-
1
-
-
0014011176
-
Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter
-
Rett A (1966) Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Wien Med Wochenschr 116: 723-738
-
(1966)
Wien Med Wochenschr
, vol.116
, pp. 723-738
-
-
Rett, A.1
-
2
-
-
27144442014
-
Abnormal general movements in girls with Rett disorder: The first four months of life
-
Einspieler C et al. (2005) Abnormal general movements in girls with Rett disorder: The first four months of life. Brain Dev 27 (Suppl 1): S8-S13
-
(2005)
Brain Dev
, vol.27
, Issue.SUPPL. 1
-
-
Einspieler, C.1
-
3
-
-
0030876388
-
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
-
Schanen NC et al. (1997) A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 61: 634-641
-
(1997)
Am J Hum Genet
, vol.61
, pp. 634-641
-
-
Schanen, N.C.1
-
4
-
-
0032231726
-
A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
-
Schanen NC and Francke U (1998) A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Am J Hum Genet 63: 267-269
-
(1998)
Am J Hum Genet
, vol.63
, pp. 267-269
-
-
Schanen, N.C.1
Francke, U.2
-
5
-
-
85058249351
-
Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
-
Sirianni N et al. (1998) Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 63: 1552-1558
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1552-1558
-
-
Sirianni, N.1
-
6
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir RE et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188
-
(1999)
Nat Genet
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
-
7
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotpots
-
Wan M et al. (1999) Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotpots. Am J Hum Genet 65: 1520-1529
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
-
8
-
-
18344363103
-
Large genomic rearrangements in MECP2
-
Ravn K et al. (2005) Large genomic rearrangements in MECP2. Hum Mutat 25: 324
-
(2005)
Hum Mutat
, vol.25
, pp. 324
-
-
Ravn, K.1
-
9
-
-
12144287057
-
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
-
Mnatzakanian GN et al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 36: 339-341
-
(2004)
Nat Genet
, vol.36
, pp. 339-341
-
-
Mnatzakanian, G.N.1
-
10
-
-
2542481314
-
The major form of MeCP2 has a novel N-terminus generated by alternative splicing
-
Kriaucionis S and Bird A (2004) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 32: 1818-1823
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 1818-1823
-
-
Kriaucionis, S.1
Bird, A.2
-
11
-
-
27144488484
-
Mutations in axon 1 of MECP2 are a rare cause of Rett syndrome
-
Amir RE et al. (2005) Mutations in axon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 42: E15
-
(2005)
J Med Genet
, vol.42
-
-
Amir, R.E.1
-
12
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
Hoffbuhr K et al. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56: 1486-1495
-
(2001)
Neurology
, vol.56
, pp. 1486-1495
-
-
Hoffbuhr, K.1
-
13
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
Weaving LS et al. (2003) Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet A 118: 103-114
-
(2003)
Am J Med Genet A
, vol.118
, pp. 103-114
-
-
Weaving, L.S.1
-
14
-
-
0036083275
-
Influence of mutation type and location on phenotype in 123 patients with Rett Syndrome
-
Huppke P et al. (2002) Influence of mutation type and location on phenotype in 123 patients with Rett Syndrome. Neuropediatrics 33: 63-68
-
(2002)
Neuropediatrics
, vol.33
, pp. 63-68
-
-
Huppke, P.1
-
15
-
-
1642482969
-
Refining the phenotype of common mutations in Rett syndrome
-
Colvin L et al. (2004) Refining the phenotype of common mutations in Rett syndrome. J Med Genet 41: 25-30
-
(2004)
J Med Genet
, vol.41
, pp. 25-30
-
-
Colvin, L.1
-
16
-
-
19944427298
-
Rett syndrome in females with CTS hot spot deletions: A disorder profile
-
Smeets E et al. (2005) Rett syndrome in females with CTS hot spot deletions: A disorder profile. Am J Med Genet A 132: 117-120
-
(2005)
Am J Med Genet A
, vol.132
, pp. 117-120
-
-
Smeets, E.1
-
17
-
-
3042847437
-
MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism
-
Shibayama A et al. (2004) MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism. Am J Med Genet B Neuropsychiatr Genet 128: 50-53
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.128
, pp. 50-53
-
-
Shibayama, A.1
-
18
-
-
0035078664
-
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
-
Imessaoudene B et al. (2001) MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet 38: 171-174
-
(2001)
J Med Genet
, vol.38
, pp. 171-174
-
-
Imessaoudene, B.1
-
19
-
-
1442332954
-
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS
-
Hitchins MP et al. (2004) Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. Am J Med Genet A 125: 167-172
-
(2004)
Am J Med Genet A
, vol.125
, pp. 167-172
-
-
Hitchins, M.P.1
-
20
-
-
10744229982
-
MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics
-
Kleefstra T et al. (2004) MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Eur J Hum Genet 12: 24-28
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 24-28
-
-
Kleefstra, T.1
-
21
-
-
0036818764
-
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome
-
Maiwald R et al. (2002) De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. Neurogenetics 4: 107-108
-
(2002)
Neurogenetics
, vol.4
, pp. 107-108
-
-
Maiwald, R.1
-
22
-
-
0034596477
-
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
-
Clayton-Smith J et al. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 356: 830-832
-
(2000)
Lancet
, vol.356
, pp. 830-832
-
-
Clayton-Smith, J.1
-
23
-
-
85047697344
-
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
-
Topcu M et al. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 10: 77-81
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 77-81
-
-
Topcu, M.1
-
24
-
-
0034711147
-
Two affected boys in a Rett syndrome family: Clinical and molecular findings
-
Villard L et al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 55: 1188-1193
-
(2000)
Neurology
, vol.55
, pp. 1188-1193
-
-
Villard, L.1
-
25
-
-
0036120278
-
Rett syndrome: Clinical manifestations in males with MECP2 mutations
-
Zeev BB et al. (2002) Rett syndrome: Clinical manifestations in males with MECP2 mutations. J Child Neurol 17: 20-24
-
(2002)
J Child Neurol
, vol.17
, pp. 20-24
-
-
Zeev, B.B.1
-
26
-
-
0037542471
-
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
-
Lynch SA et al. (2003) Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. Arch Dis Child Fetal Neonatal Ed 88: F250-252
-
(2003)
Arch Dis Child Fetal Neonatal Ed
, vol.88
-
-
Lynch, S.A.1
-
27
-
-
8844247168
-
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
-
Leuzzi V et al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. Neurology 63: 1968-1970
-
(2004)
Neurology
, vol.63
, pp. 1968-1970
-
-
Leuzzi, V.1
-
28
-
-
0033804436
-
A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
-
Meloni I et al. (2000) A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 67: 982-985
-
(2000)
Am J Hum Genet
, vol.67
, pp. 982-985
-
-
Meloni, I.1
-
29
-
-
0035991641
-
Low frequency of MECP2 mutations in mentally retarded males
-
Yntema HG et al. (2002) Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 10: 487-490
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 487-490
-
-
Yntema, H.G.1
-
30
-
-
19944429726
-
MECP2 mutation analysis in patients with mental retardation
-
Ylisaukko-Oja T et al. (2005) MECP2 mutation analysis in patients with mental retardation. Am J Med Genet A 132: 121-124
-
(2005)
Am J Med Genet A
, vol.132
, pp. 121-124
-
-
Ylisaukko-Oja, T.1
-
31
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
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. Am J Hum Genet 77: 442-453
-
(2005)
Am J Hum Genet
, vol.77
, pp. 442-453
-
-
Van Esch, H.1
-
32
-
-
27144463130
-
Early onset seizures and Rett-like features associated with mutations in CDKL5
-
Evans JC et al. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13: 1113-1120
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1113-1120
-
-
Evans, J.C.1
-
33
-
-
0030071685
-
