Methyl-CpG-binding protein 2
The MECP2 gene encodes a protein that is involved in epigenetic regulation. In particular it plays a role in methylation of CpG islets. Mutations lead to several -linked disorders such as dominant Rett syndrome and recessive mental retardation. Also participation in autism and hypomethylation syndrome is discussed.
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References:
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Kimura H et al. (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1.
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2. |
Lam CW et al. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.
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3. |
Vourc'h P et al. (2001) No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
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4. |
Carney RM et al. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder.
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5. |
Yu TW et al. (2013) Using whole-exome sequencing to identify inherited causes of autism.
|
6. |
Guerrini R et al. (1998) Cortical reflex myoclonus in Rett syndrome.
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7. |
Wan M et al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
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8. |
Villard L et al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.
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9. |
Hoffbuhr K et al. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome.
|
10. |
Geerdink N et al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
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11. |
Moog U et al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
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12. |
Leuzzi V et al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
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13. |
None (2007) MECP2 mutations in males.
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14. |
Claes S et al. (1997) X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
|
15. |
Gendrot C et al. (1999) X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.
|
16. |
Meloni I et al. (2000) A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
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17. |
Orrico A et al. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation.
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18. |
Couvert P et al. (2001) MECP2 is highly mutated in X-linked mental retardation.
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19. |
Dotti MT et al. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men.
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20. |
Yntema HG et al. (2002) In-frame deletion in MECP2 causes mild nonspecific mental retardation.
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21. |
Klauck SM et al. (2002) A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
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22. |
Winnepenninckx B et al. (2002) 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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23. |
Gomot M et al. (2003) MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
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24. |
Collins AL et al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
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25. |
Meins M et al. (2005) 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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26. |
Van Esch H et al. (2005) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
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27. |
del Gaudio D et al. (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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28. |
Carvalho CM et al. (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
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29. |
Belligni EF et al. (2010) MECP2 duplication in a patient with congenital central hypoventilation.
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30. |
None (1966) [On a unusual brain atrophy syndrome in hyperammonemia in childhood].
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31. |
Amir RE et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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32. |
De Bona C et al. (2000) Preserved speech variant is allelic of classic Rett syndrome.
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33. |
Clayton-Smith J et al. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.
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34. |
Imessaoudene B et al. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
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35. |
Watson P et al. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
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36. |
Topçu M et al. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
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37. |
Shahbazian M et al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.
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38. |
Heilstedt HA et al. (2002) Infantile hypotonia as a presentation of Rett syndrome.
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39. |
Mount RH et al. (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.
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40. |
Maiwald R et al. (2002) De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.
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41. |
Weaving LS et al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
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42. |
Hammer S et al. (2003) Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
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43. |
Mnatzakanian GN et al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.
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44. |
Schanen C et al. (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
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45. |
Moretti P et al. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.
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46. |
Ravn K et al. (2005) Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.
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47. |
Nuber UA et al. (2005) Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.
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48. |
Jian L et al. (2005) p.R270X MECP2 mutation and mortality in Rett syndrome.
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49. |
Archer HL et al. (2006) Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
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50. |
Robertson L et al. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.
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51. |
Bartholdi D et al. (2006) 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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52. |
Deng V et al. (2007) FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.
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53. |
Renieri A et al. (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).
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54. |
Adegbola AA et al. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.
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55. |
Saunders CJ et al. (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.
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56. |
Chao HT et al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
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57. |
Muotri AR et al. (2010) L1 retrotransposition in neurons is modulated by MeCP2.
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58. |
Derecki NC et al. (2012) Wild-type microglia arrest pathology in a mouse model of Rett syndrome.
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59. |
Lewis JD et al. (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA.
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60. |
Quaderi NA et al. (1994) Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome.
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61. |
Nan X et al. (1993) Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.
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62. |
Nan X et al. (1996) DNA methylation specifies chromosomal localization of MeCP2.
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63. |
Tate P et al. (1996) The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.
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64. |
Adler DA et al. (1995) The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse.
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65. |
D'Esposito M et al. (1996) Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.
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66. |
Vilain A et al. (1996) Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.
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67. |
Nan X et al. (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.
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68. |
Jones PL et al. (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription.
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69. |
Nan X et al. (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.
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70. |
Willard HF et al. (1999) Breaking the silence in Rett syndrome.
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71. |
Reichwald K et al. (2000) Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions.
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72. |
Xiang F et al. (2000) Mutation screening in Rett syndrome patients.
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73. |
Cheadle JP et al. (2000) 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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74. |
Huppke P et al. (2000) Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
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75. |
Bienvenu T et al. (2000) MECP2 mutations account for most cases of typical forms of Rett syndrome.
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76. |
Ballestar E et al. (2000) 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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77. |
Amano K et al. (2000) Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
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78. |
Dragich J et al. (2000) Rett syndrome: a surprising result of mutation in MECP2.
