Results 71 to 80 of about 37,863 (256)

A Foundation Theory of Quantum Mechanics [PDF]

, 2006
The nRules are empirical regularities that were discovered in macroscopic situations where the outcome is known. When they are projected theoretically into the microscopic domain they predict a novel ontology including the frequent collapse of an atomic ...
Mould, Richard A
core   +2 more sources

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 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

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

Overexpression of Na+/Mg2+ exchanger SLC41A1 attenuates pro-survival signaling [PDF]

, 2017
The Na+/Mg2+ exchanger SLC41A1 (A1), a key component of intracellular Mg homeostasis (IMH), is the major cellular Mg2+ efflux system, and its overexpression decreases [Mg2+]intracellular.
Abdulhanan, Nasrin, Aschenbach, Jörg R., Cibulka, Michal, Fröhlich, Nadine, Kolisek, Martin, Mastrototaro, Lucia, Pilchova, Ivana, Racay, Peter, Röntgen, Monika, Sponder, Gerhard   +9 more
core   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 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

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

Proposal for an Optical Test of the Einstein Equivalence Principle

, 2019
The Einstein Equivalence Principle (EEP) underpins all metric theories of gravity. Its key element is the local position invariance of non-gravitational experiments, which entails the gravitational red-shift.
Magnani, Piergiovanni, Schiavon, Matteo, Smith, Alexander R. H., Terno, Daniel R., Vallone, Giuseppe, Vedovato, Francesco, Villoresi, Paolo   +6 more
core   +1 more source

A TSC signaling node at the peroxisome regulates mTORC1 and autophagy in response to ROS [PDF]

, 2014
Subcellular localization is emerging as an important mechanism for mTORC1 regulation. We report that the tuberous sclerosis complex (TSC) signaling node, TSC1, TSC2 and Rheb, localizes to peroxisomes, where it regulates mTORC1 in response to reactive ...
Alexander, Angela, Cai, Shengli, Dere, Ruhee, Di Nardo, Alessia, Dodd, Kayleigh M., Dunlop, Elaine A., Faust, Phyllis L., Folkerth, Rebecca D., Han, Juliette M., Kastan, Michael B., Kim, Jinhee, Kwiatkowski, Erica, Sahin, Mustafa, Tait-Mulder, Jacqueline, Tee, Andrew R., Tripathi, Durga Nand, Walker, Cheryl Lyn, Zhang, Jiangwei   +17 more
core   +1 more source