All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
Yu Gao, Ronald B Gartenhaus, Rena G Lapidus, Arif Hussain, Yanting Zhang, Xinghuan Wang, Han C Da. Differential IKK/NF-κB Activity Is Mediated by TSC2 through mTORC1 in PTEN-Null Prostate Cancer and Tuberous Sclerosis Complex Tumor Cells. Molecular cancer research : MCR. vol 13. issue 12. 2016-10-05. PMID:26374334. it has been reported that akt activates mtor through phosphorylation and inhibition of the tuberous sclerosis complex (tsc) protein tsc2. 2016-10-05 2023-08-13 Not clear
Carles Giménez, Jonás Sarasa, César Arjona, Ester Vilamajó, Olga Martínez-Pasarell, Kenny Wheeler, Gemma Valls, Elena Garcia-Guixé, Dagan Well. Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology. Reproductive biomedicine online. vol 31. issue 6. 2016-09-30. PMID:26507283. preimplantation genetic diagnosis (pgd) was carried out for a couple carrying a de-novo deletion in the tsc2 gene, responsible for tuberous sclerosis. 2016-09-30 2023-08-13 Not clear
Liliana Santos, Iva Brcic, Georg Unterweger, Robert Riddell, Cord Langne. Hamartomatous polyposis in tuberous sclerosis complex: Case report and review of the literature. Pathology, research and practice. vol 211. issue 12. 2016-09-23. PMID:26493680. tuberous sclerosis complex (tsc) is a genetic disorder with multisystem involvement that is due to autosomal-dominantly inherited or sporadic mutations in tsc1 and tsc2 genes. 2016-09-23 2023-08-13 Not clear
Beth Crowell, Gum Hwa Lee, Ina Nikolaeva, Valentina Dal Pozzo, Gabriella D'Arcangel. Complex Neurological Phenotype in Mutant Mice Lacking Tsc2 in Excitatory Neurons of the Developing Forebrain(123). eNeuro. vol 2. issue 6. 2016-09-20. PMID:26693177. mutations in the tsc1 and tsc2 genes cause tuberous sclerosis complex (tsc), a genetic disease often associated with epilepsy, intellectual disability, and autism, and characterized by the presence of anatomical malformations in the brain as well as tumors in other organs. 2016-09-20 2023-08-13 mouse
Ho Tin Wong, Deborah L McCartney, Julia C Lewis, Julian R Sampson, Christopher J Howe, Petrus J de Vrie. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Journal of medical genetics. vol 52. issue 12. 2016-09-12. PMID:26408672. intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on tsc1 and tsc2 proteins. 2016-09-12 2023-08-13 Not clear
Ho Tin Wong, Deborah L McCartney, Julia C Lewis, Julian R Sampson, Christopher J Howe, Petrus J de Vrie. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Journal of medical genetics. vol 52. issue 12. 2016-09-12. PMID:26408672. tuberous sclerosis complex is a multisystem genetic disease, caused by mutation in the tsc1 or tsc2 genes, associated with many features, including intellectual disability (id). 2016-09-12 2023-08-13 Not clear
David J Kwiatkowski, Michael R Palmer, Sergiusz Jozwiak, John Bissler, David Franz, Scott Segal, David Chen, Julian R Sampso. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. European journal of human genetics : EJHG. vol 23. issue 12. 2016-08-24. PMID:25782670. tuberous sclerosis complex is an autosomal dominant disorder that occurs owing to inactivating mutations in either tsc1 or tsc2. 2016-08-24 2023-08-13 human
