-
1
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
-
Najmabadi H, Hu H, Garshasbi M et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478(7367), 57-63 (2011).
-
(2011)
Nature
, vol.478
, Issue.7367
, pp. 57-63
-
-
Najmabadi, H.1
Hu, H.2
Garshasbi, M.3
-
2
-
-
84900986803
-
Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene
-
Takata A, Xu B, Ionita-Laza I, Roos JL, Gogos JA, Karayiorgou M. Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. Neuron 82(4), 773-780 (2014).
-
(2014)
Neuron
, vol.82
, Issue.4
, pp. 773-780
-
-
Takata, A.1
Xu, B.2
Ionita-Laza, I.3
Roos, J.L.4
Gogos, J.A.5
Karayiorgou, M.6
-
3
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov I, O'roak BJ, Sanders SJ et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515(7526), 216-221 (2014).
-
(2014)
Nature
, vol.515
, Issue.7526
, pp. 216-221
-
-
Iossifov, I.1
O'roak, B.J.2
Sanders, S.J.3
-
4
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis S, He X, Goldberg AP et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515(7526), 209-215 (2014).
-
(2014)
Nature
, vol.515
, Issue.7526
, pp. 209-215
-
-
De Rubeis, S.1
He, X.2
Goldberg, A.P.3
-
5
-
-
65549104157
-
Histone modifications at human enhancers reflect global cell-typespecific gene expression
-
Heintzman ND, Hon GC, Hawkins RD et al. Histone modifications at human enhancers reflect global cell-typespecific gene expression. Nature 459(7243), 108-112 (2009).
-
(2009)
Nature
, vol.459
, Issue.7243
, pp. 108-112
-
-
Heintzman, N.D.1
Hon, G.C.2
Hawkins, R.D.3
-
6
-
-
33847334699
-
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
-
Heintzman ND, Stuart RK, Hon G et al. Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat. Genet. 39(3), 311-318 (2007).
-
(2007)
Nat. Genet.
, vol.39
, Issue.3
, pp. 311-318
-
-
Heintzman, N.D.1
Stuart, R.K.2
Hon, G.3
-
7
-
-
34249026300
-
High-resolution profiling of histone methylations in the human genome
-
Barski A, Cuddapah S, Cui K et al. High-resolution profiling of histone methylations in the human genome. Cell 129(4), 823-837 (2007).
-
(2007)
Cell
, vol.129
, Issue.4
, pp. 823-837
-
-
Barski, A.1
Cuddapah, S.2
Cui, K.3
-
8
-
-
84873310426
-
Genome-wide chromatin state transitions associated with developmental and environmental cues
-
Zhu J, Adli M, Zou JY et al. Genome-wide chromatin state transitions associated with developmental and environmental cues. Cell 152(3), 642-654 (2013).
-
(2013)
Cell
, vol.152
, Issue.3
, pp. 642-654
-
-
Zhu, J.1
Adli, M.2
Zou, J.Y.3
-
9
-
-
77952715009
-
Developmental regulation and individual differences of neuronal H3K4me3 epigenomes in the prefrontal cortex
-
USA
-
Cheung I, Shulha HP, Jiang Y et al. Developmental regulation and individual differences of neuronal H3K4me3 epigenomes in the prefrontal cortex. Proc. Natl Acad. Sci. USA 107(19), 8824-8829 (2010).
-
(2010)
Proc. Natl Acad. Sci.
, vol.107
, Issue.19
, pp. 8824-8829
-
-
Cheung, I.1
Shulha, H.P.2
Jiang, Y.3
-
10
-
-
34547793043
-
Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression
-
Lan F, Collins RE, De Cegli R et al. Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression. Nature 448(7154), 718-722 (2007).
-
(2007)
Nature
, vol.448
, Issue.7154
, pp. 718-722
-
-
Lan, F.1
Collins, R.E.2
De Cegli, R.3
-
11
-
-
34547725157
-
DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA
-
Ooi SK, Qiu C, Bernstein E et al. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. Nature 448(7154), 714-717 (2007).
-
(2007)
Nature
, vol.448
, Issue.7154
, pp. 714-717
-
-
Ooi, S.K.1
Qiu, C.2
Bernstein, E.3
-
12
-
-
33846019277
-
Methylation of lysine on histone H3: Intricacy of writing and reading a single epigenetic mark
-
Ruthenburg AJ, Allis CD, Wysocka J. Methylation of lysine on histone H3: intricacy of writing and reading a single epigenetic mark. Mol. Cell. 25(1), 15-30 (2007).
-
(2007)
Mol. Cell.
, vol.25
, Issue.1
, pp. 15-30
-
-
Ruthenburg, A.J.1
Allis, C.D.2
Wysocka, J.3
-
13
-
-
84859893371
-
Histone methylation: A dynamic mark in health, disease and inheritance
-
Greer EL, Shi Y. Histone methylation: a dynamic mark in health, disease and inheritance. Nat. Rev. Genet. 13(5), 343-357 (2012).
-
(2012)
Nat. Rev. Genet.
, vol.13
, Issue.5
, pp. 343-357
-
-
Greer, E.L.1
Shi, Y.2
-
14
-
-
84876886897
-
Coordinated cell type-specific epigenetic remodeling in prefrontal cortex begins before birth and continues into early adulthood
-
Shulha HP, Cheung I, Guo Y, Akbarian S, Weng Z. Coordinated cell type-specific epigenetic remodeling in prefrontal cortex begins before birth and continues into early adulthood. PLoS Genet. 9(4), e1003433 (2013).
-
(2013)
PLoS Genet.
, vol.9
, Issue.4
, pp. e1003433
-
-
Shulha, H.P.1
Cheung, I.2
Guo, Y.3
Akbarian, S.4
Weng, Z.5
-
15
-
-
40349088818
-
Epigenetic regulation of Hox gene activation: The waltz of methyls
-
Soshnikova N, Duboule D. Epigenetic regulation of Hox gene activation: the waltz of methyls. Bioessays 30(3), 199-202 (2008).
-
(2008)
Bioessays
, vol.30
, Issue.3
, pp. 199-202
-
-
Soshnikova, N.1
Duboule, D.2
-
16
-
-
77954134377
-
Role of H3K4 demethylases in complex neurodevelopmental diseases
-
Wynder C, Stalker L, Doughty ML. Role of H3K4 demethylases in complex neurodevelopmental diseases. Epigenomics 2(3), 407-418 (2010).
-
(2010)
Epigenomics
, vol.2
, Issue.3
, pp. 407-418
-
-
Wynder, C.1
Stalker, L.2
Doughty, M.L.3
-
17
-
-
84906086344
-
Regulation of histone H3K4 methylation in brain development and disease
-
Shen E, Shulha H, Weng Z, Akbarian S. Regulation of histone H3K4 methylation in brain development and disease. Philos. Trans. R Soc. Lond. B Biol. Sci. 369(1652), (2014).
-
(2014)
Philos. Trans. R Soc. Lond. B Biol. Sci.
, vol.369
, Issue.1652
-
-
Shen, E.1
Shulha, H.2
Weng, Z.3
Akbarian, S.4
-
18
-
-
84902545871
-
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome
-
Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Am. J. Med. Genet. A 164(7), 1744-1749 (2014).
-
(2014)
Am. J. Med. Genet. A
, vol.164
, Issue.7
, pp. 1744-1749
-
-
Tunovic, S.1
Barkovich, J.2
Sherr, E.H.3
Slavotinek, A.M.4
-
19
-
-
84890792446
-
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection
-
Athanasakis E, Licastro D, Faletra F et al. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am. J. Med. Genet. A 164(1), 170-176 (2014).
