-
1
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2 encoding methyl-CpG-binding protein 2
-
Amir, R.E., et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet, 1999. 23(2): 185-8.
-
(1999)
Nat Genet
, vol.23
, Issue.2
, pp. 185-188
-
-
Amir, R.E.1
-
2
-
-
8844269073
-
Mutations of CDKL5 cause a severe neurodevelopmental disorderwith infantile spasms andmental retardation
-
Weaving, L.S., et al., Mutations of CDKL5 cause a severe neurodevelopmental disorderwith infantile spasms andmental retardation. Am J Hum Genet, 2004. 75(6): 1079-93.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.6
, pp. 1079-1093
-
-
Weaving, L.S.1
-
3
-
-
46149122036
-
FOXG1 is responsible for the congenital variant of Rett syndrome
-
Ariani, F., et al., FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet, 2008. 83(1): 89-93.
-
(2008)
Am J Hum Genet
, vol.83
, Issue.1
, pp. 89-93
-
-
Ariani, F.1
-
4
-
-
78650903501
-
Rett syndrome: Revised diagnostic criteria and nomenclature
-
Neul, J.L., et al., Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol, 2010. 68(6): 944-50.
-
(2010)
Ann Neurol
, vol.68
, Issue.6
, pp. 944-950
-
-
Neul, J.L.1
-
5
-
-
0029347068
-
The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse
-
Adler, D.A., et al., The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse. Mamm Genome, 1995. 6(8): p. 491-2.
-
(1995)
Mamm Genome
, vol.6
, Issue.8
, pp. 491-492
-
-
Adler, D.A.1
-
6
-
-
33746076412
-
A novel role for Xist RNA in the formation of a repressive nuclear compartment into which genes are recruited when silenced
-
Chaumeil, J., et al., A novel role for Xist RNA in the formation of a repressive nuclear compartment into which genes are recruited when silenced. Genes Dev, 2006. 20(16): 2223-37.
-
(2006)
Genes Dev
, vol.20
, Issue.16
, pp. 2223-2237
-
-
Chaumeil, J.1
-
7
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel, L. and H.F. Willard, X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature, 2005. 434(7031): 400-4.
-
(2005)
Nature
, vol.434
, Issue.7031
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
8
-
-
0032014618
-
Escape fromXinactivation of Smcx is preceded by silencing during mouse development
-
Lingenfelter, P.A., et al., Escape fromXinactivation of Smcx is preceded by silencing during mouse development. Nat Genet, 1998. 18(3): 212-3.
-
(1998)
Nat Genet
, vol.18
, Issue.3
, pp. 212-213
-
-
Lingenfelter, P.A.1
-
9
-
-
49749114829
-
Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain
-
Xu, J., X. Deng and C.M. Disteche, Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain. PLoS One, 2008. 3(7): e2553.
-
(2008)
PLoS One
, vol.3
, Issue.7
-
-
Xu, J.1
Deng, X.2
Disteche, C.M.3
-
10
-
-
77951794067
-
Global survey of escape from X inactivation by RNA-sequencing in mouse
-
Yang, F., et al., Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res, 2010. 20(5): 614-22.
-
(2010)
Genome Res
, vol.20
, Issue.5
, pp. 614-622
-
-
Yang, F.1
-
11
-
-
0036273943
-
Associations between MeCP2 mutations. X-chromosome inactivation, and phenotype
-
Hoffbuhr, K.C., et al., Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev, 2002. 8(2): 99-105.
-
(2002)
Ment Retard Dev Disabil Res Rev
, vol.8
, Issue.2
, pp. 99-105
-
-
Hoffbuhr, K.C.1
-
12
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
Weaving, L.S., et al., Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A, 2003. 118A(2): 103-14.
-
(2003)
Am J Med Genet A
, vol.118 A
, Issue.2
, pp. 103-114
-
-
Weaving, L.S.1
-
13
-
-
33750443887
-
Very mild cases of Rett syndrome with skewed X inactivation
-
Huppke, P., et al., Very mild cases of Rett syndrome with skewed X inactivation. J Med Genet, 2006. 43(10): 814-6.
-
(2006)
J Med Genet
, vol.43
, Issue.10
, pp. 814-816
-
-
Huppke, P.1
-
14
-
-
37449007840
-
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype
-
Xinhua, B., et al., X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol, 2008. 23(1): 22-5.
-
(2008)
J Child Neurol
, vol.23
, Issue.1
, pp. 22-25
-
-
Xinhua, B.1
-
15
-
-
2542481314
-
The major form of MeCP2 has a novel N-terminus generated by alternative splicing
-
Kriaucionis, S. and A. Bird, The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res, 2004. 32(5): 1818-23.
