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Items: 1 to 20 of 152

1.

MeCP2 Rett mutations affect large scale chromatin organization.

Agarwal N, Becker A, Jost KL, Haase S, Thakur BK, Brero A, Hardt T, Kudo S, Leonhardt H, Cardoso MC.

Hum Mol Genet. 2011 Nov 1;20(21):4187-95. doi: 10.1093/hmg/ddr346.

2.

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.

Buschdorf JP, Str├Ątling WH.

J Mol Med (Berl). 2004 Feb;82(2):135-43.

PMID:
14618241
3.

MeCP2 dysfunction in Rett syndrome and related disorders.

Moretti P, Zoghbi HY.

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

PMID:
16647848
4.

MeCP2: structure and function.

Adkins NL, Georgel PT.

Biochem Cell Biol. 2011 Feb;89(1):1-11. doi: 10.1139/O10-112. Review.

PMID:
21326358
5.

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
6.

MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome.

Nikitina T, Ghosh RP, Horowitz-Scherer RA, Hansen JC, Grigoryev SA, Woodcock CL.

J Biol Chem. 2007 Sep 21;282(38):28237-45.

7.

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.

Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T.

Nat Genet. 2005 Jan;37(1):31-40.

PMID:
15608638
8.

Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization.

Casas-Delucchi CS, Becker A, Bolius JJ, Cardoso MC.

Nucleic Acids Res. 2012 Dec;40(22):e176. doi: 10.1093/nar/gks784.

9.

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.

Kumar A, Kamboj S, Malone BM, Kudo S, Twiss JL, Czymmek KJ, LaSalle JM, Schanen NC.

J Cell Sci. 2008 Apr 1;121(Pt 7):1128-37. doi: 10.1242/jcs.016865.

10.

Rett syndrome: a surprising result of mutation in MECP2.

Dragich J, Houwink-Manville I, Schanen C.

Hum Mol Genet. 2000 Oct;9(16):2365-75. Review.

11.

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.

Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K.

Clin Genet. 2008 Mar;73(3):257-61. doi: 10.1111/j.1399-0004.2007.00944.x.

PMID:
18190595
12.

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F; Tunisian network on mental retardation study..

Biochem Biophys Res Commun. 2011 Jun 3;409(2):270-4. doi: 10.1016/j.bbrc.2011.04.140.

PMID:
21575601
13.

Functional consequences of Rett syndrome mutations on human MeCP2.

Yusufzai TM, Wolffe AP.

Nucleic Acids Res. 2000 Nov 1;28(21):4172-9.

14.

The neurobiology of Rett syndrome.

Akbarian S.

Neuroscientist. 2003 Feb;9(1):57-63. Review.

PMID:
12580340
15.

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.

Nat Genet. 1999 Oct;23(2):185-8.

PMID:
10508514
16.
17.

[Functional significance of MeCP2 mutations in patients with Rett syndrome].

Kudo S.

No To Hattatsu. 2002 May;34(3):224-9. Japanese.

PMID:
12030011
18.

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

Raizis AM, Saleem M, MacKay R, George PM.

N Z Med J. 2009 Jun 5;122(1296):21-8.

PMID:
19652677
19.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

Brain Dev. 2001 Dec;23 Suppl 1:S138-43.

PMID:
11738860
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