-
(2014)
Am. J. Med. Genet. A
, vol.164
, Issue.1
, pp. 170-176
-
-
Athanasakis, E.1
Licastro, D.2
Faletra, F.3
-
20
-
-
84863988746
-
Translocations disrupting PHF21A in the Potocki-Shaffer syndrome region are associated with intellectual disability and craniofacial anomalies
-
Kim HG, Kim HT, Leach NT et al. Translocations disrupting PHF21A in the Potocki-Shaffer syndrome region are associated with intellectual disability and craniofacial anomalies. Am. J. Hum. Genet. 91(1), 56-72 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, Issue.1
, pp. 56-72
-
-
Kim, H.G.1
Kim, H.T.2
Leach, N.T.3
-
21
-
-
26944461197
-
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/ cleft palate
-
Laumonnier F, Holbert S, Ronce N et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/ cleft palate. J. Med. Genet. 42(10), 780-786 (2005).
-
(2005)
J. Med. Genet.
, vol.42
, Issue.10
, pp. 780-786
-
-
Laumonnier, F.1
Holbert, S.2
Ronce, N.3
-
22
-
-
36049028058
-
New nomenclature for chromatin-modifying enzymes
-
Allis CD, Berger SL, Cote J et al. New nomenclature for chromatin-modifying enzymes. Cell 131(4), 633-636 (2007).
-
(2007)
Cell
, vol.131
, Issue.4
, pp. 633-636
-
-
Allis, C.D.1
Berger, S.L.2
Cote, J.3
-
23
-
-
84861870951
-
The COMPASS family of histone H3K4 methylases: Mechanisms of regulation in development and disease pathogenesis
-
Shilatifard A. The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Annu. Rev. Biochem. 81, 65-95 (2012).
-
(2012)
Annu. Rev. Biochem.
, vol.81
, pp. 65-95
-
-
Shilatifard, A.1
-
24
-
-
33746849256
-
Regulation of MLL1 H3K4 methyltransferase activity by its core components
-
Dou YL, Milne TA, Ruthenburg AJ et al. Regulation of MLL1 H3K4 methyltransferase activity by its core components. Nat. Struct. Mol. Biol. 13(8), 713-719 (2006).
-
(2006)
Nat. Struct. Mol. Biol.
, vol.13
, Issue.8
, pp. 713-719
-
-
Dou, Y.L.1
Milne, T.A.2
Ruthenburg, A.J.3
-
25
-
-
0025833975
-
Identification of a gene, Mll, that spans the breakpoint in 11q23 translocations associated with human leukemias
-
USA
-
Zieminvanderpoel S, Mccabe NR, Gill HJ et al. Identification of a gene, Mll, that spans the breakpoint in 11q23 translocations associated with human leukemias. Proc. Natl Acad. Sci. USA 88(23), 10735-10739 (1991).
-
(1991)
Proc. Natl Acad. Sci.
, vol.88
, Issue.23
, pp. 10735-10739
-
-
Zieminvanderpoel, S.1
McCabe, N.R.2
Gill, H.J.3
-
26
-
-
0026335115
-
Cloning of All-1, the locus involved in leukemias with the T(4-11) (Q21-Q23),T(9-11)(P22-Q23), and T(11-19)(Q23-P13) chromosome translocations
-
Cimino G, Moir DT, Canaani O et al. Cloning of All-1, the locus involved in leukemias with the T(4-11) (Q21-Q23),T(9-11)(P22-Q23), and T(11-19)(Q23-P13) chromosome translocations. Cancer Res. 51(24), 6712-6714 (1991).
-
(1991)
Cancer Res.
, vol.51
, Issue.24
, pp. 6712-6714
-
-
Cimino, G.1
Moir, D.T.2
Canaani, O.3
-
27
-
-
84903318885
-
De novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
-
Strom SP, Lozano R, Lee H et al. De novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med. Genet. 15, 49 (2014).
-
(2014)
BMC Med. Genet.
, vol.15
, pp. 49
-
-
Strom, S.P.1
Lozano, R.2
Lee, H.3
-
28
-
-
84864958596
-
De novo mutations in MLL cause Wiedemann-Steiner syndrome
-
Jones WD, Dafou D, Mcentagart M et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am. J. Hum. Genet. 91(2), 358-364 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, Issue.2
, pp. 358-364
-
-
Jones, W.D.1
Dafou, D.2
McEntagart, M.3
-
29
-
-
84881667094
-
MLL2 and KDM6A mutations in patients with Kabuki syndrome
-
Miyake N, Koshimizu E, Okamoto N et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am. J. Med. Genet. A 161(9), 2234-2243 (2013).
-
(2013)
Am. J. Med. Genet. A
, vol.161
, Issue.9
, pp. 2234-2243
-
-
Miyake, N.1
Koshimizu, E.2
Okamoto, N.3
-
30
-
-
0028091804
-
11q23 translocations split the "AT-hook" cruciform DNA-binding region and the transcriptional repression domain from the activation domain of the mixed-lineage leukemia (MLL) gene
-
USA
-
Zeleznik-Le NJ, Harden AM, Rowley JD. 11q23 translocations split the "AT-hook" cruciform DNA-binding region and the transcriptional repression domain from the activation domain of the mixed-lineage leukemia (MLL) gene. Proc. Natl Acad. Sci. USA 91(22), 10610-10614 (1994).
-
(1994)
Proc. Natl Acad. Sci.
, vol.91
, Issue.22
, pp. 10610-10614
-
-
Zeleznik-Le, N.J.1
Harden, A.M.2
Rowley, J.D.3
-
31
-
-
20444417108
-
WDR5 associates with histone H3 methylated at K4 and is essential for H3K4 methylation and vertebrate development
-
Wysocka J, Swigut T, Milne TA et al. WDR5 associates with histone H3 methylated at K4 and is essential for H3K4 methylation and vertebrate development. Cell 121(6), 859-872 (2005).
-
(2005)
Cell
, vol.121
, Issue.6
, pp. 859-872
-
-
Wysocka, J.1
Swigut, T.2
Milne, T.A.3
-
32
-
-
82255183199
-
Handpicking epigenetic marks with PHD fingers
-
Musselman CA, Kutateladze TG. Handpicking epigenetic marks with PHD fingers. Nucleic Acids Res. 39(21), 9061-9071 (2011).
-
(2011)
Nucleic Acids Res.
, vol.39
, Issue.21
, pp. 9061-9071
-
-
Musselman, C.A.1
Kutateladze, T.G.2
-
33
-
-
77953912031
-
Pro isomerization in MLL1 PHD3-bromo cassette connects H3K4me readout to CyP33 and HDAC-mediated repression
-
Wang Z, Song J, Milne TA et al. Pro isomerization in MLL1 PHD3-bromo cassette connects H3K4me readout to CyP33 and HDAC-mediated repression. Cell 141(7), 1183-1194 (2010).
-
(2010)
Cell
, vol.141
, Issue.7
, pp. 1183-1194
-
-
Wang, Z.1
Song, J.2
Milne, T.A.3
-
34
-
-
84871547812
-
A subset of mixed lineage leukemia proteins has plant homeodomain (PHD)-mediated E3 ligase activity
-
Wang J, Muntean AG, Wu L, Hess JL. A subset of mixed lineage leukemia proteins has plant homeodomain (PHD)-mediated E3 ligase activity. J. Biol. Chem. 287(52), 43410-43416 (2012).
-
(2012)
J. Biol. Chem.
, vol.287
, Issue.52
, pp. 43410-43416
-
-
Wang, J.1
Muntean, A.G.2
Wu, L.3
Hess, J.L.4
-
35
-
-
84882944319
-
An alternative splice process renders the MLL protein either into a transcriptional activator or repressor
-
Rossler T, Marschalek R. An alternative splice process renders the MLL protein either into a transcriptional activator or repressor. Pharmazie 68(7), 601-607 (2013).
-
(2013)
Pharmazie
, vol.68
, Issue.7
, pp. 601-607
-
-
Rossler, T.1
Marschalek, R.2
-
36
-
-
65649112466
-
Functional and evolutionary insights into human brain development through global transcriptome analysis
-
Johnson MB, Kawasawa YI, Mason CE et al. Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron 62(4), 494-509 (2009).
