-
1
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
DOI 10.1038/ng0197-70
-
Kishino, T., Lalande, M. & Wagstaff, J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet. 15, 70-73 (1997). (Pubitemid 27014952)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
2
-
-
0031031570
-
De novo truncating mutations in E6-Ap ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
DOI 10.1038/ng0197-74
-
Matsuura, T. et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet. 15, 74-77 (1997). (Pubitemid 27014953)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.-J.4
Jiang, Y.-H.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
-
3
-
-
0030890115
-
The E6-AP ubiquitin protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
-
Sutcliffe, J. S. et al. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res. 7, 368-377 (1997). (Pubitemid 27183005)
-
(1997)
Genome Research
, vol.7
, Issue.4
, pp. 368-377
-
-
Sutcliffe, J.S.1
Jiang, Y.-H.2
Galjaard, R.-J.3
Matsuura, T.4
Fang, P.5
Kubota, T.6
Christian, S.L.7
Bressler, J.8
Cattanach, B.9
Ledbetter, D.H.10
Beaudet, A.L.11
-
4
-
-
0030879482
-
Imprinted expression of the murine angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
-
DOI 10.1038/ng0997-75
-
Albrecht, U. et al. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genet. 17, 75-78 (1997). (Pubitemid 27377535)
-
(1997)
Nature Genetics
, vol.17
, Issue.1
, pp. 75-78
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
Beechey, C.V.4
Armstrong, D.5
Eichele, G.6
Beaudet, A.L.7
-
5
-
-
0031228039
-
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
-
Rougeulle, C., Glatt, H. & Lalande, M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nature Genet. 17, 14-15 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 14-15
-
-
Rougeulle, C.1
Glatt, H.2
Lalande, M.3
-
6
-
-
0031230614
-
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
-
Vu, T. H. & Hoffman, A. R. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nature Genet. 17, 12-13 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 12-13
-
-
Vu, T.H.1
Hoffman, A.R.2
-
7
-
-
79957560791
-
Angelman syndrome: Insights into genomic imprinting and neurodevelopmental phenotypes
-
Mabb, A. M., Judson, M. C., Zylka, M. J. & Philpot, B. D. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 34, 293-303 (2011).
-
(2011)
Trends Neurosci.
, vol.34
, pp. 293-303
-
-
Mabb, A.M.1
Judson, M.C.2
Zylka, M.J.3
Philpot, B.D.4
-
8
-
-
77955297555
-
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
-
Peters, S. U. et al. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am. J. Med. Genet. 152A, 1994-2001 (2010).
-
(2010)
Am. J. Med. Genet.
, vol.152 A
, pp. 1994-2001
-
-
Peters, S.U.1
-
9
-
-
0035336299
-
The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
-
DOI 10.1006/geno.2001.6543
-
Chamberlain, S. J. & Brannan, C. I. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73, 316-322 (2001). (Pubitemid 32463727)
-
(2001)
Genomics
, vol.73
, Issue.3
, pp. 316-322
-
-
Chamberlain, S.J.1
Brannan, C.I.2
-
10
-
-
3042821931
-
Regulation of the large (∼1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn
-
DOI 10.1093/nar/gkh670
-
Landers, M. et al. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res. 32, 3480-3492 (2004). (Pubitemid 39117465)
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.11
, pp. 3480-3492
-
-
Landers, M.1
Bancescu, D.L.2
Le Meur, E.3
Rougeulle, C.4
Glatt-Deeley, H.5
Brannan, C.6
Muscatelli, F.7
Lalande, M.8
-
11
-
-
79954595669
-
Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription
-
Numata, K., Kohama, C., Abe, K. & Kiyosawa, H. Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription. Nucleic Acids Res. 39, 2649-2657 (2011).
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 2649-2657
-
-
Numata, K.1
Kohama, C.2
Abe, K.3
Kiyosawa, H.4
-
12
-
-
67549083336
-
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
-
Nakatani, J. et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 137, 1235-1246 (2009).
-
(2009)
Cell
, vol.137
, pp. 1235-1246
-
-
Nakatani, J.1
-
13
-
-
0032192481
-
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
-
Jiang, Y. H. et al. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21, 799-811 (1998).
