| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S Burgstaller, M Rosner, C Lindengrün, M Hanneder, N Siegel, A Valli, C Fuchs, M Hengstschläge. Tuberin, p27 and mTOR in different cells. Amino acids. vol 36. issue 2. 2009-04-10. PMID:18386114. |
mutations in the genes tsc1 or tsc2 cause the autosomal dominantly inherited tumor suppressor syndrome tuberous sclerosis, which is characterized by the development of tumors, named hamartomas, in different organs. |
2009-04-10 |
2023-08-12 |
Not clear |
| E A Vail, S K Rakowski, A L Numis, E A Thiel. Role of mutational analysis in diagnosis of tuberous sclerosis complex. Clinical genetics. vol 75. issue 3. 2009-04-08. PMID:19250385. |
we describe three cases in whom identification of a disease-causing mutation in the tsc1 or tsc2 gene preceded the appearance or detection of symptoms sufficient for a clinical diagnosis of tuberous sclerosis complex (tsc). |
2009-04-08 |
2023-08-12 |
Not clear |
| Catarina Fernandes Pires, Genise Mayara Alves Da Silva Anunciação, Wecilândia Lopes De Sousa, Bertha Maria De Moura Santos, Fernando Antonio Costa Anunciação, Anália Fernandes Pires, Lúcio Fernandes Pire. [Tuberous sclerosis in childhood]. Dermatology online journal. vol 14. issue 9. 2009-03-19. PMID:19061596. |
tuberous sclerosis is an autosomal dominant disease that results from mutations in one of two tumor suppressor genes, tsc1 and tsc2. |
2009-03-19 |
2023-08-12 |
Not clear |
| Christopher B Marshall, Jason Ho, Claudia Buerger, Michael J Plevin, Guang-Yao Li, Zhihong Li, Mitsuhiko Ikura, Vuk Stamboli. Characterization of the intrinsic and TSC2-GAP-regulated GTPase activity of Rheb by real-time NMR. Science signaling. vol 2. issue 55. 2009-03-18. PMID:19176517. |
tuberous sclerosis complex 2 (tsc2), whose gene is frequently mutated in tuberous sclerosis, increases the guanosine triphosphatase (gtpase) activity of the small heterotrimeric gtp-binding protein (g protein) rheb, thus resulting in the decreased activity of the mammalian target of rapamycin (mtor), the master regulator of cell growth. |
2009-03-18 |
2023-08-12 |
Not clear |
| Elena Lesma, Vera Grande, Silvia Ancona, Stephana Carelli, Anna Maria Di Giulio, Alfredo Gori. Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. PloS one. vol 3. issue 10. 2009-02-23. PMID:18958173. |
tuberous sclerosis complex (tsc), a tumor syndrome caused by mutations in tsc1 or tsc2 genes, is characterized by the development of hamartomas. |
2009-02-23 |
2023-08-12 |
human |
| Julian R Sampso. Therapeutic targeting of mTOR in tuberous sclerosis. Biochemical Society transactions. vol 37. issue Pt 1. 2009-02-11. PMID:19143643. |
both diseases are caused by mutations of tsc1 or tsc2 (tsc is tuberous sclerosis complex) that impair gap (gtpase-activating protein) activity of the tsc1-tsc2 complex for rheb, leading to inappropriate activity of signalling downstream of mtorc1 (mtor complex 1). |
2009-02-11 |
2023-08-12 |
mouse |
| Valerio Napolioni, Romina Moavero, Paolo Curatol. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain & development. vol 31. issue 2. 2009-02-09. PMID:19028034. |
tuberous sclerosis complex (tsc) is a multisystem genetic disorder with variable phenotypic expression, due to a mutation in one of the two genes, tsc1 and tsc2, and a subsequent hyperactivation of the downstream mtor pathway, resulting in increased cell growth and proliferation. |
2009-02-09 |
2023-08-12 |
Not clear |
