| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Mouhamed Alsaqati, Vivi M Heine, Adrian J Harwoo. Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation. Molecular autism. vol 11. issue 1. 2021-08-03. PMID:33076974. |
tuberous sclerosis complex (tsc) is a rare genetic multisystemic disorder resulting from autosomal dominant mutations in the tsc1 or tsc2 genes. |
2021-08-03 |
2023-08-13 |
human |
| Patrick Hansmann, Anne Brückner, Stephan Kiontke, Bianca Berkenfeld, Guiscard Seebohm, Pascal Brouillard, Miikka Vikkula, Floor E Jansen, Mark Nellist, Andrea Oeckinghaus, Daniel Kümme. Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations. Structure (London, England : 1993). vol 28. issue 8. 2021-07-28. PMID:32502382. |
mutations in the tsc1 and tsc2 subunits of the complex cause tuberous sclerosis complex (tsc). |
2021-07-28 |
2023-08-13 |
Not clear |
| Luiz G Dufner Almeida, Santoesha Nanhoe, Andrea Zonta, Mitra Hosseinzadeh, Regina Kom-Gortat, Peter Elfferich, Gerben Schaaf, Annegien Kenter, Daniel Kümmel, Nicola Migone, Sue Povey, Rosemary Ekong, Mark Nellis. Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings. Human mutation. vol 41. issue 4. 2021-07-22. PMID:31799751. |
the tsc1 and tsc2 gene products interact to form the tuberous sclerosis complex (tsc), an important negative regulator of the mechanistic target of rapamycin complex 1 (torc1). |
2021-07-22 |
2023-08-13 |
Not clear |
| Nicola Alesi, Elie W Akl, Damir Khabibullin, Heng-Jia Liu, Anna S Nidhiry, Emma R Garner, Harilaos Filippakis, Hilaire C Lam, Wei Shi, Srinivas R Viswanathan, Manrico Morroni, Shawn M Ferguson, Elizabeth P Hensk. TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism. Nature communications. vol 12. issue 1. 2021-07-21. PMID:34253722. |
tuberous sclerosis complex (tsc) is caused by tsc1 or tsc2 mutations, resulting in hyperactivation of the mechanistic target of rapamycin complex 1 (mtorc1). |
2021-07-21 |
2023-08-13 |
Not clear |
| Chen Zhu, Quan Zhou, Cong Luo, Ying Che. Dexmedetomidine Protects Against Oxygen-Glucose Deprivation-Induced Injury Through Inducing Astrocytes Autophagy via TSC2/mTOR Pathway. Neuromolecular medicine. vol 22. issue 2. 2021-07-19. PMID:31654225. |
in addition, dex enhanced the expression of tuberous sclerosis complex 2 (tsc2) in primary cultured astrocytes, while reduced the expression of mammalian target of rapamycin (mtor). |
2021-07-19 |
2023-08-13 |
Not clear |
| Yuhuan Meng, Changshun Yu, Meijun Chen, Xiaokang Yu, Mingming Sun, Hui Yan, Weiwei Zhao, Shihui Y. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex. Journal of human genetics. vol 66. issue 3. 2021-07-13. PMID:32917966. |
genetic testing of tsc1 and tsc2 is important for the diagnosis of tuberous sclerosis complex (tsc), an autosomal dominant neurocutaneous disease. |
2021-07-13 |
2023-08-13 |
Not clear |
| Johann Philipp Zöllner, Nadine Conradi, Matthias Sauter, Markus Knuf, Susanne Knake, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Klaus Marquard, Sascha Meyer, Anna H Noda, Felix von Podewils, Hannah Schäfer, Charlotte Thiels, Bianca Zukunft, Susanne Schubert-Bast, Janina Grau, Laurent M Willems, Felix Rosenow, Jens-Peter Reese, Adam Strzelczy. Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany. Neurological research and practice. vol 3. issue 1. 2021-07-01. PMID:34176514. |
tuberous sclerosis complex (tsc) is a monogenetic, multisystemic disease characterised by the formation of benign tumours that can affect almost all organs, caused by pathogenic variations in tsc1 or tsc2. |
2021-07-01 |
2023-08-13 |
Not clear |
| Jana Marie Schwarz, Leonardo Pedrazza, Werner Stenzel, Jose Luis Rosa, Markus Schuelke, Rachel Straussber. A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism. Molecular genetics and metabolism. vol 131. issue 1-2. 2021-06-30. PMID:32921582. |
the giant 532 kda herc1 protein is a ubiquitin ligase that interacts with tuberous sclerosis complex subunit 2 (tsc2), a negative upstream regulator of the mammalian target of rapamycin complex 1 (mtorc1). |
2021-06-30 |
2023-08-13 |
Not clear |
| Johann Philipp Zöllner, Janina Grau, Felix Rosenow, Matthias Sauter, Markus Knuf, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Susanne Knake, Klaus Marquard, Sascha Meyer, Anna H Noda, Felix von Podewils, Hannah Schäfer, Charlotte Thiels, Laurent M Willems, Bianca Zukunft, Susanne Schubert-Bast, Adam Strzelczy. Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature. Orphanet journal of rare diseases. vol 16. issue 1. 2021-06-28. PMID:34078440. |
tuberous sclerosis complex (tsc) is a monogenetic, multisystem disorder characterized by benign growths due to tsc1 or tsc2 mutations. |
2021-06-28 |
2023-08-13 |
Not clear |
| Mei-Hua Yang, Zhong-Ke Wang, Yi Huang, Sheng-Qing Lv, Chun-Qing Zhang, Yuan-Yuan Zhu, Qing-Wu Yang, Shi-Yong Li. A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 37. issue 1. 2021-06-24. PMID:32533299. |
