Zobrazeno 1 - 7
of 7
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:
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
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:
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
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
Autor:
Cynthia T. Welsh, Ralf Wienecke, John C. Maize, Michael Menchine, Margaret G. Norman, Harry V. Vinters, Jeffrey E. DeClue, Christopher Kerfoot, Jessica K. Emelin
Publikováno v:
Brain pathology (Zurich, Switzerland). 6(4)
Tuberous sclerosis (TSC), an autosomal dominant disorder, is characterized by malformations, hamartomas and tumors in various organs including the brain. TSC is genetically linked to two loci: TSC1 on chromosome 9q34 and TSC2 on 16p13.3. TSC2 has bee