-
(2004)
Nucleic Acids Res
, vol.32
, Issue.5
, pp. 1818-1823
-
-
Kriaucionis, S.1
Bird, A.2
-
16
-
-
12144287057
-
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
-
Mnatzakanian, G.N., et al., A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet, 2004. 36(4): 339-41.
-
(2004)
Nat Genet
, vol.36
, Issue.4
, pp. 339-341
-
-
Mnatzakanian, G.N.1
-
17
-
-
33745241820
-
Lost in translation: Translational interference from a recurrent mutation in exon 1 of MECP2
-
Saxena, A., et al., Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet, 2006. 43(6): 470-7.
-
(2006)
J Med Genet
, vol.43
, Issue.6
, pp. 470-477
-
-
Saxena, A.1
-
18
-
-
84862960890
-
Mutations in MECP2 exon 1 in classical Rett patients disruptMECP2 e1 transcription but not transcription of MECP2 e2
-
Gianakopoulos, P.J., et al., Mutations in MECP2 exon 1 in classical Rett patients disruptMECP2 e1 transcription, but not transcription of MECP2 e2. Am JMed Genet B Neuropsychiatr Genet, 2012. 159B(2): 210-6.
-
(2012)
Am JMed Genet B Neuropsychiatr Genet
, vol.159 B
, Issue.2
, pp. 210-216
-
-
Gianakopoulos, P.J.1
-
19
-
-
0032574977
-
Transcriptional repression by the methyl-CpGbinding protein MeCP2 involves a histone deacetylase complex
-
Nan, X., et al., Transcriptional repression by the methyl-CpGbinding protein MeCP2 involves a histone deacetylase complex. Nature, 1998. 393(6683): 386-9.
-
(1998)
Nature
, vol.393
, Issue.6683
, pp. 386-389
-
-
Nan, X.1
-
20
-
-
0031837109
-
Methylated DNAand MeCP2 recruit histone deacetylase to repress transcription
-
Jones, P.L., et al.,Methylated DNAand MeCP2 recruit histone deacetylase to repress transcription. Nat Genet, 1998. 19(2): 187-91.
-
(1998)
Nat Genet
, vol.19
, Issue.2
, pp. 187-191
-
-
Jones, P.L.1
-
21
-
-
0042357071
-
Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation
-
Georgel, P.T., et al., Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. J Biol Chem, 2003. 278(34): 32181-8.
-
(2003)
J Biol Chem
, vol.278
, Issue.34
, pp. 32181-32188
-
-
Georgel, P.T.1
-
22
-
-
33846637375
-
Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin
-
Nikitina, T., et al., Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin. Mol Cell Biol, 2007. 27(3): 864-77.
-
(2007)
Mol Cell Biol
, vol.27
, Issue.3
, pp. 864-877
-
-
Nikitina, T.1
-
23
-
-
0037130455
-
Mice with truncated MeCP2 recapitulatemany Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian, M., et al., Mice with truncated MeCP2 recapitulatemany Rett syndrome features and display hyperacetylation of histone H3. Neuron, 2002. 35(2): 243-54.
-
(2002)
Neuron
, vol.35
, Issue.2
, pp. 243-254
-
-
Shahbazian, M.1
-
24
-
-
76849094693
-
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
-
Skene, P.J., et al., Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell, 2010. 37(4): 457-68.
-
(2010)
Mol Cell
, vol.37
, Issue.4
, pp. 457-468
-
-
Skene, P.J.1
-
25
-
-
37649022627
-
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
-
Yasui, D.H., et al., Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci USA, 2007. 104(49): 19416-21.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, Issue.49
, pp. 19416-19421
-
-
Yasui, D.H.1
-
26
-
-
45849105557
-
MeCP2, a key contributor to neurological disease, activates and represses transcription
-
Chahrour, M., et al., MeCP2, a key contributor to neurological disease, activates and represses transcription. Science, 2008. 320(5880): 1224-9.
-
(2008)
Science
, vol.320
, Issue.5880
, pp. 1224-1229
-
-
Chahrour, M.1
-
27
-
-
56649107908
-
Mecp2-nullmice provide newneuronal targets for Rett syndrome
-
Urdinguio, R.G., et al.,Mecp2-nullmice provide newneuronal targets for Rett syndrome. PLoS One, 2008. 3(11): e3669.
-
(2008)
PLoS One
, vol.3
, Issue.11
-
-
Urdinguio, R.G.1
-
28
-
-
45749147105
-
MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products
-
Yakabe, S., et al., MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products. Genes Genet Syst, 2008. 83(2): 199-208.
-
(2008)
Genes Genet Syst
, vol.83
, Issue.2
, pp. 199-208
-
-
Yakabe, S.1
-
29
-
-
34250333455
-
Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons
-
Smrt, R.D., et al., Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons. Neurobiol Dis, 2007. 27(1): 77-89.
