| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Won Seop Ki. Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis. Korean journal of pediatrics. vol 54. issue 6. 2011-11-10. PMID:21949518. |
tuberous sclerosis complex (tsc) is a genetic multisystem disorder that results from mutations in the tsc1 or tsc2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. |
2011-11-10 |
2023-08-12 |
Not clear |
| Anna Schönberger, Eva Gembe, Alexander Grote, Juri-A Witt, Christian E Elger, Christian G Bien, Horst Urbach, Albert J Becker, Pitt Niehusman. Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy. Epilepsy & behavior : E&B. vol 21. issue 3. 2011-10-27. PMID:21555252. |
germline mutations of tsc1 (harmartin) and tsc2 (tuberin) are known to cause tuberous sclerosis (tsc), an autosomal dominant disorder with severe neurological and systemic manifestations. |
2011-10-27 |
2023-08-12 |
Not clear |
| Cristina Cabrera López, Teresa Martí, Violeta Catalá, Ferrán Torres, Silvia Mateu, Jose Ballarín Castán, Roser Torra Balcell. Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. vol 31. issue 3. 2011-10-04. PMID:21629335. |
tuberous sclerosis (ts) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (tsc1 and tsc2) that cause tumours (angiomyolipomas [aml], angiofibromas, astrocytomas). |
2011-10-04 |
2023-08-12 |
Not clear |
| Filippo Spreafico, Lucia Dora Notarangelo, Richard Fabian Schumacher, Gianfranco Savoldi, Beatrice Gamba, Monica Terenziani, Paola Collini, Silvia Fasoli, Lucio Giordano, Bercich Luisa, Fulvio Porta, Maura Massimino, Paolo Radice, Daniela Perott. Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex. American journal of medical genetics. Part A. vol 155A. issue 6. 2011-09-20. PMID:21567926. |
we report on a girl affected with tuberous sclerosis, carrying a germline de novo tsc2 mutation, c.4934-4935deltt, leading to a p.f1645cfsx7, who developed a unilateral wilms tumor (wt). |
2011-09-20 |
2023-08-12 |
Not clear |
| Elena A Goncharova, Dmitry A Goncharov, Hua Li, Wittaya Pimtong, Stephen Lu, Irene Khavin, Vera P Krymskay. mTORC2 is required for proliferation and survival of TSC2-null cells. Molecular and cellular biology. vol 31. issue 12. 2011-09-06. PMID:21482669. |
mutational inactivation of the tumor suppressor tuberous sclerosis complex 2 (tsc2) constitutively activates mtorc1, increases cell proliferation, and induces the pathological manifestations observed in tuberous sclerosis (ts) and in pulmonary lymphangioleiomyomatosis (lam). |
2011-09-06 |
2023-08-12 |
Not clear |
| Mitsunori Miyazaki, John J McCarthy, Mark J Fedele, Karyn A Esse. Early activation of mTORC1 signalling in response to mechanical overload is independent of phosphoinositide 3-kinase/Akt signalling. The Journal of physiology. vol 589. issue Pt 7. 2011-08-24. PMID:21300751. |
in contrast, akt activity, as assessed by akt phosphorylation status (t308 and s473), phosphorylation of direct downstream targets (glycogen synthase kinase 3 β, proline-rich akt substrate 40 kda and tuberous sclerosis 2 (tsc2)) and a kinase assay, was not significantly increased until 2–3 days of overload. |
2011-08-24 |
2023-08-12 |
Not clear |
| Helen S Bateup, Kevin T Takasaki, Jessica L Saulnier, Cassandra L Denefrio, Bernardo L Sabatin. Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 31. issue 24. 2011-08-22. PMID:21677170. |
the autism spectrum disorder tuberous sclerosis complex (tsc) is caused by mutations in the tsc1 or tsc2 genes, whose protein products form a heterodimeric complex that negatively regulates mammalian target of rapamycin-dependent protein translation. |
2011-08-22 |
2023-08-12 |
mouse |
| Nicole A Neuman, Elizabeth Petri Hensk. Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis. EMBO molecular medicine. vol 3. issue 4. 2011-08-05. PMID:21412983. |
the protein products of the tuberous sclerosis complex (tsc) genes, tsc1 and tsc2, form a complex, which inhibits the small g-protein, ras homolog enriched in brain (rheb). |
2011-08-05 |
2023-08-12 |
Not clear |
| Shaowei Li, Rajesh L Thangapazham, Ji-An Wang, Sangeetha Rajesh, Tzu-Cheg Kao, Leonard Sperling, Joel Moss, Thomas N Darlin. Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis. Nature communications. vol 2. 2011-08-01. PMID:21407201. |
in the tuberous sclerosis complex (tsc), hamartomas develop in multiple organs because of mutations in tsc1 or tsc2. |
2011-08-01 |
2023-08-12 |
human |
| Jeremiah N Winter, Leonard S Jefferson, Scot R Kimbal. ERK and Akt signaling pathways function through parallel mechanisms to promote mTORC1 signaling. American journal of physiology. Cell physiology. vol 300. issue 5. 2011-07-26. PMID:21289294. |
previous studies have shown that, in part, akt and erk promote mtorc1 signaling through phosphorylation of a gtpase activator protein (gap), referred to as tuberous sclerosis complex 2 (tsc2), that acts as an upstream inhibitor of mtorc1. |
