| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| L Parry, J H Maynard, A Patel, S C Clifford, C Morrissey, E R Maher, J P Cheadle, J R Sampso. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British journal of cancer. vol 85. issue 8. 2001-12-05. PMID:11710839. |
germline mutations of the tsc1 and tsc2 genes cause tuberous sclerosis (tsc), a multi-system hamartoma syndrome that is also associated with rcc. |
2001-12-05 |
2023-08-12 |
Not clear |
| H Maruyama, C Ohbayashi, O Hino, M Tsutsumi, Y Konish. Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2. Pathology international. vol 51. issue 8. 2001-12-04. PMID:11564212. |
pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes tsc1 and tsc2. |
2001-12-04 |
2023-08-12 |
human |
| R Guerrini, R Carrozz. Epilepsy and genetic malformations of the cerebral cortex. American journal of medical genetics. vol 106. issue 2. 2001-12-04. PMID:11579436. |
tuberous sclerosis (ts) is caused by mutations in at least two genes, tsc1 and tsc2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. |
2001-12-04 |
2023-08-12 |
Not clear |
| S Verhoef, D Lindhout, D J Halley, A M van den Ouwelan. [From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex]. Nederlands tijdschrift voor geneeskunde. vol 145. issue 40. 2001-12-04. PMID:11675974. |
[from gene to disease; tsc1 and tsc2 genes and tuberous sclerosis complex]. |
2001-12-04 |
2023-08-12 |
Not clear |
| L Khare, G D Strizheva, J N Bailey, K S Au, H Northrup, M Smith, S L Smalley, E P Hensk. A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. Journal of medical genetics. vol 38. issue 5. 2001-10-18. PMID:11403047. |
a novel missense mutation in the gtpase activating protein homology region of tsc2 in two large families with tuberous sclerosis complex. |
2001-10-18 |
2023-08-12 |
Not clear |
| Y Niida, A O Stemmer-Rachamimov, M Logrip, D Tapon, R Perez, D J Kwiatkowski, K Sims, M MacCollin, D N Louis, V Rames. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. American journal of human genetics. vol 69. issue 3. 2001-09-06. PMID:11468687. |
tuberous sclerosis complex (tsc), an autosomal dominant disease caused by mutations in either tsc1 or tsc2, is characterized by the development of hamartomas in a variety of organs. |
2001-09-06 |
2023-08-12 |
Not clear |
| T Soucek, M Rosner, A Miloloza, M Kubista, J P Cheadle, J R Sampson, M Hengstschläge. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene. vol 20. issue 35. 2001-09-06. PMID:11521203. |
tuberous sclerosis causing mutants of the tsc2 gene product affect proliferation and p27 expression. |
2001-09-06 |
2023-08-12 |
human |
| T Soucek, M Rosner, A Miloloza, M Kubista, J P Cheadle, J R Sampson, M Hengstschläge. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene. vol 20. issue 35. 2001-09-06. PMID:11521203. |
the autosomal dominant disease tuberous sclerosis (tsc) is caused by mutations in either tsc1 on chromosome 9q34, encoding hamartin, or tsc2 on chromosome 16p13.3, encoding tuberin. |
2001-09-06 |
2023-08-12 |
human |
| V Murthy, A O Stemmer-Rachamimov, L A Haddad, J E Roy, A N Cutone, R L Beauchamp, N Smith, D N Louis, V Rames. Developmental expression of the tuberous sclerosis proteins tuberin and hamartin. Acta neuropathologica. vol 101. issue 3. 2001-08-30. PMID:11307618. |
the tuberous sclerosis genes, tsc1 and tsc2, encode hamartin and tuberin, respectively. |
2001-08-30 |
2023-08-12 |
human |
| T Kobayashi, O Minowa, Y Sugitani, S Takai, H Mitani, E Kobayashi, T Noda, O Hin. A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Proceedings of the National Academy of Sciences of the United States of America. vol 98. issue 15. 2001-08-30. PMID:11438694. |
tuberous sclerosis (ts) is characterized by the development of hamartomas in various organs and is caused by a germ-line mutation in either tsc1 or tsc2 tumor suppressor genes. |
2001-08-30 |
2023-08-12 |
