| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Takuo Hayashi, Kengo Koike, Toshio Kumasaka, Tsuyoshi Saito, Keiko Mitani, Yasuhisa Terao, Daiki Ogishima, Takashi Yao, Satoru Takeda, Kazuhisa Takahashi, Kuniaki Seyam. Uterine angiosarcoma associated with lymphangioleiomyomatosis in a patient with tuberous sclerosis complex: an autopsy case report with immunohistochemical and genetic analysis. Human pathology. vol 43. issue 10. 2012-11-29. PMID:22748302. |
a 41-year-old woman carrying a germline tuberous sclerosis complex 2 (tsc2) mutation, whose regular medical follow-up for tuberous sclerosis complex and tuberous sclerosis complex-associated lymphangioleiomyomatosis had continued for 2 years, had uterine angiosarcoma concomitant with uterine lymphangioleiomyomatosis. |
2012-11-29 |
2023-08-12 |
Not clear |
| Timo Kirschstei. Synaptic plasticity and learning in animal models of tuberous sclerosis complex. Neural plasticity. vol 2012. 2012-11-20. PMID:22848848. |
tuberous sclerosis complex (tsc) is caused by a mutation of either the tsc1 or tsc2 gene. |
2012-11-20 |
2023-08-12 |
Not clear |
| Sangyeul Han, Sun Kim, Samira Bahl, Lin Li, Clara F Burande, Nicole Smith, Marianne James, Roberta L Beauchamp, Pradeep Bhide, Aaron DiAntonio, Vijaya Rames. The E3 ubiquitin ligase protein associated with Myc (Pam) regulates mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling in vivo through N- and C-terminal domains. The Journal of biological chemistry. vol 287. issue 36. 2012-11-19. PMID:22798074. |
our earlier studies identified pam to be associated with tuberous sclerosis complex (tsc) proteins, ubiquitinating tsc2 and regulating mammalian/mechanistic target of rapamycin (mtor) signaling. |
2012-11-19 |
2023-08-12 |
mouse |
| Eric A Armour, Robert P Carson, Kevin C Es. Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules. American journal of physiology. Renal physiology. vol 303. issue 4. 2012-11-06. PMID:22674026. |
tuberous sclerosis complex (tsc) is a multiorgan hamartomatous disease caused by loss of function mutations of either the tsc1 or tsc2 genes. |
2012-11-06 |
2023-08-12 |
mouse |
| Peter T Tsai, Court Hull, YunXiang Chu, Emily Greene-Colozzi, Abbey R Sadowski, Jarrett M Leech, Jason Steinberg, Jacqueline N Crawley, Wade G Regehr, Mustafa Sahi. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. vol 488. issue 7413. 2012-10-11. PMID:22763451. |
tuberous sclerosis complex (tsc) is a genetic disorder with high rates of comorbid asds that result from mutation of either tsc1 or tsc2, whose protein products dimerize and negatively regulate mammalian target of rapamycin (mtor) signalling. |
2012-10-11 |
2023-08-12 |
mouse |
| Brian Dimitroff, Katie Howe, Adrienne Watson, Bridget Campion, Hyun-Gwan Lee, Na Zhao, Michael B O'Connor, Thomas P Neufeld, Scott B Sellec. Diet and energy-sensing inputs affect TorC1-mediated axon misrouting but not TorC2-directed synapse growth in a Drosophila model of tuberous sclerosis. PloS one. vol 7. issue 2. 2012-09-24. PMID:22319582. |
hyperactivation of the tor pathway by mutations in the upstream tor inhibitors tsc1 (tuberous sclerosis complex 1) or tsc2 promotes benign tumors and neurological and behavioral deficits, a syndrome known as tuberous sclerosis (ts). |
2012-09-24 |
2023-08-12 |
drosophila_melanogaster |
| Aristea S Galanopoulou, Jan A Gorter, Carlos Ceped. Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target. Epilepsia. vol 53. issue 7. 2012-09-14. PMID:22578218. |
these include tuberous sclerosis, which is due to mutations in tsc1 or tsc2 genes; mutations in phosphatase and tensin homolog (pten) as in cowden syndrome, polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (pmse) due to mutations in the ste20-related kinase adaptor alpha (stradalpha); and neurofibromatosis type 1 attributed to neurofibromin 1 mutations. |
2012-09-14 |
2023-08-12 |
mouse |
| Mi-Ae Jang, Seung Bong Hong, Jee Hun Lee, Mun Hyang Lee, Man Pyo Chung, Hyung-Jin Shin, Jong-Won Kim, Chang-Seok K. Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex. Pediatric neurology. vol 46. issue 4. 2012-08-08. PMID:22490766. |
identification of tsc1 and tsc2 mutations in korean patients with tuberous sclerosis complex. |
2012-08-08 |
2023-08-12 |
Not clear |
| Mi-Ae Jang, Seung Bong Hong, Jee Hun Lee, Mun Hyang Lee, Man Pyo Chung, Hyung-Jin Shin, Jong-Won Kim, Chang-Seok K. Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex. Pediatric neurology. vol 46. issue 4. 2012-08-08. PMID:22490766. |
tuberous sclerosis complex is a genetic disorder caused by mutations in the genes tsc1 or tsc2. |
2012-08-08 |
2023-08-12 |
Not clear |
| M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland, A Maat-Kievi. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. Clinical genetics. vol 81. issue 5. 2012-08-07. PMID:21332470. |
functional characterization of the tsc2 c.3598c>t (p.r1200w) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. |