| Jeremy Marsh, Purna Mukherjee, Thomas N Seyfrie. Akt-dependent proapoptotic effects of dietary restriction on late-stage management of a phosphatase and tensin homologue/tuberous sclerosis complex 2-deficient mouse astrocytoma. Clinical cancer research : an official journal of the American Association for Cancer Research. vol 14. issue 23. 2009-02-05. PMID:19047102. |
many astrocytomas are also tuberous sclerosis complex 2 (tsc2) protein deficient and exhibit constitutive mammalian target of rapamycin (mtor) activity. |
2009-02-05 |
2023-08-12 |
mouse |
| Ilona Patursky-Polischuk, Miri Stolovich-Rain, Mirit Hausner-Hanochi, Judith Kasir, Nadine Cybulski, Joseph Avruch, Markus A Rüegg, Michael N Hall, Oded Meyuha. The TSC-mTOR pathway mediates translational activation of TOP mRNAs by insulin largely in a raptor- or rictor-independent manner. Molecular and cellular biology. vol 29. issue 3. 2009-02-04. PMID:19047368. |
this translational activation involves the tuberous sclerosis complex (tsc), as the knockout of tsc1 or tsc2 rescues top mrnas from translational repression in mitotically arrested cells. |
2009-02-04 |
2023-08-12 |
Not clear |
| Karin Boer, Dirk Troost, Floor Jansen, Mark Nellist, Ans M W van den Ouweland, Jeroen J G Geurts, Wim G M Spliet, Peter Crino, Eleonora Aronic. Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 28. issue 6. 2009-01-28. PMID:18410267. |
tuberous sclerosis complex (tsc) is an autosomal dominant, multisystem disorder caused by mutations in either the tsc1 or tsc2 genes and characterized by developmental brain abnormalities. |
2009-01-28 |
2023-08-12 |
Not clear |
| Mark B Consugar, Wai C Wong, Patrick A Lundquist, Sandro Rossetti, Vickie J Kubly, Denise L Walker, Laureano J Rangel, Richard Aspinwall, W Patrick Niaudet, Seza Ozen, Albert David, Milen Velinov, Eric J Bergstralh, Kyongtae T Bae, Arlene B Chapman, Lisa M Guay-Woodford, Jared J Grantham, Vicente E Torres, Julian R Sampson, Brian D Dawson, Peter C Harri. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney international. vol 74. issue 11. 2009-01-19. PMID:18818683. |
a tuberous sclerosis gene, tsc2, lies immediately adjacent to pkd1 and large deletions can result in the pkd1/tsc2 contiguous gene deletion syndrome. |
2009-01-19 |
2023-08-12 |
Not clear |
| Ken Inok. Role of TSC-mTOR pathway in diabetic nephropathy. Diabetes research and clinical practice. vol 82 Suppl 1. 2009-01-15. PMID:18926585. |
tuberous sclerosis complex (tsc) gene products, tsc1 and tsc2 are tumor suppressors and specifically suppress torc1 activity. |
2009-01-15 |
2023-08-12 |
Not clear |
| Dany Arsic, Patrick M Gueri. Nutrient content of diet affects the signaling activity of the insulin/target of rapamycin/p70 S6 kinase pathway in the African malaria mosquito Anopheles gambiae. Journal of insect physiology. vol 54. issue 8. 2008-12-09. PMID:18634792. |
we assayed the early response of tor, s6k, tuberous sclerosis (tsc2), insulin receptor (inr) and two insulin-like peptides (ilps) by quantitative real-time pcr assessment of mrna levels and immunoblotting of phosphorylated active tor and s6k in an. |
2008-12-09 |
2023-08-12 |
Not clear |
| M Shiono, T Kobayashi, R Takahashi, G Sun, M Abe, D Zhang, L Wang, X Piao, Y Takagi, R Mineki, H Taka, N Tada, S Sonobe, S Momose, M Ueda, O Hin. The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. Oncogene. vol 27. issue 52. 2008-11-18. PMID:18695678. |
tuberin, a tumor-suppressor protein produced by the tuberous sclerosis gene tsc2, downregulates the rheb-mtor-s6k pathway (mtor axis). |
2008-11-18 |