mouse |
| M Hengstschläger, D M Rodman, A Miloloza, E Hengstschläger-Ottnad, M Rosner, M Kubist. Tuberous sclerosis gene products in proliferation control. Mutation research. vol 488. issue 3. 2001-08-09. PMID:11397651. |
two genes, tsc1 and tsc2, have been shown to be responsible for tuberous sclerosis (tsc). |
2001-08-09 |
2023-08-12 |
mouse |
| H Maruyama, K Seyama, J Sobajima, K Kitamura, T Sobajima, T Fukuda, K Hamada, M Tsutsumi, O Hino, Y Konish. Multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a TSC2 gene. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 14. issue 6. 2001-07-26. PMID:11406664. |
multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis with a tsc2 gene. |
2001-07-26 |
2023-08-12 |
human |
| P Bénit, J P Bonnefont, A Kara Mostefa, C Francannet, A Munnich, P F Ra. Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenatal diagnosis. vol 21. issue 4. 2001-07-05. PMID:11288117. |
tuberous sclerosis (tsc) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (tsc1) or the tuberin gene (tsc2). |
2001-07-05 |
2023-08-12 |
Not clear |
| X Gao, D Pa. TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth. Genes & development. vol 15. issue 11. 2001-07-05. PMID:11390358. |
tuberous sclerosis is a human disease caused by mutations in the tsc1 or the tsc2 tumor suppressor gene. |
2001-07-05 |
2023-08-12 |
human |
| R J Daniels, J F Peden, C Lloyd, S W Horsley, K Clark, C Tufarelli, L Kearney, V J Buckle, N A Doggett, J Flint, D R Higg. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Human molecular genetics. vol 10. issue 4. 2001-06-07. PMID:11157797. |
we have sequenced 1949 kb from the terminal giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (tsc2) and polycystic kidney disease 1 (pkd1) genes. |
2001-06-07 |
2023-08-12 |
human |
| G D Strizheva, T Carsillo, W D Kruger, E J Sullivan, J H Ryu, E P Hensk. The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. American journal of respiratory and critical care medicine. vol 163. issue 1. 2001-05-31. PMID:11208653. |
the spectrum of mutations in tsc1 and tsc2 in women with tuberous sclerosis and lymphangiomyomatosis. |
2001-05-31 |
2023-08-12 |
Not clear |
| N Tapon, N Ito, B J Dickson, J E Treisman, I K Harihara. The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation. Cell. vol 105. issue 3. 2001-05-31. PMID:11348591. |
the inherited human disease tuberous sclerosis, characterized by hamartomatous tumors, results from mutations in either tsc1 or tsc2. |
2001-05-31 |
2023-08-12 |
human |
| M W Johnson, C Kerfoot, T Bushnell, M Li, H V Vinter. Hamartin and tuberin expression in human tissues. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. vol 14. issue 3. 2001-05-17. PMID:11266527. |
tuberous sclerosis (tsc) is a bigenic autosomal dominant disease caused by mutations in one of two tumor-suppressor genes, tsc1 and tsc2, resulting in benign hamartomas and low grade neoplasms in multiple organs including brain, heart, kidney, and skin. |
2001-05-17 |
2023-08-12 |
human |
| M G Catania, M W Johnson, L M Liau, T J Kremen, J S deVellis, H V Vinter. Hamartin expression and interaction with tuberin in tumor cell lines and primary cultures. Journal of neuroscience research. vol 63. issue 3. 2001-04-26. PMID:11170177. |
tuberous sclerosis (tsc) is a neurocutaneous disorder characterized by multi-system hamartomatous lesions, and results from a mutation in tsc1, that encodes hamartin, or tsc2, that encodes tuberin. |
2001-04-26 |
2023-08-12 |
human |
| 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. |
in order to shed light on the structural basis of the preferential dna rearrangements in tsc2 over tsc1 and to assess, in an unselected patient population, the prevalence of large re-arrangements in both tsc loci, we screened 202 tuberous sclerosis patients consecutively referred at our center. |
2001-04-12 |
2023-08-12 |
Not clear |