| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tingting Yu, Yingzhong He, Niu Li, Yunqing Zhou, Zhiping Wang, Qihua Fu, Jiwen Wang, Jian Wan. Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. Clinical neurology and neurosurgery. vol 154. 2017-03-22. PMID:28178598. |
novel tsc1 and tsc2 gene mutations in chinese patients with tuberous sclerosis complex. |
2017-03-22 |
2023-08-13 |
Not clear |
| Tingting Yu, Yingzhong He, Niu Li, Yunqing Zhou, Zhiping Wang, Qihua Fu, Jiwen Wang, Jian Wan. Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. Clinical neurology and neurosurgery. vol 154. 2017-03-22. PMID:28178598. |
the study was designed to identify pathogenic tsc1 or tsc2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (tsc). |
2017-03-22 |
2023-08-13 |
Not clear |
| Stephen M Bonsib, Christie Boils, Neriman Gokden, David Grignon, Xin Gu, John P T Higgins, Xavier Leroy, Jesse K McKenney, Samih H Nasr, Carrie Phillips, Ankur R Sangoi, Jon Wilson, Ping L Zhan. Tuberous sclerosis complex: Hamartin and tuberin expression in renal cysts and its discordant expression in renal neoplasms. Pathology, research and practice. vol 212. issue 11. 2017-03-17. PMID:27640314. |
tuberous sclerosis complex (tsc) results from mutation of tsc1 or tsc2 that encode for hamartin and tuberin. |
2017-03-17 |
2023-08-13 |
Not clear |
| Okio Hino, Toshiyuki Kobayash. Mourning Dr. Alfred G. Knudson: the two-hit hypothesis, tumor suppressor genes, and the tuberous sclerosis complex. Cancer science. vol 108. issue 1. 2017-03-06. PMID:27862655. |
from the molecular identification of tsc2 germline mutations, the eker rat became a model for tuberous sclerosis complex (tsc), a familial tumor-predisposing syndrome. |
2017-03-06 |
2023-08-13 |
rat |
| Kristen D Starbuck, Richard D Drake, G Thomas Budd, Peter G Ros. Treatment of Advanced Malignant Uterine Perivascular Epithelioid Cell Tumor with mTOR Inhibitors: Single-institution Experience and Review of the Literature. Anticancer research. vol 36. issue 11. 2017-01-30. PMID:27793946. |
identification of mutations in the tuberous sclerosis 1 (tsc1) and tsc2 genes producing constitutive activation of the mammalian target of rapamycin (mtor) pathway presents an opportunity for targeted therapy. |
2017-01-30 |
2023-08-13 |
Not clear |
| Xu Zheng, Wenlei Bao, Jiaofu Yang, Tao Zhang, Dongsheng Sun, Yan Liang, Shuyu Li, Yanfeng Wang, Xue Feng, Huifang Hao, Zhigang Wan. Focal Adhesion Kinase Directly Interacts with TSC2 Through Its FAT Domain and Regulates Cell Proliferation in Cashmere Goat Fetal Fibroblasts. DNA and cell biology. vol 35. issue 9. 2017-01-25. PMID:27380318. |
further research demonstrated that fak directly interacted with tsc2 (tuberous sclerosis 2) tuberin domain through its c-terminus, which contains the complete fat domain. |
2017-01-25 |
2023-08-13 |
Not clear |
| Hen Prizant, Manisha Taya, Irina Lerman, Allison Light, Aritro Sen, Soumya Mitra, Thomas H Foster, Stephen R Hamme. Estrogen maintains myometrial tumors in a lymphangioleiomyomatosis model. Endocrine-related cancer. vol 23. issue 4. 2017-01-19. PMID:26880751. |
lam cells contain mutations in tuberous sclerosis genes (tsc1 or tsc2), leading to up-regulation of mtorc1 activity and elevated proliferation. |
2017-01-19 |
2023-08-13 |
mouse |
| Yumi Aizawa, Tomomi Shirai, Toshiyuki Kobayashi, Okio Hino, Yoshimasa Tsujii, Hirofumi Inoue, Machiko Kazami, Tadahiro Tadokoro, Tsukasa Suzuki, Ken-Ichi Kobayashi, Yuji Yamamot. Metabolic abnormalities induced by mitochondrial dysfunction in skeletal muscle of the renal carcinoma Eker (TSC2+/-) rat model. Bioscience, biotechnology, and biochemistry. vol 80. issue 8. 2017-01-18. PMID:27031579. |