-
(2009)
Neuron
, vol.62
, Issue.4
, pp. 494-509
-
-
Johnson, M.B.1
Kawasawa, Y.I.2
Mason, C.E.3
-
37
-
-
63649125648
-
Chromatin remodelling factor Mll1 is essential for neurogenesis from postnatal neural stem cells
-
Lim DA, Huang YC, Swigut T et al. Chromatin remodelling factor Mll1 is essential for neurogenesis from postnatal neural stem cells. Nature 458(7237), 529-533 (2009).
-
(2009)
Nature
, vol.458
, Issue.7237
, pp. 529-533
-
-
Lim, D.A.1
Huang, Y.C.2
Swigut, T.3
-
38
-
-
71949107301
-
Global analysis of H3K4 methylation defines MLL family member targets and points to a role for MLL1-mediated H3K4 methylation in the regulation of transcriptional initiation by RNA polymerase II
-
Wang P, Lin C, Smith ER et al. Global analysis of H3K4 methylation defines MLL family member targets and points to a role for MLL1-mediated H3K4 methylation in the regulation of transcriptional initiation by RNA polymerase II. Mol. Cell. Biol. 29(22), 6074-6085 (2009).
-
(2009)
Mol. Cell. Biol.
, vol.29
, Issue.22
, pp. 6074-6085
-
-
Wang, P.1
Lin, C.2
Smith, E.R.3
-
39
-
-
84892683106
-
Mll2 is required for H3K4 trimethylation on bivalent promoters in embryonic stem cells, whereas Mll1 is redundant
-
Denissov S, Hofemeister H, Marks H et al. Mll2 is required for H3K4 trimethylation on bivalent promoters in embryonic stem cells, whereas Mll1 is redundant. Development 141(3), 526-537 (2014).
-
(2014)
Development
, vol.141
, Issue.3
, pp. 526-537
-
-
Denissov, S.1
Hofemeister, H.2
Marks, H.3
-
40
-
-
84891541640
-
H3K4 mono-and dimethyltransferase MLL4 is required for enhancer activation during cell differentiation
-
Lee JE, Wang CC, Xu SLY et al. H3K4 mono-and dimethyltransferase MLL4 is required for enhancer activation during cell differentiation. Elife 2, e01503 (2013).
-
(2013)
Elife
, vol.2
, pp. e01503
-
-
Lee, J.E.1
Wang, C.C.2
Xu, S.L.Y.3
-
41
-
-
84891711796
-
The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers
-
Hu DQ, Gao X, Morgan MA, Herz HM, Smith ER, Shilatifard A. The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers. Mol. Cell. Biol. 33(23), 4745-4754 (2013).
-
(2013)
Mol. Cell. Biol.
, vol.33
, Issue.23
, pp. 4745-4754
-
-
Hu, D.Q.1
Gao, X.2
Morgan, M.A.3
Herz, H.M.4
Smith, E.R.5
Shilatifard, A.6
-
42
-
-
0035231832
-
Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects
-
Tan YC, Chow VT. Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects. Cancer Detect. Prev. 25(5), 454-469 (2001).
-
(2001)
Cancer Detect. Prev.
, vol.25
, Issue.5
, pp. 454-469
-
-
Tan, Y.C.1
Chow, V.T.2
-
43
-
-
0037028488
-
MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia
-
Ruault M, Brun ME, Ventura M, Roizes G, De Sario A. MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia. Gene 284(1-2), 73-81 (2002).
-
(2002)
Gene
, vol.284
, Issue.1-2
, pp. 73-81
-
-
Ruault, M.1
Brun, M.E.2
Ventura, M.3
Roizes, G.4
De Sario, A.5
-
44
-
-
84863984610
-
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
-
Kleefstra T, Kramer JM, Neveling K et al. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am. J. Hum. Genet. 91(1), 73-82 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, Issue.1
, pp. 73-82
-
-
Kleefstra, T.1
Kramer, J.M.2
Neveling, K.3
-
45
-
-
0034724504
-
Prediction of the coding sequences of unidentified human genes XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
-
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7(2), 143-150 (2000).
-
(2000)
DNA Res.
, vol.7
, Issue.2
, pp. 143-150
-
-
Nagase, T.1
Kikuno, R.2
Ishikawa, K.3
Hirosawa, M.4
Ohara, O.5
-
46
-
-
84896374738
-
A role for H3K4 monomethylation in gene repression and partitioning of chromatin readers
-
Cheng J, Blum R, Bowman C et al. A role for H3K4 monomethylation in gene repression and partitioning of chromatin readers. Mol. Cell. 53(6), 979-992 (2014).
-
(2014)
Mol. Cell.
, vol.53
, Issue.6
, pp. 979-992
-
-
Cheng, J.1
Blum, R.2
Bowman, C.3
-
47
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42(9), 790-793 (2010).
-
(2010)
Nat. Genet.
, vol.42
, Issue.9
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
-
48
-
-
79551505871
-
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
-
Paulussen AD, Stegmann AP, Blok MJ et al. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum. Mutat. 32(2), E2018-E2025 (2011).
-
(2011)
Hum. Mutat.
, vol.32
, Issue.2
, pp. E2018-E2025
-
-
Paulussen, A.D.1
Stegmann, A.P.2
Blok, M.J.3
-
49
-
-
79958047953
-
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
-
Micale L, Augello B, Fusco C et al. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J. Rare Dis. 6, 38 (2011).
-
(2011)
Orphanet J. Rare Dis.
, vol.6
, pp. 38
-
-
Micale, L.1
Augello, B.2
Fusco, C.3
-
50
-
-
82555194140
-
A mutation screen in patients with Kabuki syndrome
-
Li Y, Bogershausen N, Alanay Y et al. A mutation screen in patients with Kabuki syndrome. Hum. Genet. 130(6), 715-724 (2011).
-
(2011)
Hum. Genet.
, vol.130
, Issue.6
, pp. 715-724
-
-
Li, Y.1
Bogershausen, N.2
Alanay, Y.3
-
51
-
-
79959532375
-
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
-
Hannibal MC, Buckingham KJ, Ng SB et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am. J. Med. Genet. A 155A(7), 1511-1516 (2011).
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, Issue.7
, pp. 1511-1516
-
-
Hannibal, M.C.1
Buckingham, K.J.2
Ng, S.B.3
-
52
-
-
84858342744
-
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
-
Banka S, Veeramachaneni R, Reardon W et al. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur. J. Hum. Genet. 20(4), 381-388 (2012).
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, Issue.4
, pp. 381-388
-
-
Banka, S.1
Veeramachaneni, R.2
Reardon, W.3
-
53
-
-
84874017593
-
Unmasking Kabuki syndrome
-
Bogershausen N, Wollnik B. Unmasking Kabuki syndrome. Clin. Genet. 83(3), 201-211 (2013).
-
(2013)
Clin. Genet.
, vol.83
, Issue.3
, pp. 201-211
-
-
Bogershausen, N.1
Wollnik, B.2
-
54
-
-
84874020927
-
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
-
Banka S, Howard E, Bunstone S et al. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. Clin. Genet. 83(5), 467-471 (2013).
-
(2013)
Clin. Genet.
, vol.83
, Issue.5
, pp. 467-471
-
-
Banka, S.1
Howard, E.2
Bunstone, S.3
-
55
-
-
84871568905
-
Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4
-
Dhar SS, Lee SH, Kan PY et al. Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4. Genes Dev. 26(24), 2749-2762 (2012).
-
(2012)
Genes Dev.
, vol.26
, Issue.24
, pp. 2749-2762
-
-
Dhar, S.S.1
Lee, S.H.2
Kan, P.Y.3
-
56
-
-
34547122520
-
PTIP associates with MLL3-and MLL4-containing histone H3 lysine 4 methyltransferase complex
-
Cho YW, Hong T, Hong S et al. PTIP associates with MLL3-and MLL4-containing histone H3 lysine 4 methyltransferase complex. J. Biol. Chem. 282(28), 20395-20406 (2007).
