-
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, 23:185-188.
-
(1999)
Nat. Genet.
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
-
2
-
-
80053143413
-
Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model
-
Ananiev G., et al. Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS ONE 2011, 6:e25255.
-
(2011)
PLoS ONE
, vol.6
, pp. e25255
-
-
Ananiev, G.1
-
3
-
-
79955884485
-
Modelling schizophrenia using human induced pluripotent stem cells
-
Brennand K.J., et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature 2011, 473:221-225.
-
(2011)
Nature
, vol.473
, pp. 221-225
-
-
Brennand, K.J.1
-
4
-
-
78751513645
-
Experimental models of Rett syndrome based on Mecp2 dysfunction
-
Calfa G., et al. Experimental models of Rett syndrome based on Mecp2 dysfunction. Exp. Biol. Med. 2011, 236:3-19.
-
(2011)
Exp. Biol. Med.
, vol.236
, pp. 3-19
-
-
Calfa, G.1
-
5
-
-
35648978121
-
The story of Rett syndrome: from clinic to neurobiology
-
Chahrour M., Zoghbi H.Y. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007, 56:422-437.
-
(2007)
Neuron
, vol.56
, pp. 422-437
-
-
Chahrour, M.1
Zoghbi, H.Y.2
-
6
-
-
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, 320:1224-1229.
-
(2008)
Science
, vol.320
, pp. 1224-1229
-
-
Chahrour, M.1
-
7
-
-
62149125434
-
Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
-
Chambers S.M., et al. Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat. Biotechnol. 2009, 27:275-280.
-
(2009)
Nat. Biotechnol.
, vol.27
, pp. 275-280
-
-
Chambers, S.M.1
-
8
-
-
34748831111
-
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
-
Chao H.T., et al. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron 2007, 56:58-65.
-
(2007)
Neuron
, vol.56
, pp. 58-65
-
-
Chao, H.T.1
-
9
-
-
79955602167
-
Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
-
Cheung A.Y., et al. Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum. Mol. Genet. 2011, 20:2103-2115.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2103-2115
-
-
Cheung, A.Y.1
-
10
-
-
84864961375
-
X-chromosome inactivation in Rett syndrome human induced pluripotent stem cells
-
Cheung A.Y., et al. X-chromosome inactivation in Rett syndrome human induced pluripotent stem cells. Front. Psychiatry/Front. Res. Found. 2012, 3:24.
-
(2012)
Front. Psychiatry/Front. Res. Found.
, vol.3
, pp. 24
-
-
Cheung, A.Y.1
-
11
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
Collins A.L., et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet. 2004, 13:2679-2689.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2679-2689
-
-
Collins, A.L.1
-
12
-
-
24644490120
-
Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome
-
Dani V.S., et al. Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:12560-12565.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 12560-12565
-
-
Dani, V.S.1
-
13
-
-
84870067243
-
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations
-
Farra N., et al. Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. Mol. Psychiatry 2012, 17:1261-1271.
-
(2012)
Mol. Psychiatry
, vol.17
, pp. 1261-1271
-
-
Farra, N.1
-
14
-
-
79955625071
-
Constitutive heterochromatin reorganization during somatic cell reprogramming
-
Fussner E., et al. Constitutive heterochromatin reorganization during somatic cell reprogramming. EMBO J. 2011, 30:1778-1789.
-
(2011)
EMBO J.
, vol.30
, pp. 1778-1789
-
-
Fussner, E.1
-
15
-
-
70350317593
-
Membrane capacitance measurements revisited: dependence of capacitance value on measurement method in nonisopotential neurons
-
Golowasch J., et al. Membrane capacitance measurements revisited: dependence of capacitance value on measurement method in nonisopotential neurons. J. Neurophysiol. 2009, 102:2161-2175.
-
(2009)
J. Neurophysiol.
, vol.102
, pp. 2161-2175
-
-
Golowasch, J.1
-
16
-
-
65449121435
-
Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency
-
Hotta A., et al. Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency. Nat. Methods 2009, 6:370-376.
-
(2009)
Nat. Methods
, vol.6
, pp. 370-376
-
-
Hotta, A.1
-
17
-
-
84859945795
-
Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development
-
Itoh M., et al. Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development. J. Biol. Chem. 2012, 287:13859-13867.
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 13859-13867
-
-
Itoh, M.1
-
18
-
-
83255185186
-
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
-
Kerr B., et al. Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur. J. Hum. Genet. 2012, 20:69-76.
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, pp. 69-76
-
-
Kerr, B.1
-
19
-
-
80052155858
-
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
-
Kim K.Y., et al. Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:14169-14174.
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 14169-14174
-
-
Kim, K.Y.1
-
20
-
-
84864090536
-
Highly pure and expandable PSA-NCAM-positive neural precursors from human ESC and iPSC-derived neural rosettes
-
Kim D.S., et al. Highly pure and expandable PSA-NCAM-positive neural precursors from human ESC and iPSC-derived neural rosettes. PLoS ONE 2012, 7:e39715.
-
(2012)
PLoS ONE
, vol.7
, pp. e39715
-
-
Kim, D.S.1
-
21
-
-
7244243971
-
MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions
-
Kishi N., Macklis J.D. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol. Cell. Neurosci. 2004, 27:306-321.
-
(2004)
Mol. Cell. Neurosci.
