| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| David J Kwiatkowski, Hongbing Zhang, Jennifer L Bandura, Kristina M Heiberger, Michael Glogauer, Nisreen el-Hashemite, Hiroaki Ond. A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Human molecular genetics. vol 11. issue 5. 2002-09-09. PMID:11875047. |
tuberous sclerosis (tsc) is a autosomal dominant genetic disorder caused by mutations in either tsc1 or tsc2, and characterized by benign hamartoma growth. |
2002-09-09 |
2023-08-12 |
mouse |
| Yuji Yamamoto, Kathryn A Jones, Baldwin C Mak, Atis Muehlenbachs, Raymond S Yeun. Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin. Archives of biochemistry and biophysics. vol 404. issue 2. 2002-09-06. PMID:12147258. |
mutations of the tsc1 and tsc2 genes give rise to the clinical disorder of tuberous sclerosis characterized by the development of hamartomas predominantly affecting the central nervous system, kidney, skin, lung, and heart. |
2002-09-06 |
2023-08-12 |
Not clear |
| H Xu, J Shen, C L Walker, E Kleymenov. Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene. DNA sequence : the journal of DNA sequencing and mapping. vol 12. issue 5-6. 2002-08-14. PMID:11913782. |
our sequence data revealed a high conservation of the pkdl gene between rat and other species and mapped rat pkdl to chromosome 10 in "tail-to-tail" orientation to the tuberous sclerosis 2 (tsc2) gene. |
2002-08-14 |
2023-08-12 |
mouse |
| Deborah S Hunter, Michael Klotzbücher, Hiroyuki Kugoh, Sheng-Li Cai, Johanna P Mullen, Guidalberto Manfioletti, Ulrike Fuhrman, Cheryl L Walke. Aberrant expression of HMGA2 in uterine leiomyoma associated with loss of TSC2 tumor suppressor gene function. Cancer research. vol 62. issue 13. 2002-08-08. PMID:12097287. |
uterine myometria and spontaneous leiomyomas from the eker rat, which carries a germ-line mutation in the tuberous sclerosis complex-2 (tsc2) tumor suppressor gene, were analyzed for genetic defects in and expression of the tsc2 and hmga proteins. |
2002-08-08 |
2023-08-12 |
human |
| Toshiyuki Yamamoto, Judy R Pipo, Jian-Hua Feng, Hiromasa Takeda, Eiji Nanba, Haruaki Ninomiya, Kousaku Ohn. Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Brain & development. vol 24. issue 4. 2002-07-31. PMID:12015165. |
novel tsc1 and tsc2 mutations in japanese patients with tuberous sclerosis complex. |
2002-07-31 |
2023-08-12 |
Not clear |
| Emmanuel S Antonarakis, Julian R Sampson, Jeremy P Cheadl. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of biochemical and biophysical methods. vol 51. issue 2. 2002-07-19. PMID:12062115. |
we have previously shown that denaturing high-performance liquid chromatography (dhplc) at the recommended melt temperature can detect tsc1 and tsc2 mutations in tuberous sclerosis patients with low-level somatic mosaicism, even when direct sequencing cannot identify the causative lesion. |
2002-07-19 |
2023-08-12 |
Not clear |
| Todd M Kolb, Seung H Chang, Myrtle A Davi. Biochemical and morphological events during okadaic acid-induced apoptosis of Tsc2-null ERC-18 cell line. Toxicologic pathology. vol 30. issue 2. 2002-04-25. PMID:11950167. |
the goals of this study were to characterize the apoptotic response of a tuberous sclerosis complex-2 (tsc2) tumor suppressor gene-null cell line, to establish valid biochemical events that can be used as apoptosis markers, and to determine how these events correlate with apoptosis-specific morphologic changes. |
2002-04-25 |
2023-08-12 |
Not clear |
| Gustavo Pacheco-Rodriguez, Arnold S Kristof, Linda A Stevens, Yi Zhang, Denise Crooks, Joel Mos. Giles F. Filley Lecture. Genetics and gene expression in lymphangioleiomyomatosis. Chest. vol 121. issue 3 Suppl. 2002-04-17. PMID:11893686. |
recent evidence suggests that the proliferative and invasive nature of lam cells may be due, in part, to somatic mutations in the tsc2 gene, which has been implicated in the pathogenesis of tuberous sclerosis complex. |
2002-04-17 |
2023-08-12 |
Not clear |
| R Przkora, B Meyer-Puttlitz, O Schmitt, F Berthold, M Nöthen, J Krauss, J C Tonn, A von Deimling, O D Wiestler, T Pietsc. Analysis of the TSC2 gene in human medulloblastoma. Acta neuropathologica. vol 102. issue 4. 2002-03-12. PMID:11603814. |
here we investigated tuberous sclerosis 2 (tsc2), one of the two genes responsible for tuberous sclerosis, in sporadic mbs. |
2002-03-12 |
2023-08-12 |
human |
| Teruhiko Sato, Kuniaki Seyama, Hiroaki Fujii, Hiroshi Maruyama, Yasuhiro Setoguchi, Shin-ichiro Iwakami, Yoshinosuke Fukuchi, Okio Hin. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. Journal of human genetics. vol 47. issue 1. 2002-03-05. PMID:11829138. |
