Results 201 to 210 of about 18,157 (223)

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex. [PDF]

Hum Mutat
You Q, Liu J, Zhang R, Wang Z, Zhang B, Guo W, Xu N, Bottillo I, Shao L.   +8 more
europepmc   +1 more source

Amino acid-dependent TSC2 dephosphorylation by lysosome-PP2A regulates mTORC1 signaling transduction. [PDF]

Life Sci Alliance
Nakamura T, Nada S, Matsumoto M, Loling Othman N, Kosako H, Ikeda K, Koshikawa N, Masumoto J, Sawasaki T, Takekawa M, Suzuki T, Okada M.   +11 more
europepmc   +1 more source

Parkinson's disease, herpes simplex virus type 1, and nanopore sequencing: A case analysis. [PDF]

Biochem Biophys Rep
Wang Z, Wang H, Su X, Mao J, Zhou S, Zhang Y, Ying X, Wei C, Duan S.   +8 more
europepmc   +1 more source

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Role of TSC1 in physiology and diseases

Molecular and Cellular Biochemistry, 2021
Since its initial discovery as the gene altered in Tuberous Sclerosis Complex (TSC), an autosomal dominant disorder, the interest in TSC1 (Tuberous Sclerosis Complex 1) has steadily risen. TSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and ...
Karthik Mallela, Arun Kumar
openaire   +2 more sources

Evolution of the TSC1/TSC2-TOR Signaling Pathway

Science Signaling, 2010
The TSC1/TSC2-TOR signaling pathway evolved from a primitive signaling pathway linking adenosine monophosphate abundance to cell growth.
Jaco, Serfontein, R Ellen R, Nisbet, Christopher J, Howe, Petrus J, de Vries   +3 more
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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 ...
Meng Ma, Jie Dai, Tianxiao Xu, Sifan Yu, Huan Yu, Huan Tang, Junya Yan, Xiaowen Wu, Jiayi Yu, Zhihong Chi, Lu Si, Chuanliang Cui, Xinan Sheng, Yan Kong, Jun Guo   +14 more
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Tackling Tsc1 to Promote Nephrogenesis

New England Journal of Medicine, 2018
Hamartin and Kidney Development A pivotal event in kidney development is the formation of nephrons, the number of which is inversely proportional to the risk of kidney disease.
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The TSC1 gene product hamartin interacts with NADE

Molecular and Cellular Neuroscience, 2007
Hamartomatous brain lesions are a hallmark of brain pathology of tuberous sclerosis complex (TSC). To elucidate the mechanism of tumor development in the brain of TSC, we identified NADE (p75NTR-associated cell death executor) as an interactor for TSC1 gene product hamartin using a yeast two-hybrid system.
Sakiko, Yasui, Kokoro, Tsuzaki, Haruaki, Ninomiya, Florin, Floricel, Yasuo, Asano, Hirotoshi, Maki, Ayumi, Takamura, Eiji, Nanba, Katsumi, Higaki, Kousaku, Ohno   +9 more
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