-
1
-
-
0004102014
-
-
Oxford University press, Oxford, UK
-
Gomez, M.R., Sampson, J.R. and Whittemore, V.H. (1999) The Tuberous sclerosis complex. Oxford University press, Oxford, UK.
-
(1999)
The Tuberous Sclerosis Complex
-
-
Gomez, M.R.1
Sampson, J.R.2
Whittemore, V.H.3
-
2
-
-
0025768465
-
Epidemiology of tuberous sclerosis
-
Osborne, J. P., Fryer, A. and Webb, D. (1991) Epidemiology of tuberous sclerosis. Ann. N. Y. Acad. Sci., 615, 125-127.
-
(1991)
Ann. N. Y. Acad. Sci.
, vol.615
, pp. 125-127
-
-
Osborne, J.P.1
Fryer, A.2
Webb, D.3
-
3
-
-
0033817428
-
Molecular genetic advances in tuberous sclerosis
-
Cheadle, J.P., Reeve, M.P., Sampson, J.R. and Kwiatkowski, D.J. (2000) Molecular genetic advances in tuberous sclerosis. Hum. Genet., 107, 97-114.
-
(2000)
Hum. Genet.
, vol.107
, pp. 97-114
-
-
Cheadle, J.P.1
Reeve, M.P.2
Sampson, J.R.3
Kwiatkowski, D.J.4
-
4
-
-
0015043748
-
Mutation and cancer: Statistical study of retinoblastoma
-
Knudson, A.G., Jr. (1971) Mutation and cancer: Statistical study of retinoblastoma. Proc. Natl Acad. Sci. USA, 68, 820-823.
-
(1971)
Proc. Natl. Acad. Sci. USA
, vol.68
, pp. 820-823
-
-
Knudson Jr., A.G.1
-
5
-
-
7144255533
-
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
-
van Slegtenhorst, M., Nellist, M., Nagelkerken, B., Cheadle, J., Snell, R., van den Ouweland, A., Reuser, A., Sampson, J., Halley, D. and van der Sluijs, P. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Mol. Genet., 7, 1053-1057.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1053-1057
-
-
van Slegtenhorst, M.1
Nellist, M.2
Nagelkerken, B.3
Cheadle, J.4
Snell, R.5
van den Ouweland, A.6
Reuser, A.7
Sampson, J.8
Halley, D.9
van der Sluijs, P.10
-
6
-
-
0038540963
-
United at last: The tuberous sclerosis complex gene products connect the phosphoinositide 3-kinase/Akt pathway to mammalian target of rapamycin (mTOR) signalling
-
Manning, B.D. and Cantley, L.C. (2003) United at last: The tuberous sclerosis complex gene products connect the phosphoinositide 3-kinase/ Akt pathway to mammalian target of rapamycin (mTOR) signalling. Biochem. Soc. Trans., 31, 573-578.
-
(2003)
Biochem. Soc. Trans.
, vol.31
, pp. 573-578
-
-
Manning, B.D.1
Cantley, L.C.2
-
7
-
-
0035902509
-
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
-
Kobayashi, T., Minowa, O., Sugitani, Y., Takai, S., Mitani, H., Kobayashi, E., Noda, T. and Hino, O. (2001) 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. Proc. Natl Acad. Sci. USA, 98, 8762-8767.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 8762-8767
-
-
Kobayashi, T.1
Minowa, O.2
Sugitani, Y.3
Takai, S.4
Mitani, H.5
Kobayashi, E.6
Noda, T.7
Hino, O.8
-
8
-
-
0036501277
-
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
-
Kwiatkowski, D.J., Zhang, H., Bandura, J.L., Heiberger, K.M., Glogauer, M., el-Hashemite, N. and Onda, H. (2002) A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Hum. Mol. Genet., 11, 525-534.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 525-534
-
-
Kwiatkowski, D.J.1
Zhang, H.2
Bandura, J.L.3
Heiberger, K.M.4
Glogauer, M.5
el-Hashemite, N.6
Onda, H.7
-
9
-
-
0032741978
-
Tsc2(+/-) mice develop honors in multiple sites that express gelsolin and are influenced by genetic background
-
Onda, H., Lueck, A., Marks, P.W., Warren, H.B. and Kwiatkowski, D.J. (1999) Tsc2(+/-) mice develop honors in multiple sites that express gelsolin and are influenced by genetic background. J. Clin. Invest., 104, 687-695.
