| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| I van Bakel, T Sepp, S Ward, J R Yates, A J Gree. Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Human molecular genetics. vol 6. issue 9. 1998-02-02. PMID:9285776. |
mutations in the tsc2 gene on chromosome 16p13.3 are responsible for approximately 50% of familial tuberous sclerosis (tsc). |
1998-02-02 |
2023-08-12 |
Not clear |
| L Longa, A Brusco, C Carbonara, S Polidoro, F Scolari, B Valzorio, P Riegler, R Tardanico, N Migon. A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease. Contributions to nephrology. vol 122. 1998-01-27. PMID:9399046. |
a tuberous sclerosis patient with a large tsc2 and pkd1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease. |
1998-01-27 |
2023-08-12 |
Not clear |
| M M Maheshwar, J P Cheadle, A C Jones, J Myring, A E Fryer, P C Harris, J R Sampso. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human molecular genetics. vol 6. issue 11. 1998-01-02. PMID:9302281. |
the gap-related domain of tuberin, the product of the tsc2 gene, is a target for missense mutations in tuberous sclerosis. |
1998-01-02 |
2023-08-12 |
human |
| M M Maheshwar, J P Cheadle, A C Jones, J Myring, A E Fryer, P C Harris, J R Sampso. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human molecular genetics. vol 6. issue 11. 1998-01-02. PMID:9302281. |
the tsc2 gene is one of two genes determining tuberous sclerosis. |
1998-01-02 |
2023-08-12 |
human |
| M M Maheshwar, J P Cheadle, A C Jones, J Myring, A E Fryer, P C Harris, J R Sampso. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human molecular genetics. vol 6. issue 11. 1998-01-02. PMID:9302281. |
inactivating germline mutations of tsc2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the tsc2 locus in the associated hamartomas indicate that tsc2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype. |
1998-01-02 |
2023-08-12 |
human |
| A C Jones, C E Daniells, R G Snell, M Tachataki, S A Idziaszczyk, M Krawczak, J R Sampson, J P Cheadl. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human molecular genetics. vol 6. issue 12. 1997-12-19. PMID:9328481. |
molecular genetic and phenotypic analysis reveals differences between tsc1 and tsc2 associated familial and sporadic tuberous sclerosis. |
1997-12-19 |
2023-08-12 |
Not clear |
| R S Yeung, C D Katsetos, A Klein-Szant. Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. The American journal of pathology. vol 151. issue 5. 1997-12-10. PMID:9358774. |
tuberous sclerosis (tsc) is an autosomal dominant syndrome that is linked to two genetic loci: tsc1 (9q34) and tsc2 (16p13). |
1997-12-10 |
2023-08-12 |
human |
| J R Sampson, M M Maheshwar, R Aspinwall, P Thompson, J P Cheadle, D Ravine, S Roy, E Haan, J Bernstein, P C Harri. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American journal of human genetics. vol 61. issue 4. 1997-11-07. PMID:9382094. |
major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, tsc2 and pkd1, respectively, lie adjacent to each other at chromosome 16p13.3, suggesting a role for pkd1 in the etiology of renal cystic disease in tuberous sclerosis. |
1997-11-07 |
2023-08-12 |
Not clear |
| J R Sampson, M M Maheshwar, R Aspinwall, P Thompson, J P Cheadle, D Ravine, S Roy, E Haan, J Bernstein, P C Harri. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American journal of human genetics. vol 61. issue 4. 1997-11-07. PMID:9382094. |
significant renal cystic disease in tuberous sclerosis usually reflects mutational involvement of the pkd1 gene, and mosaicism for large deletions of tsc2 and pkd1 is a frequent phenomenon. |
1997-11-07 |
2023-08-12 |
Not clear |
| T Kobayashi, S Urakami, J P Cheadle, R Aspinwall, P Harris, J R Sampson, O Hin. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian genome : official journal of the International Mammalian Genome Society. vol 8. issue 8. 1997-09-12. PMID:9250859. |
identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (tsc2) gene and structural comparison with the human homolog. |
1997-09-12 |
2023-08-12 |
human |
| T Kobayashi, S Urakami, J P Cheadle, R Aspinwall, P Harris, J R Sampson, O Hin. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian genome : official journal of the International Mammalian Genome Society. vol 8. issue 8. 1997-09-12. PMID:9250859. |
recently, we identified a germline mutation of the tuberous sclerosis 2 (tsc2) gene in the eker rat. |
