| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lisa Lee-Jones, Irene Aligianis, Peter A Davies, Ana Puga, Peter A Farndon, Anat Stemmer-Rachamimov, Vijaya Ramesh, Julian R Sampso. Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. Genes, chromosomes & cancer. vol 41. issue 1. 2004-08-24. PMID:15236319. |
sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of tsc1 or tsc2. |
2004-08-24 |
2023-08-12 |
Not clear |
| James Brugarolas, William G Kaeli. Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes. Cancer cell. vol 6. issue 1. 2004-08-24. PMID:15261137. |
mutations in lkb1 cause peutz-jeghers syndrome (pjs), and mutations in either tsc1 or tsc2 cause tuberous sclerosis complex--two syndromes characterized by the development of hamartomas. |
2004-08-24 |
2023-08-12 |
Not clear |
| Melanie Walker, Ali Samii, Thomas Bir. Coexistence of tuberous sclerosis and Friedreich ataxia. Journal of the neurological sciences. vol 221. issue 1-2. 2004-08-19. PMID:15178220. |
tuberous sclerosis (ts) is caused by point mutations in the tsc1 or tsc2 genes on chromosomes 9q33-34 or 16p13, respectively. |
2004-08-19 |
2023-08-12 |
Not clear |
| Penelope S Roberts, Vijaya Ramesh, Sandra Dabora, David J Kwiatkowsk. A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. Annals of human genetics. vol 67. issue Pt 6. 2004-08-10. PMID:14641237. |
tuberous sclerosis (tsc) is an autosomal dominant hamartoma syndrome due to mutations in either tsc1 or tsc2. |
2004-08-10 |
2023-08-12 |
Not clear |
| Hiroyuki Adachi, Shuichi Majima, Shigeyuki Kon, Toshiyuki Kobayashi, Kazunori Kajino, Hiroaki Mitani, Youko Hirayama, Hiroaki Shiina, Mikio Igawa, Okio Hin. Niban gene is commonly expressed in the renal tumors: a new candidate marker for renal carcinogenesis. Oncogene. vol 23. issue 19. 2004-08-06. PMID:14990989. |
functional inactivation of tuberous sclerosis 2 gene (tsc2) leads to renal carcinogenesis in the hereditary renal carcinoma eker rat models. |
2004-08-06 |
2023-08-12 |
mouse |
| Nisreen El-Hashemite, Hongbing Zhang, Victoria Walker, Karin M Hoffmeister, David J Kwiatkowsk. Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment. Cancer research. vol 64. issue 10. 2004-08-02. PMID:15150095. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder characterized by widespread development of hamartomas, which is caused by mutations in either tsc1 or tsc2. |
2004-08-02 |
2023-08-12 |
mouse |
| Geraldine A Finlay, Brian York, Richard H Karas, Barry L Fanburg, Hongbing Zhang, David J Kwiatkowski, Daniel J Noona. Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2. The Journal of biological chemistry. vol 279. issue 22. 2004-07-29. PMID:15039427. |
loss of function of the tuberous sclerosis 2 gene (tsc2), a tumor suppressor gene, has been associated with a growth-promoting effect of e2. |
2004-07-29 |
2023-08-12 |
Not clear |
| O Jameel Shah, Tony Hunte. Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex. The Journal of biological chemistry. vol 279. issue 20. 2004-07-21. PMID:14993219. |
the tuberous sclerosis gene products tsc1 and tsc2 behave as tumor suppressors by restricting cell growth, a function conserved among metazoans. |
2004-07-21 |
2023-08-12 |
Not clear |
| O Jameel Shah, Tony Hunte. Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex. The Journal of biological chemistry. vol 279. issue 20. 2004-07-21. PMID:14993219. |
finally, we identify one pathological tsc2 mutation that retains its ability to negatively regulate s6k1, suggesting that, in some cases, tuberous sclerosis may develop independently of s6k1 hyperactivation. |
2004-07-21 |
2023-08-12 |
Not clear |
| Pankaj Kapahi, Brian M Zid, Tony Harper, Daniel Koslover, Viveca Sapin, Seymour Benze. Regulation of lifespan in Drosophila by modulation of genes in the TOR signaling pathway. Current biology : CB. vol 14. issue 10. 2004-07-20. PMID:15186745. |
in drosophila, tsc1 and tsc2 (tuberous sclerosis complex genes 1 and 2) act together to inhibit tor (target of rapamycin), which mediates a signaling pathway that couples amino acid availability to s6 kinase, translation initiation, and growth. |
2004-07-20 |
2023-08-12 |
human |
| K Mayer, M Goedbloed, K van Zijl, M Nellist, H-D Rot. Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis. Journal of medical genetics. vol 41. issue 5. 2004-07-16. PMID:15121792. |
