Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Jeffrey E. DeClue"'
Publikováno v:
Oncogene. 15:1611-1616
Several inherited predisposition to cancer syndromes are associated with the development of nervous system tumors. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which affected individuals are at risk for developing astrocytoma
Publikováno v:
Proceedings of the National Academy of Sciences. 93:9154-9159
The Tsc2 gene, which is mutationally inactivated in the germ line of some families with tuberous sclerosis, encodes a large, membrane-associated GTPase activating protein (GAP) designated tuberin. Studies of the Eker rat model of hereditary cancer st
Publikováno v:
Journal of Biological Chemistry. 270:16409-16414
Tuberous sclerosis (TSC) is a human genetic syndrome characterized by the development of benign tumors in a variety of tissues, as well as rare malignancies. Two different genetic loci have been implicated in TSC; one of these loci, the tuberous scle
Autor:
S. Felzmann, D R Lowy, Gangfeng Xu, M. R. Johnson, William C. Vass, R. White, Jeffrey E. DeClue
Publikováno v:
Molecular and Cellular Biology. 14:641-645
The NF1 gene, which is altered in patients with type 1 neurofibromatosis, has been postulated to function as a tumor suppressor gene. The NF1 protein product neurofibromin stimulates the intrinsic GTPase activity of active GTP-bound Ras, thereby inac
Autor:
Jonathan A. Fletcher, Douglas R. Lowy, Nancy Ratner, Scott R. Diehl, William C. Vass, Jeffrey E. DeClue, Alex G. Papageorge
Publikováno v:
Cell. 69:265-273
Tumor cell lines derived from malignant schwannomas removed from patients with neurofibromatosis type 1 (NF1) have been examined for the level of expression of NF1 protein. All three NF1 lines examined expressed lower levels of NF1 protein than contr
Autor:
Ralf, Wienecke, Eckart, Klemm, Sarolta, Karparti, Neil A, Swanson, Andrew J, Green, Jeffrey E, DeClue
Publikováno v:
Journal of cutaneous pathology. 29(5)
Patients affected with tuberous sclerosis complex (TSC) are prone to the development of multiple benign tumors of the skin and other organs. Tuberin, the protein product of the tuberous-sclerosis-complex-2 tumor suppressor gene (TSC2) has been shown
Autor:
Shaowei Li, Jeremy Peter Cheadle, Julie Helen Maynard, Lee Parry, Angela Hodges, Julian R. Sampson, Jeffrey E. DeClue, Richard Braverman
Publikováno v:
Human molecular genetics. 10(25)
Critical functions of hamartin and tuberin, encoded by the TSC1 and TSC2 genes, are likely to be closely linked. The proteins interact directly with one another and mutations affecting either gene result in the tuberous sclerosis phenotype. However,
Autor:
Shaowei Li, Giovanna Benvenuto, Richard Braverman, Jeremy Peter Cheadle, Ralf Wienecke, Jeffrey E. DeClue, William C. Vass, Samantha J. Brown, Julian R. Sampson, Dicky J. J. Halley
Publikováno v:
Oncogene, 19, 6306-6316. Nature Publishing Group
We report here that overexpression of the tuberous sclerosis-1 (TSC1) gene product hamartin results in the inhibition of growth, as well as changes in cell morphology. Growth inhibition was associated with an increase in the endogenous level of the p
Publikováno v:
Genetical research. 74(2)
The murine t complex on chromosome 17 contains a number of homozygous lethal and semi-lethal mutations that disrupt development of the mouse embryo. We recently characterized an embryonic lethality in the rat that results from a germ-line mutation in
Autor:
David H. Gutmann, John C. Maize, Richard L. Heideman, Ralf Wienecke, Jeffrey E. DeClue, Abhijit Guha
Publikováno v:
Annals of neurology. 42(2)
Individuals affected with tuberous sclerosis complex (TSC) develop several benign and malignant tumors at increased frequency, including astrocytomas. Tuberin, the protein product of the tuberous sclerosis complex-2 (TSC2) tumor suppressor gene, has