2023-08-12 |
human |
| Jill Wildonger, Lily Yeh Jan, Yuh Nung Ja. The Tsc1-Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels. Genes & development. vol 22. issue 18. 2008-10-16. PMID:18794342. |
in this issue of genes & development choi and colleagues (2485-2495) show that without tuberous sclerosis complex 1 (tsc1) or tsc2, molecules linked to the autosomal dominant disease tuberous sclerosis, an increase in the activity of the translational regulator target of rapamycin 1 (torc1) causes neurons to have multiple axons and the translation of sad kinase increases as well. |
2008-10-16 |
2023-08-12 |
Not clear |
| Yong-Jin Choi, Alessia Di Nardo, Ioannis Kramvis, Lynsey Meikle, David J Kwiatkowski, Mustafa Sahin, Xi H. Tuberous sclerosis complex proteins control axon formation. Genes & development. vol 22. issue 18. 2008-10-16. PMID:18794346. |
tsc1 and tsc2 are two genes, mutations in which cause tuberous sclerosis complex (tsc), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. |
2008-10-16 |
2023-08-12 |
mouse |
| Margit Rosner, Michaela Hanneder, Nicol Siegel, Alessandro Valli, Christiane Fuchs, Markus Hengstschläge. The mTOR pathway and its role in human genetic diseases. Mutation research. vol 659. issue 3. 2008-10-14. PMID:18598780. |
mutations in the mtor pathway component genes tsc1, tsc2, lkb1, pten, vhl, nf1 and pkd1 trigger the development of the syndromes tuberous sclerosis, peutz-jeghers syndrome, cowden syndrome, bannayan-riley-ruvalcaba syndrome, lhermitte-duclos disease, proteus syndrome, von hippel-lindau disease, neurofibromatosis type 1, and polycystic kidney disease, respectively. |
2008-10-14 |
2023-08-12 |
human |
| Carolyn L Buller, Robert D Loberg, Ming-Hui Fan, Qihong Zhu, James L Park, Eileen Vesely, Ken Inoki, Kun-Liang Guan, Frank C Brosiu. A GSK-3/TSC2/mTOR pathway regulates glucose uptake and GLUT1 glucose transporter expression. American journal of physiology. Cell physiology. vol 295. issue 3. 2008-10-09. PMID:18650261. |
since gsk-3 can inhibit mammalian target of rapamycin (mtor) signaling via phosphorylation of the tuberous sclerosis complex subunit 2 (tsc2) tumor suppressor, we investigated whether chronic gsk-3 effects on glucose uptake and glut1 expression depended on tsc2 phosphorylation and tsc inhibition of mtor. |
2008-10-09 |
2023-08-12 |
Not clear |
| Sangyeul Han, Rochelle M Witt, Túlio M Santos, Carolyn Polizzano, Bernardo L Sabatini, Vijaya Rames. Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling. Cellular signalling. vol 20. issue 6. 2008-09-29. PMID:18308511. |
the tumor suppressor tuberin, encoded by the tuberous sclerosis complex (tsc) gene tsc2, negatively regulates the mammalian target of rapamycin (mtor) pathway, which plays a key role in the control of cell growth and proliferation. |
2008-09-29 |
2023-08-12 |
rat |
| Karen H Lu, Weiguo Wu, Bhuvanesh Dave, Brian M Slomovitz, Thomas W Burke, Mark F Munsell, Russell R Broaddus, Cheryl Lyn Walke. Loss of tuberous sclerosis complex-2 function and activation of mammalian target of rapamycin signaling in endometrial carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research. vol 14. issue 9. 2008-09-18. PMID:18451215. |
although tuberous sclerosis complex 2 (tsc2) is the "gatekeeper" for mtor activation, little is known about defects in the tsc2 tumor suppressor or signaling pathways that regulate tsc2, such as lkb1/amp-activated protein kinase, in the development of endometrial carcinoma. |
2008-09-18 |
2023-08-12 |
Not clear |