-
1
-
-
57349176997
-
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
-
Abidi F.E., Holloway L., Moore C.A., Weaver D.D., Simensen R.J., Stevenson R.E., Rogers R.C., Schwartz C.E. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J. Med. Genet. 2008, 45:787-793.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 787-793
-
-
Abidi, F.E.1
Holloway, L.2
Moore, C.A.3
Weaver, D.D.4
Simensen, R.J.5
Stevenson, R.E.6
Rogers, R.C.7
Schwartz, C.E.8
-
2
-
-
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. 2008, 146A:505-511.
-
(2008)
Am. J. Med. Genet. A.
, vol.146A
, pp. 505-511
-
-
Adegbola, A.1
Gao, H.2
Sommer, S.3
Browning, M.4
-
3
-
-
84948567835
-
Sequencing of first-strand cDNA library reveals full-length transcriptomes
-
Agarwal S., Macfarlan T.S., Sartor M.A., Iwase S. Sequencing of first-strand cDNA library reveals full-length transcriptomes. Nat. Commun. 2015, 6:6002.
-
(2015)
Nat. Commun.
, vol.6
, pp. 6002
-
-
Agarwal, S.1
Macfarlan, T.S.2
Sartor, M.A.3
Iwase, S.4
-
4
-
-
58149178561
-
AutDB: a gene reference resource for autism research
-
Basu S.N., Kollu R., Banerjee-Basu S. AutDB: a gene reference resource for autism research. Nucleic Acids Res. 2009, 37:D832-D836.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. D832-D836
-
-
Basu, S.N.1
Kollu, R.2
Banerjee-Basu, S.3
-
5
-
-
84908377130
-
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome
-
256ra135
-
Bjornsson H.T., Benjamin J.S., Zhang L., Weissman J., Gerber E.E., Chen Y.C., Vaurio R.G., Potter M.C., Hansen K.D., Dietz H.C. Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome. Sci. Transl. Med. 2014, 6:256ra135.
-
(2014)
Sci. Transl. Med.
, vol.6
-
-
Bjornsson, H.T.1
Benjamin, J.S.2
Zhang, L.3
Weissman, J.4
Gerber, E.E.5
Chen, Y.C.6
Vaurio, R.G.7
Potter, M.C.8
Hansen, K.D.9
Dietz, H.C.10
-
6
-
-
0027226219
-
Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination
-
Brewer G.J., Torricelli J.R., Evege E.K., Price P.J. Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination. J. Neurosci. Res. 1993, 35:567-576.
-
(1993)
J. Neurosci. Res.
, vol.35
, pp. 567-576
-
-
Brewer, G.J.1
Torricelli, J.R.2
Evege, E.K.3
Price, P.J.4
-
7
-
-
84929736083
-
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
-
Brookes E., Laurent B., Õunap K., Carroll R., Moeschler J.B., Field M., Schwartz C.E., Gecz J., Shi Y. Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. Hum. Mol. Genet. 2015, 24:2861-2872.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 2861-2872
-
-
Brookes, E.1
Laurent, B.2
Õunap, K.3
Carroll, R.4
Moeschler, J.B.5
Field, M.6
Schwartz, C.E.7
Gecz, J.8
Shi, Y.9
-
8
-
-
84891753483
-
The Reactome pathway knowledgebase
-
Croft D., Mundo A.F., Haw R., Milacic M., Weiser J., Wu G., Caudy M., Garapati P., Gillespie M., Kamdar M.R., et al. The Reactome pathway knowledgebase. Nucleic Acids Res. 2014, 42:D472-D477.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D472-D477
-
-
Croft, D.1
Mundo, A.F.2
Haw, R.3
Milacic, M.4
Weiser, J.5
Wu, G.6
Caudy, M.7
Garapati, P.8
Gillespie, M.9
Kamdar, M.R.10
-
10
-
-
79956330964
-
CpG islands and the regulation of transcription
-
Deaton A.M., Bird A. CpG islands and the regulation of transcription. Genes Dev. 2011, 25:1010-1022.
-
(2011)
Genes Dev.