-
(1998)
Neuron
, vol.21
, pp. 799-811
-
-
Jiang, Y.H.1
-
14
-
-
0036197031
-
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
-
DOI 10.1006/nbdi.2001.0463
-
Miura, K. et al. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol. Dis. 9, 149-159 (2002). (Pubitemid 34261211)
-
(2002)
Neurobiology of Disease
, vol.9
, Issue.2
, pp. 149-159
-
-
Miura, K.1
Kishino, T.2
Li, E.3
Webber, H.4
Dikkes, P.5
Holmes, G.L.6
Wagstaff, J.7
-
15
-
-
37549057995
-
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
-
Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B. & Beaudet, A. L. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum. Mol. Genet. 17, 111-118 (2008).
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 111-118
-
-
Dindot, S.V.1
Antalffy, B.A.2
Bhattacharjee, M.B.3
Beaudet, A.L.4
-
16
-
-
0032067559
-
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
-
Rougeulle, C., Cardoso, C., Fontes, M., Colleaux, L. & Lalande, M. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nature Genet. 19, 15-16 (1998).
-
(1998)
Nature Genet.
, vol.19
, pp. 15-16
-
-
Rougeulle, C.1
Cardoso, C.2
Fontes, M.3
Colleaux, L.4
Lalande, M.5
-
17
-
-
0035509699
-
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
-
Runte, M. et al. The IC-SNURF-SNRPNtranscript serves as a host formultiplesmall nucleolar RNA species and as an antisense RNA for UBE3A. Hum. Mol. Genet. 10, 2687-2700 (2001). (Pubitemid 33133410)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.23
, pp. 2687-2700
-
-
Runte, M.1
Huttenhofer, A.2
Gross, S.3
Kiefmann, M.4
Horsthemke, B.5
Buiting, K.6
-
18
-
-
78449249135
-
Genome-wide analysis of expression modes and DNA methylation status at sense-antisense transcript loci in mouse
-
Watanabe, Y. et al. Genome-wide analysis of expression modes and DNA methylation status at sense-antisense transcript loci in mouse. Genomics 96, 333-341 (2010).
-
(2010)
Genomics
, vol.96
, pp. 333-341
-
-
Watanabe, Y.1
-
19
-
-
33749034730
-
Topoisomerase I inhibitors: Camptothecins and beyond
-
DOI 10.1038/nrc1977, PII NRC1977
-
Pommier, Y. Topoisomerase I inhibitors: camptothecins and beyond. Nature Rev. Cancer 6, 789-802 (2006). (Pubitemid 44450467)
-
(2006)
Nature Reviews Cancer
, vol.6
, Issue.10
, pp. 789-802
-
-
Pommier, Y.1
-
20
-
-
0024537205
-
Modification of the hydroxy lactone ring of camptothecin: inhibition of mammalian topoisomerase I and biological activity
-
DOI 10.1021/jm00123a038
-
Hertzberg, R. P. et al. Modification of the hydroxy lactone ring of camptothecin: inhibition ofmammalian topoisomerase I and biological activity. J.Med. Chem. 32, 715-720 (1989). (Pubitemid 19075732)
-
(1989)
Journal of Medicinal Chemistry
, vol.32
, Issue.3
, pp. 715-720
-
-
Hertzberg, R.P.1
Caranfa, M.J.2
Holden, K.G.3
Jakas, D.R.4
Gallagher, G.5
Mattern, M.R.6
Mong, S.-M.7
Bartus, J.O.8
Johnson, R.K.9
Kingsbury, W.D.10
-
21
-
-
27944466708
-
DNA topoisomerase I in the mouse central nervous system: Age and sex dependence
-
DOI 10.1002/cne.20793
-
Plaschkes, I., Silverman, F. W. & Priel, E. DNA topoisomerase I in the mouse central nervous system: age and sex dependence. J. Comp. Neurol. 493, 357-369 (2005). (Pubitemid 41677467)
-
(2005)
Journal of Comparative Neurology
, vol.493
, Issue.3
, pp. 357-369
-
-
Plaschkes, I.1
Silverman, F.W.2
Priel, E.3
-
22
-
-
0028898424
-
Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
-
Scheffner, M., Nuber, U.& Huibregtse, J. M. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373, 81-83 (1995).
