| 1 | ATRX, MECP2
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| ATRX Contributes to MeCP2-Mediated Pericentric Heterochromatin Organization during Neural Differentiation
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| Marano D, Fioriniello S, Fiorillo F, Gibbons RJ, D'Esposito M, Della Ragione F.
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| Int J Mol Sci. Oct 29;20(21):5371. doi: 10.3390/ijms20215371 2019
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| 2 | KPNA3, KPNA4, MECP2
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| Affinity for DNA Contributes to NLS Independent Nuclear Localization of MeCP2.
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| Lyst MJ, Ekiert R, Guy J, Selfridge J, Koerner MV, Merusi C, De Sousa D, Bird A.
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| Cell Rep 24(9):2213-2220. doi: 10.1016/j.celrep.2018.07.099.
2018
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| 3 | MECP2, WWC1
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| MECP2 impairs neuronal structure by regulating KIBRA.
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| Williams AA, White R, Siniard A, Corneveaux J, Huentelman M, Duch C.
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| Neurobiol Dis 91:284-91. doi: 10.1016/j.nbd.2016.03.019.
2016
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| 4 | MECP2, PSIP1
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| Specificity of antinuclear autoantibodies recognizing the dense fine speckled nuclear pattern: Preferential targeting of DFS70/LEDGFp75 over its interacting partner MeCP2.
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| Basu A, Woods-Burnham L, Ortiz G, Rios-Colon L, Figueroa J, Albesa R, Andrade LE, Mahler M, Casiano CA.
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| Clin Immunol 161(2):241-50. doi: 10.1016/j.clim.2015.07.014. Epub 2015 Jul 31.
2015
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| 5 | KPNA3, KPNA4, MECP2
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| Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
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| Baker SA, Lombardi LM, Zoghbi HY.
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| J Biol Chem 290(37):22485-93. doi: 10.1074/jbc.M115.658104. Epub 2015 Aug 5.
2015
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| 6 | MECP2, NUDT21
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| NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
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| Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY.
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| Elife 4. doi: 10.7554/eLife.10782.
2015
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| 7 | MECP2, SLC38A1
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| Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity.
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| Jin LW, Horiuchi M, Wulff H, Liu XB, Cortopassi GA, Erickson JD, Maezawa I.
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| J Neurosci. Feb 11;35(6):2516-29. doi: 10.1523/JNEUROSCI.2778-14.2015. 2015
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| 8 | FOXP3, MECP2
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| MeCP2 enforces Foxp3 expression to promote regulatory T cells' resilience to inflammation.
|
| Li C, Jiang S, Liu SQ, Lykken E, Zhao LT, Sevilla J, Zhu B, Li QJ.
|
| Proc Natl Acad Sci U S A roc Natl Acad Sci U S A. 2014 Jun 23. pii: 201401505. [Epub ahead of print]
2014
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| 9 | CDKL5, EIEE2, FOXG1, MECP2, RTT, RTTL1
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| CAGE-defined promoter regions of the genes implicated in Rett Syndrome.
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| Vitezic M, Bertin N, Andersson R, Lipovich L, Kawaji H, Lassmann T, Sandelin A, Heutink P, Goldowitz D, Ha T, Zhang P, Patrizi A, Fagiolini M, Forrest AR, Carninci P, Saxena A.
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| BMC Genomics 15(1):1177. [Epub ahead of print]
2014
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| 10 | HTT, MECP2
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| MeCP2: a novel Huntingtin interactor.
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| McFarland KN, Huizenga MN, Darnell SB, Sangrey GR, Berezovska O, Cha JH, Outeiro TF, Sadri-Vakili G.
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| Hum Mol Genet 23(4):1036-44. doi: 10.1093/hmg/ddt499. Epub 2013 Oct 8.
2014
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| 11 | MECP2, RNF4
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| RING finger protein 4 (RNF4) derepresses gene expression from DNA methylation.
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| Wang Y.
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| J Biol Chem 289(49):33808-13. doi: 10.1074/jbc.C114.611558. Epub 2014 Oct 29.
2014
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| 12 | DUPXQ28, IKBKG, MECP2
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| NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
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| Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L.
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| Eur J Hum Genet 21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18.
2013
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| 13 | MBD2, MECP2
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| Direct homo- and hetero-interactions of MeCP2 and MBD2.
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| Becker A, Allmann L, Hofstätter M, Casà V, Weber P, Lehmkuhl A, Herce HD, Cardoso MC.
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| PLoS One 8(1):e53730. doi: 10.1371/journal.pone.0053730. Epub 2013 Jan 15.