characterisation of a novel tsc2 missense mutation in the gap related domain associated with minimal clinical manifestations of tuberous sclerosis. |
2004-07-16 |
2023-08-12 |
Not clear |
| Maria Tachataki, Robert M L Winston, Deborah M Taylo. Quantitative RT-PCR reveals tuberous sclerosis gene, TSC2, mRNA degradation following cryopreservation in the human preimplantation embryo. Molecular human reproduction. vol 9. issue 10. 2004-05-28. PMID:12970397. |
quantitative rt-pcr reveals tuberous sclerosis gene, tsc2, mrna degradation following cryopreservation in the human preimplantation embryo. |
2004-05-28 |
2023-08-12 |
human |
| Maria Tachataki, Robert M L Winston, Deborah M Taylo. Quantitative RT-PCR reveals tuberous sclerosis gene, TSC2, mRNA degradation following cryopreservation in the human preimplantation embryo. Molecular human reproduction. vol 9. issue 10. 2004-05-28. PMID:12970397. |
to validate their use we have implemented a quantitative rt-pcr to characterize the levels of the tuberous sclerosis, tsc2 gene in fresh and frozen-thawed human embryos. |
2004-05-28 |
2023-08-12 |
human |
| Kathryn A Jones, Xiuyun Jiang, Yuji Yamamoto, Raymond S Yeun. Tuberin is a component of lipid rafts and mediates caveolin-1 localization: role of TSC2 in post-Golgi transport. Experimental cell research. vol 295. issue 2. 2004-05-20. PMID:15093748. |
mutations of the tsc2 gene lead to the development of hamartomas in tuberous sclerosis complex. |
2004-05-20 |
2023-08-12 |
Not clear |
| Sergiusz Jóźwiak, David Kwiatkowski, Katarzyna Kotulska, Magdalena Larysz-Brysz, Joanna Lewin-Kowalik, Wiesława Grajkowska, Marcin Roszkowsk. Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. Journal of child neurology. vol 19. issue 2. 2004-05-17. PMID:15072102. |
tuberous sclerosis complex is an autosomal dominant genetic disorder with a high sporadic case rate that is due to mutations in either of two genes, tsc1 and tsc2, encoding hamartin and tuberin, respectively. |
2004-05-17 |
2023-08-12 |
Not clear |
| Marjon van Slegtenhorst, Erikka Carr, Radka Stoyanova, Warren D Kruger, Elizabeth Petri Hensk. Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe. The Journal of biological chemistry. vol 279. issue 13. 2004-05-07. PMID:14718525. |
mutations in either tsc1 or tsc2 cause tuberous sclerosis complex, an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the skin, brain, heart, and kidneys. |
2004-05-07 |
2023-08-12 |
mouse |
| Masashi Mizuguchi, Masato Mori, Yasuyuki Nozaki, Mariko Y Momoi, Masayuki Itoh, Sachio Takashima, Okio Hin. Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis. Acta neuropathologica. vol 107. issue 1. 2004-05-03. PMID:14566415. |
the eker rat is an animal model of tuberous sclerosis caused by a mutation in the tsc2 gene encoding a tumor suppressor protein, tuberin. |
2004-05-03 |
2023-08-12 |
human |
| James B Brugarolas, Francisca Vazquez, Archana Reddy, William R Sellers, William G Kaeli. TSC2 regulates VEGF through mTOR-dependent and -independent pathways. Cancer cell. vol 4. issue 2. 2004-04-12. PMID:12957289. |
inactivation of the tsc2 tumor suppressor protein causes tuberous sclerosis complex (tsc), a disease characterized by highly vascular tumors. |
2004-04-12 |
2023-08-12 |
Not clear |
| Sangyeul Han, Túlio M Santos, Ana Puga, Jenn Roy, Elizabeth A Thiele, Mia McCollin, Anat Stemmer-Rachamimov, Vijaya Rames. Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. Cancer research. vol 64. issue 3. 2004-04-09. PMID:14871804. |
tuberous sclerosis complex is caused by mutations in tumor suppressor genes tsc1 or tsc2 and is characterized by the presence of hamartomas in many organs. |
2004-04-09 |
2023-08-12 |
human |
| Sangyeul Han, Túlio M Santos, Ana Puga, Jenn Roy, Elizabeth A Thiele, Mia McCollin, Anat Stemmer-Rachamimov, Vijaya Rames. Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. Cancer research. vol 64. issue 3. 2004-04-09. PMID:14871804. |
we demonstrate a novel mechanism of post-translational inactivation of the tsc2 protein, tuberin, by physiologically inappropriate phosphorylation, which is specific to tuberous sclerosis complex-associated brain lesions. |
2004-04-09 |
2023-08-12 |
human |