Results 71 to 80 of about 31,418 (252)

Tsc1Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation inTsc1+/− Mice [PDF]

Cancer Research, 2006
AbstractTuberous 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 phosphoinositide 3-kinase-Akt-mammalian target of rapamycin (mTOR) pathway.
Catherine, Wilson, Cleo, Bonnet, Carol, Guy, Shelley, Idziaszczyk, James, Colley, Vikki, Humphreys, Julie, Maynard, Julian R, Sampson, Jeremy P, Cheadle   +8 more
openaire   +2 more sources

TSC1 Promotes B Cell Maturation but Is Dispensable for Germinal Center Formation. [PDF]

PLoS ONE, 2015
Accumulating evidence indicates that the tuberous sclerosis complex 1 (TSC1), a tumor suppressor that acts by inhibiting mTOR signaling, plays an important role in the immune system.
Xinxin Ci, Masayuki Kuraoka, Hongxia Wang, Zachary Carico, Kristen Hopper, Jinwook Shin, Xuming Deng, Yirong Qiu, Shyam Unniraman, Garnett Kelsoe, Xiao-Ping Zhong   +10 more
doaj   +1 more source

Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum [PDF]

, 2019
Cerebellar Purkinje cell (PC) loss is a consistent pathological finding in autism. However, neural mechanisms of PC-dysfunction in autism remain poorly characterized.
Chiu, Shu-Ling, Gil Infante, Ana, Huganir, Richard L, Mejías Estévez, Rebeca María, Rose, Rebecca, Wang, Tao, Zhao, Yifan   +6 more
core   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder. [PDF]

, 2017
Autism spectrum disorder (ASD) is a behaviorally defined disorder affecting 1 in 68 children. Currently, there is no known cause for the majority of ASD cases nor are there physiological diagnostic tools or biomarkers to aid behavioral diagnosis.
Ashwood, Paul, Onore, Charity, Van de Water, Judy, Yang, Houa   +3 more
core   +1 more source

Loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning [PDF]

, 2022
Katelyn N. Benthall, Katherine R Cording, Alexander H.C.W. Agopyan-Miu, Corinna D. Wong, Emily Y. Chen, Helen S. Bateup   +5 more
openalex   +1 more source

Loss of TSC1 in secondary angiosarcoma of the breast

Clinical Case Reports, 2023
Key Clinical MessagePost‐radiation angiosarcoma of the breast is a rare complication associated with a poor prognosis. This case reports the first loss of function mutation in TSC1 in breast radiation‐induced angiosarcoma and illustrates the utility of evaluating these markers to identify potential therapeutic targets.AbstractPost‐radiation ...
Lucy Rose, Nicci Owusu‐Brackett, Stephen Moore, Bridget Oppong   +3 more
openaire   +3 more sources

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, EarlyView.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source

Differential Expression of MicroRNA-19b Promotes Proliferation of Cancer Stem Cells by Regulating the TSC1/mTOR Signaling Pathway in Multiple Myeloma

Cellular Physiology and Biochemistry, 2018
Background/Aims: MiR-19b has been reported to be involved in several malignancies, but its role in multiple myeloma (MM) is still unknown. The objective of this study was to explore the biological mechanism of miR-19b in the progression of MM.
Ni Wang, Xiaohua Liang, Weijian Yu, Shihang Zhou, Meiyun  Fang   +4 more
doaj   +1 more source

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex

Human Genomics, 2023
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder.
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Ikeda   +8 more
doaj   +1 more source