Results 101 to 110 of about 20,458 (226)

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 145-149, June 2026.
ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley   +1 more source

Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice

, 2006
Tuberous sclerosis complex (TSC) is caused by mutations in either the TSC1 or TSC2 gene. Both genes are generally considered to act as tumor suppressors that fulfill Knudson’s ‘‘two-hit hypothesis’’ and that function within the ...
Cheadle, Jeremy Peter, Idziaszczyk, Shelley Alexis, Colley, James, Sampson, Julian Roy, Maynard, Julie Helen, Wilson, Catherine Helen, Humphreys, Vikki, Guy, Carol, Bonnet, Cleo   +8 more
core   +1 more source

Roles of long non‐coding RNAs in gestational diabetes mellitus: Mechanisms and biomarker potential

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
Upregulated lncRNAs in GDM Some key lncRNAs (MALAT1, MEG8, SOX2OT and …) show higher expression in GDM. Downregulated lncRNAs in GDM Some key lncRNAs (HCG27, GASS, Pax AS1 and …) show lower expression in GDM. Mechanistic roles lncRNAs regulate trophoblast proliferation, insulin signalling, neonatal and offspring health and other complications related ...
Reza Kouchaki, Fateme Karimi Dermani, Ishwaree Datta, Sahar Moghbelinejad, Nematollah Gheibi, Farideh Movahed, Fatemeh Samieerad, Saeideh Gholamzadeh Khoei, Hamid Sadeghi   +8 more
wiley   +1 more source

Rapamycin increases steatosis in Tsc1-/- and Tsc1-/-;Pten-/- livers.

, 2015
A) H&E photomicrographs of representative livers treated with vehicle (DMSO) or rapamycin. Magnification: 400x except for Tsc1-/-;Pten-/- samples showing both 40x and 400x. B) Western blot analyses of liver lysates from two sets of treated mice.
Heidi L. Kenerson (354075), Rebecca McIntyre (688872), Machiko Kazami (688873), Savitha Subramanian (429236), Raymond S. Yeung (354078)   +4 more
core   +1 more source

Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models

Disease Models & Mechanisms, 2013
SUMMARY Tuberous sclerosis complex (TSC) is a dominantly inherited disease with high penetrance and morbidity, and is caused by mutations in either of two genes, TSC1 or TSC2. Most affected individuals display severe neurological manifestations – such as
Laura Magri, Manuela Cominelli, Marco Cambiaghi, Marco Cursi, Letizia Leocani, Fabio Minicucci, Pietro Luigi Poliani, Rossella Galli   +7 more
doaj   +1 more source

Effects of TSC1 and TSC2 on actin cytoskeleton.

, 2014
A: F-actin staining of serum-deprived NIH 3T3 fibroblasts and matched Tsc1+/+, Tsc1−/− and Tsc2+/+, and Tsc2−/− MEFs. B: F-actin staining (red) of Tsc1−/− and Tsc2−/− MEFs transfected with either GFP-TSC1, GFP-TSC2, or GFP.
Melane L. James (652653), Dmitry A. Goncharov (652655), Vera P. Krymskaya (188111), Tatiana V. Kudryashova (652654), Elena A. Goncharova (300148)   +4 more
core   +1 more source

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

, 2017
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII ...
김동석, 김세훈, 김형범, 이준수, 김상우, 김흥동, 강훈철   +6 more
core   +2 more sources

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, Volume 67, Issue 6, Page 3048-3057, June 2026.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Chronic sleep deprivation promotes drug‐resistant epilepsy via the BMAL1‐mTOR‐P‐gp axis

Epilepsia Open, Volume 11, Issue 3, Page 1017-1027, June 2026.
Abstract Objective The interplay between chronic sleep deprivation and drug‐resistant epilepsy (DRE) has gained increasing attention. Brain and muscle Arnt‐like protein 1 (BMAL1), which is implicated in sleep disturbance, has an unclear role in DRE. We aimed to investigate the role of BMAL1 in sleep deprivation‐induced DRE. Methods A pentylenetetrazole
Xiaomeng Wang, Rui Li, Yuzhu Zhang, Yi Hu, Jingjiao Chen, Sijia Tian, Dong Zhou, Xiaosa Chi   +7 more
wiley   +1 more source

Electroacupuncture Ameliorates Premature Ovarian Insufficiency by Inhibiting METTL3‐Mediated m6A Methylation of Beclin 1 mRNA in Granulosa Cells

Food Science &Nutrition, Volume 14, Issue 6, June 2026.
A high‐fat, high‐sugar (HFHS) diet induces premature ovarian insufficiency (POI), characterized by reduced follicular reserve, increased atresia, fibrosis, and excessive granulosa cell autophagy. Electroacupuncture (EA) at CV4, ST36, and SP6 suppresses METTL3 expression and reduces m6A methylation of Beclin1 mRNA, thereby limiting Beclin1 translation ...
Lele Ling, Sining He, Xue Zhao, Yaran Sheng, Mengying Hong, Long Yuan, Peng Liu, Boliang Ke, Bingrong Li, Bimeng Zhang   +9 more
wiley   +1 more source