-
(2007)
J. Biol. Chem.
, vol.282
, Issue.28
, pp. 20395-20406
-
-
Cho, Y.W.1
Hong, T.2
Hong, S.3
-
57
-
-
29244438472
-
CpG-binding protein (CXXC finger protein 1) is a component of the mammalian set1 histone H3-Lys(4) methyltransferase complex, the analogue of the yeast Set1/COMPASS complex
-
Lee JH, Skalnik DG. CpG-binding protein (CXXC finger protein 1) is a component of the mammalian set1 histone H3-Lys(4) methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. J. Biol. Chem. 280(50), 41725-41731 (2005).
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.50
, pp. 41725-41731
-
-
Lee, J.H.1
Skalnik, D.G.2
-
58
-
-
57349124451
-
Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/ COMPASS
-
Wu M, Wang PF, Lee JS et al. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/ COMPASS. Mol. Cell. Biol. 28(24), 7337-7344 (2008).
-
(2008)
Mol. Cell. Biol.
, vol.28
, Issue.24
, pp. 7337-7344
-
-
Wu, M.1
Wang, P.F.2
Lee, J.S.3
-
59
-
-
79960643838
-
Drosophila Set1 is the major histone H3 lysine trimethyltransferase with role in transcription
-
Ardehali MB, Mei A, Zobeck KL, Caron M, Lis JT, Kusch T. Drosophila Set1 is the major histone H3 lysine trimethyltransferase with role in transcription. EMBO J. 30(14), 2817-2828 (2011).
-
(2011)
EMBO J.
, vol.30
, Issue.14
, pp. 2817-2828
-
-
Ardehali, M.B.1
Mei, A.2
Zobeck, K.L.3
Caron, M.4
Lis, J.T.5
Kusch, T.6
-
60
-
-
84855435681
-
DSet1 is the main H3K4 di-and tri-methyltransferase throughout Drosophila development
-
Hallson G, Hollebakken RE, Li T et al. dSet1 is the main H3K4 di-and tri-methyltransferase throughout Drosophila development. Genetics 190(1), 91-100 (2012).
-
(2012)
Genetics
, vol.190
, Issue.1
, pp. 91-100
-
-
Hallson, G.1
Hollebakken, R.E.2
Li, T.3
-
61
-
-
81855195123
-
The COMPASS family of H3K4 methylases in Drosophila
-
Mohan M, Herz HM, Smith ER et al. The COMPASS family of H3K4 methylases in Drosophila. Mol. Cell. Biol. 31(21), 4310-4318 (2011).
-
(2011)
Mol. Cell. Biol.
, vol.31
, Issue.21
, pp. 4310-4318
-
-
Mohan, M.1
Herz, H.M.2
Smith, E.R.3
-
62
-
-
84856068282
-
Charge-based interaction conserved within histone H3 lysine (H3K4) methyltransferase complexes is needed for protein stability, histone methylation, and gene expression
-
Mersman DP, Du HN, Fingerman IM, South PF, Briggs SD. Charge-based interaction conserved within histone H3 lysine (H3K4) methyltransferase complexes is needed for protein stability, histone methylation, and gene expression. J. Biol. Chem. 287(4), 2652-2665 (2012).
-
(2012)
J. Biol. Chem.
, vol.287
, Issue.4
, pp. 2652-2665
-
-
Mersman, D.P.1
Du, H.N.2
Fingerman, I.M.3
South, P.F.4
Briggs, S.D.5
-
63
-
-
84864752375
-
Cfp1 integrates both CpG content and gene activity for accurate H3K4me3 deposition in embryonic stem cells
-
Clouaire T, Webb S, Skene P et al. Cfp1 integrates both CpG content and gene activity for accurate H3K4me3 deposition in embryonic stem cells. Genes Dev. 26(15), 1714-1728 (2012).
-
(2012)
Genes Dev.
, vol.26
, Issue.15
, pp. 1714-1728
-
-
Clouaire, T.1
Webb, S.2
Skene, P.3
-
64
-
-
84964314573
-
Cfp1 is required for gene expression dependent H3K4me3 and H3K9 acetylation in embryonic stem cells
-
Clouaire T, Webb S, Bird A. Cfp1 is required for gene expression dependent H3K4me3 and H3K9 acetylation in embryonic stem cells. Genome Biol. 15(9), 451 (2014).
-
(2014)
Genome Biol.
, vol.15
, Issue.9
, pp. 451
-
-
Clouaire, T.1
Webb, S.2
Bird, A.3
-
65
-
-
84874763341
-
H3K4me3 interactions with TAF3 regulate preinitiation complex assembly and selective gene activation
-
Lauberth SM, Nakayama T, Wu X et al. H3K4me3 interactions with TAF3 regulate preinitiation complex assembly and selective gene activation. Cell 152(5), 1021-1036 (2013).
-
(2013)
Cell
, vol.152
, Issue.5
, pp. 1021-1036
-
-
Lauberth, S.M.1
Nakayama, T.2
Wu, X.3
-
66
-
-
34848911602
-
Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4
-
Vermeulen M, Mulder KW, Denissov S et al. Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4. Cell 131(1), 58-69 (2007).
-
(2007)
Cell
, vol.131
, Issue.1
, pp. 58-69
-
-
Vermeulen, M.1
Mulder, K.W.2
Denissov, S.3
-
67
-
-
11144332565
-
Histone demethylation mediated by the nuclear amine oxidase homolog LSD1
-
Shi Y, Matson C et al. Histone demethylation mediated by the nuclear amine oxidase homolog LSD1. Cell 119(7), 941-953 (2004).
-
(2004)
Cell
, vol.119
, Issue.7
, pp. 941-953
-
-
Shi, Y.1
Matson, C.2
-
68
-
-
80051664488
-
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
-
Sirmaci A, Spiliopoulos M, Brancati F et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am. J. Hum. Genet. 89(2), 289-294 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, Issue.2
, pp. 289-294
-
-
Sirmaci, A.1
Spiliopoulos, M.2
Brancati, F.3
-
69
-
-
34247348215
-
Opposing LSD1 complexes function in developmental gene activation and repression programmes
-
Wang JX, Scully K, Zhu X et al. Opposing LSD1 complexes function in developmental gene activation and repression programmes. Nature 446(7138), 882-887 (2007).
-
(2007)
Nature
, vol.446
, Issue.7138
, pp. 882-887
-
-
Wang, J.X.1
Scully, K.2
Zhu, X.3
-
70
-
-
58149156264
-
The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation
-
Wang J, Hevi S, Kurash JK et al. The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation. Nat. Genet. 41(1), 125-129 (2009).
-
(2009)
Nat. Genet.
, vol.41
, Issue.1
, pp. 125-129
-
-
Wang, J.1
Hevi, S.2
Kurash, J.K.3
-
71
-
-
84856962477
-
Enhancer decommissioning by LSD1 during embryonic stem cell differentiation
-
Whyte WA, Bilodeau S, Orlando DA et al. Enhancer decommissioning by LSD1 during embryonic stem cell differentiation. Nature 482(7384), 221-225 (2012).
-
(2012)
Nature
, vol.482
, Issue.7384
, pp. 221-225
-
-
Whyte, W.A.1
Bilodeau, S.2
Orlando, D.A.3
-
72
-
-
17944383136
-
Regulation of neuronal traits by a novel transcriptional complex
-
Ballas N, Battaglioli E, Atouf F et al. Regulation of neuronal traits by a novel transcriptional complex. Neuron 31(3), 353-365 (2001).
-
(2001)
Neuron
, vol.31
, Issue.3
, pp. 353-365
-
-
Ballas, N.1
Battaglioli, E.2
Atouf, F.3
-
73
-
-
0033578299
-
CoREST: A functional corepressor required for regulation of neuralspecific gene expression
-
USA
-
Andres ME, Burger C, Peral-Rubio MJ et al. CoREST: a functional corepressor required for regulation of neuralspecific gene expression. Proc. Natl Acad. Sci. USA 96(17), 9873-9878 (1999).
-
(1999)
Proc. Natl Acad. Sci.
