Results 181 to 190 of about 20,458 (226)

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +1 more source

AAV-Based Bright and Sparse Labeling of Versatile Neurons Adaptable in Cre-Dependent Genetic Backgrounds. [PDF]

eNeuro
Kamijo S, Ikeda K, Miwa H.
europepmc   +1 more source

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family. [PDF]

Mol Genet Genomic Med
Tuller E, Samuels JA, Northrup H, Richardson K.   +3 more
europepmc   +1 more source

Regulatory role of mTORC1 signaling in osteoblasts in acute myeloid leukemia progression and steady-state hematopoiesis. [PDF]

iScience
Fukasawa K, Tokumura K, Yoshimoto M, Sadamori K, Mosialou I, Harakawa Y, Isawa K, Tsuji S, Inufusa H, Hirao A, Kousteni S, Hinoi E.   +11 more
europepmc   +1 more source

Targeting chaperone-mediated autophagy inhibits properties of glioblastoma stem cells and restores anti-tumor immunity. [PDF]

Nat Commun
Li Y, Sheng M, Li W, Liu S, Wang B, Liu B, Luo M, Zhou X, Xia Q, Hong S, Zheng Z, Cheng SY, Jiang X, Li J, Huang T.   +14 more
europepmc   +1 more source

Identification and analysis of mutations in the TSC1 gene

openaire   +1 more source

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Analysis of TSC1 mutation spectrum in mucosal melanoma

Journal of Cancer Research and Clinical Oncology, 2017
Mucosal melanoma is a relatively rare subtype of melanoma for which no clearly established therapeutic strategy exists. The genes of the mTOR signalling pathway have drawn great attention as key targets for cancer treatment, including melanoma. In this study, we aimed to investigate the mutation status of the upstream mTOR regulator TSC1 and evaluated ...
Jie Dai, Tianxiao Xu, Huan Tang
exaly   +3 more sources

Phosphorylation and binding partner analysis of the TSC1–TSC2 complex

Biochemical and Biophysical Research Communications, 2005
Tuberous sclerosis complex (TSC) is an autosomal dominant benign tumour syndrome caused by mutations to either the TSC1 or TSC2 tumour suppressor gene. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that integrates inputs from multiple signalling cascades to inactivate the small GTPase rheb, and thereby inhibit mTOR-dependent ...
Mark Nellist, Peter C Burgers, Ans M W Van Den Ouweland   +2 more
exaly   +4 more sources