tuberous sclerosis complex 2 (tsc2) is a mediator of insulin signal transduction, and a loss of function in tsc2 induces hyperactivation of mtorc1 pathway, which leads to tumorigenesis. |
2017-01-18 |
2023-08-13 |
rat |
| Vinit V Patil, Miguel Guzman, Angela N Carter, Geetanjali Rathore, Daniel Yoshor, Daniel Curry, Angus Wilfong, Satish Agadi, John W Swann, Adekunle M Adesina, Meenakshi B Bhattacharjee, Anne E Anderso. Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 36. issue 2. 2017-01-09. PMID:26381727. |
moreover, extracellular regulated kinase (erk) has been shown to phosphorylate s6 at serine 235/236 (s(235/236) ) and tuberous sclerosis complex 2 (tsc2) at serine 664 (s(664) ) leading to hyperactive mtor signaling. |
2017-01-09 |
2023-08-13 |
Not clear |
| Cyndi R Morales, Dan L Li, Zully Pedrozo, Herman I May, Nan Jiang, Viktoriia Kyrychenko, Geoffrey W Cho, Soo Young Kim, Zhao V Wang, David Rotter, Beverly A Rothermel, Jay W Schneider, Sergio Lavandero, Thomas G Gillette, Joseph A Hil. Inhibition of class I histone deacetylases blunts cardiac hypertrophy through TSC2-dependent mTOR repression. Science signaling. vol 9. issue 422. 2016-12-20. PMID:27048565. |
we determined that the abundance of tuberous sclerosis complex 2 (tsc2), an mtor inhibitor, was increased through a transcriptional mechanism in cardiomyocytes when class i hdacs were inhibited. |
2016-12-20 |
2023-08-13 |
mouse |
| Veronica Costa, Stefan Aigner, Mirko Vukcevic, Evelyn Sauter, Katharina Behr, Martin Ebeling, Tom Dunkley, Arno Friedlein, Sannah Zoffmann, Claas A Meyer, Frédéric Knoflach, Sebastian Lugert, Christoph Patsch, Fatiha Fjeldskaar, Laurie Chicha-Gaudimier, Anna Kiialainen, Paolo Piraino, Marc Bedoucha, Martin Graf, Sebastian Jessberger, Anirvan Ghosh, Josef Bischofberger, Ravi Jagasi. mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis. Cell reports. vol 15. issue 1. 2016-12-20. PMID:27052171. |
hyperfunction of the mtorc1 pathway has been associated with idiopathic and syndromic forms of autism spectrum disorder (asd), including tuberous sclerosis, caused by loss of either tsc1 or tsc2. |
2016-12-20 |
2023-08-13 |
human |
| Rosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Jessica Panzer, Steven Sparagana, Warren Emmett, Natalie L Dawson, Marie Claire Malinge, Rima Nabbout, Caterina Carbonara, Marco Barberis, Sergio Padovan, Marta Futema, Vincent Plagnol, Steve E Humphries, Nicola Migone, Sue Pove. Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. Human mutation. vol 37. issue 4. 2016-12-13. PMID:26703369. |
variants within tsc2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis. |
2016-12-13 |
2023-08-13 |
human |
| Rosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Jessica Panzer, Steven Sparagana, Warren Emmett, Natalie L Dawson, Marie Claire Malinge, Rima Nabbout, Caterina Carbonara, Marco Barberis, Sergio Padovan, Marta Futema, Vincent Plagnol, Steve E Humphries, Nicola Migone, Sue Pove. Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. Human mutation. vol 37. issue 4. 2016-12-13. PMID:26703369. |
inactivating mutations in tsc1 and tsc2 cause tuberous sclerosis complex (tsc). |
2016-12-13 |
2023-08-13 |
human |
| A S McCampbell, M L Mittelstadt, R Dere, S Kim, L Zhou, B Djordjevic, P T Soliman, Q Zhang, C Wei, S D Hursting, K H Lu, R R Broaddus, C L Walke. Loss of p27 Associated with Risk for Endometrial Carcinoma Arising in the Setting of Obesity. Current molecular medicine. vol 16. issue 3. 2016-12-13. PMID:26917264. |