2013
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| 14 | MECP2, RTT
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| Cholesterol metabolism and Rett syndrome pathogenesis.
|
| Nagy G, Ackerman SL.
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| Nat Genet 45(9):965-7. doi: 10.1038/ng.2738.
2013
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| 15 | MECP2, RTT
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| A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.
|
| Buchovecky CM, Turley SD, Brown HM, Kyle SM, McDonald JG, Liu B, Pieper AA, Huang W, Katz DM, Russell DW, Shendure J, Justice MJ.
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| Nat Genet 45(9):1013-20. doi: 10.1038/ng.2714. Epub 2013 Jul 28.
2013
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| 16 | MECP2, RTT
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| 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.
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| Cell 152(5):984-96. doi: 10.1016/j.cell.2013.01.038.
2013
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| 17 | MECP2, UBE3A
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| Ube3a/E6AP is involved in a subset of MeCP2 functions
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| Kim S, Chahrour M, Ben-Shachar S, Lim J.
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| Biochem Biophys Res Commun Jul 19;437(1):67-73. doi: 10.1016/j.bbrc.2013.06.036. Epub 2013 Jun 19. 2013
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| 18 | DUPXQ28, MECP2
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| Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
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| Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.
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| Am J Med Genet A 158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11.
2012
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| 19 | MECP2
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| Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation.
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| Gonzales ML, Adams S, Dunaway KW, LaSalle JM.
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| Mol Cell Biol. 32(14):2894-903 2012
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| 20 | MECP2
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| Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome.
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| Squillaro T, Alessio N, Cipollaro M, Melone MA, Hayek G, Renieri A, Giordano A, Galderisi U.
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| Mol Biol Cell 23(8):1435-45. doi: 10.1091/mbc.E11-09-0784. Epub 2012 Feb 22.
2012
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| 21 | MECP2
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| Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows.
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| Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J, Bird A.
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| Hum Mol Genet 21(17):3806-14. doi: 10.1093/hmg/dds208. Epub 2012 May 31.
2012
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| 22 | MECP2, RTT
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| The phenotype associated with a large deletion on MECP2.
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| Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H.
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| Eur J Hum Genet 20(9):921-7. doi: 10.1038/ejhg.2012.34.
2012
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| 23 | MECP2
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| MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.
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| Mellén M, Ayata P, Dewell S, Kriaucionis S, Heintz N.
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| Cell 151(7):1417-30. doi: 10.1016/j.cell.2012.11.022.
2012
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| 24 | DUPXQ28, MECP2
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| MECP2 duplications in six patients with complex sex chromosome rearrangements.
|
| Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.
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| Eur J Hum Genet 19(4):409-15. Epub 2010 Dec 1.
2011
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| 25 | MECP2, RTT
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| DNA binding restricts the intrinsic conformational flexibility of methyl CpG binding protein 2 (MeCP2).
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| Hansen JC, Wexler BB, Rogers DJ, Hite KC, Panchenko T, Ajith S, Black BE.
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| J Biol Chem 286(21):18938-48. Epub 2011 Apr 4.
2011
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| 26 | MECP2, RTT
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| Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
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| Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J.
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| Hum Mol Genet 20(11):2103-15. Epub 2011 Mar 3.
2011
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| 27 | MECP2, RTT
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| A role for glia in the progression of Rett's syndrome.
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| Lioy DT, Garg SK, Monaghan CE, Raber J, Foust KD, Kaspar BK, Hirrlinger PG, Kirchhoff F, Bissonnette JM, Ballas N, Mandel G.
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| Nature 475(7357):497-500. doi: 10.1038/nature10214.
2011
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| 28 | MECP2, RTT
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| Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome.
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| Kim KY, Hysolli E, Park IH.
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| Proc Natl Acad Sci U S A 108(34):14169-74. Epub 2011 Aug 1.
2011
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| 29 | MECP2
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| Loss of Mecp2 in substantia nigra dopamine neurons compromises the nigrostriatal pathway.
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| Gantz SC, Ford CP, Neve KA, Williams JT.
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| J Neurosci 31(35):12629-37.
2011
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| 30 | MECP2, RTT
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| MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.
|
| Gadalla KK, Bailey ME, Cobb SR.
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| Biochem J 439(1):1-14. doi: 10.1042/BJ20110648. Review.
2011
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| 31 | MECP2
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| 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.
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| Hum Mol Genet. 20(21):4187-95. 2011
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| 32 | HMGN1, MECP2
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| The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice.
|
| Abuhatzira L, Shamir A, Schones DE, Schäffer AA, Bustin M.
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| J Biol Chem 286(49):42051-62. doi: 10.1074/jbc.M111.300541. Epub 2011 Oct 17.
