-
1
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15(1):70-73.
-
(1997)
Nat Genet
, 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
-
Matsuura T, et al. (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15(1):74-77.
-
(1997)
Nat Genet
, vol.15
, Issue.1
, pp. 74-77
-
-
Matsuura, T.1
-
3
-
-
85027953062
-
Prader-Willi syndrome
-
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012) Prader-Willi syndrome. Genet Med 14(1):10-26.
-
(2012)
Genet Med
, vol.14
, Issue.1
, pp. 10-26
-
-
Cassidy, S.B.1
Schwartz, S.2
Miller, J.L.3
Driscoll, D.J.4
-
4
-
-
84887081901
-
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
-
Schaaf CP, et al. (2013) Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 45(11):1405-1408.
-
(2013)
Nat Genet
, vol.45
, Issue.11
, pp. 1405-1408
-
-
Schaaf, C.P.1
-
5
-
-
49449111926
-
Mechanisms of imprinting of the Prader-Willi/Angelman region
-
Horsthemke B, Wagstaff J (2008) Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A 146A(16):2041-2052.
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.16
, pp. 2041-2052
-
-
Horsthemke, B.1
Wagstaff, J.2
-
6
-
-
0033073395
-
Imprinting-mutation mechanisms in Prader-Willi syndrome
-
Ohta T, et al. (1999) Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64(2):397-413.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.2
, pp. 397-413
-
-
Ohta, T.1
-
7
-
-
0033396274
-
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
-
Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B (1999) A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum Genet 105(6):665-666.
-
(1999)
Hum Genet
, vol.105
, Issue.6
, pp. 665-666
-
-
Buiting, K.1
Lich, C.2
Cottrell, S.3
Barnicoat, A.4
Horsthemke, B.5
-
8
-
-
84892744170
-
Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model
-
Meng L, et al. (2013) Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. PLoS Genet 9(12):e1004039.
-
(2013)
PLoS Genet
, vol.9
, Issue.12
-
-
Meng, L.1
-
10
-
-
0034931032
-
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice
-
Bressler J, et al. (2001) The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat Genet 28(3):232-240.
-
(2001)
Nat Genet
, vol.28
, Issue.3
, pp. 232-240
-
-
Bressler, J.1
-
11
-
-
0035336299
-
The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
-
Chamberlain SJ, Brannan CI (2001) The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73(3):316-322.
-
(2001)
Genomics
, vol.73
, Issue.3
, pp. 316-322
-
-
Chamberlain, S.J.1
Brannan, C.I.2
-
12
-
-
84857737967
-
Temporal and developmental requirements for the Prader-Willi imprinting center
-
DuBose AJ, Smith EY, Johnstone KA, Resnick JL (2012) Temporal and developmental requirements for the Prader-Willi imprinting center. Proc Natl Acad Sci USA 109(9):3446-3450.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, Issue.9
, pp. 3446-3450
-
-
DuBose, A.J.1
Smith, E.Y.2
Johnstone, K.A.3
Resnick, J.L.4
-
13
-
-
31544446862
-
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects
-
Johnstone KA, et al. (2006) A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet 15(3):393-404.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.3
, pp. 393-404
-
-
Johnstone, K.A.1
-
14
-
-
0031747932
-
A mouse model for Prader-Willi syndrome imprinting-centre mutations
-
Yang T, et al. (1998) A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet 19(1):25-31.
-
(1998)
Nat Genet
, vol.19
, Issue.1
, pp. 25-31
-
-
Yang, T.1
-
15
-
-
10144234124
-
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
-
Dittrich B, et al. (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14(2):163-170.
-
(1996)
Nat Genet
, vol.14
, Issue.2
, pp. 163-170
-
-
Dittrich, B.1
-
16
-
-
17144438935
-
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
-
Färber C, Dittrich B, Buiting K, Horsthemke B (1999) The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum Mol Genet 8(2):337-343.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.2
, pp. 337-343
-
-
Färber, C.1
Dittrich, B.2
Buiting, K.3
Horsthemke, B.4
-
17
-
-
70350356539
-
Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
-
Wawrzik M, Spiess AN, Herrmann R, Buiting K, Horsthemke B (2009) Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J Hum Genet 17(11):1463-1470.
-
(2009)
Eur J Hum Genet
, vol.17
, Issue.11
, pp. 1463-1470
-
-
Wawrzik, M.1
Spiess, A.N.2
Herrmann, R.3
Buiting, K.4
Horsthemke, B.5
-
18
-
-
3042821931
-
Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn
-
Landers M, et al. (2004) Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res 32(11):3480-3492.
-
(2004)
Nucleic Acids Res
, vol.32
, Issue.11
, pp. 3480-3492
-
-
Landers, M.1
-
19
-
-
33645234839
-
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
-
Mapendano CK, et al. (2006) Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain. J Hum Genet 51(3):236-243.
