| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| L Longa, A Saluto, A Brusco, S Polidoro, S Padovan, A Allavena, C Carbonara, E Grosso, N Migon. TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene. Human genetics. vol 108. issue 2. 2001-04-12. PMID:11281455. |
the breakpoint sequence of seven internal deletions, three in tsc1 and four in tsc2, allowed us to speculate on the mechanism favoring tsc2 unequal recombinations and to identify a deletion hot spot that lies in tsc1 and that may be relevant in the routine genetic testing of tuberous sclerosis. |
2001-04-12 |
2023-08-12 |
Not clear |
| J Brown, S W Horsley, C Jung, K Saracoglu, B Janssen, M Brough, M Daschner, B Beedgen, G Kerkhoffs, R Eils, P C Harris, A Jauch, L Kearne. Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. European journal of human genetics : EJHG. vol 8. issue 12. 2001-02-22. PMID:11175277. |
in the present study, the presence of tubers on cranial magnetic resonance imaging (mri) of a 5-week-old infant prompted an investigation, by fish, with probes from the tuberous sclerosis gene, tsc2. |
2001-02-22 |
2023-08-12 |
Not clear |
| S L Dabora, S Jozwiak, D N Franz, P S Roberts, A Nieto, J Chung, Y S Choy, M P Reeve, E Thiele, J C Egelhoff, J Kasprzyk-Obara, D Domanska-Pakiela, D J Kwiatkowsk. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American journal of human genetics. vol 68. issue 1. 2001-02-15. PMID:11112665. |
mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of tsc2, compared with tsc1, disease in multiple organs. |
2001-02-15 |
2023-08-12 |
Not clear |
| S L Dabora, S Jozwiak, D N Franz, P S Roberts, A Nieto, J Chung, Y S Choy, M P Reeve, E Thiele, J C Egelhoff, J Kasprzyk-Obara, D Domanska-Pakiela, D J Kwiatkowsk. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American journal of human genetics. vol 68. issue 1. 2001-02-15. PMID:11112665. |
tuberous sclerosis (tsc) is a relatively common hamartoma syndrome caused by mutations in either of two genes, tsc1 and tsc2. |
2001-02-15 |
2023-08-12 |
Not clear |
| K Mayer, W Ballhausen, W Leistner, H Rot. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochimica et biophysica acta. vol 1502. issue 3. 2001-01-11. PMID:11068191. |
three novel types of splicing aberrations in the tuberous sclerosis tsc2 gene caused by mutations apart from splice consensus sequences. |
2001-01-11 |
2023-08-12 |
Not clear |
| K Mayer, W Ballhausen, W Leistner, H Rot. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochimica et biophysica acta. vol 1502. issue 3. 2001-01-11. PMID:11068191. |
disease causing aberrations in both tuberous sclerosis predisposing genes, tsc1 and tsc2, comprise nearly every type of alteration with a predominance of small truncating mutations distributed over both genes. |
2001-01-11 |
2023-08-12 |
Not clear |
| L Pritchard, J A Sloane-Stanley, J A Sharpe, R Aspinwall, W Lu, V Buckle, L Strmecki, D Walker, C J Ward, C E Alpers, J Zhou, W G Wood, P C Harri. A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Human molecular genetics. vol 9. issue 18. 2000-12-14. PMID:11063721. |
three founder transgenic mice were generated with a 108 kb human genomic fragment containing the entire autosomal dominant polycystic kidney disease (adpkd) gene, pkd1, plus the tuberous sclerosis gene, tsc2. |
2000-12-14 |
2023-08-12 |
mouse |
| A Miloloza, M Rosner, M Nellist, D Halley, G Bernaschek, M Hengstschläge. The TSC1 gene product, hamartin, negatively regulates cell proliferation. Human molecular genetics. vol 9. issue 12. 2000-10-27. PMID:10915759. |
tuberous sclerosis is an autosomal dominant hereditary disease caused by mutations in either the tsc1 or the tsc2 tumor suppressor gene. |
2000-10-27 |
2023-08-12 |
Not clear |
| T Fukuda, T Kobayashi, S Momose, H Yasui, O Hin. Distribution of Tsc1 protein detected by immunohistochemistry in various normal rat tissues and the renal carcinomas of Eker rat: detection of limited colocalization with Tsc1 and Tsc2 gene products in vivo. Laboratory investigation; a journal of technical methods and pathology. vol 80. issue 9. 2000-10-05. PMID:11005204. |
we and others previously demonstrated that hereditary mutation and a subsequent second hit in the rat homolog of tuberous sclerosis gene (tsc2) are responsible for eker renal carcinomas (rc). |
2000-10-05 |