2011
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| 33 | DUPXQ28, MECP2
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| Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications.
|
| Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T.
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| Am J Med Genet A 152A(2):305-12.
2010
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| 34 | DUPXQ28, MECP2
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| Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
|
| Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
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| Eur J Pediatr ur J Pediatr. 2010 Feb 23. [Epub ahead of print]
2010
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| 35 | DUPXQ28, MECP2
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| An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
|
| Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F.
|
| Clin Genet lin Genet. 2010 Mar 1. [Epub ahead of print] No abstract available. PMID: 20236119 2010
|
| 36 | DUPXQ28, MECP2
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| The MECP2 duplication syndrome.
|
| Ramocki MB, Tavyev YJ, Peters SU.
|
| Am J Med Genet A 152A(5):1079-88.PMID: 20425814 2010
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| 37 | MECP2, RETT, RTT
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| Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
|
| Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H.
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| J Med Genet 47(4):242-8. Epub 2009 Nov 12.PMID: 19914908 2010
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| 38 | MECP2, RTT
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| Linking MECP2 and pain sensitivity: the example of Rett syndrome.
|
| Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H.
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| Am J Med Genet A 152A(5):1197-205.PMID: 20425824 2010
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| 39 | MECP2, RTT
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| Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.
|
| Alvarez-Saavedra M, Carrasco L, Sura-Trueba S, Demarchi Aiello V, Walz K, Neto JX, Young JI.
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| Hum Mol Genet 19(11):2177-90. Epub 2010 Mar 4.PMID: 20203171 2010
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| 40 | MECP2
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| MeCP2 in the nucleus accumbens contributes to neural and behavioral responses to psychostimulants.
|
| Deng JV, Rodriguiz RM, Hutchinson AN, Kim IH, Wetsel WC, West AE.
|
| Nat Neurosci. 13(9):1128-36. 2010
|
| 41 | FRG2, MECP2, SLC25A4, YY1
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| The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
|
| Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R, Kilstrup-Nielsen C, Landsberger N.
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| Hum Mol Genet 19(16):3114-23. Epub 2010 May 26.PMID: 20504995 2010
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| 42 | MECP2
|
| MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites.
|
| Ghosh RP, Horowitz-Scherer RA, Nikitina T, Shlyakhtenko LS, Woodcock CL.
|
| Mol Cell Biol 30(19):4656-70. Epub 2010 Aug 2.
2010
|
| 43 | MECP2
|
| 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 468(7321):263-9.
2010
|
| 44 | MECP2, RTT
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| A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.
|
| Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, Chen G, Gage FH, Muotri AR.
|
| Cell 143(4):527-39. 2010
|
| 45 | MECP2, SLC6A2, SMARCA2
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| Alleviating transcriptional inhibition of the norepinephrine slc6a2 transporter gene in depolarized neurons.
|
| Harikrishnan KN, Bayles R, Ciccotosto GD, Maxwell S, Cappai R, Pelka GJ, Tam PP, Christodoulou J, El-Osta A.
|
| J Neurosci 30(4):1494-501.
2010
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| 46 | MECP2
|
| Cross talk between microRNA and epigenetic regulation in adult neurogenesis.
|
| Szulwach KE, Li X, Smrt RD, Li Y, Luo Y, Lin L, Santistevan NJ, Li W, Zhao X, Jin P.
|
| J Cell Biol. 189(1):127-41. 2010
|
| 47 | MBD2, MECP2
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| MBD2 and MeCP2 regulate distinct transitions in the stage-specific differentiation of olfactory receptor neurons.
|
| Macdonald JL, Verster A, Berndt A, Roskams AJ.
|
| Mol Cell Neurosci 44(1):55-67. doi: 10.1016/j.mcn.2010.02.003. Epub 2010 Feb 24.
2010
|
| 48 | DUPXQ28, MECP2
|
| De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.
|
| Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT.
|
| Clin Dysmorphol 18(1):9-12.
2009
|
| 49 | DUPXQ28, MECP2
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| The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.
|
| Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C.
|
| Clin Genet 75(3):301-3. Epub 2008 Nov 1. No abstract available.
2009
|
| 50 | MECP2
|
| A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
|
| Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF.
|
| Hum Genet 124(6):615-23. Epub 2008 Nov 7.
2009
|
| 51 | DUPXQ28, MECP2, RTTM
|
| Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
|
| Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.
|
| Eur J Hum Genet 17(4):444-53. Epub 2008 Nov 5. 2009
|
| 52 | DUPXQ28, MECP2
|
| Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.
|
| Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A.
|
| Clin Dysmorphol 18(2):78-82.