, vol.25
, pp. 1010-1022
-
-
Deaton, A.M.1
Bird, A.2
-
11
-
-
84893919352
-
De novo mutations in schizophrenia implicate synaptic networks
-
Fromer M., Pocklington A.J., Kavanagh D.H., Williams H.J., Dwyer S., Gormley P., Georgieva L., Rees E., Palta P., Ruderfer D.M., et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 2014, 506:179-184.
-
(2014)
Nature
, vol.506
, pp. 179-184
-
-
Fromer, M.1
Pocklington, A.J.2
Kavanagh, D.H.3
Williams, H.J.4
Dwyer, S.5
Gormley, P.6
Georgieva, L.7
Rees, E.8
Palta, P.9
Ruderfer, D.M.10
-
12
-
-
85083614710
-
Intellectual Disability Gene Database
-
University of Colorado Denver, IDDRC.
-
Gardiner, K. (2015). Intellectual Disability Gene Database. University of Colorado Denver, IDDRC. http://gfuncpathdb.ucdenver.edu/iddrc/iddrc/home.php.
-
(2015)
-
-
Gardiner, K.1
-
13
-
-
84898492246
-
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
-
Gonçalves T.F., Gonçalves A.P., Fintelman Rodrigues N., dos Santos J.M., Pimentel M.M., Santos-Rebouças C.B. KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. Eur. J. Med. Genet. 2014, 57:138-144.
-
(2014)
Eur. J. Med. Genet.
, vol.57
, pp. 138-144
-
-
Gonçalves, T.F.1
Gonçalves, A.P.2
Fintelman Rodrigues, N.3
dos Santos, J.M.4
Pimentel, M.M.5
Santos-Rebouças, C.B.6
-
15
-
-
33947302685
-
The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases
-
Iwase S., Lan F., Bayliss P., de la Torre-Ubieta L., Huarte M., Qi H.H., Whetstine J.R., Bonni A., Roberts T.M., Shi Y. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell 2007, 128:1077-1088.
-
(2007)
Cell
, vol.128
, pp. 1077-1088
-
-
Iwase, S.1
Lan, F.2
Bayliss, P.3
de la Torre-Ubieta, L.4
Huarte, M.5
Qi, H.H.6
Whetstine, J.R.7
Bonni, A.8
Roberts, T.M.9
Shi, Y.10
-
16
-
-
19944430270
-
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
-
Jensen L.R., Amende M., Gurok U., Moser B., Gimmel V., Tzschach A., Janecke A.R., Tariverdian G., Chelly J., Fryns J.P., 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. 2005, 76:227-236.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 227-236
-
-
Jensen, L.R.1
Amende, M.2
Gurok, U.3
Moser, B.4
Gimmel, V.5
Tzschach, A.6
Janecke, A.R.7
Tariverdian, G.8
Chelly, J.9
Fryns, J.P.10
-
17
-
-
70350445957
-
Androgen-responsive gene database: integrated knowledge on androgen-responsive genes
-
Jiang M., Ma Y., Chen C., Fu X., Yang S., Li X., Yu G., Mao Y., Xie Y., Li Y. Androgen-responsive gene database: integrated knowledge on androgen-responsive genes. Mol. Endocrinol. 2009, 23:1927-1933.
-
(2009)
Mol. Endocrinol.
, vol.23
, pp. 1927-1933
-
-
Jiang, M.1
Ma, Y.2
Chen, C.3
Fu, X.4
Yang, S.5
Li, X.6
Yu, G.7
Mao, Y.8
Xie, Y.9
Li, Y.10
-
18
-
-
84866908944
-
LRpath analysis reveals common pathways dysregulated via DNA methylation across cancer types
-
Kim J.H., Karnovsky A., Mahavisno V., Weymouth T., Pande M., Dolinoy D.C., Rozek L.S., Sartor M.A. LRpath analysis reveals common pathways dysregulated via DNA methylation across cancer types. BMC Genomics 2012, 13:526.
