| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gorka Ruiz de Garibay, Carmen Herranz, Alicia Llorente, Jacopo Boni, Jordi Serra-Musach, Francesca Mateo, Helena Aguilar, Laia Gómez-Baldó, Anna Petit, August Vidal, Fina Climent, Javier Hernández-Losa, Álex Cordero, Eva González-Suárez, José Vicente Sánchez-Mut, Manel Esteller, Roger Llatjós, Mar Varela, José Ignacio López, Nadia García, Ana I Extremera, Anna Gumà, Raúl Ortega, María Jesús Plà, Adela Fernández, Sònia Pernas, Catalina Falo, Idoia Morilla, Miriam Campos, Miguel Gil, Antonio Román, María Molina-Molina, Piedad Ussetti, Rosalía Laporta, Claudia Valenzuela, Julio Ancochea, Antoni Xaubet, Álvaro Casanova, Miguel Angel Pujan. Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness. PloS one. vol 10. issue 7. 2016-04-25. PMID:26167915. |
lymphangioleiomyomatosis (lam) is a rare lung-metastasizing neoplasm caused by the proliferation of smooth muscle-like cells that commonly carry loss-of-function mutations in either the tuberous sclerosis complex 1 or 2 (tsc1 or tsc2) genes. |
2016-04-25 |
2023-08-13 |
Not clear |
| Yu Zhang, Jing Gan, Zheng Pu, Ming ming Xu, Li feng Wang, Yu hua Li, Zhen guo Li. TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. Neuromolecular medicine. vol 17. issue 2. 2016-04-21. PMID:25900779. |
tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of tsc1 and tsc2 genes. |
2016-04-21 |
2023-08-13 |
Not clear |
| Yu Zhang, Jing Gan, Zheng Pu, Ming ming Xu, Li feng Wang, Yu hua Li, Zhen guo Li. TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. Neuromolecular medicine. vol 17. issue 2. 2016-04-21. PMID:25900779. |
tuberous sclerosis complex presents diverse clinical characteristics, and either of tsc1 and tsc2 genes shows a wide range of mutations in their coding regions. |
2016-04-21 |
2023-08-13 |
Not clear |
| Anna R Malik, Ewa Liszewska, Agnieszka Skalecka, Malgorzata Urbanska, Anand M Iyer, Lukasz J Swiech, Malgorzata Perycz, Kamil Parobczak, Patrycja Pietruszka, Malgorzata M Zarebska, Matylda Macias, Katarzyna Kotulska, Julita Borkowska, Wieslawa Grajkowska, Magdalena E Tyburczy, Sergiusz Jozwiak, David J Kwiatkowski, Eleonora Aronica, Jacek Jaworsk. Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase. Acta neuropathologica communications. vol 3. 2016-04-21. PMID:26220190. |
tuberous sclerosis complex (tsc) is a genetic disease resulting from mutation in tsc1 or tsc2 and subsequent hyperactivation of mammalian target of rapamycin (mtor). |
2016-04-21 |
2023-08-13 |
Not clear |
| Hiroko Sugiura, Shin Yasuda, Shutaro Katsurabayashi, Hiroyuki Kawano, Kentaro Endo, Kotaro Takasaki, Katsunori Iwasaki, Masumi Ichikawa, Toshiyuki Kobayashi, Okio Hino, Kanato Yamagat. Rheb activation disrupts spine synapse formation through accumulation of syntenin in tuberous sclerosis complex. Nature communications. vol 6. 2016-04-05. PMID:25880340. |
rheb is a small gtp-binding protein and its gtpase activity is activated by the complex of tsc1 and tsc2 whose mutations cause tuberous sclerosis complex (tsc). |
2016-04-05 |
2023-08-13 |
Not clear |
| Angelika Mühlebner, Anand M Iyer, Jackelien van Scheppingen, Jasper J Anink, Floor E Jansen, Tim J Veersema, Kees P Braun, Wim G M Spliet, Wim van Hecke, Figen Söylemezoğlu, Martha Feucht, Pavel Krsek, Josef Zamecnik, Christian G Bien, Tilman Polster, Roland Coras, Ingmar Blümcke, Eleonora Aronic. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression. Journal of neurodevelopmental disorders. vol 8. 2016-04-04. PMID:27042238. |