-
(2007)
Neurobiol Dis
, vol.27
, Issue.1
, pp. 77-89
-
-
Smrt, R.D.1
-
30
-
-
0035504192
-
Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription
-
Yu, F., et al., Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription. Nucleic Acids Res, 2001. 29(21): 4493-501.
-
(2001)
Nucleic Acids Res
, vol.29
, Issue.21
, pp. 4493-4501
-
-
Yu, F.1
-
31
-
-
78549247463
-
L1 retrotransposition in neurons is modulated by MeCP2
-
Muotri, A.R., et al., L1 retrotransposition in neurons is modulated by MeCP2. Nature, 2010. 468(7322): 443-6.
-
(2010)
Nature
, vol.468
, Issue.7322
, pp. 443-446
-
-
Muotri, A.R.1
-
32
-
-
80054684399
-
Long non-coding RNA modifies chromatin: Epigenetic silencing by long non-coding RNAs
-
Saxena, A. and P. Carninci, Long non-coding RNA modifies chromatin: epigenetic silencing by long non-coding RNAs. Bioessays, 2011. 33(11): 830-9.
-
(2011)
Bioessays
, vol.33
, Issue.11
, pp. 830-839
-
-
Saxena, A.1
Carninci, P.2
-
33
-
-
77953703353
-
LINE-1 activity in facultative heterochromatin formation during X chromosome inactivation
-
Chow, J.C., et al., LINE-1 activity in facultative heterochromatin formation during X chromosome inactivation. Cell, 2010. 141(6): 956-69.
-
(2010)
Cell
, vol.141
, Issue.6
, pp. 956-969
-
-
Chow, J.C.1
-
34
-
-
84865757142
-
Landscape of transcription in human cells
-
doi:10.1038/nature11233
-
Djebali S, et al., Landscape of transcription in human cells. Nature, 2012. doi:10.1038/nature11233.
-
(2012)
Nature
-
-
Djebali, S.1
-
35
-
-
81855178276
-
Somatic retrotransposition alters the genetic landscape of the human brain
-
Baillie, J.K., et al., Somatic retrotransposition alters the genetic landscape of the human brain. Nature, 2011. 479(7374): 534-7.
-
(2011)
Nature
, vol.479
, Issue.7374
, pp. 534-537
-
-
Baillie, J.K.1
-
36
-
-
33947303168
-
Transposable elements and the epigenetic regulation of the genome
-
Slotkin, R.K. and R. Martienssen, Transposable elements and the epigenetic regulation of the genome. Nat Rev Genet, 2007. 8(4): 272-85.
-
(2007)
Nat Rev Genet
, vol.8
, Issue.4
, pp. 272-285
-
-
Slotkin, R.K.1
Martienssen, R.2
-
37
-
-
33748363713
-
L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells
-
Yang, N. and H.H. Kazazian, Jr., L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells. Nat Struct Mol Biol, 2006. 13(9): 763-71.
-
(2006)
Nat Struct Mol Biol
, vol.13
, Issue.9
, pp. 763-771
-
-
Yang, N.1
Kazazian Jr., H.H.2
-
38
-
-
44349130233
-
Endogenous siRNAs from naturally formed dsRNAs regulate transcripts inmouse oocytes
-
Watanabe, T., et al., Endogenous siRNAs from naturally formed dsRNAs regulate transcripts inmouse oocytes. Nature, 2008. 453(7194): 539-43.
-
(2008)
Nature
, vol.453
, Issue.7194
, pp. 539-543
-
-
Watanabe, T.1
-
39
-
-
33745402414
-
A novel class of small RNAs bind to MILI protein in mouse testes
-
Aravin, A., et al., A novel class of small RNAs bind to MILI protein in mouse testes. Nature, 2006. 442(7099): 203-7.
-
(2006)
Nature
, vol.442
, Issue.7099
, pp. 203-207
-
-
Aravin, A.1
-
40
-
-
33745336617
-
A germline-specific class of small RNAs binds mammalian Piwi proteins
-
Girard, A., et al., A germline-specific class of small RNAs binds mammalian Piwi proteins. Nature, 2006. 442 (7099): 199-202.
-
(2006)
Nature
, vol.442
, Issue.7099
, pp. 199-202
-
-
Girard, A.1
-
41
-
-
84863799077
-
Naturally occurring endo-siRNA silences LINE-1 retrotransposons in human cells through DNA methylation
-
Chen, L., et al., Naturally occurring endo-siRNA silences LINE-1 retrotransposons in human cells through DNA methylation. Epigenetics, 2012. 7(7): 758-71.