-
(2012)
BMC Genomics
, vol.13
, pp. 526
-
-
Kim, J.H.1
Karnovsky, A.2
Mahavisno, V.3
Weymouth, T.4
Pande, M.5
Dolinoy, D.C.6
Rozek, L.S.7
Sartor, M.A.8
-
19
-
-
33847076849
-
Chromatin modifications and their function
-
Kouzarides T. Chromatin modifications and their function. Cell 2007, 128:693-705.
-
(2007)
Cell
, vol.128
, pp. 693-705
-
-
Kouzarides, T.1
-
20
-
-
84884289864
-
Stress, anxiety, and dendritic spines: what are the connections?
-
Leuner B., Shors T.J. Stress, anxiety, and dendritic spines: what are the connections?. Neuroscience 2013, 251:108-119.
-
(2013)
Neuroscience
, vol.251
, pp. 108-119
-
-
Leuner, B.1
Shors, T.J.2
-
21
-
-
79952770440
-
Cilia in the CNS: the quiet organelle claims center stage
-
Louvi A., Grove E.A. Cilia in the CNS: the quiet organelle claims center stage. Neuron 2011, 69:1046-1060.
-
(2011)
Neuron
, vol.69
, pp. 1046-1060
-
-
Louvi, A.1
Grove, E.A.2
-
22
-
-
1842411320
-
Crystal structure of the nucleosome core particle at 2.8 A resolution
-
Luger K., Mäder A.W., Richmond R.K., Sargent D.F., Richmond T.J. Crystal structure of the nucleosome core particle at 2.8 A resolution. Nature 1997, 389:251-260.
-
(1997)
Nature
, vol.389
, pp. 251-260
-
-
Luger, K.1
Mäder, A.W.2
Richmond, R.K.3
Sargent, D.F.4
Richmond, T.J.5
-
23
-
-
43049152845
-
Poised RNA polymerase II gives pause for thought
-
Margaritis T., Holstege F.C. Poised RNA polymerase II gives pause for thought. Cell 2008, 133:581-584.
-
(2008)
Cell
, vol.133
, pp. 581-584
-
-
Margaritis, T.1
Holstege, F.C.2
-
24
-
-
84938557247
-
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
-
McMichael G., Bainbridge M.N., Haan E., Corbett M., Gardner A., Thompson S., van Bon B.W., van Eyk C.L., Broadbent J., Reynolds C., et al. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol. Psychiatry 2015, 20:176-182.
-
(2015)
Mol. Psychiatry
, vol.20
, pp. 176-182
-
-
McMichael, G.1
Bainbridge, M.N.2
Haan, E.3
Corbett, M.4
Gardner, A.5
Thompson, S.6
van Bon, B.W.7
van Eyk, C.L.8
Broadbent, J.9
Reynolds, C.10
-
25
-
-
84865708757
-
An expansive human regulatory lexicon encoded in transcription factor footprints
-
Neph S., Vierstra J., Stergachis A.B., Reynolds A.P., Haugen E., Vernot B., Thurman R.E., John S., Sandstrom R., Johnson A.K., et al. An expansive human regulatory lexicon encoded in transcription factor footprints. Nature 2012, 489:83-90.
-
(2012)
Nature
, vol.489
, pp. 83-90
-
-
Neph, S.1
Vierstra, J.2
Stergachis, A.B.3
Reynolds, A.P.4
Haugen, E.5
Vernot, B.6
Thurman, R.E.7
John, S.8
Sandstrom, R.9
Johnson, A.K.10
-
26
-
-
84898645098
-
Epigenetic mechanisms of depression
-
Nestler E.J. Epigenetic mechanisms of depression. JAMA Psychiatry 2014, 71:454-456.