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 687-695
-
-
Onda, H.1
Lueck, A.2
Marks, P.W.3
Warren, H.B.4
Kwiatkowski, D.J.5
-
10
-
-
0033559663
-
Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice
-
Kobayashi, T., Minowa, O., Kuno, J., Mitani, H., Hino, O. and Noda, T. (1999) Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice. Cancer Res., 59, 1206-1211.
-
(1999)
Cancer Res.
, vol.59
, pp. 1206-1211
-
-
Kobayashi, T.1
Minowa, O.2
Kuno, J.3
Mitani, H.4
Hino, O.5
Noda, T.6
-
11
-
-
0033365408
-
Comprehensive mutation analysis of Tsc1 and Tsc2 and phenotypic correlations in 150 families with tuberous sclerosis
-
Jones, A.C., Shyamsundar, M.M., Thomas, M.W., Maynard, J., Idziaszczyk, S., Tomkins, S., Sampson, J.R. and Cheadle, J.P. (1999) Comprehensive mutation analysis of Tsc1 and Tsc2 and phenotypic correlations in 150 families with tuberous sclerosis. Am. J. Hum. Genet., 64, 1305-1315.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
12
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of Tsc2, compared with Tsc1, disease in multiple organs
-
Dabora, S.L., Jozwiak. S., Franz, D.N., Roberts, P.S., Nieto, A., Chung, J., Choy, Y.S., Reeve, M.P., Thiele, E., Egelhoff, J.C. et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of Tsc2, compared with Tsc1, disease in multiple organs. Am. J. Hum. Genet., 68, 64-80.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
Roberts, P.S.4
Nieto, A.5
Chung, J.6
Choy, Y.S.7
Reeve, M.P.8
Thiele, E.9
Egelhoff, J.C.10
-
13
-
-
0028830856
-
A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer
-
Kobayashi, T., Hirayama, Y., Kobayashi, E., Kubo. Y. and Hino, O. (1995) A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Nat. Genet., 9, 70-74.
-
(1995)
Nat. Genet.
, vol.9
, pp. 70-74
-
-
Kobayashi, T.1
Hirayama, Y.2
Kobayashi, E.3
Kubo, Y.4
Hino, O.5
-
14
-
-
0026470327
-
Hereditary renal cell carcinoma in the Eker rat: A rodent familial cancer syndrome
-
Everitt, J.I., Goldsworthy, T.L., Wolf, D.C. and Walker, C.L. (1992) Hereditary renal cell carcinoma in the Eker rat: A rodent familial cancer syndrome. J. Urol., 148, 1932-1936.
-
(1992)
J. Urol.
, vol.148
, pp. 1932-1936
-
-
Everitt, J.I.1
Goldsworthy, T.L.2
Wolf, D.C.3
Walker, C.L.4
-
15
-
-
0034095926
-
Novel cerebral lesions in the Eker rat model of tuberous sclerosis: Cortical tuber and anaplastic ganglioglioma
-
Mizuguchi, M., Takashima, S., Yamanouchi, H., Nakazato, Y., Mitani, H. and Hino, O. (2000) Novel cerebral lesions in the Eker rat model of tuberous sclerosis: Cortical tuber and anaplastic ganglioglioma. J. Neuropathol. Exp. Neurol., 59, 188-196.
-
(2000)
J. Neuropathol. Exp. Neurol.
, vol.59
, pp. 188-196
-
-
Mizuguchi, M.1
Takashima, S.2
Yamanouchi, H.3
Nakazato, Y.4
Mitani, H.5
Hino, O.6
-
16
-
-
0033646513
-
Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus
-
Cheadle, J.P., Dobbie, L., Idziaszczyk, S., Hodges. A.K., Smith, A.J., Sampson, J.R. and Young, J. (2000) Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mamm. Genome, 11, 135-138.
-
(2000)
Mamm. Genome
, vol.11
, pp. 135-138
-
-
Cheadle, J.P.1
Dobbie, L.2
Idziaszczyk, S.3
Hodges, A.K.4
Smith, A.J.5
Sampson, J.R.6
Young, J.7
-
17
-
-
0029920145
-
Two genetically separable steps in the differentiation of thymic epithelium
-
Nehls, M., Kyewski, B., Messerle, M., Waldschutz, R., Schuddekopf, K., Smith, A.J.H. and Boehm, T. (1996) Two genetically separable steps in the differentiation of thymic epithelium. Science, 272, 886-889.
