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Items: 1 to 20 of 156

1.

R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.

Powell WT, Coulson RL, Gonzales ML, Crary FK, Wong SS, Adams S, Ach RA, Tsang P, Yamada NA, Yasui DH, Chédin F, LaSalle JM.

Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):13938-43. doi: 10.1073/pnas.1305426110. Epub 2013 Aug 5.

2.

Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.

Leung KN, Vallero RO, DuBose AJ, Resnick JL, LaSalle JM.

Hum Mol Genet. 2009 Nov 15;18(22):4227-38. doi: 10.1093/hmg/ddp373. Epub 2009 Aug 5.

3.

Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus.

Galiveti CR, Raabe CA, Konthur Z, Rozhdestvensky TS.

Sci Rep. 2014 Sep 23;4:6445. doi: 10.1038/srep06445.

5.

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Meng L, Person RE, Beaudet AL.

Hum Mol Genet. 2012 Jul 1;21(13):3001-12. doi: 10.1093/hmg/dds130. Epub 2012 Apr 5.

6.

An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.

Wu MY, Jiang M, Zhai X, Beaudet AL, Wu RC.

PLoS One. 2012;7(4):e34348. doi: 10.1371/journal.pone.0034348. Epub 2012 Apr 4.

7.

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

Martins-Taylor K, Hsiao JS, Chen PF, Glatt-Deeley H, De Smith AJ, Blakemore AI, Lalande M, Chamberlain SJ.

Hum Mol Genet. 2014 May 1;23(9):2364-73. doi: 10.1093/hmg/ddt628. Epub 2013 Dec 20.

8.

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.

Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.

Hum Mol Genet. 2001 Nov 1;10(23):2687-700.

PMID:
11726556
9.

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

Hassan M, Butler MG.

Eur J Med Genet. 2016 Nov;59(11):584-589. doi: 10.1016/j.ejmg.2016.09.017. Epub 2016 Sep 19.

PMID:
27659713
10.

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.

Huang HS, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, Sciaky N, Dutton JW Jr, Lee HM, Chen X, Jin J, Bridges AS, Zylka MJ, Roth BL, Philpot BD.

Nature. 2011 Dec 21;481(7380):185-9. doi: 10.1038/nature10726.

11.

Mechanisms of imprinting of the Prader-Willi/Angelman region.

Horsthemke B, Wagstaff J.

Am J Med Genet A. 2008 Aug 15;146A(16):2041-52. doi: 10.1002/ajmg.a.32364. Review.

PMID:
18627066
12.

A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects.

Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL.

Hum Mol Genet. 2006 Feb 1;15(3):393-404. Epub 2005 Dec 20.

PMID:
16368707
13.

Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.

Landers M, Bancescu DL, Le Meur E, Rougeulle C, Glatt-Deeley H, Brannan C, Muscatelli F, Lalande M.

Nucleic Acids Res. 2004 Jun 29;32(11):3480-92. Print 2004.

14.

Imprinting in Angelman and Prader-Willi syndromes.

Jiang Y, Tsai TF, Bressler J, Beaudet AL.

Curr Opin Genet Dev. 1998 Jun;8(3):334-42. Review.

PMID:
9691003
15.

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL.

Genome Res. 1997 Apr;7(4):368-77.

16.

Angelman syndrome imprinting center encodes a transcriptional promoter.

Lewis MW, Brant JO, Kramer JM, Moss JI, Yang TP, Hansen PJ, Williams RS, Resnick JL.

Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):6871-5. doi: 10.1073/pnas.1411261111. Epub 2014 Nov 5. Erratum in: Proc Natl Acad Sci U S A. 2015 Jun 2;112(22):E2977.

17.

Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.

Rodriguez-Jato S, Shan J, Khadake J, Heggestad AD, Ma X, Johnstone KA, Resnick JL, Yang TP.

PLoS One. 2013;8(2):e52390. doi: 10.1371/journal.pone.0052390. Epub 2013 Feb 4.

18.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T.

Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30.

20.

Prader-Willi syndrome and Angelman syndrome.

Buiting K.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76. doi: 10.1002/ajmg.c.30273. Review.

PMID:
20803659

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