The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
-
Tate P et al. (1996) The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nature Genet 12: 205-208
-
(1996)
Nature Genet
, vol.12
, pp. 205-208
-
-
Tate, P.1
-
34
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen RZ et al. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27: 327-331
-
(2001)
Nat Genet
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
-
35
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy J et al. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27: 322-326
-
(2001)
Nat Genet
, vol.27
, pp. 322-326
-
-
Guy, J.1
-
36
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian M et al. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35: 243-254
-
(2002)
Neuron
, vol.35
, pp. 243-254
-
-
Shahbazian, M.1
-
37
-
-
1942533500
-
Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice
-
Luikenhuis S et al. (2004) Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc Natl Acad Sci USA 101: 6033-6038
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 6033-6038
-
-
Luikenhuis, S.1
-
38
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
Collins AL et al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 13: 2679-2689
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2679-2689
-
-
Collins, A.L.1
-
39
-
-
2542433290
-
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
-
Traynor J et al. (2002) Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet 3: 12
-
(2002)
BMC Med Genet
, vol.3
, pp. 12
-
-
Traynor, J.1
-
40
-
-
0041843793
-
Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome
-
Ronnett GV et al. (2003) Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome. Ann Neurol 54: 206-218
-
(2003)
Ann Neurol
, vol.54
, pp. 206-218
-
-
Ronnett, G.V.1
-
41
-
-
0037081840
-
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
-
Shahbazian MD et al. (2002) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 11: 115-124
-
(2002)
Hum Mol Genet
, vol.11
, pp. 115-124
-
-
Shahbazian, M.D.1
-
42
-
-
0037381336
-
The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells
-
Jung BP et al. (2003) The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J Neurobiol 55: 86-96
-
(2003)
J Neurobiol
, vol.55
, pp. 86-96
-
-
Jung, B.P.1
-
43
-
-
20444471996
-
A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth
-
Nagai K et al. (2005) A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth. Brain Res Dev Brain Res 157: 103-106
-
(2005)
Brain Res Dev Brain Res
, vol.157
, pp. 103-106
-
-
Nagai, K.1
-
44
-
-
7244243971
-
MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions
-
Kishi N and Macklis JD (2004) MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci 27: 306-321
-
(2004)
Mol Cell Neurosci
, vol.27
, pp. 306-321
-
-
Kishi, N.1
Macklis, J.D.2
-
45
-
-
4444333589
-
The transcriptional repressor Mecp2 regulates terminal neuronal differentiation
-
Matarazzo V et al. (2004) The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. Mol Cell Neurosci 27: 44-58
-
(2004)
Mol Cell Neurosci
, vol.27
, pp. 44-58
-
-
Matarazzo, V.1
-
46
-
-
0026747761
-
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
-
Lewis JD et al. (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69: 905-914
-
(1992)
Cell
, vol.69
, pp. 905-914
-
-
Lewis, J.D.1
-
47
-
-
0342437491
-
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
-
Nan X et al. (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88: 471-481
-
(1997)
Cell
, vol.88
, pp. 471-481
-
-
Nan, X.1
-
48
-
-
0035823532
-
The Ski protein family is required for MeCP2-mediated transcriptional repression
-
Kokura K et al. (2001) The Ski protein family is required for MeCP2-mediated transcriptional repression. J Biol Chem 276: 34115-34121
-
(2001)
J Biol Chem
, vol.276
, pp. 34115-34121
-
-
Kokura, K.1
-
49
-
-
20144379888
-
Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing
-
Harikrishnan KN et al. (2005) Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. Nat Genet 37: 254-264
-
(2005)
Nat Genet
, vol.37
, pp. 254-264
-
-