pulmonary lam can occur as an isolated form (sporadic lam) or in association with tuberous sclerosis complex (tsc) (tsc-lam), a genetic disorder with autosomal dominant inheritance with various expressivity resulting from mutations of either the tsc1 or tsc2 gene. |
2002-03-05 |
2023-08-12 |
Not clear |
| R Guerrini, R Carrozz. Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Seizure. vol 10. issue 7. 2002-02-28. PMID:11749114. |
tuberous sclerosis (ts) is a dominant disorder caused by mutations in at lest two genes, tsc1 and tsc2. |
2002-02-28 |
2023-08-12 |
Not clear |
| Guido Martignoni, Franco Bonetti, Maurizio Pea, Regina Tardanico, Matteo Brunelli, John N Ebl. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. The American journal of surgical pathology. vol 26. issue 2. 2002-02-28. PMID:11812941. |
the most common renal lesions of tuberous sclerosis complex, an autosomal-dominant syndrome resulting from losses of tsc1 (9q34) or tsc2 (16p13.3), are renal cysts and angiomyolipomas. |
2002-02-28 |
2023-08-12 |
Not clear |
| Guido Martignoni, Franco Bonetti, Maurizio Pea, Regina Tardanico, Matteo Brunelli, John N Ebl. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. The American journal of surgical pathology. vol 26. issue 2. 2002-02-28. PMID:11812941. |
recently, a deletion mutation disrupting both tsc2 and pkd1 has been described in young children with tuberous sclerosis complex with severe renal cystic disease. |
2002-02-28 |
2023-08-12 |
Not clear |
| Daniel J Noonan, Dingyuan Lou, Nicole Griffith, Thomas C Vanama. A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis. Archives of biochemistry and biophysics. vol 398. issue 1. 2002-02-15. PMID:11811958. |
mutations in the tuberous sclerosis 2 (tsc2) gene product have been genetically linked to the pathology of both tuberous sclerosis (tsc) and the gender-specific lung disease, lymphangioleiomyomatosis (lam). |
2002-02-15 |
2023-08-12 |
human |
| D Lou, N Griffith, D J Noona. The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner. Molecular cell biology research communications : MCBRC. vol 4. issue 6. 2002-01-30. PMID:11703097. |
the tuberous sclerosis 2 (tsc2) gene has been genetically mapped to a disease characterized by abnormal cell proliferation that results in the production of tumorous lesions in a variety of tissues. |
2002-01-30 |
2023-08-12 |
Not clear |
| D Lou, N Griffith, D J Noona. The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner. Molecular cell biology research communications : MCBRC. vol 4. issue 6. 2002-01-30. PMID:11703097. |
the molecular mechanism for tsc2 mediation of tuberous sclerosis is unclear but it appears to be related to its ability to cytoplasmically interact with a second gene, tsc1, mapping to the disease. |
2002-01-30 |
2023-08-12 |
Not clear |
| M A Goedbloed, M Nellist, B Verhaaf, A J Reuser, D Lindhout, L Sunde, S Verhoef, D J Halley, A M van den Ouwelan. Analysis of TSC2 stop codon variants found in tuberous sclerosis patients. European journal of human genetics : EJHG. vol 9. issue 11. 2002-01-23. PMID:11781698. |
analysis of tsc2 stop codon variants found in tuberous sclerosis patients. |
2002-01-23 |
2023-08-12 |
Not clear |
| M A Goedbloed, M Nellist, B Verhaaf, A J Reuser, D Lindhout, L Sunde, S Verhoef, D J Halley, A M van den Ouwelan. Analysis of TSC2 stop codon variants found in tuberous sclerosis patients. European journal of human genetics : EJHG. vol 9. issue 11. 2002-01-23. PMID:11781698. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations to the tsc1 and tsc2 tumour suppressor genes. |
2002-01-23 |
2023-08-12 |
Not clear |
| J Yu, A Astrinidis, E P Hensk. Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. American journal of respiratory and critical care medicine. vol 164. issue 8 Pt 1. 2002-01-22. PMID:11704609. |
here we report tsc2 loh in microdissected pulmonary lam cells from a patient with tuberous sclerosis complex (tsc), demonstrating for the first time that the two-hit tumor suppressor gene model applies to the tsc-associated, as well as sporadic lam. |
2002-01-22 |
2023-08-12 |
Not clear |
| P A Nguyen-Vu, I Fackler, A Rust, J E DeClue, C A Sander, M Volkenandt, M Flaig, R S Yeung, R Wieneck. Loss of tuberin, the tuberous-sclerosis-complex-2 gene product is associated with angiogenesis. Journal of cutaneous pathology. vol 28. issue 9. 2001-12-31. PMID:11553313. |
tuberous sclerosis complex (tsc) is an autosomal dominantly inherited disorder associated with an alteration of the tsc2 tumor suppressor gene which encodes for the protein product tuberin. |
2001-12-31 |
2023-08-12 |
rat |