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Cited by 347

The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

Open access
Tudor, Matthew, Akbarian, Schahram, Chen, Richard Z., Jaenisch, Rudolf·2002·Proceedings of the National Academy of Sciences

Abstract

The Mecp2 gene has been shown to be mutated in most cases of human Rett syndrome, and mouse models deleted for the ortholog have been generated. Lineage-specific deletion of the gene indicated that the Rett-like phenotype is caused by Mecp2 deficiency in neurons. Biochemical evidence suggests that Mecp2 acts as a global transcriptional repressor, predicting that mutant mice should have genome-wide transcriptional deregulation. We tested this hypothesis by comparing global gene expression in wild-type and Mecp2 mutant mice. The results of numerous microarray analyses revealed no dramatic changes in transcription even in mice displaying overt disease symptoms, although statistical power analyses of the data indicated that even a small number of relatively subtle changes in transcription would have been detected if present. However, a classifier consisting of a combined small set of genes was able to distinguish between mutant and wild-type samples with high accuracy. This result suggests that Mecp2 deficiency leads to subtle gene expression changes in mutant brains which may be associated with the phenotypic changes observed.

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Metadata

Authors
Tudor, M., Akbarian, S., Chen, R. Z., & Jaenisch, R.
Venue
Proceedings of the National Academy of Sciences
Published
2002-11-13
Volume
99
Issue
24
Pages
15536-15541
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W1628658472
Cited by
347
References
40
FWCI
12.17
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. https://app.cochat.ai/papers/10.1073/pnas.242566899
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Tudor, M., Akbarian, S., Chen, R. Z., & Jaenisch, R. (2002). Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.242566899

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Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.