2009
|
| 53 | EGR2, MECP2, RTT
|
| Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
|
| Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM.
|
| Hum Mol Genet 18(3):525-34. Epub 2008 Nov 10.
2009
|
| 54 | DUPXQ28, MECP2
|
| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
|
| Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR.
|
| Hum Mol Genet 18(12):2188-203. Epub 2009 Mar 26.
2009
|
| 55 | MECP2
|
| Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.
|
| Tao J, Hu K, Chang Q, Wu H, Sherman NE, Martinowich K, Klose RJ, Schanen C, Jaenisch R, Wang W, Sun YE.
|
| Proc Natl Acad Sci U S A 106(12):4882-7. Epub 2009 Feb 18.
2009
|
| 56 | MECP2
|
| A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.
|
| Joyner AH, J CR, Bloss CS, Bakken TE, Rimol LM, Melle I, Agartz I, Djurovic S, Topol EJ, Schork NJ, Andreassen OA, Dale AM.
|
| Proc Natl Acad Sci U S A 106(36):15483-8. Epub 2009 Aug 26.PMID: 19717458 2009
|
| 57 | DUPXQ28, MECP2
|
| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
|
| Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY.
|
| Ann Neurol 66(6):771-82.
2009
|
| 58 | HIPK2, MECP2
|
| Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis.
|
| Bracaglia G, Conca B, Bergo A, Rusconi L, Zhou Z, Greenberg ME, Landsberger N, Soddu S, Kilstrup-Nielsen C.
|
| EMBO Rep 10(12):1327-33. Epub 2009 Oct 9.PMID: 19820693 2009
|
| 59 | DUPXQ28, MECP2
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| Neurologic aspects of MECP2 gene duplication in male patients.
|
| Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP.
|
| Pediatr Neurol 41(3):187-91.PMID: 19664534 2009
|
| 60 | MECP2
|
| Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2.
|
| Guarda A, Bolognese F, Bonapace IM, Badaracco G.
|
| Exp Cell Res. 315(11):1895-903. 2009
|
| 61 | LBR, MECP2
|
| Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2.
|
| Guarda A, Bolognese F, Bonapace IM, Badaracco G.
|
| Exp Cell Res 315(11):1895-903. doi: 10.1016/j.yexcr.2009.01.019. Epub 2009 Feb 2.
2009
|
| 62 | MECP2, RTTM
|
| Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
|
| Schüle B, Armstrong DD, Vogel H, Oviedo A, Francke U.
|
| Clin Genet 74(2):116-26. Epub 2008 May 8.
2008
|
| 63 | MECP2
|
| MeCP2, a key contributor to neurological disease, activates and represses transcription.
|
| Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY.
|
| Science 320(5880):1224-9. 2008
|
| 64 | MECP2
|
| A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
|
| Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL.
|
| Hum Mol Genet 17(12):1718-27. Epub 2008 Mar 4. 2008
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| 65 | MECP2
|
| MeCP2 preferentially binds to methylated linker DNA in the absence of the terminal tail of histone H3 and independently of histone acetylation.
|
| Ishibashi T, Thambirajah AA, Ausió J.
|
| FEBS Lett 582(7):1157-62. Epub 2008 Mar 11.
2008
|
| 66 | MECP2, SIM1
|
| Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.
|
| Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY.
|
| Neuron 59(6):947-58.
2008
|
| 67 | MBD1, MECP2
|
| Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes.
|
| Yaqinuddin A, Abbas F, Naqvi SZ, Bashir MU, Qazi R, Qureshi SA.
|
| Biosci Rep 28(6):319-26.
2008
|
| 68 | ATRX, MECP2
|
| 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 [Epub ahead of print] 2007
|
| 69 | FXDY1, RTT, MECP2
|
| FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.
|
| Deng V, Matagne V, Banine F, Frerking M, Ohliger P, Budden S, Pevsner J, Dissen GA, Sherman LS, Ojeda SR.
|
| Hum Mol Genet 16(6):640-50. Epub 2007 Feb 19. 2007
|
| 70 | DLX5,DLX6,MECP2
|
| DLX5 and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency.
|
| Schule B, Li HH, Fisch-Kohl C, Purmann C, Francke U.
|
| Am J Hum Genet 81(3):492-506. Epub 2007 Aug 2. 2007
|
| 71 | MECP2, RTT
|
| MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome.
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| Nikitina T, Ghosh RP, Horowitz-Scherer RA, Hansen JC, Grigoryev SA, Woodcock CL.
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| J Biol Chem 282(38):28237-45. Epub 2007 Jul 27. 2007
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| 72 | MECP2, RTT, RTTM
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| Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
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| Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J.
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| Eur J Hum Genet 15(12):1218-29. Epub 2007 Aug 22. 2007
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| 73 | MECP2, RTT
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| MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
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| Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F.