tuberous sclerosis complex (tsc) is a multisystem disorder that results from mutations in the tsc1 or tsc2 genes, leading to constitutive activation of the mammalian target of rapamycin (mtor) signaling pathway. |
2016-04-04 |
2023-08-13 |
Not clear |
| Tanjala T Gipson, Gwendolyn Gerner, Siddharth Srivastava, Andrea Poretti, Rebecca Vaurio, Adam Hartman, Michael V Johnsto. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Pediatric neurology. vol 51. issue 3. 2016-03-31. PMID:25160545. |
infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in tsc1 or tsc2, are at increased risk for intellectual disability and/or autism. |
2016-03-31 |
2023-08-13 |
Not clear |
| Lily H Tran, Mary L Zupan. Long-Term Everolimus Treatment in Individuals With Tuberous Sclerosis Complex: A Review of the Current Literature. Pediatric neurology. vol 53. issue 1. 2016-03-28. PMID:26092412. |
tuberous sclerosis complex is a genetic disease usually caused by mutations to either tsc1 or tsc2, where its gene products are involved in the inhibition of the mammalian target of rapamycin pathway. |
2016-03-28 |
2023-08-13 |
Not clear |
| Fang Fang, Shaogang Sun, Li Wang, Jun-Lin Guan, Marco Giovannini, Yuan Zhu, Fei Li. Neural Crest-Specific TSC1 Deletion in Mice Leads to Sclerotic Craniofacial Bone Lesion. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. vol 30. issue 7. 2016-03-25. PMID:25639352. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations in either tsc1 or tsc2. |
2016-03-25 |
2023-08-13 |
mouse |
| Anurag Saxena, Julian R Sampso. Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments. Seminars in neurology. vol 35. issue 3. 2016-02-25. PMID:26060906. |
mutations in the tsc1 and tsc2 genes that cause tuberous sclerosis lead to hyperactivation of signaling via the mammalian target of rapamycin complex 1 (mtorc1). |
2016-02-25 |
2023-08-13 |
Not clear |
| Zhongdong Hu, Ying Wang, Fuqiang Huang, Rongrong Chen, Chunjia Li, Fang Wang, June Goto, David J Kwiatkowski, Joanna Wdzieczak-Bakala, Pengfei Tu, Jianmiao Liu, Xiaojun Zha, Hongbing Zhan. Brain-expressed X-linked 2 Is Pivotal for Hyperactive Mechanistic Target of Rapamycin (mTOR)-mediated Tumorigenesis. The Journal of biological chemistry. vol 290. issue 42. 2016-02-16. PMID:26296882. |
furthermore, bex2 was also increased in the liver of a hepatic specific pten knock-out mouse and the kidneys of tsc2 heterozygous deletion mice, and a patient with tuberous sclerosis complex (tsc). |
2016-02-16 |
2023-08-13 |
mouse |
| Yoshitaka Ito, Haruna Kawano, Fumio Kanai, Eri Nakamura, Norihiro Tada, Setsuo Takai, Shigeo Horie, Hajime Arai, Toshiyuki Kobayashi, Okio Hin. Establishment of Tsc2‑deficient rat embryonic stem cells. International journal of oncology. vol 46. issue 5. 2016-02-04. PMID:25738543. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by tsc1 or tsc2 mutations. |
2016-02-04 |
2023-08-13 |
rat |
| Jarrett D Leech, Stephen H T Lammers, Sam Goldman, Neil Auricchio, Roderick T Bronson, David J Kwiatkowski, Mustafa Sahi. A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Molecular cancer research : MCR. vol 13. issue 3. 2016-02-01. PMID:25548102. |
tuberous sclerosis complex (tsc) is an autosomal disease caused by inactivating mutations in either of the tumor suppressor genes tsc1 or tsc2. |
2016-02-01 |
2023-08-13 |
mouse |
