients we have isolated three populations of α-actin smooth muscle (ASM) cells.
S. Ancona +4 more
core +2 more sources
Cell Reports, 2022 Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon +3 more
doaj +1 more source
Pifithrin-μ inhibits the proliferation of TSC2 mutant hepatocellular carcinoma cells [PDF]
Jichu yixue yu linchuangObjective To investigate the effects of Pifithrin-μ on the proliferation of TSC2 mutant hepatocellular carcinoma cells. Methods The effect of Pifithrin-μ on cell proliferation was evaluated using CCK8 assay in multiple lines of Tsc2 mutant mouse ...
FAN Wenyi, CHEN Yuwei, ZHENG Cuiting, LYU Jiarui, WANG Yanan
doaj +1 more source
Drug Repurposing for Treating NCOR‐Related Intellectual Disability
Advanced Science, EarlyView.An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong +15 more
wiley +1 more source
Scientific Reports, 2018 Tuberous Sclerosis Complex (TSC), a rare genetic disorder with mechanistic target of rapamycin complex 1 (mTORC1) hyperactivation, is characterized by multi-organ hamartomatous benign tumors including brain, skin, kidney, and lung ...
Harilaos Filippakis +8 more
doaj +1 more source