1997-09-12 |
2023-08-12 |
human |
| R Wienecke, A Guha, J C Maize, R L Heideman, J E DeClue, D H Gutman. Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas. Annals of neurology. vol 42. issue 2. 1997-09-05. PMID:9266734. |
tuberin, the protein product of the tuberous sclerosis complex-2 (tsc2) tumor suppressor gene, has been shown to directly inhibit cell growth and is expressed at high levels in normal central nervous system neurons and astrocytes. |
1997-09-05 |
2023-08-12 |
Not clear |
| R Wienecke, A Guha, J C Maize, R L Heideman, J E DeClue, D H Gutman. Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas. Annals of neurology. vol 42. issue 2. 1997-09-05. PMID:9266734. |
to determine whether tsc2 rna and protein are reduced in astrocytomas from individuals without tuberous sclerosis, reverse transcriptase-polymerase chain reaction and immunoblotting analyses were performed on 49 adult astrocytomas, 10 pediatric astrocytomas, and 13 ependymomas. |
1997-09-05 |
2023-08-12 |
Not clear |
| M Platten, B Meyer-Puttlitz, I Blümcke, A Waha, H K Wolf, M M Nöthen, D N Louis, J R Sampson, A von Deimlin. A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. Journal of neuropathology and experimental neurology. vol 56. issue 7. 1997-08-07. PMID:9210877. |
a novel splice site associated polymorphism in the tuberous sclerosis 2 (tsc2) gene may predispose to the development of sporadic gangliogliomas. |
1997-08-07 |
2023-08-12 |
Not clear |
| M Platten, B Meyer-Puttlitz, I Blümcke, A Waha, H K Wolf, M M Nöthen, D N Louis, J R Sampson, A von Deimlin. A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. Journal of neuropathology and experimental neurology. vol 56. issue 7. 1997-08-07. PMID:9210877. |
the tuberous sclerosis 2 (tsc2) gene is thought to function as a growth suppressor in sporadic and tsc-associated hamartomas and tumors. |
1997-08-07 |
2023-08-12 |
Not clear |
| M Platten, B Meyer-Puttlitz, I Blümcke, A Waha, H K Wolf, M M Nöthen, D N Louis, J R Sampson, A von Deimlin. A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. Journal of neuropathology and experimental neurology. vol 56. issue 7. 1997-08-07. PMID:9210877. |
the fact that both gangliogliomas and cortical tubers in tuberous sclerosis contain neuronal and astrocytic elements and may resemble each other histologically suggests that the tsc2 gene may be involved in the development of these tumors. |
1997-08-07 |
2023-08-12 |
Not clear |
| S Urakami, R Tokuzen, H Tsuda, M Igawa, O Hin. Somatic mutation of the tuberous sclerosis (Tsc2) tumor suppressor gene in chemically induced rat renal carcinoma cell. The Journal of urology. vol 158. issue 1. 1997-07-14. PMID:9186374. |
somatic mutation of the tuberous sclerosis (tsc2) tumor suppressor gene in chemically induced rat renal carcinoma cell. |
1997-07-14 |
2023-08-12 |
human |
| S Urakami, R Tokuzen, H Tsuda, M Igawa, O Hin. Somatic mutation of the tuberous sclerosis (Tsc2) tumor suppressor gene in chemically induced rat renal carcinoma cell. The Journal of urology. vol 158. issue 1. 1997-07-14. PMID:9186374. |
we recently identified a germline mutation in the rat homologue of the human tuberous sclerosis (tsc2) predisposing rc gene in the eker rat model, and in this study we searched for mutations of the tsc2 gene in chemically induced non-eker rat rcs. |
1997-07-14 |
2023-08-12 |
human |
| I van Bakel, T Sepp, J R Yates, A J Gree. An EcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene. Molecular and cellular probes. vol 11. issue 1. 1997-06-04. PMID:9076719. |
an ecorv polymorphism in exon 40 of the tuberous sclerosis 2 (tsc2) gene. |
1997-06-04 |
2023-08-12 |
Not clear |
| T Kobayashi, S Urakami, Y Hirayama, T Yamamoto, M Nishizawa, T Takahara, Y Kubo, O Hin. Intragenic Tsc2 somatic mutations as Knudson's second hit in spontaneous and chemically induced renal carcinomas in the Eker rat model. Japanese journal of cancer research : Gann. vol 88. issue 3. 1997-05-29. PMID:9140109. |
we searched for the rat homologue of the human tuberous sclerosis (tsc2) gene mutations in loss of heterozygosity (loh)-negative eker rat renal carcinomas (rcs) by polymerase chain reaction-single-strand conformational polymorphism (pcr-sscp) analysis using 45 primer sets covering all 41 coding exons and one leader exon including splicing donor/acceptor sites. |
1997-05-29 |
2023-08-12 |
human |