Results 211 to 220 of about 33,741 (291)

Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia. [PDF]

Epigenomes
Hadjigavriel G, Stylianides C, Axarloglou E, Manthou ME, Vakirlis E, Theotokis P, Meditskou S, Dermitzakis I.   +7 more
europepmc   +1 more source

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia [PDF]

, 2017
Nicholas Olney, Carolina Alquézar, Eliana Marisa Ramos, Alissa L. Nana, Jamie Fong, Anna M. Karydas, Joanne Taylor, Melanie Stephens, Andrea R. Argouarch, Victoria A. Van Berlo, Deepika Dokuru, Elliott H. Sherr, Gregory A. Jicha, William P. Dillon, Rahul S. Desikan, Mary De May, William W. Seeley, Giovanni Coppola, Bruce L. Miller, Aimee W. Kao   +19 more
openalex   +1 more source

Identification of the TSC1 (tuberous sclerosis) gene

Biomedicine & Pharmacotherapy, 1998
openaire   +2 more sources

miRNAs in secondary hyperparathyroidism: literature review. [PDF]

BMC Nephrol
Lu Z, Zhang K, Huang J, Zhang S.
europepmc   +1 more source

mTOR signaling in skeletal development and disease [PDF]

, 2018
Chen, Jianquan, Long, Fanxin
core   +1 more source

Vascular Growth in the Fetal Lung [PDF]

, 2011
Land, Stephen
core   +3 more sources

Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation [PDF]

, 2017
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe   +6 more
openalex   +1 more source

Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma

Clinical Cancer Research, 2016
D. Kwiatkowski, T. Choueiri, A. Fay, A. Fay, B. Rini, A. Thorner, G. Velasco, M. Tyburczy, L. Hamieh, L. Albiges, N. Agarwal, T. Ho, Jiaxi Song, Jean-Christophe Pignon, P. Barrios, M. Michaelson, E. Allen, K. Krajewski, C. Porta, S. Pal, J. Bellmunt, D. McDermott, D. Heng, K. Gray, S. Signoretti   +24 more
semanticscholar   +1 more source

Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC. [PDF]

BMC Pediatr
Wang A, Wang C, Li W, Qiao J, Luo Y, Tian Y.   +5 more
europepmc   +1 more source

TSC1 regulates osteoclast podosome organization and bone resorption through mTORC1 and Rac1/Cdc42 [PDF]

, 2018
Song Xu, Yue Zhang, Jian Wang, Kai Li, Kang Tan, Kangyan Liang, Junhui Shen, Daozhang Cai, Dadi Jin, Mangmang Li, Guozhi Xiao, Jiake Xu, Yu Jiang, Xiaochun Bai   +13 more
openalex   +1 more source