, vol.96
, Issue.17
, pp. 9873-9878
-
-
Andres, M.E.1
Burger, C.2
Peral-Rubio, M.J.3
-
74
-
-
0037470142
-
A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes
-
Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R. A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. J. Biol. Chem. 278(9), 7234-7239 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, Issue.9
, pp. 7234-7239
-
-
Hakimi, M.A.1
Dong, Y.2
Lane, W.S.3
Speicher, D.W.4
Shiekhattar, R.5
-
75
-
-
77249142841
-
Alternative splicing of the histone demethylase LSD1/KDM1 contributes to the modulation of neurite morphogenesis in the mammalian nervous system
-
Zibetti C, Adamo A, Binda C et al. Alternative splicing of the histone demethylase LSD1/KDM1 contributes to the modulation of neurite morphogenesis in the mammalian nervous system. J. Neurosci. 30(7), 2521-2532 (2010).
-
(2010)
J. Neurosci.
, vol.30
, Issue.7
, pp. 2521-2532
-
-
Zibetti, C.1
Adamo, A.2
Binda, C.3
-
76
-
-
33846690407
-
Histone methylation-dependent mechanisms impose ligand dependency for gene activation by nuclear receptors
-
Garcia-Bassets I, Kwon YS, Telese F et al. Histone methylation-dependent mechanisms impose ligand dependency for gene activation by nuclear receptors. Cell 128(3), 505-518 (2007).
-
(2007)
Cell
, vol.128
, Issue.3
, pp. 505-518
-
-
Garcia-Bassets, I.1
Kwon, Y.S.2
Telese, F.3
-
77
-
-
33947302685
-
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine demethylases
-
Iwase S, Bayliss P et al. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine demethylases. Cell 128(6), 1077-1088 (2007).
-
(2007)
Cell
, vol.128
, Issue.6
, pp. 1077-1088
-
-
Iwase, S.1
Bayliss, P.2
-
78
-
-
33947244845
-
PLU-1 is an H3K4 demethylase involved in transcriptional repression and breast cancer cell proliferation
-
Yamane K, Tateishi K, Klose RJ et al. PLU-1 is an H3K4 demethylase involved in transcriptional repression and breast cancer cell proliferation. Mol. Cell. 25(6), 801-812 (2007).
-
(2007)
Mol. Cell.
, vol.25
, Issue.6
, pp. 801-812
-
-
Yamane, K.1
Tateishi, K.2
Klose, R.J.3
-
79
-
-
37649023563
-
JARID1B is a histone H3 lysine demethylase up-regulated in prostate cancer
-
USA
-
Xiang Y, Zhu Z, Han G et al. JARID1B is a histone H3 lysine demethylase up-regulated in prostate cancer. Proc. Natl Acad. Sci. USA 104(49), 19226-19231 (2007).
-
(2007)
Proc. Natl Acad. Sci.
, vol.104
, Issue.49
, pp. 19226-19231
-
-
Xiang, Y.1
Zhu, Z.2
Han, G.3
-
80
-
-
34250782620
-
RBP2 is an MRG15 complex component and down-regulates intragenic histone H3 lysine 4 methylation
-
Hayakawa T, Ohtani Y, Hayakawa N et al. RBP2 is an MRG15 complex component and down-regulates intragenic histone H3 lysine 4 methylation. Genes to Cells 12(6), 811-826 (2007).
-
(2007)
Genes to Cells
, vol.12
, Issue.6
, pp. 811-826
-
-
Hayakawa, T.1
Ohtani, Y.2
Hayakawa, N.3
-
81
-
-
33847401344
-
The retinoblastoma binding protein RBP2 is an H3K4 demethylase
-
Klose RJ, Yan Q, Tothova Z et al. The retinoblastoma binding protein RBP2 is an H3K4 demethylase. Cell 128(5), 889-900 (2007).
-
(2007)
Cell
, vol.128
, Issue.5
, pp. 889-900
-
-
Klose, R.J.1
Yan, Q.2
Tothova, Z.3
-
82
-
-
33947245128
-
RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine on histone 3
-
Christensen J, Agger K, Cloos PA et al. RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine on histone 3. Cell 128(6), 1063-1076 (2007).
-
(2007)
Cell
, vol.128
, Issue.6
, pp. 1063-1076
-
-
Christensen, J.1
Agger, K.2
Cloos, P.A.3
-
83
-
-
32844454603
-
Histone demethylation by a family of JmjC domain-containing proteins
-
Tsukada Y, Fang J, Erdjument-Bromage H et al. Histone demethylation by a family of JmjC domain-containing proteins. Nature 439(7078), 811-816 (2006).
-
(2006)
Nature
, vol.439
, Issue.7078
, pp. 811-816
-
-
Tsukada, Y.1
Fang, J.2
Erdjument-Bromage, H.3
-
84
-
-
0025808021
-
Cloning of cDNAs for cellular proteins that bind to the retinoblastoma geneproduct
-
Defeo-Jones D, Huang PS, Jones RE et al. Cloning of cDNAs for cellular proteins that bind to the retinoblastoma geneproduct. Nature 352(6332), 251-254 (1991).
-
(1991)
Nature
, vol.352
, Issue.6332
, pp. 251-254
-
-
Defeo-Jones, D.1
Huang, P.S.2
Jones, R.E.3
-
85
-
-
33646505724
-
Structural insights into histone demethylation by JMJD2 family members
-
Chen Z, Zang J, Whetstine J et al. Structural insights into histone demethylation by JMJD2 family members. Cell 125(4), 691-702 (2006).
-
(2006)
Cell
, vol.125
, Issue.4
, pp. 691-702
-
-
Chen, Z.1
Zang, J.2
Whetstine, J.3
-
86
-
-
49349114931
-
Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation
-
Lopez-Bigas N, Kisiel TA, Dewaal DC et al. Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation. Mol. Cell. 31(4), 520-530 (2008).
-
(2008)
Mol. Cell.
, vol.31
, Issue.4
, pp. 520-530
-
-
Lopez-Bigas, N.1
Kisiel, T.A.2
Dewaal, D.C.3
-
87
-
-
84906317253
-
Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development
-
Shao GB, Chen JC, Zhang LP et al. Dynamic patterns of histone H3 lysine 4 methyltransferases and demethylases during mouse preimplantation development. In vitro Cell. Dev. Biol. Anim. 50(7), 603-613 (2014).
-
(2014)
Vitro Cell. Dev. Biol. Anim.
, vol.50
, Issue.7
, pp. 603-613
-
-
Shao, G.B.1
Chen, J.C.2
Zhang, L.P.3
-
88
-
-
84861868041
-
H3K4 demethylation by Jarid1a and Jarid1b contributes to retinoblastoma-mediated gene silencing during cellular senescence
-
USA
-
Chicas A, Kapoor A, Wang X et al. H3K4 demethylation by Jarid1a and Jarid1b contributes to retinoblastoma-mediated gene silencing during cellular senescence. Proc. Natl Acad. Sci. USA 109(23), 8971-8976 (2012).
-
(2012)
Proc. Natl Acad. Sci.
, vol.109
, Issue.23
, pp. 8971-8976
-
-
Chicas, A.1
Kapoor, A.2
Wang, X.3
-
89
-
-
80053355301
-
Histone lysine demethylase JARID1a activates CLOCK-BMAL1 and influences the circadian clock
-
Ditacchio L, Le HD, Vollmers C et al. Histone lysine demethylase JARID1a activates CLOCK-BMAL1 and influences the circadian clock. Science 333(6051), 1881-1885 (2011).
-
(2011)
Science
, vol.333
, Issue.6051
, pp. 1881-1885
-
-
Ditacchio, L.1
Le, H.D.2
Vollmers, C.3
-
90
-
-
49349092791
-
The histone demethylase KDM5b/JARID1b plays a role in cell fate decisions by blocking terminal differentiation
-
Dey BK, Stalker L, Schnerch A, Bhatia M, Taylor-Papidimitriou J, Wynder C. The histone demethylase KDM5b/JARID1b plays a role in cell fate decisions by blocking terminal differentiation. Mol. Cell. Biol. 28(17), 5312-5327 (2008).