Harikrishnan, K.N.1
-
50
-
-
8744229966
-
MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex
-
Klose RJ and Bird AP (2004) MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex. J Biol Chem 279: 46490-46496
-
(2004)
J Biol Chem
, vol.279
, pp. 46490-46496
-
-
Klose, R.J.1
Bird, A.P.2
-
51
-
-
0038412822
-
The DNA methyltransferases associate with HP1 and the SUV39H1 histone methyltransferase
-
Fuks F et al. (2003) The DNA methyltransferases associate with HP1 and the SUV39H1 histone methyltransferase. Nucleic Acids Res 31: 2305-2312
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 2305-2312
-
-
Fuks, F.1
-
52
-
-
0038136913
-
Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1
-
Kimura H and Shiota K (2003) Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1. J Biol Chem 278: 4806-4812
-
(2003)
J Biol Chem
, vol.278
, pp. 4806-4812
-
-
Kimura, H.1
Shiota, K.2
-
53
-
-
10344250458
-
Components of the DNA methylation system of chromatin control are RNA-binding proteins
-
Jeffery L and Nakielny S (2004) Components of the DNA methylation system of chromatin control are RNA-binding proteins. J Biol Chem 279: 49479-49487
-
(2004)
J Biol Chem
, vol.279
, pp. 49479-49487
-
-
Jeffery, L.1
Nakielny, S.2
-
54
-
-
10744222511
-
A WW domain binding region in methyl-CpG-binding protein MeCP2: Impact on Rett syndrome
-
Buschdorf JP and Stratling WH (2004) A WW domain binding region in methyl-CpG-binding protein MeCP2: Impact on Rett syndrome. J Mol Med 82: 135-143
-
(2004)
J Mol Med
, vol.82
, pp. 135-143
-
-
Buschdorf, J.P.1
Stratling, W.H.2
-
55
-
-
29144447632
-
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
-
Young JI et al. (2005) Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci USA 102: 17551-17558
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 17551-17558
-
-
Young, J.I.1
-
56
-
-
0025965095
-
A matrix/scaffold attachment region binding protein: Identification, purification, and mode of binding
-
von Kries JP et al. (1991) A matrix/scaffold attachment region binding protein: Identification, purification, and mode of binding. Cell 64: 123-135
-
(1991)
Cell
, vol.64
, pp. 123-135
-
-
von Kries, J.P.1
-
57
-
-
0033152745
-
The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
-
Chandler SP et al. (1999) The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemistry 38: 7008-7018
-
(1999)
Biochemistry
, vol.38
, pp. 7008-7018
-
-
Chandler, S.P.1
-
58
-
-
0042357071
-
Chromatin compaction by human MeCP2: Assembly of novel secondary chromatin structures in the absence of DNA methylation
-
Georgel PT et al. (2003) Chromatin compaction by human MeCP2: Assembly of novel secondary chromatin structures in the absence of DNA methylation. J Biol Chem 278: 32181-32188
-
(2003)
J Biol Chem
, vol.278
, pp. 32181-32188
-
-
Georgel, P.T.1
-
59
-
-
11244328520
-
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
-
Horike S et al. (2005) Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 37: 31-40
-
(2005)
Nat Genet
, vol.37
, pp. 31-40
-
-
Horike, S.1
-
60
-
-
0032602980
-
Epigenetic control of gene expression
-
Razin A and Shemer R (1999) Epigenetic control of gene expression. Results Probl Cell Differ 25: 189-204
-
(1999)
Results Probl Cell Differ
, vol.25
, pp. 189-204
-
-
Razin, A.1
Shemer, R.2
-
61
-
-
0036626596
-
MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain
-
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. Hum Genet 110: 545-552
-
(2002)
Hum Genet
, vol.110
, pp. 545-552
-
-
Balmer, D.1
-
62
-
-
3042718509
-
Dlx5, the mouse homologue of the human-imprinted DLX5 gene, is biallelically expressed in the mouse brain
-
Kimura MI et al. (2004) Dlx5, the mouse homologue of the human-imprinted DLX5 gene, is biallelically expressed in the mouse brain. J Hum Genet 49: 273-277
-
(2004)
J Hum Genet
, vol.49
, pp. 273-277
-
-
Kimura, M.I.1
-
63
-
-
14044252235
-
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
-
Samaco RC et al. (2005) Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14: 483-492
-
(2005)
Hum Mol Genet