-
(1995)
Nature
, vol.373
, pp. 81-83
-
-
Scheffner, M.1
Nuber, U.2
Huibregtse, J.M.3
-
23
-
-
27644522319
-
Expression and assay of HECT domain ligases
-
DOI 10.1016/S0076-6879(05)98011-7, PII S0076687905980117, Ubiquitin and Protein Degradation (Part A)
-
Beaudenon, S., Dastur, A. & Huibregtse, J. M. Expression and assay of HECT domain ligases. Methods Enzymol. 398, 112-125 (2005). (Pubitemid 41578879)
-
(2005)
Methods in Enzymology
, vol.398
, pp. 112-125
-
-
Beaudenon, S.1
Dastur, A.2
Huibregtse, J.M.3
-
24
-
-
0030908874
-
Physical interaction between specific E2 and hect E3 enzymes determines functional cooperativity
-
DOI 10.1074/jbc.272.21.13548
-
Kumar, S., Kao, W. H. & Howley, P. M. Physical interaction between specific E2 and Hect E3 enzymes determines functional cooperativity. J. Biol. Chem. 272, 13548-13554 (1997). (Pubitemid 27224784)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.21
, pp. 13548-13554
-
-
Kumar, S.1
Kao, W.H.2
Howley, P.M.3
-
25
-
-
0034931032
-
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
-
DOI 10.1038/90067
-
Bressler, J. et al. The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nature Genet. 28, 232-240 (2001). (Pubitemid 32626025)
-
(2001)
Nature Genetics
, vol.28
, Issue.3
, pp. 232-240
-
-
Bressler, J.1
Tsai, T.-F.2
Wu, M.-Y.3
Tsai, S.-F.4
Ramirez, M.A.5
Armstrong, D.6
Beaudet, A.L.7
-
26
-
-
34249279527
-
Stability and flexibility of epigenetic gene regulation in mammalian development
-
DOI 10.1038/nature05918, PII NATURE05918
-
Reik, W. Stability and flexibility of epigenetic gene regulation in mammalian development. Nature 447, 425-432 (2007). (Pubitemid 46816749)
-
(2007)
Nature
, vol.447
, Issue.7143
, pp. 425-432
-
-
Reik, W.1
-
27
-
-
33751058418
-
Intrathecal topotecan in adult patients with neoplastic meningitis
-
DOI 10.2146/ajhp060165
-
Gammon, D. C. et al. Intrathecal topotecan in adult patients with neoplastic meningitis. Am. J. Health Syst. Pharm. 63, 2083-2086 (2006). (Pubitemid 44757779)
-
(2006)
American Journal of Health-System Pharmacy
, vol.63
, Issue.21
, pp. 2083-2086
-
-
Gammon, D.C.1
Bhatt, M.S.2
Tran, L.3
Van Horn, A.4
Benvenuti, M.5
Glantz, M.J.6
-
28
-
-
77649083119
-
The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc
-
Greer, P. L. et al. The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 140, 704-716 (2010).
-
(2010)
Cell
, vol.140
, pp. 704-716
-
-
Greer, P.L.1
-
29
-
-
33750301347
-
Role of topoisomerase IIβ in the expression of developmentally regulated genes
-
DOI 10.1128/MCB.00617-06
-
Lyu, Y. L. et al. Role of topoisomerase IIb in the expression of developmentally regulated genes. Mol. Cell. Biol. 26, 7929-7941 (2006). (Pubitemid 44630993)
-
(2006)
Molecular and Cellular Biology
, vol.26
, Issue.21
, pp. 7929-7941
-
-
Lyu, Y.L.1
Lin, C.-P.2
Azarova, A.M.3
Cai, L.4
Wang, J.C.5
Liu, L.F.6
-
30
-
-
0035215752
-
The development of camptothecin analogs in childhood cancers
-
DOI 10.1634/theoncologist.6-6-506
-
Bomgaars, L., Berg, S. L.&Blaney, S. M. The development ofcamptothecin analogs in childhood cancers. Oncologist 6, 506-516 (2001). (Pubitemid 33152096)
-
(2001)
Oncologist
, vol.6
, Issue.6
, pp. 506-516
-
-
Bomgaars, L.1
Berg, S.L.2
Blaney, S.M.3
-
31
-
-
0034609859
-
Synthesis of new indeno[1,2-c]isoquinolines: Cytotoxic noncamptothecin topoisomerase i inhibitors
-
Cushman, M. et al. Synthesis of new indeno[1,2-c]isoquinolines: cytotoxic noncamptothecin topoisomerase I inhibitors. J. Med. Chem. 43, 3688-3698 (2000).
