Results 51 to 60 of about 20,510 (176)

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

Annals of the Child Neurology Society, EarlyView.
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

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

Hypomyelination following deletion of Tsc2 in oligodendrocyte precursors [PDF]

Annals of Clinical and Translational Neurology, 2015
AbstractObjectiveWhile abnormalities in myelin in tuberous sclerosis complex (TSC) have been known for some time, recent imaging‐based data suggest myelin abnormalities may be independent of the pathognomonic cortical lesions (“tubers”). Multiple mouse models of TSC exhibit myelination deficits, though the cell types responsible and the mechanisms ...
Carson, Robert P., Kelm, Nathaniel D., West, Kathryn L., Does, Mark D., Fu, Cary, Weaver, Grace, McBrier, Eleanor, Parker, Brittany, Grier, Mark D., Ess, Kevin C.   +9 more
openaire   +2 more sources

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

Epilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing, Lirong Han, Dongjun Guo, Thomas J. Foutz, Michael Wong   +4 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy. [PDF]

PLoS ONE, 2016
Mammalian target of rapamycin complex 1 (mTORC1) is a key regulator of cell growth, proliferation and metabolism. mTORC1 regulates protein synthesis positively and autophagy negatively. Autophagy is a major system to manage bulk degradation and recycling
Manabu Taneike, Kazuhiko Nishida, Shigemiki Omiya, Elham Zarrinpashneh, Tomofumi Misaka, Rika Kitazume-Taneike, Ruth Austin, Minoru Takaoka, Osamu Yamaguchi, Michael J Gambello, Ajay M Shah, Kinya Otsu   +11 more
doaj   +1 more source

TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β [PDF]

Human Molecular Genetics, 2018
Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway.
Barbara, Ogórek, Hilaire C, Lam, Damir, Khabibullin, Heng-Jia, Liu, Julie, Nijmeh, Robinson, Triboulet, David J, Kwiatkowski, Richard I, Gregory, Elizabeth P, Henske   +8 more
openaire   +2 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing

Stem Cell Research
Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we ...
Siyao Zhang, Jiaqi Fan, Hairui Sun, Xiaoyan Hao, Yihua He   +4 more
doaj   +1 more source

TSC2 Mutations Were Associated with the Early Recurrence of Patients with HCC Underwent Hepatectomy

Pharmacogenomics and Personalized Medicine, 2021
Kangjian Song, Fu He, Yang Xin, Ge Guan, Junyu Huo, Qingwei Zhu, Ning Fan, Yuan Guo, Yunjin Zang, Liqun Wu Liver Disease Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ChinaCorrespondence: Liqun WuLiver
Song K, He F, Xin Y, Guan G, Huo J, Zhu Q, Fan N, Guo Y, Zang Y, Wu L   +9 more
doaj