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Items: 1 to 20 of 466

1.

The molecular pathology of Rett syndrome: synopsis and update.

Akbarian S, Jiang Y, Laforet G.

Neuromolecular Med. 2006;8(4):485-94. Review.

PMID:
17028371
2.

MeCP2 dysfunction in Rett syndrome and related disorders.

Moretti P, Zoghbi HY.

Curr Opin Genet Dev. 2006 Jun;16(3):276-81. Epub 2006 May 2. Review.

PMID:
16647848
3.

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.

Chen RZ, Akbarian S, Tudor M, Jaenisch R.

Nat Genet. 2001 Mar;27(3):327-31.

PMID:
11242118
4.

The story of Rett syndrome: from clinic to neurobiology.

Chahrour M, Zoghbi HY.

Neuron. 2007 Nov 8;56(3):422-37. Review.

5.
6.

Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.

Alvarez-Saavedra M, Sáez MA, Kang D, Zoghbi HY, Young JI.

Hum Mol Genet. 2007 Oct 1;16(19):2315-25. Epub 2007 Jul 17.

PMID:
17635839
7.

MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.

Kaufmann WE, Johnston MV, Blue ME.

Brain Dev. 2005 Nov;27 Suppl 1:S77-S87. Epub 2005 Sep 22. Review.

PMID:
16182491
8.

Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.

Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y.

J Neuropathol Exp Neurol. 2007 Feb;66(2):117-23.

PMID:
17278996
9.

Identification of cis-regulatory elements for MECP2 expression.

Liu J, Francke U.

Hum Mol Genet. 2006 Jun 1;15(11):1769-82. Epub 2006 Apr 13.

PMID:
16613900
10.

A segment of the Mecp2 promoter is sufficient to drive expression in neurons.

Adachi M, Keefer EW, Jones FS.

Hum Mol Genet. 2005 Dec 1;14(23):3709-22. Epub 2005 Oct 26.

PMID:
16251199
11.

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R, Fraga MF, Herranz M, Avila S, Pineda M, Monros E, Esteller M.

Hum Genet. 2005 Jan;116(1-2):91-104. Epub 2004 Nov 11.

PMID:
15549394
12.

Rett syndrome: from the gene to the disease.

Matijevic T, Knezevic J, Slavica M, Pavelic J.

Eur Neurol. 2009;61(1):3-10. doi: 10.1159/000165342. Epub 2008 Oct 24. Review.

13.

MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy.

Rastegar M, Hotta A, Pasceri P, Makarem M, Cheung AY, Elliott S, Park KJ, Adachi M, Jones FS, Clarke ID, Dirks P, Ellis J.

PLoS One. 2009 Aug 27;4(8):e6810. doi: 10.1371/journal.pone.0006810.

14.

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.

Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP.

Ment Retard Dev Disabil Res Rev. 2002;8(2):99-105. Review.

PMID:
12112735
15.

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U.

Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. Review.

PMID:
16932552
16.

Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons.

Tao J, Wu H, Sun YE.

Int Rev Neurobiol. 2009;89:147-60. doi: 10.1016/S0074-7742(09)89007-7. Review.

PMID:
19900619
17.

Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.

Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY.

J Neurosci. 2006 Jan 4;26(1):319-27.

18.

The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

Chang Q, Khare G, Dani V, Nelson S, Jaenisch R.

Neuron. 2006 Feb 2;49(3):341-8.

19.

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M.

J Med Genet. 2003 Jul;40(7):487-93.

20.

A methyl-CpG-binding protein 2-enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome.

Schmid RS, Tsujimoto N, Qu Q, Lei H, Li E, Chen T, Blaustein CS.

Neuroreport. 2008 Mar 5;19(4):393-8. doi: 10.1097/WNR.0b013e3282f5661c.

PMID:
18287934

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