-
(2006)
J Hum Genet
, vol.51
, Issue.3
, pp. 236-243
-
-
Mapendano, C.K.1
-
20
-
-
84855273820
-
Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus
-
Smith EY, Futtner CR, Chamberlain SJ, Johnstone KA, Resnick JL (2011) Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus. PLoS Genet 7(12):e1002422.
-
(2011)
PLoS Genet
, vol.7
, Issue.12
-
-
Smith, E.Y.1
Futtner, C.R.2
Chamberlain, S.J.3
Johnstone, K.A.4
Resnick, J.L.5
-
21
-
-
84904504872
-
The specification of imprints in mammals
-
Hanna CW, Kelsey G (2014) The specification of imprints in mammals. Heredity 113(2):176-183.
-
(2014)
Heredity
, vol.113
, Issue.2
, pp. 176-183
-
-
Hanna, C.W.1
Kelsey, G.2
-
22
-
-
79960926264
-
Dynamic CpG island methylation landscape in oocytes and preimplantation embryos
-
Smallwood SA, et al. (2011) Dynamic CpG island methylation landscape in oocytes and preimplantation embryos. Nat Genet 43(8):811-814.
-
(2011)
Nat Genet
, vol.43
, Issue.8
, pp. 811-814
-
-
Smallwood, S.A.1
-
23
-
-
13444306641
-
NCBI Reference Sequence (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins
-
Pruitt KD, Tatusova T, Maglott DR (2005) NCBI Reference Sequence (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 33(database issue):D501-D504.
-
(2005)
Nucleic Acids Res
, vol.33
, Issue.DATABASE ISSUE
, pp. D501-D504
-
-
Pruitt, K.D.1
Tatusova, T.2
Maglott, D.R.3
-
24
-
-
33749069108
-
Bovine SNRPN methylation imprint in oocytes and day 17 in vitro-produced and somatic cell nuclear transfer embryos
-
Lucifero D, et al. (2006) Bovine SNRPN methylation imprint in oocytes and day 17 in vitro-produced and somatic cell nuclear transfer embryos. Biol Reprod 75(4):531-538.
-
(2006)
Biol Reprod
, vol.75
, Issue.4
, pp. 531-538
-
-
Lucifero, D.1
-
25
-
-
84860608328
-
Bovine DNA methylation imprints are established in an oocyte size-specific manner, which are coordinated with the expression of the DNMT3 family proteins
-
O'Doherty AM, O'Shea LC, Fair T (2012) Bovine DNA methylation imprints are established in an oocyte size-specific manner, which are coordinated with the expression of the DNMT3 family proteins. Biol Reprod 86(3):67.
-
(2012)
Biol Reprod
, vol.86
, Issue.3
, pp. 67
-
-
O'Doherty, A.M.1
O'Shea, L.C.2
Fair, T.3
-
26
-
-
0031586003
-
Prediction of complete gene structures in human genomic DNA
-
Burge C, Karlin S (1997) Prediction of complete gene structures in human genomic DNA. J Mol Biol 268(1):78-94.
-
(1997)
J Mol Biol
, vol.268
, Issue.1
, pp. 78-94
-
-
Burge, C.1
Karlin, S.2
-
27
-
-
84898892512
-
DNA methylation dynamics during epigenetic reprogramming in the germline and preimplantation embryos
-
Messerschmidt DM, Knowles BB, Solter D (2014) DNA methylation dynamics during epigenetic reprogramming in the germline and preimplantation embryos. Genes Dev 28(8):812-828.
-
(2014)
Genes Dev
, vol.28
, Issue.8
, pp. 812-828
-
-
Messerschmidt, D.M.1
Knowles, B.B.2
Solter, D.3
-
28
-
-
33947398048
-
DNA methylation imprints on the IG-DMR of the Dlk1-Gtl2 domain in mouse male germline
-
Hiura H, et al. (2007) DNA methylation imprints on the IG-DMR of the Dlk1-Gtl2 domain in mouse male germline. FEBS Lett 581(7):1255-1260.
-
(2007)
FEBS Lett
, vol.581
, Issue.7
, pp. 1255-1260
-
-
Hiura, H.1
-
29
-
-
1942421683
-
Gene-specific timing and epigenetic memory in oocyte imprinting
-
Lucifero D, Mann MR, Bartolomei MS, Trasler JM (2004) Gene-specific timing and epigenetic memory in oocyte imprinting. Hum Mol Genet 13(8):839-849.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.8
, pp. 839-849
-
-
Lucifero, D.1
Mann, M.R.2
Bartolomei, M.S.3
Trasler, J.M.4
-
30
-
-
58149506281
-
Transcription is required for establishment of germline methylation marks at imprinted genes
-
Chotalia M, et al. (2009) Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23(1):105-117.
