Results 271 to 280 of about 33,741 (291)

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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Tsc1 controls the development and function of alveolar macrophages

Biochemical and Biophysical Research Communications, 2018
Alveolar macrophages (AMs) are pivotal for maintaining the lung homeostasis, but how the development and function of AMs regulated remains largely unknown. In the present study, we demonstrated that the number of AMs was controlled by the Tsc1 protein. Cd11c-specific deletion of Tsc1 caused inefficient transition from pre-AMs to AMs in lung, which led ...
Mingxia Shi, Xiaoming Feng, Jingru Liu, Qiongmei Yang, Song Chen, Huifang Huang   +5 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.
openaire   +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 ...
Theo M. Luider, Dicky J. J. Halley, Mark Nellist, Peter C. Burgers, Ans M.W. van den Ouweland   +4 more
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TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios

European Journal of Pediatrics, 2002
Tuberous sclerosis (TSC) is a multisystem disease with manifestations in the central nervous system, skin, kidneys, heart, and other visceral organs. The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2).
Langkau, Nicola, Martin, Nicola, Brandt, Regine, Zügge, Karin Louise, Quast, Stefanie, Wiegele, Gerd, Jauch, Anna, Rehm, Marion, Kuhl, Andrea, Mack-Vetter, Monika, Zimmerhackl, Lothar Bernd, Janssen, Bart   +11 more
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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.
Ayumi Takamura, Kousaku Ohno, Katsumi Higaki, Florin Floricel, Eiji Nanba, Hirotoshi Maki, Kokoro Tsuzaki, Haruaki Ninomiya, Yasuo Asano, Sakiko Yasui   +9 more
openaire   +3 more sources

Combined TSC1 and LMX1B mutations in a single patient

Clinical Dysmorphology, 2014
Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes.
Zuhair N. Al-Hassnan, Ola Khalifa, Khalid Al-Mane, Ameera Balobaid, Nadia Al-Sakati   +4 more
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“Renal Cell Carcinoma With Leiomyomatous Stroma” Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity

American Journal of Surgical Pathology, 2019
Renal cell carcinoma with (angio) leiomyomatous stroma (RCCLMS) is included as a provisional entity in the 2016 World Health Organization (WHO) classification of renal epithelial neoplasia; however, debate remains whether it represents a distinct entity ...
R. Shah, B. Stohr, Z. Tu, Yuan Gao, C. Przybycin, Jane K. Nguyen, Roni M. Cox, F. Rashid-Kolvear, M. Weindel, D. H. Farkas, K. Trpkov, J. McKenney   +11 more
semanticscholar   +1 more source

The TSC1–TSC2 Complex

2010
Publisher Summary The complexity and breadth of the signaling network upstream of the TSC1 (hamartin)–TSC2 (tuberin) complex is a testament to the importance of proper regulation of mTORC1 in the tight control over cellular growth and proliferation.
Brendan D. Manning, Christian C. Dibble
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Mutational analysis of TSC1 and TSC2 genes in gangliogliomas

Neuropathology and Applied Neurobiology, 2001
Gangliogliomas constitute the most frequent tumour entity in patients with temporal lobe epilepsy. The characteristic histopathological admixture of glial and neuronal elements, the focal nature and their differentiated phenotype and benign biological behaviour suggest an origin from a developmentally compromised or dysplastic precursor lesion.
A. von Deimling, A. von Deimling, Johannes Schramm, Albert J. Becker, H.E. Klein, Christian E. Elger, Sabine Normann, Otmar D. Wiestler, Ingmar Blümcke, M. Löbach, Markus M. Nöthen, Masashi Mizuguchi   +11 more
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