, vol.27
, pp. 306-321
-
-
Kishi, N.1
Macklis, J.D.2
-
22
-
-
2542481314
-
The major form of MeCP2 has a novel N-terminus generated by alternative splicing
-
Kriaucionis S., Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res. 2004, 32:1818-1823.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 1818-1823
-
-
Kriaucionis, S.1
Bird, A.2
-
23
-
-
84885107449
-
Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons
-
Li Y., et al. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. Cell Stem Cell 2013, 13:446-458.
-
(2013)
Cell Stem Cell
, vol.13
, pp. 446-458
-
-
Li, Y.1
-
24
-
-
28044447812
-
+-current density is correlated with soma size in rat vestibular-afferent neurons in culture
-
+-current density is correlated with soma size in rat vestibular-afferent neurons in culture. J. Neurophysiol. 2005, 94:3751-3761.
-
(2005)
J. Neurophysiol.
, vol.94
, pp. 3751-3761
-
-
Limon, A.1
-
25
-
-
84883462358
-
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
-
Lyst M.J., et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat. Neurosci. 2013, 16:898-902.
-
(2013)
Nat. Neurosci.
, vol.16
, pp. 898-902
-
-
Lyst, M.J.1
-
26
-
-
78149488365
-
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
-
Marchetto M.C., et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 2010, 143:527-539.
-
(2010)
Cell
, vol.143
, pp. 527-539
-
-
Marchetto, M.C.1
-
27
-
-
84860640679
-
Erosion of dosage compensation impacts human iPSC disease modeling
-
Mekhoubad S., et al. Erosion of dosage compensation impacts human iPSC disease modeling. Cell Stem Cell 2012, 10:595-609.
-
(2012)
Cell Stem Cell
, vol.10
, pp. 595-609
-
-
Mekhoubad, S.1
-
28
-
-
84871563384
-
MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system
-
Mellen M., et al. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. Cell 2012, 151:1417-1430.
-
(2012)
Cell
, vol.151
, pp. 1417-1430
-
-
Mellen, M.1
-
29
-
-
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, 36:339-341.
-
(2004)
Nat. Genet.
, vol.36
, pp. 339-341
-
-
Mnatzakanian, G.N.1
-
30
-
-
33645882216
-
MeCP2-dependent transcriptional repression regulates excitatory neurotransmission
-
Nelson E.D., et al. MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Curr. Biol. 2006, 16:710-716.
-
(2006)
Curr. Biol.
, vol.16
, pp. 710-716
-
-
Nelson, E.D.1
-
31
-
-
84863918059
-
MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain
-
Nguyen M.V., et al. MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain. J. Neurosci. 2012, 32:10021-10034.
-
(2012)
J. Neurosci.
, vol.32
, pp. 10021-10034
-
-
Nguyen, M.V.1
-
32
-
-
84856088804
-
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
-
Pasca S.P., et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat. Med. 2011, 17:1657-1662.
-
(2011)
Nat. Med.
, vol.17
, pp. 1657-1662
-
-
Pasca, S.P.1
-
33
-
-
79961133928
-
Unexpected X chromosome skewing during culture and reprogramming of human somatic cells can be alleviated by exogenous telomerase
-
Pomp O., et al. Unexpected X chromosome skewing during culture and reprogramming of human somatic cells can be alleviated by exogenous telomerase. Cell Stem Cell 2011, 9:156-165.
-
(2011)
Cell Stem Cell
, vol.9
, pp. 156-165
-
-
Pomp, O.1
-
34
-
-
69449090636
-
MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy
-
Rastegar M., et al. MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy. PLoS ONE 2009, 4:e6810.
-
(2009)
PLoS ONE
, vol.4
, pp. e6810
-
-
Rastegar, M.1
-
35
-
-
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, 37:457-468.
-
(2010)
Mol. Cell
, vol.37
, pp. 457-468
-
-
Skene, P.J.1
-
36
-
-
70349624340
-
Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndrome
-
Taneja P., et al. Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndrome. J. Neurosci. 2009, 29:12187-12195.
-
(2009)
J. Neurosci.
, vol.29
, pp. 12187-12195
-
-
Taneja, P.1
-
37
-
-
77956222202
-
Female human iPSCs retain an inactive X chromosome
-
Tchieu J., et al. Female human iPSCs retain an inactive X chromosome. Cell Stem Cell 2010, 7:329-342.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 329-342
-
-
Tchieu, J.1
-
38
-
-
84896978613
-
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
-
Yasui D.H., et al. Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum. Mol. Genet. 2014, 23:2447-2458.
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 2447-2458
-
-
Yasui, D.H.1
-
39
-
-
84866647783
-
Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons
-
Yazdani M., et al. Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons. Stem Cells 2012, 30:2128-2139.
-
(2012)
Stem Cells
, vol.30
, pp. 2128-2139
-
-
Yazdani, M.1
-
40
-
-
77749279664
-
Intrinsic membrane properties of locus coeruleus neurons in Mecp2-null mice
-
Zhang X., et al. Intrinsic membrane properties of locus coeruleus neurons in Mecp2-null mice. Am. J. Physiol. Cell Physiol. 2010, 298:C635-C646.
-
(2010)
Am. J. Physiol. Cell Physiol.
, vol.298
, pp. C635-C646
-
-
Zhang, X.1
|