a novel de novo tsc2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex. |
2021-06-24 |
2023-08-13 |
Not clear |
| Sharon Barone, Kamyar Zahedi, Marybeth Brooks, Elizabeth P Henske, Yirong Yang, Erik Zhang, John J Bissler, Jane J Yu, Manoocher Soleiman. Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex. Proceedings of the National Academy of Sciences of the United States of America. vol 118. issue 6. 2021-06-24. PMID:33536341. |
tuberous sclerosis complex (tsc) is caused by mutations in either tsc1 or tsc2 genes and affects multiple organs, including kidney, lung, and brain. |
2021-06-24 |
2023-08-13 |
mouse |
| Camilla Russo, Anna Nastro, Domenico Cicala, Maria De Liso, Eugenio Maria Covelli, Giuseppe Cinall. Neuroimaging in tuberous sclerosis complex. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 36. issue 10. 2021-06-21. PMID:32519125. |
tuberous sclerosis complex (tsc) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of tsc1 or tsc2 mtor pathway genes. |
2021-06-21 |
2023-08-13 |
Not clear |
| Lang He, Wei Ye, Zhao Chen, Xinling Meng, Hong Jian. Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 36. issue 9. 2021-06-21. PMID:32647919. |
identification of novel mutations in tsc1 and tsc2 for tuberous sclerosis complex by targeted next-generation sequencing and acmg guidelines. |
2021-06-21 |
2023-08-13 |
Not clear |
| Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, Shida Zhu, Feiqiu Wen, Jian Gu. Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology. 2021-06-19. PMID:34145886. |
single nucleotide variants were most frequently found in scn1a (10/95, 10.5%), which is associated with dravet syndrome, followed by prrt2 (8/95, 8.4%), which is associated with benign familial infantile epilepsy, and tsc2 (7/95, 7.4%), which is associated with tuberous sclerosis. |
2021-06-19 |
2023-08-13 |
Not clear |
| Debopam Samant. An Updated Review of Tuberous Sclerosis Complex-Associated Autism Spectrum Disorder. Pediatric neurology. vol 109. 2021-06-15. PMID:32563542. |
tuberous sclerosis complex (tsc) is a neurocutaneous disorder caused by mutations of either the tsc1 or tsc2 gene. |
2021-06-15 |
2023-08-13 |
Not clear |
| Yuping Niu, Sexin Huang, Peiwen Xu, Jie Li, Ming Gao, Xiaowei Chen, Hongxia Chu, Yuan Ga. [A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 38. issue 6. 2021-06-08. PMID:34096024. |
[a case of tuberous sclerosis complex due to a novel splicing variant of tsc2 gene]. |
2021-06-08 |
2023-08-13 |
Not clear |
| Nabila Haji, Ilse Riebe, Argel Aguilar-Valles, Julien Artinian, Isabel Laplante, Jean-Claude Lacaill. Tsc1 haploinsufficiency in Nkx2.1 cells upregulates hippocampal interneuron mTORC1 activity, impairs pyramidal cell synaptic inhibition, and alters contextual fear discrimination and spatial working memory in mice. Molecular autism. vol 11. issue 1. 2021-05-28. PMID:32375878. |
mutations in tsc1 or tsc2 genes cause tuberous sclerosis complex (tsc), a disorder associated with epilepsy, autism, and intellectual disability. |
2021-05-28 |
2023-08-13 |
mouse |
| Christian U Oeing, Taishi Nakamura, Shi Pan, Sumita Mishra, Brittany L Dunkerly-Eyring, Kristen M Kokkonen-Simon, Brian L Lin, Anna Chen, Guangshuo Zhu, Djahida Bedja, Dong Ik Lee, David A Kass, Mark J Rane. PKG1α Cysteine-42 Redox State Controls mTORC1 Activation in Pathological Cardiac Hypertrophy. Circulation research. vol 127. issue 4. 2021-05-21. PMID:32393148. |
stimulated pkg1α (protein kinase g-1α) phosphorylates tsc2 (tuberous sclerosis complex 2) at serine 1365, potently suppressing mtorc1 (mechanistic [mammalian] target of rapamycin complex 1) activation by neurohormonal and hemodynamic stress. |
2021-05-21 |
2023-08-13 |
Not clear |
| Xin Tang, Gabrielle Angst, Michael Haas, Fuchun Yang, Chenran Wan. The Characterization of a Subependymal Giant Astrocytoma-Like Cell Line from Murine Astrocyte with mTORC1 Hyperactivation. International journal of molecular sciences. vol 22. issue 8. 2021-05-12. PMID:33923449. |
tuberous sclerosis complex (tsc) is a genetic disorder caused by inactivating mutations in tsc1 (hamartin) or tsc2 (tuberin), crucial negative regulators of the mechanistic target of rapamycin complex 1 (mtorc1) signaling pathway. |
2021-05-12 |
2023-08-13 |
mouse |
| Mouna Triki, Gianmarco Rinaldi, Melanie Planque, Dorien Broekaert, Alina M Winkelkotte, Carina R Maier, Sudha Janaki Raman, Anke Vandekeere, Joke Van Elsen, Martin F Orth, Thomas G P Grünewald, Almut Schulze, Sarah-Maria Fend. mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis. Cell reports. vol 31. issue 12. 2021-04-28. PMID:32579932. |
accordingly, activating mtor signaling by deleting tuberous sclerosis complex 2 (tsc2) or overexpression of srebp-1/2 is sufficient to increase fads2 mrna expression and sapienate metabolism in mouse embryonic fibroblasts (mefs) and u87 glioblastoma cells, respectively. |
2021-04-28 |
2023-08-13 |
mouse |