-
(2009)
Genes Dev
, vol.23
, Issue.1
, pp. 105-117
-
-
Chotalia, M.1
-
31
-
-
22844451288
-
Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans
-
Landers M, et al. (2005) Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans. Nucleic Acids Res 33(13):3976-3984.
-
(2005)
Nucleic Acids Res
, vol.33
, Issue.13
, pp. 3976-3984
-
-
Landers, M.1
-
32
-
-
26644449673
-
Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region
-
Le Meur E, et al. (2005) Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev Biol 286(2):587-600.
-
(2005)
Dev Biol
, vol.286
, Issue.2
, pp. 587-600
-
-
Le Meur, E.1
-
33
-
-
32344448677
-
Mouse imprinting defect mutations that model Angelman syndrome
-
Wu MY, et al. (2006) Mouse imprinting defect mutations that model Angelman syndrome. Genesis 44(1):12-22.
-
(2006)
Genesis
, vol.44
, Issue.1
, pp. 12-22
-
-
Wu, M.Y.1
-
34
-
-
33744472165
-
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15
-
Zogel C, et al. (2006) Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet 14(6):752-758.
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.6
, pp. 752-758
-
-
Zogel, C.1
-
35
-
-
0032231460
-
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
-
Buiting K, et al. (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63(1):170-180.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.1
, pp. 170-180
-
-
Buiting, K.1
-
36
-
-
8444240032
-
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
-
Nazlican H, et al. (2004) Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet 13(21):2547-2555.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.21
, pp. 2547-2555
-
-
Nazlican, H.1
-
37
-
-
84876580247
-
New insights into establishment and maintenance of DNA methylation imprints in mammals
-
Kelsey G, Feil R (2013) New insights into establishment and maintenance of DNA methylation imprints in mammals. Philos Trans R Soc Lond B Biol Sci 368(1609):20110336.
-
(2013)
Philos Trans R Soc Lond B Biol Sci
, vol.368
, Issue.1609
-
-
Kelsey, G.1
Feil, R.2
-
38
-
-
84868686519
-
Treatment with the proteasome inhibitor MG132 during the end of oocyte maturation improves oocyte competence for development after fertilization in cattle
-
You J, et al. (2012) Treatment with the proteasome inhibitor MG132 during the end of oocyte maturation improves oocyte competence for development after fertilization in cattle. PLoS ONE 7(11):e48613.
-
(2012)
PLoS ONE
, vol.7
, Issue.11
-
-
You, J.1
-
39
-
-
79953281845
-
Fibroblast growth factor requirements for in vitro development of bovine embryos
-
Fields SD, Hansen PJ, Ealy AD (2011) Fibroblast growth factor requirements for in vitro development of bovine embryos. Theriogenology 75(8):1466-1475.
-
(2011)
Theriogenology
, vol.75
, Issue.8
, pp. 1466-1475
-
-
Fields, S.D.1
Hansen, P.J.2
Ealy, A.D.3
-
40
-
-
84876996918
-
TopHat2: Accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
-
Kim D, et al. (2013) TopHat2: Accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol 14(4):R36.
-
(2013)
Genome Biol
, vol.14
, Issue.4
, pp. R36
-
-
Kim, D.1
-
41
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
Quinlan AR, Hall IM (2010) BEDTools: A flexible suite of utilities for comparing genomic features. Bioinformatics 26(6):841-842.
-
(2010)
Bioinformatics
, vol.26
, Issue.6
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
42
-
-
84883134780
-
Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing
-
Xue Z, et al. (2013) Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing. Nature 500(7464):593-597.
-
(2013)
Nature
, vol.500
, Issue.7464
, pp. 593-597
-
-
Xue, Z.1
-
43
-
-
84883743509
-
Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells
-
Yan L, et al. (2013) Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells. Nat Struct Mol Biol 20(9):1131-1139.
-
(2013)
Nat Struct Mol Biol
, vol.20
, Issue.9
, pp. 1131-1139
-
-
Yan, L.1
-
44
-
-
56549101959
-
Alternative isoform regulation in human tissue transcriptomes
-
Wang ET, et al. (2008) Alternative isoform regulation in human tissue transcriptomes. Nature 456(7221):470-476.
-
(2008)
Nature
, vol.456
, Issue.7221
, pp. 470-476
-
-
Wang, E.T.1
-
45
-
-
0033545993
-
An imprinted, mammalian bicistronic transcript encodes two independent proteins
-
Gray TA, Saitoh S, Nicholls RD (1999) An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci USA 96(10):5616-5621.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, Issue.10
, pp. 5616-5621
-
-
Gray, T.A.1
Saitoh, S.2
Nicholls, R.D.3
|