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| Am J Med Genet A 143(23):2775-84. 2007
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| 74 | MECP2
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| MeCP2 interacts with HP1 and modulates its heterochromatin association during myogenic differentiation.
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| Agarwal N, Hardt T, Brero A, Nowak D, Rothbauer U, Becker A, Leonhardt H, Cardoso MC.
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| Nucleic Acids Res 35(16):5402-8. Epub 2007 Aug 13. 2007
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| 75 | DUPXQ28, MECP2
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| Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
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| Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.
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| Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2007 Dec 28. [Epub ahead of print] 2007
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| 76 | AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5.
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| 77 | MAGEA1, MAGEA12, MAGEA2, MAGEA3, MBD1, MBD2, MECP2
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| Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters.
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| Wischnewski F, Friese O, Pantel K, Schwarzenbach H.
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| Mol Cancer Res 5(7):749-59. 2007
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| 78 | DLX5, MECP2
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| Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome.
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| Itaba-Matsumoto N, Maegawa S, Yamagata H, Kondo I, Oshimura M, Nanba E.
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| Brain Dev 29(8):491-5. Epub 2007 Mar 23.
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| 79 | MECP2, RTT
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| Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
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| Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.
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| Eur J Med Genet 49(1):9-18. 2006
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| 80 | ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
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| J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
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| 81 | RTT, MECP2
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| Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
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| Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Matyas G.
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| Clin Genet 69(4):319-26. 2006
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| 82 | RTT, RTTM, MECP2
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| Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
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| Bienvenu T, Chelly J.
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| Nat Rev Genet 7(6):415-426. 2006
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| 83 | MECP2, RTT
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| Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
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| Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ.
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| J Med Genet 43(5):451-6. Epub 2005 Sep 23. 2006
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| 84 | MECP2
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| Identification of cis-regulatory elements for MECP2 expression.
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| Liu J, Francke U.
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| Hum Mol Genet 15(11):1769-82. Epub 2006 Apr 13. 2006
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| 85 | MECP2, RTT
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| Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.
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| 86 | RTT, MECP2
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| J Med Genet 43(10):814-6. Epub 2006 May 11. 2006
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| 87 | MECP2, RTT
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| Evans JC, Archer HL, Whatley SD, Clarke A.
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| Clin Genet 70(4):336-8. 2006
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| 88 | RTT, MECP2
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| Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.
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| Eur J Hum Genet 14(11):1189-94. Epub 2006 Jul 5. 2006
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| 89 | DUPXQ28, MECP2, RTTM
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| Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
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| Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.
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| Pediatrics 118(6):e1687-95. Epub 2006 Nov 6. 2006
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| 90 | MECP2, ID1, ID2, ID3, ID4
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| Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome.
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| Peddada S, Yasui DH, LaSalle JM.
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| Hum Mol Genet 15(12):2003-14. Epub 2006 May 8. 2006
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| 91 | MECP2
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| The methyl-CpG-binding protein MECP2 is required for prostate cancer cell growth.
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| Bernard D, Gil J, Dumont P, Rizzo S, MontŽ D, Quatannens B, Hudson D, Visakorpi T, Fuks F, de Launoit Y.
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| Oncogene 25(9):1358-66. 2006
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| 92 | MECP2, RTT, RTTM
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| MeCP2 dysfunction in Rett syndrome and related disorders.
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| Moretti P, Zoghbi HY.
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| Curr Opin Genet Dev 16(3):276-81. Epub 2006 May 2. Review. 2006
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| 93 | MECP2, DUPXQ28
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| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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| del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.
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| Genet Med 8(12):784-92. 2006
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| 94 | MECP2, RTT, RTTM
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| Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
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| Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG.
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| J Med Genet 43(4):362-70. Epub 2005 Sep 16. 2006
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| 95 | MECP2, RTT, RTTM
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| MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
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| Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C.
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| Brain Dev 28(5):305-10. Epub 2006 Jan 10. 2006
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| 96 | MECP2
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| Mechanisms of disease: neurogenetics of MeCP2 deficiency.
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| Francke U.
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| Nat Clin Pract Neurol 2(4):212-21. Review. 2006
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| 97 | MECP2, RTT
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| Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
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| Evans JC, Archer HL, Whatley SD, Kerr A, Clarke A, Butler R.
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| Eur J Hum Genet 13(1):124-6. 2005
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| 98 | MECP2, RTT
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| The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.
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| Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R, Fraga MF, Herranz M, Avila S, Pineda M, Monros E, Esteller M.
