All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
Kathrin Thedieck, Pazit Polak, Man Lyang Kim, Klaus D Molle, Adiel Cohen, Paul Jenö, Cécile Arrieumerlou, Michael N Hal. PRAS40 and PRR5-like protein are new mTOR interactors that regulate apoptosis. PloS one. vol 2. issue 11. 2008-08-21. PMID:18030348. unlike other mtorc2 members, prr5l is not required for mtorc2 integrity or kinase activity, but dissociates from mtorc2 upon knock down of tuberous sclerosis complex 1 (tsc1) and tsc2. 2008-08-21 2023-08-12 Not clear
Dan Ehninger, Sangyeul Han, Carrie Shilyansky, Yu Zhou, Weidong Li, David J Kwiatkowski, Vijaya Ramesh, Alcino J Silv. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nature medicine. vol 14. issue 8. 2008-08-21. PMID:18568033. tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the tsc1 (9q34) or tsc2 (16p13.3) gene and is frequently associated with mental retardation, autism and epilepsy. 2008-08-21 2023-08-12 mouse
Margit Rosner, Michaela Hanneder, Nicol Siegel, Alessandro Valli, Markus Hengstschläge. The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners. Mutation research. vol 658. issue 3. 2008-07-31. PMID:18291711. mutations in the tumor suppressor genes tsc1 and tsc2, encoding hamartin and tuberin, respectively, cause the tumor syndrome tuberous sclerosis with similar phenotypes. 2008-07-31 2023-08-12 Not clear
Han C Dan, Albert S Baldwi. Differential involvement of IkappaB kinases alpha and beta in cytokine- and insulin-induced mammalian target of rapamycin activation determined by Akt. Journal of immunology (Baltimore, Md. : 1950). vol 180. issue 11. 2008-07-18. PMID:18490760. mtor is negatively controlled by the tuberous sclerosis complex 1/2 (tsc1/2), and activation of akt induces phosphorylation of tsc2, which blocks the repressive tsc1/2 activity. 2008-07-18 2023-08-12 Not clear
Jingxiang Huang, Brendan D Mannin. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. The Biochemical journal. vol 412. issue 2. 2008-07-03. PMID:18466115. tsc1 and tsc2 are the tumour-suppressor genes mutated in the tumour syndrome tsc (tuberous sclerosis complex). 2008-07-03 2023-08-12 Not clear
Connie G Glasgow, Angelo M Taveira-Dasilva, Thomas N Darling, Joel Mos. Lymphatic involvement in lymphangioleiomyomatosis. Annals of the New York Academy of Sciences. vol 1131. 2008-07-03. PMID:18519973. disease results from the proliferation of neoplastic cells (lam cells), which, in many cases, have a smooth muscle cell phenotype, express melanoma antigens, and have mutations in one of the tuberous sclerosis complex genes (tsc1 or tsc2). 2008-07-03 2023-08-12 human
Lynsey Meikle, Kristen Pollizzi, Anna Egnor, Ioannis Kramvis, Heidi Lane, Mustafa Sahin, David J Kwiatkowsk. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 28. issue 21. 2008-06-26. PMID:18495876. tuberous sclerosis (tsc) is a hamartoma syndrome attributable to mutations in either tsc1 or tsc2 in which brain involvement causes epilepsy, mental retardation, and autism. 2008-06-26 2023-08-12 mouse
Jarosław Jóźwiak, Ryszard Galu. Molecular implications of skin lesions in tuberous sclerosis. The American Journal of dermatopathology. vol 30. issue 3. 2008-06-26. PMID:18496427. tuberous sclerosis (ts), neurocutaneous disorder resulting from the mutation of 1 of 2 genes, tsc1 or tsc2, is often associated with the formation of hamartomatous lesions in various organ systems, including the skin. 2008-06-26 2023-08-12 Not clear
Nathaniel J Moorman, Ileana M Cristea, Scott S Terhune, Michael P Rout, Brian T Chait, Thomas Shen. Human cytomegalovirus protein UL38 inhibits host cell stress responses by antagonizing the tuberous sclerosis protein complex. Cell host & microbe. vol 3. issue 4. 2008-06-24. PMID:18407068. one of the cellular proteins identified was tsc2, a constituent of the tuberous sclerosis tumor suppressor protein complex (tsc1/2). 2008-06-24 2023-08-12 human
Yong Li, Ken Inoki, Haris Vikis, Kun-Liang Gua. Measurements of TSC2 GAP activity toward Rheb. Methods in enzymology. vol 407. 2008-06-19. PMID:16757313. tuberous sclerosis complex (tsc) is a genetic disease caused by mutation in either the tsc1 or tsc2 tumor suppressor genes. 2008-06-19 2023-08-12 Not clear