Maria M Alves, Gwenny M Fuhler, Karla C S Queiroz, Jetse Scholma, Susan Goorden, Jasper Anink, C Arnold Spek, Marianne Hoogeveen-Westerveld, Marco J Bruno, Mark Nellist, Ype Elgersma, Eleonora Aronica, Maikel P Peppelenbosc. PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex. Scientific reports. vol 5. 2016-08-19. PMID:26412398. tuberous sclerosis complex (tsc) is caused by inactivating mutations in either tsc1 or tsc2 and is characterized by uncontrolled mtorc1 activation. 2016-08-19 2023-08-13 mouse
Hui-Ping Lin, Ching-Yu Lin, Chieh Huo, Yee-Jee Jan, Jen-Chih Tseng, Shih Sheng Jiang, Ying-Yu Kuo, Shyh-Chang Chen, Chih-Ting Wang, Tzu-Min Chan, Jun-Yang Liou, John Wang, Wun-Shaing Wayne Chang, Chung-Ho Chang, Hsing-Jien Kung, Chih-Pin Chu. AKT3 promotes prostate cancer proliferation cells through regulation of Akt, B-Raf, and TSC1/TSC2. Oncotarget. vol 6. issue 29. 2016-08-15. PMID:26318033. overexpression of akt3 increased the protein expression of total akt, phospho-akt s473, phospho-akt t308, b-raf, c-myc, skp2, cyclin e, gsk3β, phospho-gsk3β s9, phospho-mtor s2448, and phospho-p70s6k t421/s424, but decreased tsc1 (tuberous sclerosis 1) and tsc2 (tuberous sclerosis complex 2) proteins in pc-3 pca cells. 2016-08-15 2023-08-13 human
Amira Alkharusi, Elena Lesma, Silvia Ancona, Eloisa Chiaramonte, Thomas Nyström, Alfredo Gorio, Gunnar Norsted. Role of Prolactin Receptors in Lymphangioleiomyomatosis. PloS one. vol 11. issue 1. 2016-07-26. PMID:26765535. pulmonary lymphangioleiomyomatosis (lam) is a rare lung disease caused by mutations in the tumor suppressor genes encoding tuberous sclerosis complex (tsc) 1 and tsc2. 2016-07-26 2023-08-13 mouse
Tania Campos, Javiera Ziehe, Francisco Fuentes-Villalobos, Orlando Riquelme, Daniela Peña, Rodrigo Troncoso, Sergio Lavandero, Violeta Morin, Roxana Pincheira, Ariel F Castr. Rapamycin requires AMPK activity and p27 expression for promoting autophagy-dependent Tsc2-null cell survival. Biochimica et biophysica acta. vol 1863. issue 6 Pt A. 2016-07-19. PMID:26975583. tuberous sclerosis complex (tsc) disease results from inactivation of the tsc1 or tsc2 gene, and is characterized by benign tumors in several organs. 2016-07-19 2023-08-13 Not clear
G Schmunk, B J Boubion, I F Smith, I Parker, J J Gargu. Shared functional defect in IP₃R-mediated calcium signaling in diverse monogenic autism syndromes. Translational psychiatry. vol 5. 2016-07-11. PMID:26393489. here, we report that patient-derived fibroblasts from three monogenic models of asd-fragile x and tuberous sclerosis tsc1 and tsc2 syndromes-display depressed ca(2+) release through inositol trisphosphate receptors (ip3rs). 2016-07-11 2023-08-13 Not clear
Ning Liang, Mario Pend. YAP enters the mTOR pathway to promote tuberous sclerosis complex. Molecular & cellular oncology. vol 2. issue 4. 2016-06-16. PMID:27308518. mutations in tuberous sclerosis complex 1 (tsc1) or tsc2 predispose to angiomyolipomas and lymphangioleiomyomatosis in a mtor-dependent manner. 2016-06-16 2023-08-13 Not clear
Neera Nathan, Magdalena E Tyburczy, Lana Hamieh, Ji-An Wang, G Thomas Brown, Chyi-Chia Richard Lee, David J Kwiatkowski, Joel Moss, Thomas N Darlin. Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex. The Journal of investigative dermatology. vol 136. issue 2. 2016-06-09. PMID:26824744. nipple angiofibromas with loss of tsc2 are associated with tuberous sclerosis complex. 2016-06-09 2023-08-13 Not clear