2023-08-12 |
human |
| T Fukuda, T Kobayashi, S Momose, H Yasui, O Hin. Distribution of Tsc1 protein detected by immunohistochemistry in various normal rat tissues and the renal carcinomas of Eker rat: detection of limited colocalization with Tsc1 and Tsc2 gene products in vivo. Laboratory investigation; a journal of technical methods and pathology. vol 80. issue 9. 2000-10-05. PMID:11005204. |
in humans, alteration in the tsc2 gene is known to cause the tuberous sclerosis complex (tsc) that results in hamartomatous lesions in multiple organs, but the function of tsc2 is not fully understood. |
2000-10-05 |
2023-08-12 |
human |
| O Hin. [Cancer genetics of TSC2 gene mutant(Eker) rat model]. Nihon rinsho. Japanese journal of clinical medicine. vol 58. issue 6. 2000-09-19. PMID:10879050. |
we identified a germline mutation in the rat homologous to the human tuberous sclerosis gene (tsc2) as the predisposing eker gene. |
2000-09-19 |
2023-08-12 |
human |
| T Urba. [Clinical and molecular epidemiology of lymphangioleiomyomatosis and pulmonary pathology in tuberous sclerosis]. Revue des maladies respiratoires. vol 17. issue 2 Pt 2. 2000-09-07. PMID:10939121. |
the tsc2 gene is particularly implicated in the pathogenesis of bourneville tuberous sclerosis. |
2000-09-07 |
2023-08-12 |
Not clear |
| J Hass, K Mayer, H D Rot. Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE. Human mutation. vol 16. issue 1. 2000-08-25. PMID:10874311. |
tuberous sclerosis (tsc) is an autosomal dominant disorder which is genetically heterogeneous with two genes, tsc1 and tsc2. |
2000-08-25 |
2023-08-12 |
Not clear |
| M Mizuguchi, K Ikeda, S Takashim. Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta neuropathologica. vol 99. issue 5. 2000-07-17. PMID:10805093. |
tuberous sclerosis (tsc) is caused by a mutation in either the tsc1 or tsc2 gene. |
2000-07-17 |
2023-08-12 |
Not clear |
| T J Jónasdóttir, C S Mellersh, L Moe, F Vignaux, E A Ostrander, F Lingaa. Chromosomal assignment of canine TSC2, PKD1 and CLN3 genes by radiation hybrid- and linkage analyses. Animal genetics. vol 31. issue 2. 2000-07-13. PMID:10782211. |
the canine tuberous sclerosis 2 (tsc2) gene has been mapped to canine chromosome 6 using a canine whole genome radiation hybrid panel. |
2000-07-13 |
2023-08-12 |
human |
| T Carsillo, A Astrinidis, E P Hensk. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proceedings of the National Academy of Sciences of the United States of America. vol 97. issue 11. 2000-06-30. PMID:10823953. |
mutations in the tuberous sclerosis complex gene tsc2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. |
2000-06-30 |
2023-08-12 |
Not clear |
| T J Jónasdóttir, C S Mellersh, L Moe, R Heggebø, H Gamlem, E A Ostrander, F Lingaa. Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs. Proceedings of the National Academy of Sciences of the United States of America. vol 97. issue 8. 2000-05-17. PMID:10759551. |
a combination of linkage analysis and direct sequencing eliminate several likely candidate genes, including tuberous sclerosis 1 and 2 genes (tsc1 and tsc2) and the tumor suppressor gene tp53. |
2000-05-17 |
2023-08-12 |
human |
| J R Gilbert, V Guy, A Kumar, C Wolpert, R Kandt, A Aylesworth, A D Roses, M A Pericak-Vanc. Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. Neurogenetics. vol 1. issue 4. 2000-04-13. PMID:10732801. |
mutation and polymorphism analysis in the tuberous sclerosis 2 (tsc2) gene. |
2000-04-13 |
2023-08-12 |
Not clear |
| J R Gilbert, V Guy, A Kumar, C Wolpert, R Kandt, A Aylesworth, A D Roses, M A Pericak-Vanc. Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. Neurogenetics. vol 1. issue 4. 2000-04-13. PMID:10732801. |
tuberous sclerosis complex (tsc) is an autosomal dominant multi-system disorder with two known disease loci on chromosomes 9q34 (tsc1) and 16p13.3 (tsc2). |
2000-04-13 |
2023-08-12 |
Not clear |
| M Mizuguchi, S Takashima, H Yamanouchi, Y Nakazato, H Mitani, O Hin. Novel cerebral lesions in the Eker rat model of tuberous sclerosis: cortical tuber and anaplastic ganglioglioma. Journal of neuropathology and experimental neurology. vol 59. issue 3. 2000-04-07. PMID:10744057. |
the eker rat is a model for human tuberous sclerosis (tsc) caused by a mutation in the tsc2 gene. |
2000-04-07 |
2023-08-12 |
human |