2011-07-26 |
2023-08-12 |
Not clear |
| Marianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David Kwiatkowski, Julian Sampson, Concha Vidales, Jacinta Dzarir, Javier Garcia-Planells, Kira Dies, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellis. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Human mutation. vol 32. issue 4. 2011-07-22. PMID:21309039. |
functional assessment of variants in the tsc1 and tsc2 genes identified in individuals with tuberous sclerosis complex. |
2011-07-22 |
2023-08-12 |
Not clear |
| Marianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David Kwiatkowski, Julian Sampson, Concha Vidales, Jacinta Dzarir, Javier Garcia-Planells, Kira Dies, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellis. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Human mutation. vol 32. issue 4. 2011-07-22. PMID:21309039. |
we have used this strategy to characterize variants identified in the tsc1 and tsc2 genes in individuals with, or suspected of having, tuberous sclerosis complex (tsc). |
2011-07-22 |
2023-08-12 |
Not clear |
| Ling-Hui Zeng, Nicholas R Rensing, Bo Zhang, David H Gutmann, Michael J Gambello, Michael Won. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. Human molecular genetics. vol 20. issue 3. 2011-07-19. PMID:21062901. |
tsc2 gene inactivation causes a more severe epilepsy phenotype than tsc1 inactivation in a mouse model of tuberous sclerosis complex. |
2011-07-19 |
2023-08-12 |
mouse |
| Shouwei Han, Ying Zheng, Jesse Roma. Rosiglitazone, an Agonist of PPARgamma, Inhibits Non-Small Cell Carcinoma Cell Proliferation In Part through Activation of Tumor Sclerosis Complex-2. PPAR research. vol 2007. 2011-07-14. PMID:17597835. |
we set out to test the hypothesis that ppargamma ligands activate tuberous sclerosis complex-2 (tsc2), a tumor suppressor gene that inhibits mtor signaling. |
2011-07-14 |
2023-08-12 |
Not clear |
| Valerio Napolioni, Paolo Curatol. Genetics and molecular biology of tuberous sclerosis complex. Current genomics. vol 9. issue 7. 2011-07-14. PMID:19506736. |
tuberous sclerosis complex is genetically determined with an autosomal dominant inheritance and is caused by inactivating mutations in either the tsc1 or tsc2 genes. |
2011-07-14 |
2023-08-12 |
Not clear |
| Lidia Larizza, Pietro Mortini, Paola Riv. Update on the cytogenetics and molecular genetics of chordoma. Hereditary cancer in clinical practice. vol 3. issue 1. 2011-07-14. PMID:20223027. |
the role in chordomagenesis of the tuberous sclerosis complex (tsc) genes has been proved, but the extent of involvement of tsc1 and tsc2 oncosuppressors in chordoma remains to be assessed. |
2011-07-14 |
2023-08-12 |
Not clear |
| Aleksandra Tołoczko-Grabarek, Andrzej Sikorski, Marek Brzosko, Jan Lubińsk. Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Renal Cancer. Hereditary cancer in clinical practice. vol 3. issue 3. 2011-07-14. PMID:20223038. |
although to date there are 19 hereditary syndromes described in which renal cell cancer may occur, only four syndromes with an unequivocal genetic predisposition to renal cell carcinoma have been identified: vhl syndrome (mutations in the vhl gene), hereditary clear cell carcinoma (translocations t(3:8), t(2:3)), hereditary papillary carcinoma (mutations in the met protooncogene) and tuberous sclerosis (mutations in the tsc1 and tsc2 genes). |
2011-07-14 |
2023-08-12 |
Not clear |
| Saeed Ahmed, Ikram Burney, Sukhpal Sawhney, Mansour S Al-Moundhr. Gastric Adenocarcinoma in Association with Tuberous Sclerosis: Case report. Sultan Qaboos University medical journal. vol 9. issue 1. 2011-07-14. PMID:21509279. |
it is caused by mutations on either of two genes, tuberous sclerosis genes, tsc1 or tsc2, which encode for the proteins hamartin and tuberin respectively. |
2011-07-14 |
2023-08-12 |
Not clear |
| Kevin C Es. Tuberous sclerosis complex: everything old is new again. Journal of neurodevelopmental disorders. vol 1. issue 2. 2011-07-14. PMID:21547713. |
tuberous sclerosis complex (tsc) is a multiorgan genetic disease caused by loss of function of either the tsc1 (encodes hamartin) or tsc2 (encodes tuberin) genes. |
2011-07-14 |
2023-08-12 |
Not clear |
| François Vigneron, Pierre Dos Santos, Sandrine Lemoine, Maryline Bonnet, Liliane Tariosse, Thierry Couffinhal, Cécile Duplaà, Béatrice Jaspard-Vinass. GSK-3β at the crossroads in the signalling of heart preconditioning: implication of mTOR and Wnt pathways. Cardiovascular research. vol 90. issue 1. 2011-07-11. PMID:21233250. |
a downstream target might be mammalian target of rapamycin (mtor) since wnt can impair tuberous sclerosis complex-2 (tsc2) phosphorylation by inhibiting gsk-3β. |
2011-07-11 |
2023-08-12 |
Not clear |