-
(2014)
JAMA Psychiatry
, vol.71
, pp. 454-456
-
-
Nestler, E.J.1
-
27
-
-
0033018277
-
Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism
-
Oike Y., Hata A., Mamiya T., Kaname T., Noda Y., Suzuki M., Yasue H., Nabeshima T., Araki K., Yamamura K. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum. Mol. Genet. 1999, 8:387-396.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 387-396
-
-
Oike, Y.1
Hata, A.2
Mamiya, T.3
Kaname, T.4
Noda, Y.5
Suzuki, M.6
Yasue, H.7
Nabeshima, T.8
Araki, K.9
Yamamura, K.10
-
28
-
-
84876991088
-
Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function
-
Outchkourov N.S., Muiño J.M., Kaufmann K., van Ijcken W.F., Groot Koerkamp M.J., van Leenen D., de Graaf P., Holstege F.C., Grosveld F.G., Timmers H.T. Balancing of histone H3K4 methylation states by the Kdm5c/SMCX histone demethylase modulates promoter and enhancer function. Cell Rep. 2013, 3:1071-1079.
-
(2013)
Cell Rep.
, vol.3
, pp. 1071-1079
-
-
Outchkourov, N.S.1
Muiño, J.M.2
Kaufmann, K.3
van Ijcken, W.F.4
Groot Koerkamp, M.J.5
van Leenen, D.6
de Graaf, P.7
Holstege, F.C.8
Grosveld, F.G.9
Timmers, H.T.10
-
29
-
-
79951960867
-
Dendritic spine pathology in neuropsychiatric disorders
-
Penzes P., Cahill M.E., Jones K.A., VanLeeuwen J.E., Woolfrey K.M. Dendritic spine pathology in neuropsychiatric disorders. Nat. Neurosci. 2011, 14:285-293.
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 285-293
-
-
Penzes, P.1
Cahill, M.E.2
Jones, K.A.3
VanLeeuwen, J.E.4
Woolfrey, K.M.5
-
30
-
-
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., Shoubridge C., Manganelli G., Filosa S., Paciolla M., Courtney M., Collombat P., Lioi M.B., 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. 2013, 92:114-125.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 114-125
-
-
Poeta, L.1
Fusco, F.2
Drongitis, D.3
Shoubridge, C.4
Manganelli, G.5
Filosa, S.6
Paciolla, M.7
Courtney, M.8
Collombat, P.9
Lioi, M.B.10
-
32
-
-
79959660844
-
Rapid activity-induced transcription of Arc and other IEGs relies on poised RNA polymerase II
-
Saha R.N., Wissink E.M., Bailey E.R., Zhao M., Fargo D.C., Hwang J.Y., Daigle K.R., Fenn J.D., Adelman K., Dudek S.M. Rapid activity-induced transcription of Arc and other IEGs relies on poised RNA polymerase II. Nat. Neurosci. 2011, 14:848-856.
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 848-856
-
-
Saha, R.N.1
Wissink, E.M.2
Bailey, E.R.3
Zhao, M.4
Fargo, D.C.5
Hwang, J.Y.6
Daigle, K.R.7
Fenn, J.D.8
Adelman, K.9
Dudek, S.M.10
-
33
-
-
71149121303
-
Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex
-
Schaefer A., Sampath S.C., Intrator A., Min A., Gertler T.S., Surmeier D.J., Tarakhovsky A., Greengard P. Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex. Neuron 2009, 64:678-691.
-
(2009)
Neuron
, vol.64
, pp. 678-691
-
-
Schaefer, A.1
Sampath, S.C.2
Intrator, A.3
Min, A.4
Gertler, T.S.5
Surmeier, D.J.6
Tarakhovsky, A.7
Greengard, P.8
-
34
-
-
77952243965
-
Slitrk5 deficiency impairs corticostriatal circuitry and leads to obsessive-compulsive-like behaviors in mice
-
Shmelkov S.V., Hormigo A., Jing D., Proenca C.C., Bath K.G., Milde T., Shmelkov E., Kushner J.S., Baljevic M., Dincheva I., et al. Slitrk5 deficiency impairs corticostriatal circuitry and leads to obsessive-compulsive-like behaviors in mice. Nat. Med. 2010, 16:598-602.
-
(2010)
Nat. Med.
