| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Barbara Ogórek, Hilaire C Lam, Damir Khabibullin, Heng-Jia Liu, Julie Nijmeh, Robinson Triboulet, David J Kwiatkowski, Richard I Gregory, Elizabeth P Hensk. TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β. Human molecular genetics. vol 27. issue 9. 2019-02-11. PMID:29509898. |
tuberous sclerosis complex (tsc) is an autosomal dominant disease caused by germline inactivating mutations of tsc1 or tsc2. |
2019-02-11 |
2023-08-13 |
Not clear |
| Ashley T Jones, Kalin Narov, Jian Yang, Julian R Sampson, Ming Hong She. Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2 Neoplasia (New York, N.Y.). vol 21. issue 2. 2019-02-11. PMID:30622053. |
efficacy of dual inhibition of glycolysis and glutaminolysis for therapy of renal lesions in tsc2 tuberous sclerosis is caused by mutations in the tsc1 or tsc2 gene and characterized by development of tumors in multiple organs including the kidneys. |
2019-02-11 |
2023-08-13 |
Not clear |
| G Chen, Q R Dong, M X Li, X M L. [The 467th case: proteinuria, periungual fibromas, and facial steatadenomas]. Zhonghua nei ke za zhi. vol 58. issue 1. 2019-01-21. PMID:30605956. |
gene tests verified tsc2 mutation and confirmed the diagnosis of tuberous sclerosis complex. |
2019-01-21 |
2023-08-13 |
Not clear |
| Dan Carlin, Judith P Golden, Amit Mogha, Vijay K Samineni, Kelly R Monk, Robert W Gereau, Valeria Cavall. Deletion of Tsc2 in Nociceptors Reduces Target Innervation, Ion Channel Expression, and Sensitivity to Heat. eNeuro. vol 5. issue 2. 2019-01-11. PMID:29766046. |
to address this, we genetically activated mtorc1 in mouse peripheral sensory neurons by conditional deletion of its negative regulator tuberous sclerosis complex 2 (tsc2). |
2019-01-11 |
2023-08-13 |
mouse |
| Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Anton. Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation. BMC cancer. vol 18. issue 1. 2019-01-10. PMID:29764404. |
eaml can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of tsc1 or tsc2 genes (critical negative regulators of mtor complex 1) result in an increased activation of mtor pathway. |
2019-01-10 |
2023-08-13 |
Not clear |
| Arnaud Jacquel, Frederic Luciano, Guillaume Robert, Patrick Auberge. Implication and Regulation of AMPK during Physiological and Pathological Myeloid Differentiation. International journal of molecular sciences. vol 19. issue 10. 2019-01-07. PMID:30274374. |
in addition, ampk inhibits the mtor pathway through phosphorylation and activation of tuberous sclerosis protein 2 (tsc2) and causes direct activation of unc-51-like autophagy activating kinase 1 (ulk1) via phosphorylation of ser555, thus promoting initiation of autophagy. |
2019-01-07 |
2023-08-13 |
Not clear |
| Kalpana Kumari, Mehar C Sharma, Aanchal Kakkar, Prit B Malgulwar, Pankaj Pathak, Vaishali Suri, Chitra Sarkar, Sarat P Chandra, Mohammed Faruq, Rakesh K Gupta, Ravindra K Sara. Role of mTOR signaling pathway in the pathogenesis of subependymal giant cell astrocytoma - A study of 28 cases. Neurology India. vol 64. issue 5. 2018-11-05. PMID:27625244. |
recent studies have shown that tuberous sclerosis complex (tsc) 1 and tsc2 genes are linked to the mammalian target of rapamycin (mtor) cell signaling pathway. |
2018-11-05 |
2023-08-13 |
Not clear |
| Meng-Na Zhang, Li-Ping Zou, Yang-Yang Wang, Ling-Yu Pang, Shu-Fang Ma, Lu-Lu Huang, Yang Gao, Qian Lu, David Neal Fran. Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis. Seizure. vol 60. 2018-10-15. PMID:29929111. |
tuberous sclerosis (tsc) is an autosomal dominant inherited disease caused by mutations in the tsc1 or tsc2 gene and results in the over-activation of the mammalian target of the rapamycin (mtor) signaling pathway. |
2018-10-15 |
2023-08-13 |
Not clear |
| P Guo, X Ma, W Zhao, W Huai, T Li, Y Qiu, Y Zhang, L Ha. TRIM31 is upregulated in hepatocellular carcinoma and promotes disease progression by inducing ubiquitination of TSC1-TSC2 complex. Oncogene. vol 37. issue 4. 2018-10-10. PMID:28967907. |
we further demonstrated that trim31 exerted its oncogenic effect by directly interacting with the tuberous sclerosis complex (tsc) 1 and tsc2 complex, the upstream suppressor of mtorc1 pathway, and promoting the e3 ligase-mediated k48-linked ubiquitination and degradation of this complex. |
2018-10-10 |
2023-08-13 |
Not clear |