-
(2008)
Mol. Cell. Biol.
, vol.28
, Issue.17
, pp. 5312-5327
-
-
Dey, B.K.1
Stalker, L.2
Schnerch, A.3
Bhatia, M.4
Taylor-Papidimitriou, J.5
Wynder, C.6
-
91
-
-
81255160602
-
Jarid1b targets genes regulating development and is involved in neural differentiation
-
Schmitz SU, Albert M, Malatesta M et al. Jarid1b targets genes regulating development and is involved in neural differentiation. EMBO J. 30(22), 4586-4600 (2011).
-
(2011)
EMBO J.
, vol.30
, Issue.22
, pp. 4586-4600
-
-
Schmitz, S.U.1
Albert, M.2
Malatesta, M.3
-
92
-
-
84893194759
-
KDM5B focuses H3K4 methylation near promoters and enhancers during embryonic stem cell selfrenewal and differentiation
-
Kidder BL, Hu G, Zhao K. KDM5B focuses H3K4 methylation near promoters and enhancers during embryonic stem cell selfrenewal and differentiation. Genome Biol. 15(2), R32 (2014).
-
(2014)
Genome Biol.
, vol.15
, Issue.2
, pp. R32
-
-
Kidder, B.L.1
Hu, G.2
Zhao, K.3
-
93
-
-
79955019522
-
PLU-1/JARID1B/ KDM5B is required for embryonic survival and contributes to cell proliferation in the mammary gland and in ER+ breast cancer cells
-
Catchpole S, Spencer-Dene B, Hall D et al. PLU-1/JARID1B/ KDM5B is required for embryonic survival and contributes to cell proliferation in the mammary gland and in ER+ breast cancer cells. Int. J. Oncol. 38(5), 1267-1277 (2011).
-
(2011)
Int. J. Oncol.
, vol.38
, Issue.5
, pp. 1267-1277
-
-
Catchpole, S.1
Spencer-Dene, B.2
Hall, D.3
-
94
-
-
35148835080
-
Functional analysis of the transcription repressor PLU-1/JARID1B
-
Scibetta AG, Santangelo S, Coleman J et al. Functional analysis of the transcription repressor PLU-1/JARID1B. Mol. Cell. Biol. 27(20), 7220-7235 (2007).
-
(2007)
Mol. Cell. Biol.
, vol.27
, Issue.20
, pp. 7220-7235
-
-
Scibetta, A.G.1
Santangelo, S.2
Coleman, J.3
-
95
-
-
79955008193
-
KDM5B regulates embryonic stem cell self-renewal and represses cryptic intragenic transcription
-
Xie L, Pelz C, Wang W et al. KDM5B regulates embryonic stem cell self-renewal and represses cryptic intragenic transcription. EMBO J. 30(8), 1473-1484 (2011).
-
(2011)
EMBO J.
, vol.30
, Issue.8
, pp. 1473-1484
-
-
Xie, L.1
Pelz, C.2
Wang, W.3
-
96
-
-
84900513231
-
Histone demethylase KDM5B is a key regulator of genome stability
-
USA
-
Li X, Liu L, Yang S et al. Histone demethylase KDM5B is a key regulator of genome stability. Proc. Natl Acad. Sci. USA 111(19), 7096-7101 (2014).
-
(2014)
Proc. Natl Acad. Sci.
, vol.111
, Issue.19
, pp. 7096-7101
-
-
Li, X.1
Liu, L.2
Yang, S.3
-
97
-
-
19944430270
-
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
-
Jensen LR, Amende M, Gurok U et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am. J. Hum. Genet. 76(2), 227-236 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.76
, Issue.2
, pp. 227-236
-
-
Jensen, L.R.1
Amende, M.2
Gurok, U.3
-
98
-
-
84898492246
-
KDM5C mutational screening among males with intellectual disability suggestive of X-linked inheritance and review of the literature
-
Goncalves TF, Goncalves AP, Fintelman Rodrigues N, Dos Santos JM, Pimentel MM, Santos-Reboucas CB. KDM5C mutational screening among males with intellectual disability suggestive of X-linked inheritance and review of the literature. Eur. J. Med. Genet. 57(4), 138-144 (2014).
-
(2014)
Eur. J. Med. Genet.
, vol.57
, Issue.4
, pp. 138-144
-
-
Goncalves, T.F.1
Goncalves, A.P.2
Fintelman Rodrigues, N.3
Dos Santos, J.M.4
Pimentel, M.M.5
Santos-Reboucas, C.B.6
-
99
-
-
10644243538
-
X-linked mental retardation
-
Ropers HH, Hamel BC. X-linked mental retardation. Nat. Rev. Genet. 6(1), 46-57 (2005).
-
(2005)
Nat. Rev. Genet.
, vol.6
, Issue.1
, pp. 46-57
-
-
Ropers, H.H.1
Hamel, B.C.2
-
100
-
-
34249900454
-
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
-
Tahiliani M, Mei PC, Fang R et al. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature 447(7144), 601-605 (2007).
-
(2007)
Nature
, vol.447
, Issue.7144
, pp. 601-605
-
-
Tahiliani, M.1
Mei, P.C.2
Fang, R.3
-
101
-
-
33646532555
-
Novel JARID1C/ SMCX mutations in patients with X-linked mental retardation
-
Tzschach A, Lenzner S, Moser B et al. Novel JARID1C/ SMCX mutations in patients with X-linked mental retardation. Hum. Mutat. 27(4), 389 (2006).
-
(2006)
Hum. Mutat.
, vol.27
, Issue.4
, pp. 389
-
-
Tzschach, A.1
Lenzner, S.2
Moser, B.3
-
102
-
-
38849159213
-
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)
-
Adegbola A, Gao H, Sommer S, Browning M. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). Am. J. Med. Genet. A 146A(4), 505-511 (2008).
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, Issue.4
, pp. 505-511
-
-
Adegbola, A.1
Gao, H.2
Sommer, S.3
Browning, M.4
-
103
-
-
84860278801
-
Short-term memory deficits in carrier females with KDM5C mutations
-
Simensen RJ, Rogers RC, Collins JS, Abidi F, Schwartz CE, Stevenson RE. Short-term memory deficits in carrier females with KDM5C mutations. Genet. Couns. 23(1), 31-40 (2012).
-
(2012)
Genet. Couns.
, vol.23
, Issue.1
, pp. 31-40
-
-
Simensen, R.J.1
Rogers, R.C.2
Collins, J.S.3
Abidi, F.4
Schwartz, C.E.5
Stevenson, R.E.6
-
104
-
-
0028239599
-
A mouse Y-chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens
-
Agulnik AI, Mitchell MJ, Lerner JL, Woods DR, Bishop CE. A mouse Y-chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens. Hum. Molec. Genet. 3(6), 873-878 (1994).
-
(1994)
Hum. Molec. Genet.
, vol.3
, Issue.6
, pp. 873-878
-
-
Agulnik, A.I.1
Mitchell, M.J.2
Lerner, J.L.3
Woods, D.R.4
Bishop, C.E.5
-
105
-
-
16144367702
-
Gene sequence and evolutionary conservation of human SMCY
-
Kent-First MG, Maffitt M, Muallem A et al. Gene sequence and evolutionary conservation of human SMCY. Nat. Genet. 14(2), 128-129 (1996).
-
(1996)
Nat. Genet.
, vol.14
, Issue.2
, pp. 128-129
-
-
Kent-First, M.G.1
Maffitt, M.2
Muallem, A.3
-
106
-
-
71749101705
-
Sex differences in sex chromosome gene expression in mouse brain
-
Xu J, Burgoyne PS, Arnold AP. Sex differences in sex chromosome gene expression in mouse brain. Hum. Mol. Genet. 11(12), 1409-1419 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, Issue.12
, pp. 1409-1419
-
-
Xu, J.1
Burgoyne, P.S.2
Arnold, A.P.3
-
107
-
-
84902243222
-
Methamphetamine-associated memory is regulated by a writer and an eraser of permissive histone methylation
-
Aguilar-Valles A, Vaissiere T, Griggs EM et al. Methamphetamine-associated memory is regulated by a writer and an eraser of permissive histone methylation. Biol. Psychiatry 76(1), 57-65 (2014).
