Results 31 to 40 of about 25,325 (232)

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

Exome sequencing of Saudi Arabian patients with ADPKD

Renal Failure, 2019
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP)
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali   +19 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

Rapamycin regulates Transglutaminase 2 in Tsc2−/− MEFs.

, 2016
(A) Hypothetical Venn diagram of the two major changes in gene expression observed in this study. Rapamycin-regulated transcripts were classified as those that met all four criteria at a statistical cut-off *p 2) of the 39,000 probed genes comparing ...
Wenlong Huang (692950), Jingwen Cao (1806958)   +1 more
core   +2 more sources

Tsc2 disruption in mesenchymal progenitors results in tumors with vascular anomalies overexpressing Lgals3

eLife, 2017
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud ...
Peter J Klover, Rajesh L Thangapazham, Jiro Kato, Ji-an Wang, Stasia A Anderson, Victoria Hoffmann, Wendy K Steagall, Shaowei Li, Elizabeth McCart, Neera Nathan, Joshua D Bernstock, Matthew D Wilkerson, Clifton L Dalgard, Joel Moss, Thomas N Darling   +14 more
doaj   +1 more source

A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation

罕见病研究
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations.
ZHANG Hongli, DAI Jiayuan, WANG Yan, ZHANG Weihong, MA Wenbin, FU Hanhui, HE Chunxia, ZHENG Jun, WANG Wenda, ZUO Wei, LIU Yaping, SHEN Min   +11 more
doaj   +1 more source

TSC2-CycB1 interaction is serum and Akt phosphorylation dependent.

, 2019
(A) HEK293 cells were transfected with Flag-TSC2 and CycB1-5xA. 18 hrs post-transfection, cells were washed with PBS and incubated for 2 hrs with different concentrations of serum (indicated as % serum).
Miranda A. Hanna (6194816), Sabrina Botsford (6194810), Lisa A. Porter (1379217), Elizabeth Fidalgo da Silva (6194807), Jessica Dare-Shih (6194813)   +4 more
core   +1 more source

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 activation with the hypothesis that a ...
Hamilton, D. Lee, Gallagher, Iain J, Philp, A., Baar, Keith, Towler, Mhairi C., Bodine, S. C., Gallagher, Iain J., Philp, Andrew, Towler, M. C., Baar, K., Towler, Mhairi C, Mackenzie, M. G., Gallagher, I. J., Patton, Amy, Hamilton, David Lee, Patton, A., MacKenzie, Matthew G., Lee Hamilton, D., Bodine, Sue C, Bodine, Sue C., MacKenzie, Matthew G   +20 more
core   +1 more source

Regulation of TSC2 by 14-3-3 Binding [PDF]

Journal of Biological Chemistry, 2002
Mutation in either the TSC1 or TSC2 tumor suppressor gene is responsible for the inherited genetic disease of tuberous sclerosis complex. TSC1 and TSC2 form a physical and functional complex to regulate cell growth. Recently, it has been demonstrated that TSC1.TSC2 functions to inhibit ribosomal S6 kinase and negatively regulate cell size.
Yong, Li, Ken, Inoki, Raymond, Yeung, Kun-Liang, Guan   +3 more
openaire   +2 more sources