| Hung Huynh, Huai-Xiang Hao, Stephen L Chan, David Chen, Richard Ong, Khee Chee Soo, Panisa Pochanard, David Yang, David Ruddy, Manway Liu, Adnan Derti, Marissa N Balak, Michael R Palmer, Yan Wang, Benjamin H Lee, Dalila Sellami, Andrew X Zhu, Robert Schlegel, Alan Huan. Loss of Tuberous Sclerosis Complex 2 (TSC2) Is Frequent in Hepatocellular Carcinoma and Predicts Response to mTORC1 Inhibitor Everolimus. Molecular cancer therapeutics. vol 14. issue 5. 2016-02-01. PMID:25724664. |
loss of tuberous sclerosis complex 2 (tsc2) is frequent in hepatocellular carcinoma and predicts response to mtorc1 inhibitor everolimus. |
2016-02-01 |
2023-08-13 |
Not clear |
| Hung Huynh, Huai-Xiang Hao, Stephen L Chan, David Chen, Richard Ong, Khee Chee Soo, Panisa Pochanard, David Yang, David Ruddy, Manway Liu, Adnan Derti, Marissa N Balak, Michael R Palmer, Yan Wang, Benjamin H Lee, Dalila Sellami, Andrew X Zhu, Robert Schlegel, Alan Huan. Loss of Tuberous Sclerosis Complex 2 (TSC2) Is Frequent in Hepatocellular Carcinoma and Predicts Response to mTORC1 Inhibitor Everolimus. Molecular cancer therapeutics. vol 14. issue 5. 2016-02-01. PMID:25724664. |
tuberous sclerosis complex (tsc), a heterodimer of tsc1 and tsc2, functions as a negative regulator of mtor signaling. |
2016-02-01 |
2023-08-13 |
Not clear |
| Myungjin Kim, Jun Hee Le. Identification of an AMPK phosphorylation site in Drosophila TSC2 (gigas) that regulate cell growth. International journal of molecular sciences. vol 16. issue 4. 2016-01-04. PMID:25826530. |
one of the ampk substrates, tuberous sclerosis complex 2 (tsc2), was suggested to mediate ampk-induced silencing of mtor complex 1 (mtorc1) signaling that is critical for cell growth. |
2016-01-04 |
2023-08-13 |
drosophila_melanogaster |
| Qing Liu, Yan Huang, Mingrong Zhang, Lian Qing Wang, Xia Nan Guo, Nuo Si, Zhan Qi, Xiang Qin Zhou, Li-ying Cu. Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis. Journal of child neurology. vol 30. issue 5. 2015-12-29. PMID:24789117. |
mutations in the 2 large genes tsc1 and tsc2 have been demonstrated to be associated with tuberous sclerosis complex by various mutation screening methods. |
2015-12-29 |
2023-08-13 |
Not clear |
| Qing Liu, Yan Huang, Mingrong Zhang, Lian Qing Wang, Xia Nan Guo, Nuo Si, Zhan Qi, Xiang Qin Zhou, Li-ying Cu. Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis. Journal of child neurology. vol 30. issue 5. 2015-12-29. PMID:24789117. |
two de novo and 1 recurrent tsc2 mutation in patients with tuberous sclerosis complex were revealed. |
2015-12-29 |
2023-08-13 |
Not clear |
| Peter B Crin. mTOR signaling in epilepsy: insights from malformations of cortical development. Cold Spring Harbor perspectives in medicine. vol 5. issue 4. 2015-12-29. PMID:25833943. |
mutations in mtor regulatory genes (e.g., tsc1, tsc2, akt3, depdc5) have been associated with several focal mcd highly associated with epilepsy such as tuberous sclerosis complex (tsc), hemimegalencephaly (hme; brain malformation associated with dramatic enlargement of one brain hemisphere), and cortical dysplasia. |
2015-12-29 |
2023-08-13 |
Not clear |
| Matthildi Valianou, Andrew M Cox, Benjamin Pichette, Shannon Hartley, Unmesha Roy Paladhi, Aristotelis Astrinidi. Pharmacological inhibition of Polo-like kinase 1 (PLK1) by BI-2536 decreases the viability and survival of hamartin and tuberin deficient cells via induction of apoptosis and attenuation of autophagy. Cell cycle (Georgetown, Tex.). vol 14. issue 3. 2015-12-02. PMID:25565629. |
mtorc1 is negatively regulated by hamartin and tuberin, the protein products of the tumor suppressors tsc1 and tsc2 that are mutated in tuberous sclerosis complex (tsc) and sporadic lymphangioleiomyomatosis (lam). |
2015-12-02 |
2023-08-13 |
Not clear |