All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
John D Short, Ruhee Dere, Kevin D Houston, Sheng-Li Cai, Jinhee Kim, Judith M Bergeron, Jianjun Shen, Jiyong Liang, Mark T Bedford, Gordon B Mills, Cheryl Lyn Walke. AMPK-mediated phosphorylation of murine p27 at T197 promotes binding of 14-3-3 proteins and increases p27 stability. Molecular carcinogenesis. vol 49. issue 5. 2010-06-04. PMID:20146253. the tuberous sclerosis complex 2 (tsc2) gene product, tuberin, acts as a negative regulator of mtor signaling, and loss of tuberin function leads to tumors of the brain, skin, kidney, heart, and lungs. 2010-06-04 2023-08-12 Not clear
Connie G Glasgow, Angelo Taveira-DaSilva, Gustavo Pacheco-Rodriguez, Wendy K Steagall, Katsuya Tsukada, Xiong Cai, Souheil El-Chemaly, Joel Mos. Involvement of lymphatics in lymphangioleiomyomatosis. Lymphatic research and biology. vol 7. issue 4. 2010-05-11. PMID:20143921. lam results from the proliferation of a neoplastic cell (lam cell), which has mutations in the tuberous sclerosis complex (tsc) genes, tsc1 or tsc2. 2010-05-11 2023-08-12 human
Bobby Bhatia, Zaher Nahlé, Anna Marie Kenne. Double trouble: when sonic hedgehog signaling meets TSC inactivation. Cell cycle (Georgetown, Tex.). vol 9. issue 3. 2010-05-04. PMID:20081363. igf activates the mammalian target of rapamycin (mtor), a growth-promoting kinase normally kept in check by the tumor suppressive tuberous sclerosis complex (tsc), comprised of tsc1 and tsc2. 2010-05-04 2023-08-12 mouse
Wei Qin, Piotr Kozlowski, Bruce E Taillon, Pascal Bouffard, Alison J Holmes, Pasi Janne, Susana Camposano, Elizabeth Thiele, David Franz, David J Kwiatkowsk. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Human genetics. vol 127. issue 5. 2010-04-28. PMID:20165957. tuberous sclerosis complex (tsc) is an autosomal dominant neurocutaneous syndrome caused by mutations in tsc1 and tsc2. 2010-04-28 2023-08-12 Not clear
M-C Liang, J Ma, L Chen, P Kozlowski, W Qin, D Li, J Goto, T Shimamura, D N Hayes, M Meyerson, D J Kwiatkowski, K-K Won. TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Oncogene. vol 29. issue 11. 2010-04-23. PMID:19966866. germline tsc1 or tsc2 mutations cause tuberous sclerosis complex (tsc), a hamartoma syndrome with lung involvement. 2010-04-23 2023-08-12 mouse
Sarah Knox, Hong Ge, Brian D Dimitroff, Yi Ren, Katie A Howe, Andrew M Arsham, Mathew C Easterday, Thomas P Neufeld, Michael B O'Connor, Scott B Sellec. Mechanisms of TSC-mediated control of synapse assembly and axon guidance. PloS one. vol 2. issue 4. 2010-04-19. PMID:17440611. tuberous sclerosis complex is a dominant genetic disorder produced by mutations in either of two tumor suppressor genes, tsc1 and tsc2; it is characterized by hamartomatous tumors, and is associated with severe neurological and behavioral disturbances. 2010-04-19 2023-08-12 drosophila_melanogaster
Ksenia A Orlova, Peter B Crin. The tuberous sclerosis complex. Annals of the New York Academy of Sciences. vol 1184. 2010-03-25. PMID:20146692. tuberous sclerosis complex (tsc) is an autosomal dominant disorder that results from mutations in the tsc1 or tsc2 genes and is associated with hamartoma formation in multiple organ systems. 2010-03-25 2023-08-12 Not clear
Duyu Nie, Alessia Di Nardo, Juliette M Han, Hasani Baharanyi, Ioannis Kramvis, Thanhthao Huynh, Sandra Dabora, Simone Codeluppi, Pier Paolo Pandolfi, Elena B Pasquale, Mustafa Sahi. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nature neuroscience. vol 13. issue 2. 2010-02-18. PMID:20062052. tuberous sclerosis complex is a disease caused by mutations in the tsc1 or tsc2 genes, which encode a protein complex that inhibits mtor kinase signaling by inactivating the rheb gtpase. 2010-02-18 2023-08-12 mouse
Jing Zhou, James Brugarolas, Luis F Parad. Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1. Human molecular genetics. vol 18. issue 22. 2010-02-03. PMID:19692352. tuberous sclerosis complex (tsc) is a genetic disorder linked to mutations of either the tsc1 or tsc2 gene, which encode proteins that form a complex to negatively regulate mammalian target of rapamycin complex 1 (mtorc1). 2010-02-03 2023-08-12 mouse
Po-Shun Lee, Szeman W Tsang, Marsha A Moses, Zachary Trayes-Gibson, Li-Li Hsiao, Roderick Jensen, Rachel Squillace, David J Kwiatkowsk. Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells. American journal of respiratory cell and molecular biology. vol 42. issue 2. 2010-02-01. PMID:19395678. the objective of this study was to investigate how tuberous sclerosis complex (tsc) 1 or tsc2 deficiency alters mmp expression and regulation. 2010-02-01 2023-08-12 Not clear
Chien-Hui Hong, Thomas N Darling, Chih-Hung Le. Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study. Neuroepidemiology. vol 33. issue 4. 2010-01-28. PMID:19887839. tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations in the tsc1 and tsc2 genes. 2010-01-28 2023-08-12 Not clear