-
(2014)
Biol. Psychiatry
, vol.76
, Issue.1
, pp. 57-65
-
-
Aguilar-Valles, A.1
Vaissiere, T.2
Griggs, E.M.3
-
108
-
-
49749114829
-
Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain
-
Xu J, Deng X, Disteche CM. Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain. PLoS ONE 3(7), e2553 (2008).
-
(2008)
PLoS ONE
, vol.3
, Issue.7
, pp. e2553
-
-
Xu, J.1
Deng, X.2
Disteche, C.M.3
-
109
-
-
84872292675
-
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
-
Poeta L, Fusco F, Drongitis D et al. A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. Am. J. Hum. Genet. 92(1), 114-125 (2013).
-
(2013)
Am. J. Hum. Genet.
, vol.92
, Issue.1
, pp. 114-125
-
-
Poeta, L.1
Fusco, F.2
Drongitis, D.3
-
110
-
-
84876991088
-
Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function
-
Outchkourov NS, Muino JM, Kaufmann K et al. Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function. Cell. Rep. 3(4), 1071-1079 (2013).
-
(2013)
Cell. Rep.
, vol.3
, Issue.4
, pp. 1071-1079
-
-
Outchkourov, N.S.1
Muino, J.M.2
Kaufmann, K.3
-
111
-
-
77953383178
-
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
-
Jensen LR, Bartenschlager H, Rujirabanjerd S et al. A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. Pathogenetics 3(1), 2 (2010).
-
(2010)
Pathogenetics
, vol.3
, Issue.1
, pp. 2
-
-
Jensen, L.R.1
Bartenschlager, H.2
Rujirabanjerd, S.3
-
112
-
-
0027394225
-
Familial interstitial deletion 11(p11
-
Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F. Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am. J. Med. Genet. 45(5), 581-583 (1993).
-
(1993)
12p12) Associated with Parietal Foramina, Brachymicrocephaly, and Mental Retardation. Am. J. Med. Genet.
, vol.45
, Issue.5
, pp. 581-583
-
-
Shaffer, L.G.1
Hecht, J.T.2
Ledbetter, D.H.3
Greenberg, F.4
-
113
-
-
0029878404
-
Interstitial deletion of 11(p11 2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)
-
Potocki L, Shaffer LG. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am. J. Med. Genet. 62(3), 319-325 (1996).
-
(1996)
Am. J. Med. Genet.
, vol.62
, Issue.3
, pp. 319-325
-
-
Potocki, L.1
Shaffer, L.G.2
-
114
-
-
6044250386
-
Characterization of BHC80 in BRAF-HDAC complex, involved in neuronspecific gene repression
-
Iwase S, Januma A, Miyamoto K et al. Characterization of BHC80 in BRAF-HDAC complex, involved in neuronspecific gene repression. Biochem. Biophys. Res. Commun. 322(2), 601-608 (2004).
-
(2004)
Biochem. Biophys. Res. Commun.
, vol.322
, Issue.2
, pp. 601-608
-
-
Iwase, S.1
Januma, A.2
Miyamoto, K.3
-
115
-
-
33646538107
-
A component of BRAFHDAC complex, BHC80, is required for neonatal survival in mice
-
Iwase S, Shono N, Honda A et al. A component of BRAFHDAC complex, BHC80, is required for neonatal survival in mice. FEBS Lett. 580(13), 3129-3135 (2006).
-
(2006)
FEBS Lett.
, vol.580
, Issue.13
, pp. 3129-3135
-
-
Iwase, S.1
Shono, N.2
Honda, A.3
-
116
-
-
66049101352
-
The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex
-
Klajn A, Ferrai C, Stucchi L et al. The rest repression of the neurosecretory phenotype is negatively modulated by BHC80, a protein of the BRAF/HDAC complex. J. Neurosci. 29(19), 6296-6307 (2009).
-
(2009)
J. Neurosci.
, vol.29
, Issue.19
, pp. 6296-6307
-
-
Klajn, A.1
Ferrai, C.2
Stucchi, L.3
-
117
-
-
0037188526
-
A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes
-
USA
-
Hakimi MA, Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R. A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes. Proc. Natl Acad. Sci. USA 99(11), 7420-7425 (2002).
-
(2002)
Proc. Natl Acad. Sci.
, vol.99
, Issue.11
, pp. 7420-7425
-
-
Hakimi, M.A.1
Bochar, D.A.2
Chenoweth, J.3
Lane, W.S.4
Mandel, G.5
Shiekhattar, R.6
-
118
-
-
24944535335
-
Regulation of LSD1 histone demethylase activity by its associated factors
-
Shi YJ, Matson C, Iwase S, Baba T, Shi Y. Regulation of LSD1 histone demethylase activity by its associated factors. Mol. Cell. 19(6), 857-864 (2005).
-
(2005)
Mol. Cell.
, vol.19
, Issue.6
, pp. 857-864
-
-
Shi, Y.J.1
Matson, C.2
Iwase, S.3
Baba, T.4
Shi, Y.5
-
119
-
-
0033066271
-
X-linked mental retardation associated with cleft lip palate maps to Xp11 3-q21.3
-
Siderius LE, Hamel BCJ, Van Bokhoven H et al. X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3. Am. J. Med. Genet. 85(3), 216-220 (1999).
-
(1999)
Am. J. Med. Genet.
, vol.85
, Issue.3
, pp. 216-220
-
-
Siderius, L.E.1
Hamel, B.C.J.2
Van Bokhoven, H.3
-
120
-
-
34547862845
-
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate
-
Koivisto AM, Ala-Mello S, Lemmela S, Komu HA, Rautio J, Jarvela I. Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. Clin. Genet. 72(2), 145-149 (2007).
-
(2007)
Clin. Genet.
, vol.72
, Issue.2
, pp. 145-149
-
-
Koivisto, A.M.1
Ala-Mello, S.2
Lemmela, S.3
Komu, H.A.4
Rautio, J.5
Jarvela, I.6
-
121
-
-
34347341762
-
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
-
Abidi FE, Miano MG, Murray JC, Schwartz CE. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin. Genet. 72(1), 19-22 (2007).
-
(2007)
Clin. Genet.
, vol.72
, Issue.1
, pp. 19-22
-
-
Abidi, F.E.1
Miano, M.G.2
Murray, J.C.3
Schwartz, C.E.4
-
122
-
-
47149108541
-
Autism-associated familial microdeletion of Xp11
-
Qiao Y, Liu X, Harvard C et al. Autism-associated familial microdeletion of Xp11.22. Clin. Genet. 74(2), 134-144 (2008).
-
(2008)
22. Clin. Genet.
, vol.74
, Issue.2
, pp. 134-144
-
-
Qiao, Y.1
Liu, X.2
Harvard, C.3
-
123
-
-
77954957901
-
Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development
-
Qi HH, Sarkissian M, Hu GQ et al. Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. Nature 466(7305), 503-507 (2010).
-
(2010)
Nature
, vol.466
, Issue.7305
, pp. 503-507
-
-
Qi, H.H.1
Sarkissian, M.2
Hu, G.Q.3
-
124
-
-
77949432014
-
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase
-
Loenarz C, Ge W, Coleman ML et al. PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. Hum. Mol. Genet. 19(2), 217-222 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
, Issue.2
, pp. 217-222
-
-
Loenarz, C.1
Ge, W.2
Coleman, M.L.3
-
125
-
-
77953449792
-
PHF8 targets histone methylation and RNA polymerase II to activate transcription
-
Fortschegger K, De Graaf P, Outchkourov NS, Van Schaik FM, Timmers HT, Shiekhattar R. PHF8 targets histone methylation and RNA polymerase II to activate transcription. Mol. Cell. Biol. 30(13), 3286-3298 (2010).
-
(2010)
Mol. Cell. Biol.
