| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Juxiang Cao, Magdalena E Tyburczy, Joel Moss, Thomas N Darling, Hans R Widlund, David J Kwiatkowsk. Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. The Journal of clinical investigation. vol 127. issue 1. 2017-09-06. PMID:27918305. |
tuberous sclerosis complex (tsc) is an autosomal dominant tumor-suppressor gene syndrome caused by inactivating mutations in either tsc1 or tsc2, and the tsc protein complex is an essential regulator of mtor complex 1 (mtorc1). |
2017-09-06 |
2023-08-13 |
human |
| Lisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, Lasse Jonsgaard Larsen, John R Ostergaard, Mette Sommerlund, Caroline Ostenfeldt, Brian Stausbøl-Grøn, Karen Markussen Linnet, Pernille Axél Gregersen, Uffe Birk Jense. Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. Molecular genetics and metabolism. vol 120. issue 4. 2017-08-29. PMID:28336152. |
tsc1 and tsc2 are genes mutated in the syndrome tsc (tuberous sclerosis complex). |
2017-08-29 |
2023-08-13 |
Not clear |
| Yu-Chun Pan, Wei-Qing Wu, Jian-Sheng Xie, Cai-Qun Luo, Ying Ha. [Two novel TSC2 frameshift mutations in tuberous sclerosis complex]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. vol 19. issue 3. 2017-08-01. PMID:28302202. |
[two novel tsc2 frameshift mutations in tuberous sclerosis complex]. |
2017-08-01 |
2023-08-13 |
Not clear |
| Yu-Chun Pan, Wei-Qing Wu, Jian-Sheng Xie, Cai-Qun Luo, Ying Ha. [Two novel TSC2 frameshift mutations in tuberous sclerosis complex]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. vol 19. issue 3. 2017-08-01. PMID:28302202. |
high-throughput sequencing was performed for the peripheral blood dna from two probands in the family with tuberous sclerosis complex (tsc) to determine the sequences of tsc-related genes tsc1 and tsc2 and their splicing regions and identify mutation sites. |
2017-08-01 |
2023-08-13 |
Not clear |
| Tristan X Jordan, Glenn Randal. Dengue Virus Activates the AMP Kinase-mTOR Axis To Stimulate a Proviral Lipophagy. Journal of virology. vol 91. issue 11. 2017-07-27. PMID:28298606. |
constitutive activation of mtorc1 by depletion of tuberous sclerosis complex 2 (tsc2) inhibits lipophagy induction in denv-infected cells and decreases viral replication. |
2017-07-27 |
2023-08-13 |
Not clear |
| Iris E Overwater, Rob Swenker, Emma L van der Ende, Kimberley Bm Hanemaayer, Marianne Hoogeveen-Westerveld, Agnies M van Eeghen, Maarten H Lequin, Ans Mw van den Ouweland, Henriëtte A Moll, Mark Nellist, Marie-Claire Y de Wi. Genotype and brain pathology phenotype in children with tuberous sclerosis complex. European journal of human genetics : EJHG. vol 24. issue 12. 2017-07-11. PMID:27406250. |
tuberous sclerosis complex is caused by inactivating tsc1 or tsc2 mutations. |
2017-07-11 |
2023-08-13 |
Not clear |
| Longbo Zhang, Tianxiang Huang, Angélique Borde. Tsc1 haploinsufficiency is sufficient to increase dendritic patterning and Filamin A levels. Neuroscience letters. vol 629. 2017-06-29. PMID:27345385. |
most individuals with tuberous sclerosis complex (tsc) are born with a mutant allele of either tsc1 or tsc2 and a mosaic of psychological and cognitive defects. |
2017-06-29 |
2023-08-13 |
mouse |
| Monika Linke, Ha Thi Thanh Pham, Karl Katholnig, Thomas Schnöller, Anne Miller, Florian Demel, Birgit Schütz, Margit Rosner, Boris Kovacic, Nyamdelger Sukhbaatar, Birgit Niederreiter, Stephan Blüml, Peter Kuess, Veronika Sexl, Mathias Müller, Mario Mikula, Wolfram Weckwerth, Arvand Haschemi, Martin Susani, Markus Hengstschläger, Michael J Gambello, Thomas Weichhar. Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression. Nature immunology. vol 18. issue 3. 2017-06-29. PMID:28092373. |
we found that activation of the metabolic checkpoint kinase mtorc1 in macrophages by deletion of the gene encoding tuberous sclerosis 2 (tsc2) was sufficient to induce hypertrophy and proliferation, resulting in excessive granuloma formation in vivo. |
2017-06-29 |
2023-08-13 |
mouse |
| Ana García-Aguilar, Carlos Guillén, Mark Nellist, Alberto Bartolomé, Manuel Benit. TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy. Biochimica et biophysica acta. vol 1863. issue 11. 2017-06-26. PMID:27542907. |
this study analyzes tuberous sclerosis complex (tsc2) lysine acetylation, in the regulation of mtorc1 signaling activation, autophagy and cell proliferation. |
2017-06-26 |
2023-08-13 |
Not clear |
| Samara L Potter, Rajkumar Venkatramani, Scott Wenderfer, Brett H Graham, Sanjeev A Vasudevan, Andrew Sher, Hao Wu, David A Wheeler, Yaping Yang, Christine M Eng, Richard A Gibbs, Angshumoy Roy, Sharon E Plon, D Williams Parson. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatric blood & cancer. vol 64. issue 5. 2017-06-26. PMID:27748010. |
