Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jeffrey E. DeClue"'
Autor:
Hongzhen Li, Peter B. Crino, Wen Li, David H. Gutmann, Erik J. Uhlmann, Jeffrey E. DeClue, Kevin C. Ess
Publikováno v:
Glia. 46:28-40
Individuals with tuberous sclerosis complex (TSC) exhibit a variety of neurologic abnormalities, including mental retardation, epilepsy, and autism. Examination of human TSC brains demonstrate dysplastic astrocytes and neurons, areas of abnormal neur
Autor:
Jeffrey E. DeClue, Steven Kaddu, Phuong-Anh Vu, Michael W. Johnson, Matthias Volkenandt, Harry V. Vinters, Christian A. Sander, Heidi Rust, Ingrid Fackler, Ralf Wienecke, Heinz Kutzner, Arno Rütten
Publikováno v:
Journal of Cutaneous Pathology. 30:174-177
Background: 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
Autor:
Ralf Wienecke, Neil A. Swanson, Eckart Klemm, Sarolta Karparti, Jeffrey E. DeClue, Andrew Green
Publikováno v:
Journal of Cutaneous Pathology. 29:287-290
Background: 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
Autor:
Raymond S. Yeung, Ralf Wienecke, Jeffrey E. DeClue, Michael J. Flaig, Ingrid Fackler, Adelheid Rust, Christian A. Sander, Matthias Volkenandt, Phuong-Anh Nguyen-Vu
Publikováno v:
Journal of Cutaneous Pathology. 28:470-475
Background: Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder associated with an alteration of the TSC2 tumor suppressor gene which encodes for the protein product tuberin. The disease is characterized by the development
Autor:
Giovanna Benvenuto, Nancy Ratner, Bo Ling, William C. Vass, David Viskochil, Shaowei Li, Sue C. Heffelfinger, Jeffrey E. DeClue, Wen Rui
Publikováno v:
Journal of Clinical Investigation. 105:1233-1241
We have found that EGF-R expression is associated with the development of the Schwann cell-derived tumors characteristic of neurofibromatosis type 1 (NF1) and in animal models of this disease. This is surprising, because Schwann cells normally lack E
Publikováno v:
Journal of Biological Chemistry. 272:29301-29308
Tuberous sclerosis is an autosomal dominant disorder characterized by the development of benign growths in many tissues and organs. Linkage analysis revealed two disease-determining genes on chromosome 9 and chromosome 16. The TSC2 gene on chromosome
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
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
Publikováno v:
Proceedings of the National Academy of Sciences. 90:5539-5543
The NF1 gene, which is altered in patients with type 1 neurofibromatosis, encodes neurofibromin, a protein whose GTPase-activating function can negatively regulate GTP-Ras by accelerating its conversion to inactive GDP-Ras. In schwannoma cell lines f
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