Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Jeffrey E. DeClue"'
Autor:
Hongzhen Li, Shaowei Li, Richard Braverman, Douglas R. Lowy, William C. Vass, Jeffrey E. DeClue
Publikováno v:
Molecular Carcinogenesis. 37:98-109
We investigated the effects of overexpression of the tuberous sclerosis-1 and -2 (TSC1/2) gene products (hamartin and tuberin, respectively) in the human kidney epithelial cell line 293 with an inducible expression system. As we had observed previous
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:
Ingrid, Fackler, Jeffrey E, DeClue, Heidi, Rust, Phuong-Anh, Vu, Heinz, Kutzner, Arno, Rütten, Steven, Kaddu, Christian A, Sander, Matthias, Volkenandt, Michael W, Johnson, Harry V, Vinters, Ralf, Wienecke
Publikováno v:
Journal of cutaneous pathology. 30(3)
Angiofibromas occur sporadically, and they develop in most patients with tuberous sclerosis complex (TSC), which is associated with alterations of the tumor suppressor genes TSC1 or TSC2. Loss of tuberin, the protein product of TSC2, has been shown i
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:
Jessica K. Emelin, Jeffrey E. DeClue, Christopher Kerfoot, Steven N. Roper, Michael Catania, Harry V. Vinters
Publikováno v:
Epilepsy research. 32(1-2)
Cortical dysplasia (CD) broadly defines a complex cerebral malformative lesion associated clinically with intractable, pharmacoresistant epilepsy (including infantile spasms), especially in infants and children. In CD, the spectrum of structural brai