| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| R Vrtel, S Verhoef, K Bouman, M M Maheshwar, M Nellist, A J van Essen, P L Bakker, C J Hermans, M T Bink-Boelkens, R M van Elburg, M Hoff, D Lindhout, J Sampson, D J Halley, A M van den Ouwelan. Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. Journal of medical genetics. vol 33. issue 1. 1996-12-05. PMID:8825048. |
to our knowledge, this is the first report of a point mutation in the tsc2 gene in a familial case of tuberous sclerosis. |
1996-12-05 |
2023-08-12 |
human |
| T C Burn, T D Connors, T J Van Raay, W R Dackowski, J M Millholland, K W Klinger, G M Lande. Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. Genome research. vol 6. issue 6. 1996-12-05. PMID:8828041. |
generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (pkd1) and tuberous sclerosis type 2 (tsc2) disease genes on human chromosome 16p3.3. |
1996-12-05 |
2023-08-12 |
human |
| T C Burn, T D Connors, T J Van Raay, W R Dackowski, J M Millholland, K W Klinger, G M Lande. Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. Genome research. vol 6. issue 6. 1996-12-05. PMID:8828041. |
a 700-kb region of dna in human chromosome 16p13.3 has been shown to contain the polycystic kidney disease 1 (pkd1) and the tuberous sclerosis type 2 (tsc2) disease genes. |
1996-12-05 |
2023-08-12 |
human |
| C Carbonara, L Longa, E Grosso, G Mazzucco, C Borrone, M L Garrè, M Brisigotti, G Filippi, A Scabar, A Giannotti, P Falzoni, G Monga, G Garini, M Gabrielli, P Riegler, C Danesino, M Ruggieri, G Magro, N Migon. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes, chromosomes & cancer. vol 15. issue 1. 1996-11-22. PMID:8824721. |
apparent preferential loss of heterozygosity at tsc2 over tsc1 chromosomal region in tuberous sclerosis hamartomas. |
1996-11-22 |
2023-08-12 |
Not clear |
| C Carbonara, L Longa, E Grosso, G Mazzucco, C Borrone, M L Garrè, M Brisigotti, G Filippi, A Scabar, A Giannotti, P Falzoni, G Monga, G Garini, M Gabrielli, P Riegler, C Danesino, M Ruggieri, G Magro, N Migon. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes, chromosomes & cancer. vol 15. issue 1. 1996-11-22. PMID:8824721. |
to investigate the molecular mechanisms of tuberous sclerosis (tsc) histopathologic lesions, we have tested for loss of heterozygosity the two tsc loci (tsc1 and tsc2) and seven tumor suppressor gene-containing regions (tp53, nf1, nf2, brca1, apc, vhl, and mlm) in 20 hamartomas from 18 tsc patients. |
1996-11-22 |
2023-08-12 |
Not clear |
| R Wienecke, J C Maize, F Shoarinejad, W C Vass, J Reed, J S Bonifacino, J H Resau, J de Gunzburg, R S Yeung, J E DeClu. Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus. Oncogene. vol 13. issue 5. 1996-11-05. PMID:8806680. |
tuberin is the protein product of the tuberous sclerosis-2 (tsc2) gene, which is associated with tuberous sclerosis (tsc), a human genetic syndrome characterized by the development of tumors in a variety of tissues. |
1996-11-05 |
2023-08-12 |
human |
| F Jin, R Wienecke, G H Xiao, J C Maize, J E DeClue, R S Yeun. Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 17. 1996-10-31. PMID:8799170. |
suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (tsc2) gene and its c-terminal region. |
1996-10-31 |
2023-08-12 |
mouse |
| F Jin, R Wienecke, G H Xiao, J C Maize, J E DeClue, R S Yeun. Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 17. 1996-10-31. PMID:8799170. |
the tsc2 gene, which is mutationally inactivated in the germ line of some families with tuberous sclerosis, encodes a large, membrane-associated gtpase activating protein (gap) designated tuberin. |
1996-10-31 |
2023-08-12 |
mouse |
| M M Maheshwar, R Sandford, M Nellist, J P Cheadle, B Sgotto, M Vaudin, J R Sampso. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human molecular genetics. vol 5. issue 4. 1996-10-24. PMID:8845853. |
comparative analysis and genomic structure of the tuberous sclerosis 2 (tsc2) gene in human and pufferfish. |
1996-10-24 |
2023-08-12 |
human |
| M M Maheshwar, R Sandford, M Nellist, J P Cheadle, B Sgotto, M Vaudin, J R Sampso. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human molecular genetics. vol 5. issue 1. 1996-10-22. PMID:8789450. |
