Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Methyl-CpG-Bindungsprotein 2

Das MECP2-Gen kodiert ein Protein, welches in die epigentische Regulation insbesondere über die Methylierung der CpG-Inseln eingebunden ist. Mutationen führen zu x-chromosomal dominantem Rett-Syndrom oder zu rezessiver mentaler Retardierung. Weiterhin wird ein Zusammenhang mit Autismus und dem Hypomethylierungs-Syndrom diskutiert.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Neonatale Enzephalopathie mit Mikrozephalie
MECP2
X-chromosomale syndromale mentale Retardierung Lubs-Typ
MECP2
X-chromosomale syndromale mentale Retardierung 13
MECP2
X-chromosomale syndromale mentale Retardierung Lubs-Typ
MECP2
Rett-Syndrom
Atypisches Rett-Syndrom
MECP2
MECP2
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit
MECP2
Atypisches Rett-Syndrom
MECP2
Rett-Syndrom Variante mit erhaltener Sprechfähigkeit
MECP2
X-chromosomale Veranlagung für Autismus
MECP2
Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
NLRP7
Rekurrente Blasenmole 2
KHDC3L
ZFP57

Referenzen:

1.

Kimura H et. al. (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1.

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2.

Lewis JD et. al. (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA.

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3.

None (1966) [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

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4.

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5.

Nan X et. al. (1993) Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

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6.

Nan X et. al. (1996) DNA methylation specifies chromosomal localization of MeCP2.

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7.

Tate P et. al. (1996) The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

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8.

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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9.

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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10.

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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11.

Nan X et. al. (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.

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12.

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13.

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14.

Jones PL et. al. (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription.

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15.

Nan X et. al. (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.

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16.

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18.

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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19.

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20.

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21.

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23.

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24.

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25.

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26.

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27.

Amano K et. al. (2000) Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

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28.

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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29.

Dragich J et. al. (2000) Rett syndrome: a surprising result of mutation in MECP2.

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30.

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31.

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32.

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33.

Yusufzai TM et. al. (2000) Functional consequences of Rett syndrome mutations on human MeCP2.

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34.

Villard L et. al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.

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35.

Lam CW et. al. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

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36.

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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37.

Imessaoudene B et. al. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

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38.

Guy J et. al. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.

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39.

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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40.

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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41.

Couvert P et. al. (2001) MECP2 is highly mutated in X-linked mental retardation.

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42.

Trappe R et. al. (2001) MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

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43.

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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44.

Wan M et. al. (2001) MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.

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45.

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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46.

Hoffbuhr K et. al. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome.

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47.

Nicolao P et. al. (2001) DHPLC analysis of the MECP2 gene in Italian Rett patients.

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48.

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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49.

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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50.

Cohen D et. al. (2002) MECP2 mutation in a boy with language disorder and schizophrenia.

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51.

Dotti MT et. al. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men.

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52.

Yntema HG et. al. (2002) In-frame deletion in MECP2 causes mild nonspecific mental retardation.

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53.

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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54.

Kudo S et. al. (2002) Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation.

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55.

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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56.

Topçu M et. al. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.

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57.

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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58.

Geerdink N et. al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

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59.

Kleefstra T et. al. (2002) De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

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60.

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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61.

Pan H et. al. (2002) MECP2 gene mutation analysis in Chinese patients with Rett syndrome.

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62.

Yntema HG et. al. (2002) Low frequency of MECP2 mutations in mentally retarded males.

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63.

Shahbazian M et. al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

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64.

Laccone F et. al. (2002) MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

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65.

Heilstedt HA et. al. (2002) Infantile hypotonia as a presentation of Rett syndrome.

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66.

Shahbazian MD et. al. (2002) Balanced X chromosome inactivation patterns in the Rett syndrome brain.

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67.

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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68.

Beyer KS et. al. (2002) Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

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69.

Shahbazian MD et. al. (2002) Rett syndrome and MeCP2: linking epigenetics and neuronal function.

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70.

Mount RH et. al. (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome.

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71.

Maiwald R et. al. (2002) De novo MECP2 mutation in a 46,XX male patient with Rett syndrome.

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72.

Moog U et. al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

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73.

Weaving LS et. al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

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74.

Christodoulou J et. al. (2003) RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.

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75.

Carney RM et. al. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder.

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76.

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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77.

Miltenberger-Miltenyi G et. al. (2003) Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

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78.

Kriaucionis S et. al. (2003) DNA methylation and Rett syndrome.

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79.

Hammer S et. al. (2003) Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

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80.

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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81.

Chen WG et. al. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2.

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82.

Martinowich K et. al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation.

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83.

Gomot M et. al. (2003) MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

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84.

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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85.

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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86.

Schanen C et. al. (2004) Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

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87.

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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88.

Matarazzo V et. al. (2004) Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency.

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89.

Collins AL et. al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

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90.

Moretti P et. al. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

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91.

Leuzzi V et. al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

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92.

Ylisaukko-Oja T et. al. (2005) MECP2 mutation analysis in patients with mental retardation.

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93.

Horike S et. al. (2005) Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.

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94.

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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95.

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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96.

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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97.

Harikrishnan KN et. al. (2005) Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.

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98.

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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99.

Caballero IM et. al. (2005) MeCP2 in neurons: closing in on the causes of Rett syndrome.

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100.

Ravn K et. al. (2005) Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

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101.

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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102.

Nuber UA et. al. (2005) Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

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103.

Jian L et. al. (2005) p.R270X MECP2 mutation and mortality in Rett syndrome.

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104.

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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105.

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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106.

Saxena A et. al. (2006) Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

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107.

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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108.

Robertson L et. al. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

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109.

Chang Q et. al. (2006) The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

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110.

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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111.

Ventura P et. al. (2006) A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

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112.

Zhou Z et. al. (2006) Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

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113.

Wang H et. al. (2006) Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice.

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114.

Li MR et. al. (2007) MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

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115.

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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116.

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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117.

Guy J et. al. (2007) Reversal of neurological defects in a mouse model of Rett syndrome.

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118.

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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119.

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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120.

None (2007) MECP2 mutations in males.

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121.

Schüle B et. al. (2007) DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

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122.

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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123.

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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124.

Kerr B et. al. (2008) Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.

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125.

Bebbington A et. al. (2008) Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

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126.

Chahrour M et. al. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription.

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127.

Renieri A et. al. (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

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128.

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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129.

Adegbola AA et. al. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype.

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130.

Swanberg SE et. al. (2009) Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

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131.

Fichou Y et. al. (2009) The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

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132.

Abuhatzira L et. al. (2009) MeCP2 involvement in the regulation of neuronal alpha-tubulin production.

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133.

Tropea D et. al. (2009) Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice.

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134.

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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135.

Saunders CJ et. al. (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

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136.

Ben-Shachar S et. al. (2009) Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

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137.

Freilinger M et. al. (2009) MECP2 mutation in one of Rett's original patients.

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138.

Belligni EF et. al. (2010) MECP2 duplication in a patient with congenital central hypoventilation.

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139.

Forlani G et. al. (2010) The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

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140.

Chao HT et. al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

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141.

Muotri AR et. al. (2010) L1 retrotransposition in neurons is modulated by MeCP2.

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142.

McGraw CM et. al. (2011) Adult neural function requires MeCP2.

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143.

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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144.

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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145.

Derecki NC et. al. (2012) Wild-type microglia arrest pathology in a mouse model of Rett syndrome.

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146.

Yu TW et. al. (2013) Using whole-exome sequencing to identify inherited causes of autism.

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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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