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| Hum Genet 116(1-2):91-104. Epub 2004 Nov 11. 2005
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| 99 | UBE3A, MECP2, GABRB3, RTT, AUTS4
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| Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
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| Samaco RC, Hogart A, LaSalle JM.
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| Hum Mol Genet 14(4):483-92. Epub 2004 Dec 22. 2005
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| 100 | MECP2, RTT, DLX5
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| Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.
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| Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T.
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| Nat Genet 37(1):31-40. Epub 2004 Dec 19. 2005
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| 101 | MECP2, SMARCA2
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| Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.
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| Harikrishnan KN, Chow MZ, Baker EK, Pal S, Bassal S, Brasacchio D, Wang L, Craig JM, Jones PL, Sif S, El-Osta A.
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| Nat Genet 37(3):254-64. Epub 2005 Feb 6. 2005
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| 102 | MECP2
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| Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.
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| Thatcher KN, Peddada S, Yasui DH, Lasalle JM.
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| Hum Mol Genet 14(6):785-97. Epub 2005 Feb 2. 2005
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| 103 | UBE3A, MECP2, RTT
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| MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
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| Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R.
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| Hum Mol Genet 14(8):1049-58. Epub 2005 Mar 9. 2005
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| 104 | MECP2, MRXS31, RTTM
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| Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
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| Poirier K, Francis F, Hamel B, Moraine C, Fryns JP, Ropers HH, Chelly J, Bienvenu T.
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| Eur J Hum Genet 13(5):523-4. No abstract available. 2005
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| 105 | MECP2, DUPXQ28, MRXS31, ESMR,RTTM
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| Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males.
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| Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.
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| Am J Hum Genet 77(3):442-53. Epub 2005 Jul 29. 2005
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| 106 | RTT, MECP2
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| Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
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| Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME.
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| Eur J Hum Genet 13(10):1121-30. 2005
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| 107 | RTT, MECP2
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| p.R270X MECP2 mutation and mortality in Rett syndrome.
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| Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H.
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| Eur J Hum Genet 13(11):1235-8. 2005
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| 108 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| CDKL5 and MeCP2: partners in Rett pathogenesis.
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| Warby S.
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| Clin Genet 68(6):497-500. No abstract available. 2005
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| 109 | MECP2, MRXS31, RTTM
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| Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
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| Oexle K, Thamm-Mucke B, Mayer T, Tinschert S.
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| Eur J Pediatr 164(3):154-7. Epub 2004 Nov 19. 2005
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| 110 | MECP2, RTTM, DUPXQ28
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| Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
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| Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT.
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| J Med Genet 42(2):e12. 2005
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| 111 | MECP2
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| DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.
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| Klose RJ, Sarraf SA, Schmiedeberg L, McDermott SM, Stancheva I, Bird AP.
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| Mol Cell 19(5):667-78. 2005
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| 112 | MECP2, YBX1
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| Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
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| Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY.
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| Proc Natl Acad Sci U S A 102(49):17551-8. Epub 2005 Oct 26. Erratum in: Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1656. 2005
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| 113 | MECP2, MRXS31, RTTM
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| Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders.
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| Samaco RC, Nagarajan RP, Braunschweig D, LaSalle JM.
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| Hum Mol Genet 13(6):629-39. Epub 2004 Jan 20. 2004
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| 114 | AS,MECP2,UBE3A
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| Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
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| Hitchins MP, Rickard S, Dhalla F, de Vries BB, Winter R, Pembrey ME, Malcolm S.
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| Am J Med Genet 125A(2):167-72. 2004
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| 115 | MECP2
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| A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
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| Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA.
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| Nat Genet 36(4):339-41. Epub 2004 Mar 21. 2004
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| 116 | MECP2
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| MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
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| Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS.
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| Am J Med Genet 128B(1):50-3. 2004
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| 117 | CDKL5, EIEE2, ISSX, MECP2, RTT
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| Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
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| Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gecz J.
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| Am J Hum Genet 75(6):1079-93. Epub 2004 Oct 18. 2004
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| 118 | DUPXQ28, MECP2, RTTM
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| Disomy of distal Xq in males: case report and overview.
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| 119 | DUPXQ28, MECP2, RTTM
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| Functional disomy resulting from duplications of distal Xq in four unrelated patients.
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| Lachlan KL, Collinson MN, Sandford RO, van Zyl B, Jacobs PA, Thomas NS.
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| Hum Genet 115(5):399-408. Epub 2004 Aug 24. 2004
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| 120 | MECP2
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| The major form of MeCP2 has a novel N-terminus generated by alternative splicing.
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| Kriaucionis S, Bird A.
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| Nucleic Acids Res 32(5):1818-23. Print 2004. 2004
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| 121 | MECP2, RTT, RTTM, DUPXQ28
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| Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.
