Results 101 to 110 of about 18,866 (220)

Biallelic TSC gene inactivation in tuberous sclerosis complex

, 2010
A pivotal developmental question is whether tubers in tuberous sclerosis complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations. Loss of TSC1 or TSC2 in vitro and in vivo leads to mTORC1 cascade activation and ribosomal protein S6 ...
G. Baltuch, Aronica, Eleonora, E. Aronica, K. L. Nathanson, Crino, Peter B., Nathanson, Katherine L., P. B. Crino, Baltuch, Gordon   +7 more
core   +1 more source

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies

Molecular Genetics & Genomic Medicine, 2019
Background The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis.
Xiaomin Sun, Xuefei Zhong, Tingsong Li
doaj   +1 more source

Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients

Molecular Cancer, 2009
Background The tuberous sclerosis complex (TSC) is caused by defects in one of two tumor suppressor genes, TSC-1 or TSC-2. TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas.
Habib Samy L
doaj   +1 more source

Hypoxia and hypercapnia elicit overlapping but distinct skeletal muscle toxicities

The Journal of Physiology, EarlyView.
Abstract figure legend Hypoxia and hypercapnia cause overlapping skeletal muscle phenotypes, including atrophy, change in myofibre metabolic profile and myogenic response to injury. Both signals operate via distinct cellular pathways. Abstract Skeletal muscle dysfunction is strongly associated with elevated mortality in acute and chronic pulmonary ...
Joseph Balnis, Ariel Jaitovich
wiley   +1 more source

Expression of the anti-apoptotic protein survivin amd altered function of IGF-1 pathway in TSC2 brain tubers

, 2007
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by multiorgan development of benign and occasional malignant tumors. The neurological manifestations include epilepsy, developmental delay, mental retardation, and autism ...
V. Grande, M.P. Canevini, L. Madaschi, E. Isaia, E. Lesma, L. Tassi, A.M. Di Giulio, A. Gorio   +7 more
core  

Clinicopathological characteristics of cortical tubers in tuberous scle

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate the clinicopathological and molecular genetic features of cortical tubers in tuberous sclerosis complex (TSC). Methods and Results Two girls, one was 33 months old and the other was 15 years old, presented paroxysmal strabismus ...
Hai-nan LI, Jing WU, Yao-hong ZENG, Jie-ming ZHOU, Guang-yu JIANG, Hui-xia HAN   +5 more
doaj   +1 more source

NSAID ingestion augments training‐induced muscle hypertrophy and differentially affects muscle mRNA expression, but not strength gains, in trained men

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic outlining the impact of NSAID ingestion on resistance exercise training‐induced changes in muscle morphology, function and gene networks relative to placebo ingestion in trained males. Abstract Non‐steroidal anti‐inflammatory drugs (NSAIDs) are widely overused in sports.
Joanne E. Mallinson, Tariq Taylor, Dumitru Constantin‐Teodosiu, Despina Constantin, Martino V. Franchi, Dorothee Auer, Paul L. Greenhaff   +6 more
wiley   +1 more source

Expressions of phosphorylated mammalian target of rapamycin effectors in fibrous papule, tuberous sclerosis complex-associated angiofibroma, and normal skin.

, 2014
Abbreviations: FP: fibrous papule, TSC: tuberous sclerosis complex, AF: angiofibroma, NS: normal skin, p-mTOR: phosphorylated mammalian target of rapamycin, p-p70S6K: phosphorylated p70 ribosomal protein S6 kinase; p-S6: phosphorylated ribosomal protein ...
Kuo-Hsien Wang (523899), Wei-Yu Chen (316810), Chia-Lang Fang (293212), Jung-Yi Lisa Chan (523898)   +3 more
core   +1 more source

ASPSCR1: TFE3 Fusion‐Positive Epithelioid Angiomyolipoma/PEComa Lacking Melanocytic Markers: A Case Report

IJU Case Reports, Volume 9, Issue 4, July 2026.
ABSTRACT Introduction Epithelioid angiomyolipoma is a rare perivascular epithelioid cell tumor subtype with malignant potential. Its morphology mimics renal cell carcinoma, posing diagnostic challenges. Half of these cases harbor TSC1/TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations.
Yuka Kondo, Yoji Nagashima, Kenji Zennami, Megumi Sato, Sayaka Sumiyoshi, Akihiko Sugimoto, Madoka Isomura, Kiyoshi Takahara, Sachiko Minamiguchi   +8 more
wiley   +1 more source

Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir−bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death [PDF]

, 2018
Cancer cells lose homeostatic flexibility because of mutations and dysregulated signaling pathways involved in maintaining homeostasis. Tuberous Sclerosis Complex 1 (TSC1) and TSC2 play a fundamental role in cell homeostasis, where signal transduction ...
Geraint J. Parfitt, Ashley T. Jones, Rachel J. Errington, Henry D. McCann, Parfitt, Geraint J., Tee, Andrew R., Ming H. Shen, Charlotte E. Johnson, Trevor Hay, Shen, Ming H., Sampson, Julian R., Hay, Trevor, Giles, Peter J., D. Mark Davies, Errington, Rachel J., Sara Seifan, Johnson, Charlotte E., Jones, Ashley T., Davies, D. Mark, McCann, Henry D., Peter J. Giles, Elaine A. Dunlop, Seifan, Sara, Julian R. Sampson, Dunlop, Elaine A., Andrew R. Tee   +25 more
core   +1 more source