pediatric renal cell carcinoma (rcc) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (tsc) caused by germline mutations in tsc1 or tsc2. |
2017-06-26 |
2023-08-13 |
Not clear |
| Hui Chen, Xuefei Lin, Shi Lian, Wei Zh. Novel nonsense mutation of the TSC2 gene in a case of Tuberous Sclerosis Complex. European journal of dermatology : EJD. vol 26. issue 3. 2017-06-23. PMID:27194594. |
novel nonsense mutation of the tsc2 gene in a case of tuberous sclerosis complex. |
2017-06-23 |
2023-08-13 |
Not clear |
| Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor Azni Yahya, Narazah Mohd Yusoff, Teguh Haryo Sasongko, Z A M H Zabidi-Hussi. Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. The Journal of molecular diagnostics : JMD. vol 19. issue 2. 2017-06-15. PMID:28087349. |
tuberous sclerosis complex (tsc) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either tsc1 or tsc2 genes. |
2017-06-15 |
2023-08-13 |
human |
| C-H Hong, H-P Tu, J-R Lin, C-H Le. An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997-2010). The British journal of dermatology. vol 174. issue 6. 2017-06-13. PMID:26800857. |
tuberous sclerosis complex (tsc) is caused by mutations in tsc1 and tsc2, leading to mammalian target of rapamycin hyperactivation. |
2017-06-13 |
2023-08-13 |
Not clear |
| Daowen Li, Kena Zhao, Xiayun Yang, Xilong Xiao, Shusheng Tan. TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells. Molecules (Basel, Switzerland). vol 22. issue 4. 2017-05-31. PMID:28387735. |
the purpose of this study was to investigate the role of tuberous sclerosis complex (tsc2) pathways in olaquindox-induced autophagy in human embryonic kidney 293 (hek293) cells. |
2017-05-31 |
2023-08-13 |
human |
| Michael Yue, Gustavo Pacheco, Tao Cheng, Jefferine Li, Yitang Wang, Elizabeth P Henske, Lucia Schuge. Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis. The American journal of pathology. vol 186. issue 7. 2017-05-12. PMID:27289491. |
these genes encode the proteins tuberous sclerosis complex (tsc)-1 and tsc2, which are directly involved in suppressing the mechanistic target of rapamycin cell growth signaling pathway. |
2017-05-12 |
2023-08-13 |
Not clear |
| Reinhard Zech, Stephan Kiontke, Uwe Mueller, Andrea Oeckinghaus, Daniel Kümme. Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. The Journal of biological chemistry. vol 291. issue 38. 2017-05-12. PMID:27493206. |
structure of the tuberous sclerosis complex 2 (tsc2) n terminus provides insight into complex assembly and tuberous sclerosis pathogenesis. |
2017-05-12 |
2023-08-13 |
human |
| Reinhard Zech, Stephan Kiontke, Uwe Mueller, Andrea Oeckinghaus, Daniel Kümme. Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis. The Journal of biological chemistry. vol 291. issue 38. 2017-05-12. PMID:27493206. |
tuberous sclerosis complex (tsc) is caused by mutations in the tsc1 and tsc2 tumor suppressor genes. |
2017-05-12 |
2023-08-13 |
human |
| Jian Yang, Paulina A Samsel, Kalin Narov, Ashley Jones, Daniel Gallacher, John Gallacher, Julian R Sampson, Ming Hong She. Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2 Neoplasia (New York, N.Y.). vol 19. issue 2. 2017-05-04. PMID:28092822. |
combination of everolimus with sorafenib for solid renal tumors in tsc2 tuberous sclerosis (tsc) is an inherited tumor syndrome caused by mutations in tsc1 or tsc2 that lead to aberrant activation of mtor and development of tumors in multiple organs including the kidneys. |
2017-05-04 |
2023-08-13 |
Not clear |
| Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyam. Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report. BMC medical genetics. vol 17. issue 1. 2017-05-02. PMID:27871249. |
here we report, for the first time to our knowledge, a patient with bhd syndrome who was complicated with a clear cell "sugar" tumor (ccst) of the lung, a benign tumor belonging to perivascular epithelioid cell tumors (pecomas) with frequent causative relation to tuberous sclerosis complex 1 (tsc1) or 2 (tsc2) gene. |
2017-05-02 |
2023-08-13 |
Not clear |
| Yuanyuan Wang, Chen Chen, Ziyu Deng, Erbao Bian, Cheng Huang, Ting Lei, Xiongwen Lv, Liping Liu, Jun L. Repression of TSC1/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation. International journal of biological macromolecules. vol 96. 2017-04-17. PMID:28041914. |
the tuberous sclerosis proteins tsc1 and tsc2 are two key signaling factors which can suppress cell growth and proliferation. |
2017-04-17 |
2023-08-13 |
mouse |