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Your search keyword '"Oshima, Junko"' showing total 8 results
Start Over Author "Oshima, Junko" Journal human genetics
8 results on '"Oshima, Junko"'

1. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Author

Friedrich, Katrin, Lee, Lin, Leistritz, Dru F., Nürnberg, Gudrun, Saha, Bidisha, Hisama, Fuki M., Eyman, Daniel K., Lessel, Davor, Nürnberg, Peter, Li, Chumei, Garcia-F-Villalta, María J., Kets, Carolien M., Schmidtke, Joerg, Cruz, Vítor Tedim, Van den Akker, Peter C., Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, López, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F., Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M., Kubisch, Christian, and Oshima, Junko

Published
2010
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7. Evidence against DNA polymerase ? as a candidate gene for Werner syndrome

Author

Chang, Ming, primary, Burmer, GlennaC., additional, Sweasy, Joann, additional, Loeb, LawrenceA., additional, Edelhoff, Susanne, additional, Disteche, ChristineM., additional, Yu, Chang-En, additional, Anderson, Leojean, additional, Oshima, Junko, additional, Nakura, Jun, additional, Miki, Tetsuro, additional, Kamino, Kouzin, additional, Ogihara, Toshio, additional, Schellenberg, GerardD., additional, and Martin, GeorgeM., additional

Published
1994
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8. Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference.

Author

Shurong Huang, Lishan Chen, Libina, Nataliya, Janes, Joel, Martin, George M., Campisi, Judith, and Oshima, Junko

Subjects
PROGERIA, RNA, CORONARY arteries, ATHEROSCLEROSIS, GENE therapy, GENETIC mutation
Abstract

The great majority of cases of the Hutchinson-Gilford progeroid syndrome (HGPS) (“Progeria of Childhood‘’) are caused by a single nucleotide mutation (1824 C->T) in the LMNA gene which encodes lamin A and C, nuclear intermediate filaments that are important components of the nuclear lamina. The resultant mutant protein (Δ50 lamin A) is thought to act in a dominant fashion. We exploited RNA interference technology to suppress Δ50 lamin A expression, with the long range goal of intervening in the pathogenesis of the coronary artery atherosclerosis that typically leads to the death of HGPS patients. Short hairpin RNA (shRNA) constructs were designed to target the mutated pre-spliced or mature LMNA mRNAs, and were expressed in HGPS fibroblasts carrying the 1824 C->T mutations using lentiviruses. One of the shRNAs targeted to the mutated mRNA reduced the expression levels of Δ50 lamin A to 26% or lower. The reduced expression was associated with amelioration of abnormal nuclear morphology, improvement of proliferative potential, and reduction in the numbers of senescent cells. These findings provide a rationale for potential gene therapy. [ABSTRACT FROM AUTHOR]

Published
2005
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