Results 1 to 10 of about 37,863 (256)

Deletion of Tsc2 in nociceptors reduces target innervation, ion channel expression, and sensitivity to heat [PDF]

, 2018
The mechanistic target of rapamycin complex 1 (mTORC1) is known to regulate cellular growth pathways, and its genetic activation is sufficient to enhance regenerative axon growth following injury to the central or peripheral nervous systems.
Carlin, Dan, Cavalli, Valeria, Gereau, Robert W, Golden, Judith P, Mogha, Amit, Monk, Kelly R, Samineni, Vijay K   +6 more
core   +2 more sources

Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations

Erciyes Medical Journal, 2020
Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and
Esra Işık, Hüseyin Onay, Tahir Atık, Aslı Ece Solmaz, Demet Terek, Sarenur Gökben, Hasan Tekgül, Ertürk Levent, Mehmet Kantar, Nilgün Kültürsay, Özgür Çoğulu, Ferda Özkınay   +11 more
doaj   +1 more source

Behavioral phenotyping identifies autism-like repetitive stereotypies in a Tsc2 haploinsufficient rat model. [PDF]

Behav Brain Funct
Ramme A, Zachow M, Habelt B, Vojtechova I, Petrasek T, Waltereit R, Bernhardt N.   +6 more
europepmc   +3 more sources

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/ mTOR axis in metastatic pheochromocytoma/ paraganglioma [PDF]

, 2019
Artículo escrito por un elevado número de autores, solo se referencian el que aparece en primer lugar y los autores pertenecientes a la UAMPheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that present variable outcomes.
Alvarez - Escola, Cristina, Calsina, Bruna   +1 more
core   +2 more sources

Molecular brakes regulating mTORC1 activation in skeletal muscle following synergist ablation [PDF]

, 2014
The goal of the current work was to profile positive (mTORC1 activation, autocrine/paracrine growth factors) and negative [AMPK, unfolded protein response (UPR)] pathways that might regulate overload-induced mTORC1 (mTOR complex 1) activation with the ...
Amy Patton, Andrew Philp, D. Lee Hamilton, Florini JR, Frey JW, Hamilton DL, Iain J. Gallagher, Keith Baar, Matthew G. MacKenzie, Mhairi C. Towler, R Foundation for Statistical Computing, Sue C. Bodine, Zick Y   +12 more
core   +5 more sources

Tuberous sclerosis complex: Clinical spectrum and epilepsy: A retrospective chart review study

Translational Neuroscience, 2018
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population.
Almobarak Sulaiman, Almuhaizea Mohammad, Abukhaled Musaad, Alyamani Suad, Dabbagh Omar, Chedrawi Aziza, Khan Sameena, Aldhalaan Hesham   +7 more
doaj   +1 more source

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Biomedical Papers, 2017
Background: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC.
Marek Godava, Hana Filipova, Lubomir Dubrava, Radek Vrtel, Kamila Michalkova, Maria Janikova, Lenka Bakaj-Zbrozkova, Jiri Navratil   +7 more
doaj   +1 more source

Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM)

Cell Death and Disease, 2022
Lymphangioleiomyomatosis (LAM), a progressive pulmonary disease exclusively affecting females, is caused by defects or mutations in the coding gene tuberous sclerosis complex 1 (TSC1) or TSC2, causing the mammalian target of rapamycin complex 1 (mTORC1 ...
Fei Li, Yifan Zhang, Zhoujun Lin, Lizhong Yan, Qiao Liu, Yin Li, Xiaolin Pei, Ya Feng, Xiao Han, Juan Yang, Fangxu Zheng, Tianjiao Li, Yupeng Zhang, Zhenkun Fu, Di Shao, Jane Yu, Chenggang Li   +16 more
doaj   +1 more source

MTOR cross-talk in cancer and potential for combination therapy [PDF]

, 2018
The mammalian Target of Rapamycin (mTOR) pathway plays an essential role in sensing and integrating a variety of exogenous cues to regulate cellular growth and metabolism, in both physiological and pathological conditions.
Bazzichetto, C., Bria, E., Ciuffreda, L., Cognetti, F., Conciatori, F., Falcone, I., Milella, M, Pilotto, S.   +7 more
core   +3 more sources

Loss of Tuberous Sclerosis Complex 2 (TSC2) as a Predictive Biomarker of Response to mTOR Inhibitor Treatment in Patients with Hepatocellular Carcinoma

Translational Oncology, 2016
BACKGROUND: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related death globally. Mechanistic target of rapamycin (mTOR) is frequently up-regulated in HCC and plays an important role in HCC tumorigenesis.
Jinhyun Cho, Jeeyun Lee, Jusun Kim, Seung Tae Kim, Sujin Lee, Sun Young Kim, Sang Yun Ha, Cheol-Keun Park, Ho Yeong Lim   +8 more
doaj   +1 more source