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| Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A.
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| Hum Mutat 24(2):172-7. 2004
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| 122 | MECP2
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| A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction.
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| Carro S, Bergo A, Mengoni M, Bachi A, Badaracco G, Kilstrup-Nielsen C, Landsberger N.
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| J Biol Chem. 279(24):25623-31. 2004
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| 123 | MECP2, RTT
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| Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
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| Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J.
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| Am J Med Genet 118A(2):103-14. 2003
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| 124 | ATRX, CREBBP, DNMT3B, MECP2, RPS6KA3
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| Ausio J, Levin DB, De Amorim GV, Bakker S, Macleod PM.
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| Clin Genet 64(2):83-95. 2003
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| 125 | ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
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| Bickmore WA, Van Der Maarel SM.
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| Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
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| 126 | MECP2, RTT
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| DNA methylation and Rett syndrome.
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| Hum Mol Genet 12 Suppl 2:R221-7. Epub 2003 Aug 19. 2003
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| 127 | ATRX, DNMT1, DNMT3B, HDAC1, HDAC2, KAT2B, KAT8, MBD1, MBD2, MECP2, SIN3A
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| Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns.
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| Craig JM, Earle E, Canham P, Wong LH, Anderson M, Choo KH.
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| Hum Mol Genet 12(23):3109-21. Epub 2003 Sep 30. 2003
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| 128 | MECP2, MRXS31, RTTM
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| MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
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| Gomot M, Gendrot C, Verloes A, Raynaud M, David A, Yntema HG, Dessay S, Kalscheuer V, Frints S, Couvert P, Briault S, Blesson S, Toutain A, Chelly J, Desportes V, Moraine C.
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| Am J Med Genet 123A(2):129-39. 2003
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| 129 | MECP2
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| Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation.
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| Georgel PT, Horowitz-Scherer RA, Adkins N, Woodcock CL, Wade PA, Hansen JC.
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| J Biol Chem 278(34):32181-8. Epub 2003 Jun 4. 2003
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| 130 | MECP2
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| MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form.
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| Jarrar MH, Danko CG, Reddy S, Lee YJ, Bibat G, Kaufmann WE.
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| J Child Neurol 18(10):675-82. 2003
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| 131 | MECP2, RTTM
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| MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
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| Bourdon V, Philippe C, Martin D, Verlos A, Grandemenge A, Jonveaux P.
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| Mol Diagn 7(1):3-7. 2003
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| 132 | MECP2, RTTM
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| Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
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| Moog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood-Lenssen AM, Schrander-Stumpel CT.
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| Eur J Paediatr Neurol 7(1):5-12. Review. 2003
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| 133 | MECP2
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| Direct association between PU.1 and MeCP2 that recruits mSin3A-HDAC complex for PU.1-mediated transcriptional repression.
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| Suzuki M, Yamada T, Kihara-Negishi F, Sakurai T, Oikawa T.
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| Oncogene. 22(54):8688-98. 2003
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| 134 | MECP2
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| The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation.
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| Fuks F, Hurd PJ, Wolf D, Nan X, Bird AP, Kouzarides T.
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| J Biol Chem. 278(6):4035-40. 2003
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| 135 | MECP2
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| Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.
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| Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY.
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| Hum Mol Genet 11(2):115-24. 2002
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| 136 | MECP2
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| Eur J Hum Genet 10(1):77-81. 2002
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| 137 | MECP2
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| Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
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| Moncla A, Kpebe A, Missirian C, Mancini J, Villard L.
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| Eur J Hum Genet 10(1):86-9. 2002
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| 138 | MECP2, MRXS31, PPMX, RTTM
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| A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
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| Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A.
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| 139 | MECP2
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| MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.
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| Balmer D, Arredondo J, Samaco RC, LaSalle JM.
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| Hum Genet 110(6):545-52. 2002
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| 140 | MECP2, MRXS31, RTTM
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| Low frequency of MECP2 mutations in mentally retarded males.
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| Yntema HG, Kleefstra T, Oudakker AR, Romein T, De Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, Van Bokhoven H.
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| Eur J Hum Genet 10(8):487-90. 2002
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| 141 | MECP2
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| MECP2 gene mutation analysis in Chinese patients with Rett syndrome.
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| Pan H, Wang YP, Bao XH, Meng HD, Zhang Y, Wu XR, Shen Y.
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| Eur J Hum Genet 10(8):484-6. 2002
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| 142 | MECP2, MRXS31, RTTM
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| Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
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| Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R.
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| Hum Mutat 20(4):249-52. 2002
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| 143 | MECP2
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| Rett syndrome and MeCP2: linking epigenetics and neuronal function.