-
(2012)
Epigenetics
, vol.7
, Issue.7
, pp. 758-771
-
-
Chen, L.1
-
42
-
-
83055193640
-
Miwi catalysis is required for piRNA amplification-independent LINE1 transposon silencing
-
Reuter, M., et al., Miwi catalysis is required for piRNA amplification-independent LINE1 transposon silencing. Nature, 2011. 480(7376): 264-7.
-
(2011)
Nature
, vol.480
, Issue.7376
, pp. 264-267
-
-
Reuter, M.1
-
43
-
-
79956052873
-
Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus
-
Watanabe, T., et al., Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus. Science, 2011. 332(6031): 848-52.
-
(2011)
Science
, vol.332
, Issue.6031
, pp. 848-852
-
-
Watanabe, T.1
-
44
-
-
33947273235
-
Discrete small RNA-generating loci as master regulators of transposon activity in Drosophila
-
Brennecke, J., et al., Discrete small RNA-generating loci as master regulators of transposon activity in Drosophila. Cell, 2007. 128(6): 1089-103.
-
(2007)
Cell
, vol.128
, Issue.6
, pp. 1089-1103
-
-
Brennecke, J.1
-
45
-
-
33947390781
-
A slicer-mediated mechanism for repeat-associated siRNA 5' end formation in Drosophila
-
Gunawardane, L.S., et al., A slicer-mediated mechanism for repeat-associated siRNA 5' end formation in Drosophila. Science, 2007. 315(5818): 1587-90.
-
(2007)
Science
, vol.315
, Issue.5818
, pp. 1587-1590
-
-
Gunawardane, L.S.1
-
46
-
-
79956204469
-
Identification of piRNAs in the central nervous system
-
Lee, E.J., et al., Identification of piRNAs in the central nervous system. RNA, 2011. 17(6): 1090-9.
-
(2011)
RNA
, vol.17
, Issue.6
, pp. 1090-1099
-
-
Lee, E.J.1
-
47
-
-
78149248751
-
Genome-wide analysis reveals methyl-CpGbinding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome
-
Wu, H., et al., Genome-wide analysis reveals methyl-CpGbinding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome. Proc Natl Acad Sci USA, 2010. 107(42): 18161-6.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.42
, pp. 18161-18166
-
-
Wu, H.1
-
48
-
-
84860742355
-
NONCODE v3.0: Integrative annotation of long noncoding RNAs
-
(Database issue)
-
Bu, D., et al., NONCODE v3.0: integrative annotation of long noncoding RNAs.Nucleic Acids Res, 2012. 40 (Database issue): D210-5.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Bu, D.1
-
49
-
-
79953310937
-
SHRiMP2: Sensitive yet practical short read mapping
-
David, M., et al., SHRiMP2: sensitive yet practical SHort Read Mapping. Bioinformatics, 2011. 27(7): 1011-2.
-
(2011)
Bioinformatics
, vol.27
, Issue.7
, pp. 1011-1012
-
-
David, M.1
-
50
-
-
65349122404
-
Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: Evidence for disruption of neuronal networks
-
Belichenko, P.V., et al., Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks. J Comp Neurol, 2009. 514(3): 240-58.
-
(2009)
J Comp Neurol
, vol.514
, Issue.3
, pp. 240-258
-
-
Belichenko, P.V.1
-
51
-
-
67649487935
-
Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations
-
Chapleau, C.A., et al., Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. Neurobiol Dis, 2009. 35(2): 219-33.
-
(2009)
Neurobiol Dis
, vol.35
, Issue.2
, pp. 219-233
-
-
Chapleau, C.A.1
-
52
-
-
78149409316
-
Export of microRNAs and microRNAprotective protein by mammalian cells
-
Wang, K., et al., Export of microRNAs and microRNAprotective protein by mammalian cells. Nucleic Acids Res, 2010. 38(20): 7248-59.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.20
, pp. 7248-7259
-
-
Wang, K.1
-
53
-
-
80052381608
-
Characterization of extracellular circulating microRNA
-
Turchinovich, A., et al., Characterization of extracellular circulating microRNA. Nucleic Acids Res, 2011. 39(16): 7223-33.
-
(2011)
Nucleic Acids Res
, vol.39
, Issue.16
, pp. 7223-7233
-
-
Turchinovich, A.1
-
54
-
-
84862163088
-
Trehalose-enhanced isolation of neuronal sub-types from adultmouse brain
-
Saxena, A., et al., Trehalose-enhanced isolation of neuronal sub-types from adultmouse brain. Biotechniques, 2012. 52(6): 381-5.
-
(2012)
Biotechniques
, vol.52
, Issue.6
, pp. 381-385
-
-
Saxena, A.1
|