comparative analysis and genomic structure of the tuberous sclerosis 2 (tsc2) gene in human and pufferfish. |
1996-10-22 |
2023-08-12 |
human |
| M M Maheshwar, R Sandford, M Nellist, J P Cheadle, B Sgotto, M Vaudin, J R Sampso. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human molecular genetics. vol 5. issue 1. 1996-10-22. PMID:8789450. |
germ-line mutations of the tsc2 tumour suppressor gene have been identified in humans with tuberous sclerosis and in the eker rat. |
1996-10-22 |
2023-08-12 |
human |
| K K Kim, L Pajak, H Wang, L J Fiel. Cloning, developmental expression, and evidence for alternative splicing of the murine tuberous sclerosis (TSC2) gene product. Cellular & molecular biology research. vol 41. issue 6. 1996-09-13. PMID:8777431. |
cloning, developmental expression, and evidence for alternative splicing of the murine tuberous sclerosis (tsc2) gene product. |
1996-09-13 |
2023-08-12 |
human |
| A Kumar, R S Kandt, C Wolpert, A D Roses, M A Pericak-Vance, J R Gilber. Mutation analysis of the TSC2 gene in an African-American family. Human molecular genetics. vol 4. issue 12. 1996-07-08. PMID:8634701. |
tuberous sclerosis complex is an autosomal dominant disorder with loci on chromosome 9q34 (tsc1) and chromosome 16p13.3 (tsc2). |
1996-07-08 |
2023-08-12 |
Not clear |
| J I Everitt, T L Goldsworthy, D C Wolf, C L Walke. Hereditary renal cell carcinoma in the Eker rat: a unique animal model for the study of cancer susceptibility. Toxicology letters. vol 82-83. 1996-04-15. PMID:8597118. |
this type of cancer syndrome arises in the eker rat due to a genetic defect in the tuberous sclerosis 2 (tsc2) gene. |
1996-04-15 |
2023-08-12 |
rat |
| P C Harris, C J Ward, B Peral, J Hughe. Polycystic kidney disease. 1: Identification and analysis of the primary defect. Journal of the American Society of Nephrology : JASN. vol 6. issue 4. 1996-03-25. PMID:8589278. |
however, a number of patients with large deletions of the pkd1 and adjacent tuberous sclerosis 2 (tsc2) genes, who have tuberous sclerosis and severe childhood-onset polycystic kidney disease, have also been described. |
1996-03-25 |
2023-08-12 |
Not clear |
| R T Geist, D H Gutman. The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research. vol 6. issue 11. 1996-03-04. PMID:8562486. |
given the high incidence of central nervous system abnormalities in individuals affected with tuberous sclerosis, the expression of tsc2 in developing and adult nervous system tissues was examined. |
1996-03-04 |
2023-08-12 |
Not clear |
| H Tsuchiya, K Orimoto, K Kobayashi, O Hin. Presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (Tsc2) gene product of the Eker rat model. Cancer research. vol 56. issue 3. 1996-03-01. PMID:8564946. |
presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (tsc2) gene product of the eker rat model. |
1996-03-01 |
2023-08-12 |
human |
| H Tsuchiya, K Orimoto, K Kobayashi, O Hin. Presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (Tsc2) gene product of the Eker rat model. Cancer research. vol 56. issue 3. 1996-03-01. PMID:8564946. |
we recently reported that a germline insertion in the rat homologue of the human tuberous sclerosis gene (tsc2) gives rise to dominantly inherited cancer in the eker rat model, as well as a tumor suppressor nature for the tsc2 gene function. |
1996-03-01 |
2023-08-12 |
human |
| G H Xiao, F Jin, R S Yeun. Identification of tuberous sclerosis 2 messenger RNA splice variants that are conserved and differentially expressed in rat and human tissues. Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research. vol 6. issue 9. 1996-01-25. PMID:8519695. |
tuberous sclerosis 2 (tsc2) gene is the target of a germline insertion in the eker rat model of inherited cancer susceptibility. |
1996-01-25 |
2023-08-12 |
human |
| Y Kubo, Y Kikuchi, H Mitani, E Kobayashi, T Kobayashi, O Hin. Allelic loss at the tuberous sclerosis (Tsc2) gene locus in spontaneous uterine leiomyosarcomas and pituitary adenomas in the Eker rat model. Japanese journal of cancer research : Gann. vol 86. issue 9. 1995-12-06. PMID:7591959. |
allelic loss at the tuberous sclerosis (tsc2) gene locus in spontaneous uterine leiomyosarcomas and pituitary adenomas in the eker rat model. |
1995-12-06 |
2023-08-12 |
rat |