All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
T Kobayashi, H Mitani, R Takahashi, M Hirabayashi, M Ueda, H Tamura, O Hin. Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 8. 1997-05-22. PMID:9108092. we recently reported that a germ-line insertion in the rat homologue of the human tuberous sclerosis gene (tsc2) gives rise to dominantly inherited cancer in the eker rat model. 1997-05-22 2023-08-12 human
G H Xiao, F Shoarinejad, F Jin, E A Golemis, R S Yeun. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. The Journal of biological chemistry. vol 272. issue 10. 1997-04-14. PMID:9045618. the tuberous sclerosis complex 2 (tsc2) is a tumor suppressor gene that plays a causative role in the autosomal dominant syndrome of tuberous sclerosis. 1997-04-14 2023-08-12 Not clear
H K Wolf, S Normann, A J Green, I von Bakel, I Blümcke, T Pietsch, O D Wiestler, A von Deimlin. Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions. Acta neuropathologica. vol 93. issue 1. 1997-04-01. PMID:9006662. the recently reported loss of heterozygosity (loh) at the regions of the tsc1 or tsc2 locus in hamartomas obtained from different organs of patients with established tuberous sclerosis, including cortical tubers, stimulated us to examine epilepsy-associated tuberous sclerosis-like glioneuronal malformations with respect to loh at the tsc1 and tsc2 loci of chromosomes 9q34 and 16p 13.3, respectively. 1997-04-01 2023-08-12 human
R Sandford, B Sgotto, T Burn, S Brenne. The tuberin (TSC2), autosomal dominant polycystic kidney disease (PKD1), and somatostatin type V receptor (SSTR5) genes form a synteny group in the Fugu genome. Genomics. vol 38. issue 1. 1997-03-17. PMID:8954784. the tuberous sclerosis 2 (tsc2) and polycystic kidney disease 1 (pkd1) genes are adjacent on human chromosome 16p13.3 and form part of a conserved synteny group with mouse chromosome 17. 1997-03-17 2023-08-12 mouse
T Sepp, J R Yates, A J Gree. Loss of heterozygosity in tuberous sclerosis hamartomas. Journal of medical genetics. vol 33. issue 11. 1997-03-13. PMID:8950679. we have previously described in tuberous sclerosis (tsc) hamartomas the phenomenon of loss of heterozygosity (loh) for dna markers in the region of both the tsc2 gene on chromosome 16p13.3 and the tsc1 gene on 9q34. 1997-03-13 2023-08-12 Not clear
M Menchine, J K Emelin, P S Mischel, T A Haag, M G Norman, S H Pepkowitz, C T Welsh, J J Townsend, H V Vinter. Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 9. issue 11. 1997-02-13. PMID:8933518. tissue and cell-type specific expression of the tuberous sclerosis gene, tsc2, in human tissues. 1997-02-13 2023-08-12 human
M Menchine, J K Emelin, P S Mischel, T A Haag, M G Norman, S H Pepkowitz, C T Welsh, J J Townsend, H V Vinter. Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 9. issue 11. 1997-02-13. PMID:8933518. tsc2 is a gene on chromosome 16p13.3 associated with the autosomal dominant neurocutaneous disorder, tuberous sclerosis complex (tsc). 1997-02-13 2023-08-12 human
R Aspinwall, D G Rothwell, T Roldan-Arjona, C Anselmino, C J Ward, J P Cheadle, J R Sampson, T Lindahl, P C Harris, I D Hickso. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 1. 1997-02-13. PMID:8990169. during analysis of the area adjacent to the human tuberous sclerosis gene (tsc2) in chromosome region 16p13.3, we identified a gene, octs3, that encodes a 1-kb transcript. 1997-02-13 2023-08-12 human
M Mizuguchi, M Kato, H Yamanouchi, K Ikeda, S Takashim. Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Annals of neurology. vol 40. issue 6. 1997-02-13. PMID:9007104. we studied the expression of tuberin, the tsc2 gene product, in cerebra with or without tuberous sclerosis. 1997-02-13 2023-08-12 Not clear
P G Olsson, C Löhning, S Horsley, L Kearney, P C Harris, A Frischau. The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene. Genomics. vol 34. issue 2. 1997-02-11. PMID:8661056. the gene is located within a previously defined conserved synteny group that includes the mouse homologue of tuberous sclerosis 2 (tsc2) and is linked to the alpha globin pseudogene hba-ps4. 1997-02-11 2023-08-12 mouse
R Wienecke, J C Maize, J A Reed, J de Gunzburg, R S Yeung, J E DeClu. Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues. The American journal of pathology. vol 150. issue 1. 1997-02-07. PMID:9006320. the tuberous sclerosis-2 (tsc2) gene is linked to tuberous sclerosis (tsc), a dominantly inherited genetic syndrome in which inactivation of the normal tsc2 allele is associated with the development of mostly benign tumors and focal dysplasias. 1997-02-07 2023-08-12 human
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. identification of a nonsense mutation at the 5' end of the tsc2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. 1996-12-05 2023-08-12 human
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. the detection of (small) mutations in the tuberous sclerosis gene located on chromosome 16 (tsc2) has recently become possible and may be helpful in the diagnosis of ambiguous cases. 1996-12-05 2023-08-12 human
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