| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Barbara Ogórek, Lana Hamieh, Hanna M Hulshof, Kathryn Lasseter, Katarzyna Klonowska, Hugo Kuijf, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Pavel Krsek, Rima Nabbout, Anna C Jansen, Barbora Benova, Eleonora Aronica, Lieven Lagae, Paolo Curatolo, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska-Pakieła, Stef Janson, Piotr Kozlowski, Malgorzata Urbanska, Jacek Jaworski, Sergiusz Jozwiak, Floor E Jansen, Katarzyna Kotulska, David J Kwiatkowsk. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 9. 2021-04-27. PMID:32461669. |
to perform comprehensive genotyping of tsc1 and tsc2 in a cohort of 94 infants with tuberous sclerosis complex (tsc) and correlate with clinical manifestations. |
2021-04-27 |
2023-08-13 |
Not clear |
| Kailash Ramlaul, Wencheng Fu, Hua Li, Natàlia de Martin Garrido, Lin He, Manjari Trivedi, Wei Cui, Christopher H S Aylett, Geng W. Architecture of the Tuberous Sclerosis Protein Complex. Journal of molecular biology. vol 433. issue 2. 2021-04-26. PMID:33307091. |
the tuberous sclerosis complex (tsc) protein complex (tscc), comprising tsc1, tsc2, and tbc1d7, is widely recognised as a key integration hub for cell growth and intracellular stress signals upstream of the mammalian target of rapamycin complex 1 (mtorc1). |
2021-04-26 |
2023-08-13 |
human |
| Kailash Ramlaul, Wencheng Fu, Hua Li, Natàlia de Martin Garrido, Lin He, Manjari Trivedi, Wei Cui, Christopher H S Aylett, Geng W. Architecture of the Tuberous Sclerosis Protein Complex. Journal of molecular biology. vol 433. issue 2. 2021-04-26. PMID:33307091. |
both human tsc1 and tsc2 are important tumour suppressors, and mutations in them underlie the disease tuberous sclerosis. |
2021-04-26 |
2023-08-13 |
human |
| Larissa Brussa Reis, Eduardo C Filippi-Chiela, Patricia Ashton-Prolla, Fernanda Visioli, Clévia Rosse. The paradox of autophagy in Tuberous Sclerosis Complex. Genetics and molecular biology. vol 44. issue 2. 2021-04-16. PMID:33821877. |
tuberous sclerosis complex (tsc) is an autosomal dominant genetic disorder caused by germline mutations in tsc1 or tsc2 genes, which leads to the hyperactivation of the mtorc1 pathway, an important negative regulator of autophagy. |
2021-04-16 |
2023-08-13 |
Not clear |
| Oriana Clasen, Justine Hussong, Catharina Wagner, Marina Flotats-Bastardas, Sascha Meyer, Michael Zemlin, Alexander von Gontar. Incontinence in persons with tuberous sclerosis complex. Neurourology and urodynamics. vol 39. issue 6. 2021-04-01. PMID:32542759. |
tuberous sclerosis complex (tsc) is a multisystem genetic disorder caused by a mutation in the tsc1 or tsc2 gene with a broad spectrum of physical and psychological manifestations. |
2021-04-01 |
2023-08-13 |
Not clear |
| Seishu Gen, Yu Matsumoto, Ken-Ichi Kobayashi, Tsukasa Suzuki, Jun Inoue, Yuji Yamamot. Stability of tuberous sclerosis complex 2 is controlled by methylation at R1457 and R1459. Scientific reports. vol 10. issue 1. 2021-03-16. PMID:33273660. |
mutations in genes that encode components of tuberous sclerosis complex 2 (tsc2) are associated with tuberous sclerosis complex disease. |
2021-03-16 |
2023-08-13 |
Not clear |
| Seishu Gen, Yu Matsumoto, Ken-Ichi Kobayashi, Tsukasa Suzuki, Jun Inoue, Yuji Yamamot. Stability of tuberous sclerosis complex 2 is controlled by methylation at R1457 and R1459. Scientific reports. vol 10. issue 1. 2021-03-16. PMID:33273660. |
tsc2 interacts with tuberous sclerosis complex 1 to form a complex that negatively regulates cell growth and proliferation via the inactivation of mechanistic target of rapamycin complex 1. |
2021-03-16 |
2023-08-13 |
Not clear |