From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2-Reference-Cited by-同舟云学术

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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

Published:2016-12 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Sheikh Taimoor I.,Ausió Juan,Faghfoury Hannah,Silver Josh,Lane Jane B.,Eubanks James H.,MacLeod Patrick,Percy Alan K.,Vincent John B.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep38590.pdf

Reference43 articles.

1. Laurvick, C. L. et al. Rett syndrome in Australia: a review of the epidemiology. J. Pediatr. 148, 347–352 (2006).

2. Dragich, J., Houwink-Manville, I. & Schanen,C. Rett syndrome: a surprising result of mutation in MECP2. Hum. Mol. Genet. 9, 2365–2375 (2000).

3. Neul, J. L. et al. Rett Search Consortium: Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68, 944–950 (2010).

4. Amir, R. E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185–188(1999).

5. Lewis, J. D. et al. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell. 69, 905−914 (1992).

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