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Results: 1 to 20 of 104

1.

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.

Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY.

Cell. 2013 Feb 28;152(5):984-96. doi: 10.1016/j.cell.2013.01.038.

PMID:
23452848
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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. Epub 2011 Aug 10.

PMID:
21831886
[PubMed - indexed for MEDLINE]
Free Article
3.

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation.

Jentarra GM, Olfers SL, Rice SG, Srivastava N, Homanics GE, Blue M, Naidu S, Narayanan V.

BMC Neurosci. 2010 Feb 17;11:19. doi: 10.1186/1471-2202-11-19.

PMID:
20163734
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

Nan X, Hou J, Maclean A, Nasir J, Lafuente MJ, Shu X, Kriaucionis S, Bird A.

Proc Natl Acad Sci U S A. 2007 Feb 20;104(8):2709-14. Epub 2007 Feb 12.

PMID:
17296936
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F.

Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13. doi: 10.1089/gtmb.2008.0076.

PMID:
19309283
[PubMed - indexed for MEDLINE]
7.

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY.

Nature. 2010 Nov 11;468(7321):263-9. doi: 10.1038/nature09582.

PMID:
21068835
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. Epub 2011 May 7.

PMID:
21575601
[PubMed - indexed for MEDLINE]
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. Epub 2008 Mar 11.

PMID:
18334558
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Das DK, Mehta B, Menon SR, Raha S, Udani V.

Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15.

PMID:
23242510
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.

Guy J, Hendrich B, Holmes M, Martin JE, Bird A.

Nat Genet. 2001 Mar;27(3):322-6.

PMID:
11242117
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

Gadalla KK, Bailey ME, Cobb SR.

Biochem J. 2011 Oct 1;439(1):1-14. doi: 10.1042/BJ20110648. Review.

PMID:
21916843
[PubMed - indexed for MEDLINE]
15.

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

Buschdorf JP, Strätling WH.

J Mol Med (Berl). 2004 Feb;82(2):135-43. Epub 2003 Nov 15.

PMID:
14618241
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
Free Article
17.

Ocular MECP2 protein expression in patients with and without Rett syndrome.

Jain D, Singh K, Chirumamilla S, Bibat GM, Blue ME, Naidu SR, Eberhart CG.

Pediatr Neurol. 2010 Jul;43(1):35-40. doi: 10.1016/j.pediatrneurol.2010.02.018.

PMID:
20682201
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Spatio-temporal dynamics and localization of MeCP2 and pathological mutants in living cells.

Marchi M, Guarda A, Bergo A, Landsberger N, Kilstrup-Nielsen C, Ratto GM, Costa M.

Epigenetics. 2007 Sep;2(3):187-97. Epub 2007 Sep 18.

PMID:
17965612
[PubMed - indexed for MEDLINE]
Free Article
19.

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome.

McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, Ward CS, Skinner S, Percy AK, Glaze DG, Wehrens XH, Neul JL.

Sci Transl Med. 2011 Dec 14;3(113):113ra125. doi: 10.1126/scitranslmed.3002982.

PMID:
22174313
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice.

Jugloff DG, Vandamme K, Logan R, Visanji NP, Brotchie JM, Eubanks JH.

Hum Mol Genet. 2008 May 15;17(10):1386-96. doi: 10.1093/hmg/ddn026. Epub 2008 Jan 25.

PMID:
18223199
[PubMed - indexed for MEDLINE]
Free Article

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