-
(1996)
Science
, vol.272
, pp. 886-889
-
-
Nehls, M.1
Kyewski, B.2
Messerle, M.3
Waldschutz, R.4
Schuddekopf, K.5
Smith, A.J.H.6
Boehm, T.7
-
18
-
-
0035834136
-
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene
-
Boulter, C., Mulroy, S., Webb, S., Fleming, S., Brindle, K. and Sandford, R. (2001) Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc. Natl Acad. Sci. USA, 98, 12174-12179.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 12174-12179
-
-
Boulter, C.1
Mulroy, S.2
Webb, S.3
Fleming, S.4
Brindle, K.5
Sandford, R.6
-
19
-
-
22344432068
-
Altered gene expression in phenotypically normal renal cells from carriers of tumor suppressor gene mutations
-
Stoyanova, R., Clapper, M.L., Bellacosa, A., Henske, E.P., Testa, J.R., Ross, E.A., Yeung, A.T., Nicolas, E., Tsichlis, N., Li, Y.S. et al. (2004) Altered gene expression in phenotypically normal renal cells from carriers of tumor suppressor gene mutations. Cancer Biol. Ther. 3, 1313-1321.
-
(2004)
Cancer Biol. Ther.
, vol.3
, pp. 1313-1321
-
-
Stoyanova, R.1
Clapper, M.L.2
Bellacosa, A.3
Henske, E.P.4
Testa, J.R.5
Ross, E.A.6
Yeung, A.T.7
Nicolas, E.8
Tsichlis, N.9
Li, Y.S.10
-
20
-
-
1542327631
-
Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: Lessons from 'fierce' mice
-
Kumar, R.A., Chan, K.L., Wong, A.H., Little, K.Q., Rajcan-Separovic, E., Abrahams, B.S. and Simpson, E.M. (2004) Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: Lessons from 'fierce' mice. Genesis, 38, 51-57.
-
(2004)
Genesis
, vol.38
, pp. 51-57
-
-
Kumar, R.A.1
Chan, K.L.2
Wong, A.H.3
Little, K.Q.4
Rajcan-Separovic, E.5
Abrahams, B.S.6
Simpson, E.M.7
-
21
-
-
9744224401
-
The genetic basis of kidney cancer: Why is tuberous sclerosis complex often overlooked?
-
Henske, E.P. (2004) The genetic basis of kidney cancer: Why is tuberous sclerosis complex often overlooked? Curr. Mol. Med., 4, 825-831.
-
(2004)
Curr. Mol. Med.
, vol.4
, pp. 825-831
-
-
Henske, E.P.1
-
22
-
-
0029834567
-
Tuberous sclerosis associated renal cell carcinoma. Clinical, pathological, and genetic features
-
Bjornsson, J., Short, M.P., Kwiatkowski, D.J. and Henske, E.P. (1996) Tuberous sclerosis associated renal cell carcinoma. Clinical, pathological, and genetic features. Am. J. Pathol., 149, 1201-1208.
-
(1996)
Am. J. Pathol.
, vol.149
, pp. 1201-1208
-
-
Bjornsson, J.1
Short, M.P.2
Kwiatkowski, D.J.3
Henske, E.P.4
-
23
-
-
0028950996
-
A site-directed chromosomal translocation induced in embryonic stem cells by Cre-loxP recombination
-
Smith, A.J.H., De Sousa, M.A., Kwabi-Addo, B., Heppell-Parton, A., Impey, H. and Rabbitts, P. (1995) A site-directed chromosomal translocation induced in embryonic stem cells by Cre-loxP recombination. Nat. Genet., 9, 376-385.
-
(1995)
Nat. Genet.
, vol.9
, pp. 376-385
-
-
Smith, A.J.H.1
De Sousa, M.A.2
Kwabi-Addo, B.3
Heppell-Parton, A.4
Impey, H.5
Rabbitts, P.6
-
24
-
-
0024296027
-
Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: A general strategy for targeting mutations to non-selectable genes
-
Mansour, S.L., Thomas, K.R. and Capecchi, M.R. (1988) Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: A general strategy for targeting mutations to non-selectable genes. Nature, 336, 348-352.
-
(1988)
Nature
, vol.336
, pp. 348-352
-
-
Mansour, S.L.1
Thomas, K.R.2
Capecchi, M.R.3
|