, vol.16
, pp. 598-602
-
-
Shmelkov, S.V.1
Hormigo, A.2
Jing, D.3
Proenca, C.C.4
Bath, K.G.5
Milde, T.6
Shmelkov, E.7
Kushner, J.S.8
Baljevic, M.9
Dincheva, I.10
-
35
-
-
0030777698
-
Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice
-
Silva A.J., Simpson E.M., Takahashi J.S., Lipp H.P., Nakanishi S., Wehner J.M., Giese K.P., Tully T., Abel T., Chapman P.F., et al. Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice. Neuron 1997, 19:755-759.
-
(1997)
Neuron
, vol.19
, pp. 755-759
-
-
Silva, A.J.1
Simpson, E.M.2
Takahashi, J.S.3
Lipp, H.P.4
Nakanishi, S.5
Wehner, J.M.6
Giese, K.P.7
Tully, T.8
Abel, T.9
Chapman, P.F.10
-
36
-
-
77953800799
-
Behavioural phenotyping assays for mouse models of autism
-
Silverman J.L., Yang M., Lord C., Crawley J.N. Behavioural phenotyping assays for mouse models of autism. Nat. Rev. Neurosci. 2010, 11:490-502.
-
(2010)
Nat. Rev. Neurosci.
, vol.11
, pp. 490-502
-
-
Silverman, J.L.1
Yang, M.2
Lord, C.3
Crawley, J.N.4
-
37
-
-
34249900454
-
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
-
Tahiliani M., Mei P., Fang R., Leonor T., Rutenberg M., Shimizu F., Li J., Rao A., Shi Y. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature 2007, 447:601-605.
-
(2007)
Nature
, vol.447
, pp. 601-605
-
-
Tahiliani, M.1
Mei, P.2
Fang, R.3
Leonor, T.4
Rutenberg, M.5
Shimizu, F.6
Li, J.7
Rao, A.8
Shi, Y.9
-
38
-
-
0004722260
-
QTL analysis identifies multiple behavioral dimensions in ethological tests of anxiety in laboratory mice
-
Turri M.G., Datta S.R., DeFries J., Henderson N.D., Flint J. QTL analysis identifies multiple behavioral dimensions in ethological tests of anxiety in laboratory mice. Curr. Biol. 2001, 11:725-734.
-
(2001)
Curr. Biol.
, vol.11
, pp. 725-734
-
-
Turri, M.G.1
Datta, S.R.2
DeFries, J.3
Henderson, N.D.4
Flint, J.5
-
39
-
-
80755168331
-
Genetic and epigenetic networks in intellectual disabilities
-
van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu. Rev. Genet. 2011, 45:81-104.
-
(2011)
Annu. Rev. Genet.
, vol.45
, pp. 81-104
-
-
van Bokhoven, H.1
-
40
-
-
0033825833
-
Behavioural analysis of four mouse strains in an anxiety test battery
-
van Gaalen M.M., Steckler T. Behavioural analysis of four mouse strains in an anxiety test battery. Behav. Brain Res. 2000, 115:95-106.
-
(2000)
Behav. Brain Res.
, vol.115
, pp. 95-106
-
-
van Gaalen, M.M.1
Steckler, T.2
-
41
-
-
84881472626
-
Targeting H3K4 trimethylation in Huntington disease
-
Vashishtha M., Ng C.W., Yildirim F., Gipson T.A., Kratter I.H., Bodai L., Song W., Lau A., Labadorf A., Vogel-Ciernia A., et al. Targeting H3K4 trimethylation in Huntington disease. Proc. Natl. Acad. Sci. USA 2013, 110:E3027-E3036.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. E3027-E3036
-
-
Vashishtha, M.1
Ng, C.W.2
Yildirim, F.3
Gipson, T.A.4
Kratter, I.H.5
Bodai, L.6
Song, W.7
Lau, A.8
Labadorf, A.9
Vogel-Ciernia, A.10
-
42
-
-
49749114829
-
Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain
-
Xu J., Deng X., Disteche C.M. Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain. PLoS ONE 2008, 3:e2553.
-
(2008)
PLoS ONE
, vol.3
, pp. e2553
-
-
Xu, J.1
Deng, X.2
Disteche, C.M.3
|