-
(2000)
J. Med. Chem.
, vol.43
, pp. 3688-3698
-
-
Cushman, M.1
-
32
-
-
33750142705
-
Synthesis and evaluation of indenoisoquinoline topoisomerase I inhibitors substituted with nitrogen heterocycles
-
DOI 10.1021/jm060564z
-
Nagarajan, M. et al.Synthesisandevaluation of indenoisoquinoline topoisomerase I inhibitors substituted with nitrogen heterocycles. J. Med. Chem. 49, 6283-6289 (2006). (Pubitemid 44595205)
-
(2006)
Journal of Medicinal Chemistry
, vol.49
, Issue.21
, pp. 6283-6289
-
-
Nagarajan, M.1
Morrell, A.2
Ioanoviciu, A.3
Antony, S.4
Kohlhagen, G.5
Agama, K.6
Hollingshead, M.7
Pommier, Y.8
Cushman, M.9
-
33
-
-
33744981623
-
Image processing with ImageJ
-
Abramoff, M. D., Magelhaes, P. J. & Ram, S. J. Image processing with ImageJ. Biophotonics International 11, 36-42 (2004).
-
(2004)
Biophotonics International
, vol.11
, pp. 36-42
-
-
Abramoff, M.D.1
Magelhaes, P.J.2
Ram, S.J.3
-
34
-
-
33847710201
-
CellProfiler: Free, versatile software for automated biological image analysis
-
Lamprecht, M. R., Sabatini, D. M. & Carpenter, A. E. CellProfiler: free, versatile software for automated biological image analysis. Biotechniques 42, 71-75 (2007).
-
(2007)
Biotechniques
, vol.42
, pp. 71-75
-
-
Lamprecht, M.R.1
Sabatini, D.M.2
Carpenter, A.E.3
-
35
-
-
0032837539
-
Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
-
DOI 10.1093/hmg/8.8.1357
-
Tsai, T. F., Jiang, Y. H., Bressler, J., Armstrong, D. & Beaudet, A. L. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum. Mol. Genet. 8, 1357-1364 (1999). (Pubitemid 29374068)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.8
, pp. 1357-1364
-
-
Tsai, T.-F.1
Jiang, Y.-H.2
Bressler, J.3
Armstrong, D.4
Beaudet, A.L.5
-
36
-
-
34250178425
-
A targeted deletion upstream of Snrpn does not result in an imprinting defect
-
DOI 10.1007/s00335-007-9019-3
-
Peery, E. G., Elmore, M. D., Resnick, J. L., Brannan, C. I.& Johnstone, K. A. A targeted deletion upstream of Snrpn does not result in an imprinting defect. Mamm. Genome 18, 255-262 (2007). (Pubitemid 46897409)
-
(2007)
Mammalian Genome
, vol.18
, Issue.4
, pp. 255-262
-
-
Peery, E.G.1
Elmore, M.D.2
Resnick, J.L.3
Brannan, C.I.4
Johnstone, K.A.5
-
37
-
-
0142043854
-
Spinal delivery of analgesics in experimental models of pain and analgesia
-
DOI 10.1016/S0169-409X(03)00101-7
-
Fairbanks, C. A. Spinal delivery of analgesics in experimental models of pain and analgesia. Adv. Drug Deliv. Rev. 55, 1007-1041 (2003). (Pubitemid 37288986)
-
(2003)
Advanced Drug Delivery Reviews
, vol.55
, Issue.8
, pp. 1007-1041
-
-
Fairbanks, C.A.1
-
38
-
-
74949114118
-
De novo neurogenesis in adult hypothalamus as a compensatory mechanism to regulate energy balance
-
Pierce, A. A. & Xu, A. W. De novo neurogenesis in adult hypothalamus as a compensatory mechanism to regulate energy balance. J. Neurosci. 30, 723-730 (2010).
-
(2010)
J. Neurosci.
, vol.30
, pp. 723-730
-
-
Pierce, A.A.1
Xu, A.W.2
|