Yutaka Shigeyama, Toshiyuki Kobayashi, Yoshiaki Kido, Naoko Hashimoto, Shun-Ichiro Asahara, Tomokazu Matsuda, Akihiko Takeda, Tae Inoue, Yuki Shibutani, Maki Koyanagi, Tohru Uchida, Maki Inoue, Okio Hino, Masato Kasuga, Tetsuo Nod. Biphasic response of pancreatic beta-cell mass to ablation of tuberous sclerosis complex 2 in mice. Molecular and cellular biology. vol 28. issue 9. 2008-06-19. PMID:18316403. given the role of tuberous sclerosis complex 2 (tsc2) as an upstream molecule of mtor (mammalian target of rapamycin), we examined the effect of tsc2 deficiency on beta-cell function. 2008-06-19 2023-08-12 mouse
Guido Martignoni, Maurizio Pea, Daniela Reghellin, Giuseppe Zamboni, Franco Bonett. PEComas: the past, the present and the future. Virchows Archiv : an international journal of pathology. vol 452. issue 2. 2008-05-20. PMID:18080139. pecomas are related to the genetic alterations of tuberous sclerosis complex (tsc), an autosomal dominant genetic disease due to losses of tsc1 (9q34) or tsc2 (16p13.3) genes which seem to have a role in the regulation of the rheb/mtor/p70s6k pathway. 2008-05-20 2023-08-12 Not clear
Jian Hu, Sima Zacharek, Yizhou Joseph He, Hyun Lee, Stuart Shumway, Robert J Duronio, Yue Xion. WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. Genes & development. vol 22. issue 7. 2008-05-13. PMID:18381890. tuberous sclerosis (tsc) is an autosomal dominant disease characterized by hamartoma formation in various organs and is caused by mutations targeting either the tsc1 or tsc2 genes. 2008-05-13 2023-08-12 drosophila_melanogaster
Elena A Goncharova, Vera P Krymskay. Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. Journal of cellular biochemistry. vol 103. issue 2. 2008-05-01. PMID:17541983. it has been discovered that in lam, somatic or genetic mutations of tumor suppressor genes tuberous sclerosis complex 1 (tsc1) or tsc2 occur and the tsc1/tsc2 protein complex functions as a negative regulator of the mtor/s6k1 signaling pathway. 2008-05-01 2023-08-12 Not clear
Umut Ozcan, Lale Ozcan, Erkan Yilmaz, Katrin Düvel, Mustafa Sahin, Brendan D Manning, Gökhan S Hotamisligi. Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. Molecular cell. vol 29. issue 5. 2008-04-28. PMID:18342602. loss of the tuberous sclerosis complex genes (tsc1 or tsc2) leads to constitutive activation of mtor and downstream signaling elements, resulting in the development of tumors, neurological disorders, and at the cellular level, severe insulin/igf-1 resistance. 2008-04-28 2023-08-12 mouse
Shaowei Li, Fumiko Takeuchi, Ji-An Wang, Qingyuan Fan, Toshi Komurasaki, Eric M Billings, Gustavo Pacheco-Rodriguez, Joel Moss, Thomas N Darlin. Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas. Proceedings of the National Academy of Sciences of the United States of America. vol 105. issue 9. 2008-04-18. PMID:18292222. patients with tuberous sclerosis complex (tsc) develop hamartomas containing biallelic inactivating mutations in either tsc1 or tsc2, resulting in mammalian target of rapamycin (mtor) activation. 2008-04-18 2023-08-12 Not clear
F E Jansen, O Braams, K L Vincken, A Algra, P Anbeek, A Jennekens-Schinkel, D Halley, B A Zonnenberg, A van den Ouweland, A C van Huffelen, O van Nieuwenhuizen, M Nellis. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology. vol 70. issue 12. 2008-04-17. PMID:18032745. the purpose of this study was to systematically analyze the associations between different tsc1 and tsc2 mutations and the neurologic and cognitive phenotype in patients with tuberous sclerosis complex (tsc). 2008-04-17 2023-08-12 Not clear
Piotr Kozlowski, John Bissler, York Pei, David J Kwiatkowsk. Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics. vol 91. issue 2. 2008-04-16. PMID:18060739. analysis of 15 tuberous sclerosis patient samples in which deletions in tsc2 extended into pkd1 showed no evidence of clustering of breakpoints near the polypyrimidine tract. 2008-04-16 2023-08-12 Not clear
Mark Nellist, Ozgür Sancak, Miriam Goedbloed, Alwin Adriaans, Marja Wessels, Anneke Maat-Kievit, Marieke Baars, Charlotte Dommering, Ans van den Ouweland, Dicky Halle. Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. BMC medical genetics. vol 9. 2008-04-14. PMID:18302728. functional characterisation of the tsc1-tsc2 complex to assess multiple tsc2 variants identified in single families affected by tuberous sclerosis complex. 2008-04-14 2023-08-12 Not clear
P Curatolo, L D'Argenzio, C Cerminara, R Bombardier. Management of epilepsy in tuberous sclerosis complex. Expert review of neurotherapeutics. vol 8. issue 3. 2008-04-14. PMID:18345974. tuberous sclerosis complex (tsc) is an inherited disorder resulting from mutations in one of two genes, tsc1 (hamartin) and tsc2 (tuberin). 2008-04-14 2023-08-12 Not clear