Alisson L da Rocha, Bruno C Pereira, José R Pauli, Claudio T de Souza, Giovana R Teixeira, Fábio S Lira, Dennys E Cintra, Eduardo R Ropelle, Carlos R B Júnior, Adelino S R da Silv. Downhill Running Excessive Training Inhibits Hypertrophy in Mice Skeletal Muscles with Different Fiber Type Composition. Journal of cellular physiology. vol 231. issue 5. 2016-06-07. PMID:26381504. for edl, otr/down decreased the protein kinase b (akt) and tuberous sclerosis protein 2 (tsc2) phosphorylation (p), and increased myostatin, receptor-activated smads (psmad2-3), and insulin receptor substrate-1 (pirs-1; ser307/636). 2016-06-07 2023-08-13 mouse
Benjamin E Housden, Alexander J Valvezan, Colleen Kelley, Richelle Sopko, Yanhui Hu, Charles Roesel, Shuailiang Lin, Michael Buckner, Rong Tao, Bahar Yilmazel, Stephanie E Mohr, Brendan D Manning, Norbert Perrimo. Identification of potential drug targets for tuberous sclerosis complex by synthetic screens combining CRISPR-based knockouts with RNAi. Science signaling. vol 8. issue 393. 2016-06-06. PMID:26350902. the tuberous sclerosis complex (tsc) family of tumor suppressors, tsc1 and tsc2, function together in an evolutionarily conserved protein complex that is a point of convergence for major cell signaling pathways that regulate mtor complex 1 (mtorc1). 2016-06-06 2023-08-13 human
Christian C Dibble, Lewis C Cantle. Regulation of mTORC1 by PI3K signaling. Trends in cell biology. vol 25. issue 9. 2016-06-03. PMID:26159692. we focus on how pi3k-dependent activation of akt and spatial regulation of the tuberous sclerosis complex (tsc) complex (tsc complex) [composed of tsc1, tsc2, and tre2-bub2-cdc16-1 domain family member 7 (tbc1d7)] switches on rheb at the lysosome, where mtorc1 is activated. 2016-06-03 2023-08-13 Not clear
Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowsk. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS genetics. vol 11. issue 11. 2016-06-03. PMID:26540169. tuberous sclerosis complex (tsc) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either tsc1 or tsc2. 2016-06-03 2023-08-13 human
Arindam P Ghosh, Christopher B Marshall, Tatjana Coric, Eun-Hee Shim, Richard Kirkman, Mary E Ballestas, Mitsuhiko Ikura, Mary-Ann Bjornsti, Sunil Sudarsha. Point mutations of the mTOR-RHEB pathway in renal cell carcinoma. Oncotarget. vol 6. issue 20. 2016-05-24. PMID:26255626. in vitro characterization of this rheb mutation revealed that this mutant showed considerable resistance to tsc2 (tuberous sclerosis 2) gap (gtpase activating protein) activity, though its interaction with tsc2 remained unaltered. 2016-05-24 2023-08-13 Not clear
Elena N Atochina-Vasserman, Elena Abramova, Melane L James, Ryan Rue, Amy Y Liu, Nathan Tessema Ersumo, Chang-Jiang Guo, Andrew J Gow, Vera P Krymskay. Pharmacological targeting of VEGFR signaling with axitinib inhibits Tsc2-null lesion growth in the mouse model of lymphangioleiomyomatosis. American journal of physiology. Lung cellular and molecular physiology. vol 309. issue 12. 2016-05-02. PMID:26432869. pulmonary lymphangioleiomyomatosis (lam), a rare progressive lung disease associated with mutations of the tuberous sclerosis complex 2 (tsc2) tumor suppressor gene, manifests by neoplastic growth of lam cells, induction of cystic lung destruction, and respiratory failure. 2016-05-02 2023-08-13 mouse