| Angela Peron, Aglaia Vignoli, Francesca La Briola, Emanuela Morenghi, Lucia Tansini, Rosa Maria Alfano, Gaetano Bulfamante, Silvia Terraneo, Filippo Ghelma, Giuseppe Banderali, David H Viskochil, John C Carey, Maria Paola Canevin. Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. European journal of medical genetics. vol 61. issue 7. 2018-10-10. PMID:29432982. |
deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in tsc1 and tsc2. |
2018-10-10 |
2023-08-13 |
Not clear |
| Angela Peron, Aglaia Vignoli, Francesca La Briola, Emanuela Morenghi, Lucia Tansini, Rosa Maria Alfano, Gaetano Bulfamante, Silvia Terraneo, Filippo Ghelma, Giuseppe Banderali, David H Viskochil, John C Carey, Maria Paola Canevin. Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. European journal of medical genetics. vol 61. issue 7. 2018-10-10. PMID:29432982. |
tuberous sclerosis complex (tsc) is a multisystemic condition caused by mutations in tsc1 or tsc2, but a pathogenic variant is not identified in up to 10% of the patients. |
2018-10-10 |
2023-08-13 |
Not clear |
| Evgeny N Suspitsin, Grigoriy A Yanus, Marina Yu Dorofeeva, Tatiana A Ledashcheva, Nataliya V Nikitina, Galina V Buyanova, Elena V Saifullina, Anna P Sokolenko, Evgeny N Imyanito. Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis. Journal of human genetics. vol 63. issue 5. 2018-09-18. PMID:29476190. |
pattern of tsc1 and tsc2 germline mutations in russian patients with tuberous sclerosis. |
2018-09-18 |
2023-08-13 |
Not clear |
| Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraef. Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. Clinical EEG and neuroscience. vol 49. issue 3. 2018-09-13. PMID:28762286. |
tuberous sclerosis complex (tsc) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the tsc1 and tsc2 genes. |
2018-09-13 |
2023-08-13 |
Not clear |
| David L Kolin, Kai Duan, Bo Ngan, J Ted Gerstle, Monika K Krzyzanowska, Gino R Somers, Ozgur Met. Expanding the Spectrum of Colonic Manifestations in Tuberous Sclerosis: L-Cell Neuroendocrine Tumor Arising in the Background of Rectal PEComa. Endocrine pathology. vol 29. issue 1. 2018-08-27. PMID:28733877. |
neuroendocrine tumorigenesis in tuberous sclerosis is often linked to inactivating mutations of tsc2 leading to aberrant activation of mammalian target of rapamycin (mtor) pathway. |
2018-08-27 |
2023-08-13 |
Not clear |
| Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeirio. Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 22. issue 3. 2018-08-21. PMID:29500070. |
screening for tsc1 and tsc2 mutations using ngs in greek children with tuberous sclerosis syndrome. |
2018-08-21 |
2023-08-13 |
Not clear |
| Eraldo Fonseca Dos Santos Junior, Roberta Rodrigues de Lemos Gitirana, Darlene Paiva Bezerra, João Ricardo Mendes de Oliveir. Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model. Journal of molecular neuroscience : MN. vol 64. issue 1. 2018-08-13. PMID:29230685. |
tuberous sclerosis complex (tsc) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the tsc1 and tsc2 genes. |
2018-08-13 |
2023-08-13 |
Not clear |
| Daphne M Hasbani, Peter B Crin. Tuberous sclerosis complex. Handbook of clinical neurology. vol 148. 2018-08-10. PMID:29478616. |
tuberous sclerosis complex (tsc) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either tsc1 or tsc2. |
2018-08-10 |
2023-08-13 |
Not clear |
| Blanca E Himes, Kseniya Obraztsova, Lurong Lian, Maya Shumyatcher, Ryan Rue, Elena N Atochina-Vasserman, Stella K Hur, Marisa S Bartolomei, Jilly F Evans, Vera P Krymskay. Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. PloS one. vol 13. issue 5. 2018-07-31. PMID:29758070. |
lymphangioleiomyomatosis (lam) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (tsc2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the mechanistic target of rapamycin (mtorc1) signaling. |
2018-07-31 |
2023-08-13 |
mouse |
| Shan Gao, Zhiling Wang, Yongmei Xi. Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report. Medicine. vol 97. issue 29. 2018-07-30. PMID:30024541. |
two novel tsc2 mutations in pediatric patients with tuberous sclerosis complex: case report. |
2018-07-30 |
2023-08-13 |
Not clear |
| Chloë Scheldeman, James D Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M Iyer, Benjamin J Whalley, Jan Maes, Anna C Jansen, Lieven Lagae, Eleonora Aronica, Peter A M de Witt. mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis. Neurobiology of disease. vol 108. 2018-07-23. PMID:28888969. |
tuberous sclerosis complex (tsc) is a rare, genetic disease caused by loss-of-function mutations in either tsc1 or tsc2. |
2018-07-23 |
2023-08-13 |
zebrafish |