, vol.30
, Issue.13
, pp. 3286-3298
-
-
Fortschegger, K.1
De Graaf, P.2
Outchkourov, N.S.3
Van Schaik, F.M.4
Timmers, H.T.5
Shiekhattar, R.6
-
126
-
-
77950521594
-
PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation
-
Feng WJ, Yonezawa M, Ye J, Jenuwein T, Grummt I. PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation. Nat. Struct. Mol. Biol. 17(4), 445-U483 (2010).
-
(2010)
Nat. Struct. Mol. Biol.
, vol.17
, Issue.4
, pp. 445-U483
-
-
Feng, W.J.1
Yonezawa, M.2
Ye, J.3
Jenuwein, T.4
Grummt, I.5
-
127
-
-
77950893589
-
A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation
-
Kleine-Kohlbrecher D, Christensen J, Vandamme J et al. A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol. Cell. 38(2), 165-178 (2010).
-
(2010)
Mol. Cell.
, vol.38
, Issue.2
, pp. 165-178
-
-
Kleine-Kohlbrecher, D.1
Christensen, J.2
Vandamme, J.3
-
128
-
-
77955280094
-
The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation
-
Qiu JH, Shi GA, Jia YH et al. The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation. Cell Res. 20(8), 908-918 (2010).
-
(2010)
Cell Res.
, vol.20
, Issue.8
, pp. 908-918
-
-
Qiu, J.H.1
Shi, G.A.2
Jia, Y.H.3
-
129
-
-
77449127237
-
Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylases
-
Horton JR, Upadhyay AK, Qi HH, Zhang X, Shi Y, Cheng XD. Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylases. Nat. Struct. Mol. Biol. 17(1), U38-U52 (2010).
-
(2010)
Nat. Struct. Mol. Biol.
, vol.17
, Issue.1
, pp. U38-U52
-
-
Horton, J.R.1
Upadhyay, A.K.2
Qi, H.H.3
Zhang, X.4
Shi, Y.5
Cheng, X.D.6
-
130
-
-
84868156972
-
The histone demethylase PHF8 is essential for cytoskeleton dynamics
-
Asensio-Juan E, Gallego C, Martinez-Balbas MA. The histone demethylase PHF8 is essential for cytoskeleton dynamics. Nucleic Acids Res. 40(19), 9429-9440 (2012).
-
(2012)
Nucleic Acids Res.
, vol.40
, Issue.19
, pp. 9429-9440
-
-
Asensio-Juan, E.1
Gallego, C.2
Martinez-Balbas, M.A.3
-
131
-
-
31444436983
-
Mechanisms of ventral patterning in the vertebrate nervous system
-
Lupo G, Harris WA, Lewis KE. Mechanisms of ventral patterning in the vertebrate nervous system. Nat. Rev. Neurosci. 7(2), 103-114 (2006).
-
(2006)
Nat. Rev. Neurosci.
, vol.7
, Issue.2
, pp. 103-114
-
-
Lupo, G.1
Harris, W.A.2
Lewis, K.E.3
-
132
-
-
70350439585
-
Notch activity in the nervous system: To switch or not switch
-
Cau E, Blader P. Notch activity in the nervous system: to switch or not switch? Neural Dev. 4, 36 (2009).
-
(2009)
Neural Dev
, vol.4
, pp. 36
-
-
Cau, E.1
Blader, P.2
-
133
-
-
77954572735
-
Long noncoding RNA as modular scaffold of histone modification complexes
-
Tsai MC, Manor O, Wan Y et al. Long noncoding RNA as modular scaffold of histone modification complexes. Science 329(5992), 689-693 (2010).
-
(2010)
Science
, vol.329
, Issue.5992
, pp. 689-693
-
-
Tsai, M.C.1
Manor, O.2
Wan, Y.3
-
134
-
-
79953748673
-
A long noncoding RNA maintains active chromatin to coordinate homeotic gene expression
-
Wang KC, Yang YW, Liu B et al. A long noncoding RNA maintains active chromatin to coordinate homeotic gene expression. Nature 472(7341), 120-124 (2011).
-
(2011)
Nature
, vol.472
, Issue.7341
, pp. 120-124
-
-
Wang, K.C.1
Yang, Y.W.2
Liu, B.3
-
135
-
-
84898723075
-
Essential role of lncRNA binding for WDR5 maintenance of active chromatin and embryonic stem cell pluripotency
-
Yang YW, Flynn RA, Chen Y et al. Essential role of lncRNA binding for WDR5 maintenance of active chromatin and embryonic stem cell pluripotency. Elife 3, e02046 (2014).
-
(2014)
Elife
, vol.3
, pp. e02046
-
-
Yang, Y.W.1
Flynn, R.A.2
Chen, Y.3
-
136
-
-
84870260582
-
Human-specific histone methylation signatures at transcription start sites in prefrontal neurons
-
Shulha HP, Crisci JL, Reshetov D et al. Human-specific histone methylation signatures at transcription start sites in prefrontal neurons. PLoS Biol. 10(11), e1001427 (2012).
-
(2012)
PLoS Biol.
, vol.10
, Issue.11
, pp. e1001427
-
-
Shulha, H.P.1
Crisci, J.L.2
Reshetov, D.3
-
137
-
-
84895422951
-
Human-specific CpG 'beacons' identify human-specific prefrontal cortex H3K4me3 chromatin peaks
-
Bell CG, Wilson GA, Beck S. Human-specific CpG 'beacons' identify human-specific prefrontal cortex H3K4me3 chromatin peaks. Epigenomics 6(1), 21-31 (2014).
-
(2014)
Epigenomics
, vol.6
, Issue.1
, pp. 21-31
-
-
Bell, C.G.1
Wilson, G.A.2
Beck, S.3
-
138
-
-
77949357100
-
Histone methylation regulates memory formation
-
Gupta S, Kim SY, Artis S et al. Histone methylation regulates memory formation. J. Neurosci. 30(10), 3589-3599 (2010).
-
(2010)
J. Neurosci.
, vol.30
, Issue.10
, pp. 3589-3599
-
-
Gupta, S.1
Kim, S.Y.2
Artis, S.3
-
139
-
-
84874197424
-
Histonemethyltransferase MLL2 (KMT2B) is required for memory formation in mice
-
Kerimoglu C, Agis-Balboa RC, Kranz A et al. Histonemethyltransferase MLL2 (KMT2B) is required for memory formation in mice. J. Neurosci. 33(8), 3452-3464 (2013).
-
(2013)
J. Neurosci.
, vol.33
, Issue.8
, pp. 3452-3464
-
-
Kerimoglu, C.1
Agis-Balboa, R.C.2
Kranz, A.3
-
140
-
-
84892841527
-
Targeting MLL1 H3K4 methyltransferase activity in mixed-lineage leukemia
-
Cao F, Townsend EC, Karatas H et al. Targeting MLL1 H3K4 methyltransferase activity in mixed-lineage leukemia. Mol. Cell. 53(2), 247-261 (2014).
-
(2014)
Mol. Cell.
, vol.53
, Issue.2
, pp. 247-261
-
-
Cao, F.1
Townsend, E.C.2
Karatas, H.3
-
141
-
-
84857195696
-
Menin-MLL inhibitors reverse oncogenic activity of MLL fusion proteins in leukemia
-
Grembecka J, He S, Shi A et al. Menin-MLL inhibitors reverse oncogenic activity of MLL fusion proteins in leukemia. Nat. Chem. Biol. 8(3), 277-284 (2012).
-
(2012)
Nat. Chem. Biol.
, vol.8
, Issue.3
, pp. 277-284
-
-
Grembecka, J.1
He, S.2
Shi, A.3
-
142
-
-
84886808679
-
Chromatin proteins and modifications as drug targets
-
Helin K, Dhanak D. Chromatin proteins and modifications as drug targets. Nature 502(7472), 480-488 (2013).
-
(2013)
Nature
, vol.502
, Issue.7472
, pp. 480-488
-
-
Helin, K.1
Dhanak, D.2
|