, vol.14
, pp. 483-492
-
-
Samaco, R.C.1
-
64
-
-
17744380972
-
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
-
Makedonski K et al. (2005) MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet 14: 1049-1058
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1049-1058
-
-
Makedonski, K.1
-
65
-
-
13844266562
-
Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: Implications for methyl-CpG binding proteins
-
Gartler SM et al. (2004) Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: Implications for methyl-CpG binding proteins. BMC Biol 2: 21
-
(2004)
BMC Biol
, vol.2
, pp. 21
-
-
Gartler, S.M.1
-
66
-
-
0035160042
-
Gene expression profiling in postmortem Rett syndrome brain: Differential gene expression and patient classification
-
Colantuoni C et al. (2001) Gene expression profiling in postmortem Rett syndrome brain: Differential gene expression and patient classification. Neurobiol Dis 8: 847-865
-
(2001)
Neurobiol Dis
, vol.8
, pp. 847-865
-
-
Colantuoni, C.1
-
67
-
-
0037180492
-
Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain
-
Tudor M et al. (2002) Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc Natl Acad Sci USA 99: 15536-15541
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 15536-15541
-
-
Tudor, M.1
-
68
-
-
19944426483
-
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients
-
Ballestar E et al. (2005) The impact of MECP2 mutations in the expression patterns of Rett syndrome patients. Hum Genet 116: 91-104
-
(2005)
Hum Genet
, vol.116
, pp. 91-104
-
-
Ballestar, E.1
-
69
-
-
0043178993
-
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos
-
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. Mol Cell 12: 425-435
-
(2003)
Mol Cell
, vol.12
, pp. 425-435
-
-
Stancheva, I.1
-
70
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
-
Chen WG et al. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302: 885-889
-
(2003)
Science
, vol.302
, pp. 885-889
-
-
Chen, W.G.1
-
71
-
-
0242300612
-
DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
-
Martinowich K et al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302: 890-893
-
(2003)
Science
, vol.302
, pp. 890-893
-
-
Martinowich, K.1
-
72
-
-
31444434393
-
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
-
Chang Q et al. (2006) The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 49: 341-348
-
(2006)
Neuron
, vol.49
, pp. 341-348
-
-
Chang, Q.1
-
73
-
-
0042133327
-
Brain-derived neurotrophic factor is required for the maintenance of cortical dendrites
-
Gorski JA et al. (2003) Brain-derived neurotrophic factor is required for the maintenance of cortical dendrites. J Neurosci 23: 6856-6865
-
(2003)
J Neurosci
, vol.23
, pp. 6856-6865
-
-
Gorski, J.A.1
-
74
-
-
11144307314
-
NGF controls dendrite development in hippocampal neurons by binding to p75NTR and modulating the cellular targets of Notch
-
Salama-Cohen P et al. (2005) NGF controls dendrite development in hippocampal neurons by binding to p75NTR and modulating the cellular targets of Notch. Mol Biol Cell 16: 339-347
-
(2005)
Mol Biol Cell
, vol.16
, pp. 339-347
-
-
Salama-Cohen, P.1
-
75
-
-
0029002145
-
The neuropathology of Rett syndrome - Overview 1994
-
Armstrong DD (1995) The neuropathology of Rett syndrome - overview 1994. Neuropediatrics 26: 100-104
-
(1995)
Neuropediatrics
, vol.26
, pp. 100-104
-
-
Armstrong, D.D.1
-
76
-
-
33645376324
-
Dendritic alterations in the brains of mouse models of Rett syndrome
-
2005 June 27-29; Itasca, IL
-
Belichenko PV et al. (2005) Dendritic alterations in the brains of mouse models of Rett syndrome. In Proceedings of the RSRF 6th Annual Rett Syndrome Symposium, 2005 June 27-29; Itasca, IL
-
(2005)
Proceedings of the RSRF 6th Annual Rett Syndrome Symposium
-
-
Belichenko, P.V.1
-
77
-
-
26444516160
-
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
-
Nuber UA et al. (2005) Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Hum Mol Genet 14: 2247-2256
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2247-2256
-
-
Nuber, U.A.1
|