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79. |
Buyse IM et al. (2000) 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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80. |
Yusufzai TM et al. (2000) Functional consequences of Rett syndrome mutations on human MeCP2.
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81. |
Bourdon V et al. (2001) A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
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82. |
Guy J et al. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.
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83. |
Chen RZ et al. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.
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84. |
Trappe R et al. (2001) MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
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85. |
Nielsen JB et al. (2001) MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
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86. |
Wan M et al. (2001) MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
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87. |
Ohki I et al. (2001) Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA.
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88. |
Nicolao P et al. (2001) DHPLC analysis of the MECP2 gene in Italian Rett patients.
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89. |
LaSalle JM et al. (2001) 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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90. |
Cohen D et al. (2002) MECP2 mutation in a boy with language disorder and schizophrenia.
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91. |
Shahbazian MD et al. (2002) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.
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92. |
Kudo S et al. (2002) Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation.
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93. |
Moncla A et al. (2002) Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
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94. |
Kleefstra T et al. (2002) De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.
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95. |
Balmer D et al. (2002) MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.
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96. |
Pan H et al. (2002) MECP2 gene mutation analysis in Chinese patients with Rett syndrome.
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97. |
Yntema HG et al. (2002) Low frequency of MECP2 mutations in mentally retarded males.
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98. |
Laccone F et al. (2002) MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
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99. |
Shahbazian MD et al. (2002) Balanced X chromosome inactivation patterns in the Rett syndrome brain.
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100. |
Beyer KS et al. (2002) Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.
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101. |
Shahbazian MD et al. (2002) Rett syndrome and MeCP2: linking epigenetics and neuronal function.
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102. |
Christodoulou J et al. (2003) RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.
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103. |
Georgel PT et al. (2003) Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation.
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104. |
Miltenberger-Miltenyi G et al. (2003) Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
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105. |
Kriaucionis S et al. (2003) DNA methylation and Rett syndrome.
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106. |
Stancheva I et al. (2003) A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.
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107. |
Chen WG et al. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2.
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108. |
Martinowich K et al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation.
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109. |
Young JI et al. (2004) X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.
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110. |
Braunschweig D et al. (2004) X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.
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111. |
Matarazzo V et al. (2004) Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency.
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112. |
Ylisaukko-Oja T et al. (2005) MECP2 mutation analysis in patients with mental retardation.
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113. |
Horike S et al. (2005) Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.
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114. |
Samaco RC et al. (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
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115. |
Thatcher KN et al. (2005) Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.
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116. |
Harikrishnan KN et al. (2005) Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.
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117. |
Makedonski K et al. (2005) MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
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118. |
Caballero IM et al. (2005) MeCP2 in neurons: closing in on the causes of Rett syndrome.
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119. |
Watson CM et al. (2005) Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.
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120. |
Klose RJ et al. (2005) DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.
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121. |
Saxena A et al. (2006) Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.
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122. |
Chang Q et al. (2006) The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.
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123. |
Ventura P et al. (2006) A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
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124. |
Zhou Z et al. (2006) Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.
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125. |
Wang H et al. (2006) Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice.
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126. |
Li MR et al. (2007) MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
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127. |
McGill BE et al. (2006) Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome.
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128. |
Guy J et al. (2007) Reversal of neurological defects in a mouse model of Rett syndrome.
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129. |
Nan X et al. (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
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130. |
Schüle B et al. (2007) DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.
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131. |
Hardwick SA et al. (2007) Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
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132. |
Samaco RC et al. (2008) A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
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133. |
Kerr B et al. (2008) Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.
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134. |
Bebbington A et al. (2008) Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
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135. |
Chahrour M et al. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription.
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136. |
Fyffe SL et al. (2008) Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.
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137. |
Swanberg SE et al. (2009) Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
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138. |
Fichou Y et al. (2009) The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.
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139. |
Abuhatzira L et al. (2009) MeCP2 involvement in the regulation of neuronal alpha-tubulin production.
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140. |
Tropea D et al. (2009) Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice.
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141. |
Ben-Shachar S et al. (2009) Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.
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142. |
Freilinger M et al. (2009) MECP2 mutation in one of Rett's original patients.
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143. |
Forlani G et al. (2010) The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
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144. |
McGraw CM et al. (2011) Adult neural function requires MeCP2.
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145. |
Carvalho CM et al. (2011) Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
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146. |
Itoh M et al. (2012) Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.
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147. |
Ebert DH et al. (2013) Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.
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148. |
Buchovecky CM et al. (2013) A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.
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149. |
Gabel HW et al. (2015) Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.
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150. |
Orphanet article
Orphanet ID 123186
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151. |
NCBI article
NCBI 4204
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152. |
OMIM.ORG article
Omim 300005
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153. |
Wikipedia article
Wikipedia EN (MECP2)
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Update: Aug. 14, 2020