Magdalena Karbowniczek, Diana Zitserman, Damir Khabibullin, Tiffiney Hartman, Jane Yu, Tasha Morrison, Emmanuelle Nicolas, Rachel Squillace, Fabrice Roegiers, Elizabeth Petri Hensk. The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. The Journal of clinical investigation. vol 120. issue 1. 2010-01-20. PMID:20038815. mutations in either of the genes encoding the tuberous sclerosis complex (tsc), tsc1 and tsc2, result in a multisystem tumor disorder characterized by lesions with unusual lineage expression patterns. 2010-01-20 2023-08-12 human
Deepak Adhikari, Gilian Flohr, Nagaraju Gorre, Yan Shen, Hairu Yang, Eva Lundin, Zijian Lan, Michael J Gambello, Kui Li. Disruption of Tsc2 in oocytes leads to overactivation of the entire pool of primordial follicles. Molecular human reproduction. vol 15. issue 12. 2010-01-15. PMID:19843635. in this study, we provide some genetic evidence to show that the tumor suppressor tuberous sclerosis complex 2 (tsc2), which negatively regulates mammalian target of rapamycin complex 1 (mtorc1), functions in oocytes to maintain the dormancy of primordial follicles. 2010-01-15 2023-08-12 mouse
Cédric Le Caignec, David J Kwiatkowski, Sébastien Küry, Jean-Benoit Hardouin, Judith Melki, Albert Davi. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. European journal of human genetics : EJHG. vol 17. issue 9. 2010-01-13. PMID:19259131. three independent mutations in the tsc2 gene in a family with tuberous sclerosis. 2010-01-13 2023-08-12 Not clear
D Ehninger, P J de Vries, A J Silv. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. Journal of intellectual disability research : JIDR. vol 53. issue 10. 2010-01-04. PMID:19694899. tuberous sclerosis (tsc) is a multi-system disorder caused by heterozygous mutations in the tsc1 or tsc2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. 2010-01-04 2023-08-12 Not clear
Milena Morel, Julien Couturier, Raymond Pontcharraud, Roger Gil, Bernard Fauconneau, Marc Paccalin, Guylène Pag. Evidence of molecular links between PKR and mTOR signalling pathways in Abeta neurotoxicity: role of p53, Redd1 and TSC2. Neurobiology of disease. vol 36. issue 1. 2009-12-07. PMID:19631745. this study analysed the crosslink between the up regulation of double-stranded rna-dependent-protein kinase (pkr) and the down regulation of mammalian target of rapamycin (mtor) signalling pathways via p53, the protein regulated in the development and dna damage response 1 (redd1) and the tuberous sclerosis complex (tsc2) factors in two beta-amyloid peptide (abeta) neurotoxicity models. 2009-12-07 2023-08-12 rat
Céline Lugnier, Michael Majores, Jana Fassunke, Katharina Pernhorst, Pitt Niehusmann, Matthias Simon, Mark Nellist, Susanne Schoch, Albert Becke. Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro. Journal of neuropathology and experimental neurology. vol 68. issue 10. 2009-12-04. PMID:19918125. there are many histopathologic similarities between focal cortical dysplasia type iib and cortical tubers in tuberous sclerosis complex (tsc), an autosomal-dominant phakomatosis caused by mutations in the tsc1 or tsc2 genes that encode hamartin and tuberin. 2009-12-04 2023-08-12 Not clear
Surojeet Sengupta, Rachel Schiff, Benita S Katzenellenboge. Post-transcriptional regulation of chemokine receptor CXCR4 by estrogen in HER2 overexpressing, estrogen receptor-positive breast cancer cells. Breast cancer research and treatment. vol 117. issue 2. 2009-11-17. PMID:18807177. pi3k/akt and mapk pathways are known to result in the phosphorylation and functional inactivation of tuberin (tsc2) of tuberous sclerosis complex thereby negating its inhibitory effects on mtor, which in turn stimulates the translational machinery. 2009-11-17 2023-08-12 Not clear
Hui H Zhang, Jingxiang Huang, Katrin Düvel, Bernard Boback, Shulin Wu, Rachel M Squillace, Chin-Lee Wu, Brendan D Mannin. Insulin stimulates adipogenesis through the Akt-TSC2-mTORC1 pathway. PloS one. vol 4. issue 7. 2009-11-10. PMID:19593385. one direct substrate that is inhibited by akt-mediated phosphorylation is the tuberous sclerosis complex 2 (tsc2) protein, which associates with tsc1 and acts as a critical negative regulator of the mammalian target of rapamycin (mtor) complex 1 (mtorc1). 2009-11-10 2023-08-12 Not clear
Guangli Suo, Anil Sadarangani, Babbette Lamarca, Bryan Cowan, Jean Y J Wan. Murine xenograft model for human uterine fibroids: an in vivo imaging approach. Reproductive sciences (Thousand Oaks, Calif.). vol 16. issue 9. 2009-11-05. PMID:19516078. the current knowledge on the fibroid disease mechanism has derived from studies of the eker rat model where a unique germ line defect in the tuberous sclerosis 2 (tsc2) tumor suppressor gene leads to the development of leiomyosarcoma, leiomyoma, and renal cancer. 2009-11-05 2023-08-12 mouse