2012-08-07 |
2023-08-12 |
Not clear |
| M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland, A Maat-Kievi. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. Clinical genetics. vol 81. issue 5. 2012-08-07. PMID:21332470. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the tsc1 and tsc2 genes. |
2012-08-07 |
2023-08-12 |
Not clear |
| David M Feliciano, Jennifer L Quon, Tiffany Su, M Morgan Taylor, Angélique Borde. Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion. Human molecular genetics. vol 21. issue 4. 2012-07-09. PMID:22068588. |
neurological symptoms in tuberous sclerosis complex (tsc) and associated brain lesions are thought to arise from abnormal embryonic neurogenesis due to inherited mutations in tsc1 or tsc2. |
2012-07-09 |
2023-08-12 |
mouse |
| Christiane Fuchs, Margit Rosner, Helmut Dolznig, Mario Mikula, Nina Kramer, Markus Hengstschläge. Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation. Human molecular genetics. vol 21. issue 5. 2012-07-05. PMID:22090422. |
here, we report that sirna-mediated knockdown of the endogenous tuberous sclerosis complex-2 (tsc2) gene product tuberin or of proline-rich akt substrate of 40 kda (pras40), the two major negative regulators of mammalian target of rapamycin (mtor), leads to massive apoptotic cell death during eb development of human afs cells without affecting the endodermal, mesodermal and ectodermal cell differentiation spectrum. |
2012-07-05 |
2023-08-12 |
human |
| Neil Auricchio, Izabela Malinowska, Reuben Shaw, Brendan D Manning, David J Kwiatkowsk. Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). PloS one. vol 7. issue 2. 2012-06-29. PMID:22363765. |
tuberous sclerosis complex (tsc) is a human genetic disorder in which loss of either tsc1 or tsc2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal. |
2012-06-29 |
2023-08-12 |
mouse |
| Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson, Steven P Sparagana, Peter Davies, Cora Aalfs, Ans van den Ouweland, Dicky Halley, Mark Nellis. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Human mutation. vol 33. issue 3. 2012-06-08. PMID:22161988. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations in the tsc1 or tsc2 genes. |
2012-06-08 |
2023-08-12 |
Not clear |
| Pei Wang, Yun-Feng Guan, Hui Du, Qi-Wei Zhai, Ding-Feng Su, Chao-Yu Mia. Induction of autophagy contributes to the neuroprotection of nicotinamide phosphoribosyltransferase in cerebral ischemia. Autophagy. vol 8. issue 1. 2012-06-06. PMID:22113203. |
immunochemistry (lc3-ii), electron microscope and immunoblotting assays (lc3-ii, beclin-1, mammalian target of rapamycin [mtor], s6k1 and tuberous sclerosis complex-2 [tsc2]) were performed to assess autophagy. |
2012-06-06 |
2023-08-12 |
rat |
| Victoria Makovski, Roni Haklai, Yoel Kloo. Farnesylthiosalicylic acid (salirasib) inhibits Rheb in TSC2-null ELT3 cells: a potential treatment for lymphangioleiomyomatosis. International journal of cancer. vol 130. issue 6. 2012-06-01. PMID:21500191. |
ras also regulates rheb by inactivating the tuberous sclerosis complex (tsc), which includes products of the tsc1 and tsc2 genes encoding hamartin (tsc1) and tuberin (tsc2), respectively, and acts as a rheb-specific gtpase-activating protein. |
2012-06-01 |
2023-08-12 |
Not clear |
| Victoria Makovski, Roni Haklai, Yoel Kloo. Farnesylthiosalicylic acid (salirasib) inhibits Rheb in TSC2-null ELT3 cells: a potential treatment for lymphangioleiomyomatosis. International journal of cancer. vol 130. issue 6. 2012-06-01. PMID:21500191. |
loss of function of tsc1 or tsc2 results in an increase in active rheb.gtp with the consequent translational abnormalities and excessive cell proliferation characteristic of the genetic disorders, tuberous sclerosis and lymphangioleiomyomatosis (lam). |
2012-06-01 |
2023-08-12 |
Not clear |
| Wei Chen, Tao Ma, Xu-ning Shen, Xue-feng Xia, Guo-dong Xu, Xue-li Bai, Ting-bo Lian. Macrophage-induced tumor angiogenesis is regulated by the TSC2-mTOR pathway. Cancer research. vol 72. issue 6. 2012-05-14. PMID:22287548. |
in human peripheral monocytes stimulated by lipopolysaccharide, mtor was inhibited by rapamycin or activated by rna interference-mediated knockdown of the mtor repressor tuberous sclerosis complex 2 (tsc2). |
2012-05-14 |
2023-08-12 |
human |
| Guido Martignoni, Franco Bonetti, Marco Chilosi, Matteo Brunelli, Diego Segala, Mahul B Amin, Pedram Argani, John N Eble, Stefano Gobbo, Maurizio Pe. Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 25. issue 1. 2012-05-01. PMID:21874011. |
it has been demonstrated that most of these lesions are determined by mutations affecting genes of the tuberous sclerosis complex, tuberous sclerosis 1 (tsc1) and tuberous sclerosis 2 (tsc2), with eventual deregulation of the rheb/mtor/rps6kb2 pathway, and it has been observed that some pecomas regressed during sirolimus therapy, an mtor inhibitor. |
2012-05-01 |
2023-08-12 |
Not clear |