growth of these tumors is driven by pi3k/akt activation, and opposed by tumor suppressors, including the tuberous sclerosis complex 2 (tsc-2) and p27, with inactivation of tsc2 and loss or cytoplasmic mislocalization of p27 both being linked to pi3k/akt activation. |
2016-12-13 |
2023-08-13 |
rat |
| Paolo Curatolo, Marit Bjørnvold, Patricia E Dill, José Carlos Ferreira, Martha Feucht, Christoph Hertzberg, Anna Jansen, Sergiusz Jóźwiak, J Christopher Kingswood, Katarzyna Kotulska, Alfons Macaya, Romina Moavero, Rima Nabbout, Bernard A Zonnenber. The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions. Drugs. vol 76. issue 5. 2016-12-13. PMID:26927950. |
tuberous sclerosis complex (tsc) is a genetic disorder arising from mutations in the tsc1 or tsc2 genes. |
2016-12-13 |
2023-08-13 |
Not clear |
| Fu-Zheng Wei, Ziyang Cao, Xi Wang, Hui Wang, Mu-Yan Cai, Tingting Li, Naoko Hattori, Donglai Wang, Yipeng Du, Boyan Song, Lin-Lin Cao, Changchun Shen, Lina Wang, Haiying Wang, Yang Yang, Dan Xie, Fan Wang, Toshikazu Ushijima, Ying Zhao, Wei-Guo Zh. Epigenetic regulation of autophagy by the methyltransferase EZH2 through an MTOR-dependent pathway. Autophagy. vol 11. issue 12. 2016-10-31. PMID:26735435. |
downregulation of tsc2 (tuberous sclerosis 2) by ezh2 elicited mtor activation, which in turn modulated subsequent mtor pathway-related events, including inhibition of autophagy. |
2016-10-31 |
2023-08-13 |
human |
| Alan A Dombkowski, Carlos E Batista, Daniela Cukovic, Nicholas J Carruthers, Ramya Ranganathan, Upasana Shukla, Paul M Stemmer, Harry T Chugani, Diane C Chugan. Cortical Tubers: Windows into Dysregulation of Epilepsy Risk and Synaptic Signaling Genes by MicroRNAs. Cerebral cortex (New York, N.Y. : 1991). vol 26. issue 3. 2016-10-28. PMID:25452577. |
tuberous sclerosis complex (tsc) is a multisystem genetic disorder caused by mutations in the tsc1 and tsc2 genes. |
2016-10-28 |
2023-08-13 |
Not clear |
| Lyn M Moi. Lymphangioleiomyomatosis: Current understanding and potential treatments. Pharmacology & therapeutics. vol 158. 2016-10-26. PMID:26713679. |
these processes include mutational inactivation of the tuberous sclerosis complex genes, tsc1 and tsc2, activation of the mammalian target of rapamycin (mtor) pathway, enhanced cell proliferation and migration, lymphangiogenesis, metastatic spread through the blood and lymphatic circulations, sex steroid sensitivity and dysregulated autophagy. |
2016-10-26 |
2023-08-13 |
Not clear |
| Jiayue Qin, Zhizhi Wang, Marianne Hoogeveen-Westerveld, Guobo Shen, Weimin Gong, Mark Nellist, Wenqing X. Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7). The Journal of biological chemistry. vol 291. issue 16. 2016-10-07. PMID:26893383. |
mutations in tsc1 or tsc2 cause tuberous sclerosis complex (tsc), an autosomal dominant disorder characterized by the occurrence of benign tumors in various vital organs and tissues. |
2016-10-07 |
2023-08-13 |
Not clear |
| Yu Gao, Ronald B Gartenhaus, Rena G Lapidus, Arif Hussain, Yanting Zhang, Xinghuan Wang, Han C Da. Differential IKK/NF-κB Activity Is Mediated by TSC2 through mTORC1 in PTEN-Null Prostate Cancer and Tuberous Sclerosis Complex Tumor Cells. Molecular cancer research : MCR. vol 13. issue 12. 2016-10-05. PMID:26374334. |
differential ikk/nf-κb activity is mediated by tsc2 through mtorc1 in pten-null prostate cancer and tuberous sclerosis complex tumor cells. |
2016-10-05 |
2023-08-13 |
Not clear |