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Gene expression profile of the cereb...
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Stanford University.
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Gene expression profile of the cerebellum of MeCP2-deficient mice.
Record Type:
Language materials, printed : Monograph/item
Title/Author:
Gene expression profile of the cerebellum of MeCP2-deficient mice./
Author:
Jordan, ChaRandle.
Description:
106 p.
Notes:
Adviser: Uta Francke.
Contained By:
Dissertation Abstracts International68-12B.
Subject:
Biology, Genetics. -
Online resource:
http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3292375
ISBN:
9780549353874
Gene expression profile of the cerebellum of MeCP2-deficient mice.
Jordan, ChaRandle.
Gene expression profile of the cerebellum of MeCP2-deficient mice.
- 106 p.
Adviser: Uta Francke.
Thesis (Ph.D.)--Stanford University, 2008.
Rett Syndrome (RTT) is a neurodevelopmental disorder that is one of the leading genetic causes of mental retardation in girls. Girls with classic RTT lack speech, lack purposeful hand use, have acquired microcephaly and seizures and various other anomalies. The only current treatment for RTT patients is supportive therapy.
ISBN: 9780549353874Subjects--Topical Terms:
1017730
Biology, Genetics.
Gene expression profile of the cerebellum of MeCP2-deficient mice.
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Gene expression profile of the cerebellum of MeCP2-deficient mice.
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106 p.
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Adviser: Uta Francke.
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Source: Dissertation Abstracts International, Volume: 68-12, Section: B, page: 7780.
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Thesis (Ph.D.)--Stanford University, 2008.
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Rett Syndrome (RTT) is a neurodevelopmental disorder that is one of the leading genetic causes of mental retardation in girls. Girls with classic RTT lack speech, lack purposeful hand use, have acquired microcephaly and seizures and various other anomalies. The only current treatment for RTT patients is supportive therapy.
520
$a
The discovery of MECP2 as the defective gene in RTT patients offered new hope to better understand the pathophysiology of the disorder and to move us closer to treatment. Mouse models with Mecp2 mutations were generated and their brain was analyzed. These investigations did not point to specific pathways that could be therapeutically altered. MeCP2 protein is a methyl-CpG binding protein that is associated with heterochromatin and represses transcription in vitro. Several expression studies on Mecp2-deficient mouse brain and on MECP2 -deficient human cell lines were performed, but few consistent expression changes were found in mutant mice.
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This project evaluates gene expression in the cerebellum of two Mecp2-deficient mouse models. Consistent with previous studies in other brain regions, Mecp2 deficiency does not significantly alter global transcription in mouse cerebellum. We found small expression changes in a few genes. We show that the MeCP2 protein associates with the promoter region of some of these genes, suggesting that MeCP2 directly influences the expression of these genes.
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http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3292375
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