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| Shahbazian MD, Zoghbi HY.
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| Am J Hum Genet 71(6):1259-72. Review. No abstract available. 2002
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| 144 | MECP2, RTT, RTTM
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| 146 | HMGB1, MECP2
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| 147 | MECP2, RTT
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| A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
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| Hum Genet 108(1):43-50. 2001
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| 148 | MECP2, RTT
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| MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
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| 149 | MECP2
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| Hum Mol Genet 10(10):1085-92. 2001
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| 150 | MECP2, MRX28, MRXS31, RTTM
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| MECP2 is highly mutated in X-linked mental retardation.
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| Hum Mol Genet 10(9):941-6. 2001
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| 151 | MECP2, RTT
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| Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.
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| Clin Genet 59(6):406-17. 2001
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| 152 | MECP2
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| MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
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| Am J Hum Genet 68(5):1093-101. 2001
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| 153 | MECP2, RTT
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| Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.
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| 154 | MECP2, RTT
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| Preserved speech variants of the Rett syndrome : Molecular and clinical analyis.
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| Am J Med Genet 104 : 14-22. 2001
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| 155 | ATRX, CREBBP, DNMT3B, MECP2
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| Hum Mol Genet 10(20):2233-42. 2001
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| 156 | MECP2, RTT
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| The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome.
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| Nan X, Bird A.
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| Brain Dev 23 Suppl 1:S32-7. Review. 2001
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| 157 | MECP2, SKI
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| The Ski protein family is required for MeCP2-mediated transcriptional repression.
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| 158 | MECP2
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| MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery.
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| Kaludov NK, Wolffe AP.
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| Nucleic Acids Res 28(9):1921-8. 2000
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| 159 | MECP2, RTT
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| Mutation screening in Rett syndrome patients.
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| Xiang F, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M.
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| J Med Genet 37(4):250-5. 2000
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| 160 | MECP2, RTT
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| Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
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| Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.
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| Hum Mol Genet 9(7):1119-29. 2000
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| 161 | MECP2, RTT
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| MECP2 mutations account for most cases of typical forms of Rett syndrome.
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| Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.
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| Hum Mol Genet 9(9):1377-84. 2000
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| 162 | MECP2, RTT
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| Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
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| Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F.
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| Hum Mol Genet 9(9):1369-75. 2000
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| 163 | MECP2, RTT
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| Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
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| Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.
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| J Med Genet 37(8):608-10. No abstract available. 2000
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| 164 | MECP2, RTT
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| Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
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| Hampson K, Woods CG, Latif F, Webb T.
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| J Med Genet 37(8):610-2. No abstract available. 2000
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| 165 | MECP2, RTT
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| Functional consequences of rett syndrome mutations on human MeCP2.
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| Yusufzai TM, Wolffe AP.
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| Nucleic Acids Res 28(21):4172-9. 2000
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| 166 | MECP2, MRXS31, RTTM
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| A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
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| Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A.
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| Am J Hum Genet 67(4):982-5. 2000
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| 167 | MECP2, RTT
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| Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
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| Amano K, Nomura Y, Segawa M, Yamakawa K.
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| J Hum Genet 45(4):231-6. 2000
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| 168 | MECP2, RTT
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| Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.
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| Ballestar E, Yusufzai TM, Wolffe AP.
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| Biochemistry 39(24):7100-6. 2000
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| 169 | MECP2, RTT
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| Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
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| Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY.
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| Ann Neurol 47(5):670-9. 2000
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| 170 | MECP2
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| Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
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| Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB.
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| Am J Hum Genet 67(6):1428-36. 2000
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| 171 | IRAK1, MECP2, RTT
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| Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions.
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| Reichwald K, Thiesen J, Wiehe T, Weitzel J, Poustka WA, Rosenthal A, Platzer M, Stratling WH, Kioschis P.
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| Mamm Genome 11(3):182-90. 2000
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| 172 | MECP2
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| A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression.
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| Hum Mol Genet 8(7):1253-1262. 1999
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| 173 | MECP2, RTT
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| Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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| 174 | MECP2, RET
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| Molecular approaches to the Rett syndrome gene.
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| J Child Neurol 14(12):806-14. Review. 1999
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| 175 | MECP2
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| MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.
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| Cell 88 : 471-481. 1997
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| 176 | MRXS31, MECP2
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| X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
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| Clin Genet 52(3):155-61. 1997
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| 177 | MECP2
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| Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.
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| D'Esposito M, et al.
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| Mamm Genome 7 : 533-535. 1996
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| 178 | ESMR, MECP2, RTTM
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| Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.
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| 179 | MECP2
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| Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome.
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| 180 | MECP2
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| Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA.
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