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Items: 1 to 20 of 245

1.

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.

Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R.

Hum Mol Genet. 2005 Apr 15;14(8):1049-58. Epub 2005 Mar 9.

PMID:
15757975
2.
3.

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D.

Pediatr Neurol. 2005 May;32(5):355-7.

PMID:
15866439
4.

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

Hitchins MP, Rickard S, Dhalla F, Fairbrother UL, de Vries BB, Winter R, Pembrey ME, Malcolm S.

Am J Med Genet A. 2004 Mar 1;125A(2):167-72. Erratum in: Am J Med Genet A. 2005 Jun 15;135(3):346. Fairbrother, Una L [added].

PMID:
14981718
5.

Ube3a expression is not altered in Mecp2 mutant mice.

Jordan C, Francke U.

Hum Mol Genet. 2006 Jul 15;15(14):2210-5. Epub 2006 Jun 5.

PMID:
16754645
6.

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.

Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T.

Nat Genet. 2005 Jan;37(1):31-40. Epub 2004 Dec 19.

PMID:
15608638
7.

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, Ch├ędin 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.

8.

Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.

Brant JO, Riva A, Resnick JL, Yang TP.

Epigenetics. 2014 Nov;9(11):1540-56. doi: 10.4161/15592294.2014.969667.

9.

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

Balmer D, Arredondo J, Samaco RC, LaSalle JM.

Hum Genet. 2002 Jun;110(6):545-52. Epub 2002 Apr 25.

PMID:
12107440
10.

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
11.

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.

Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M.

Proc Natl Acad Sci U S A. 2010 Oct 12;107(41):17668-73. doi: 10.1073/pnas.1004487107. Epub 2010 Sep 27.

12.

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.

Chen RZ, Akbarian S, Tudor M, Jaenisch R.

Nat Genet. 2001 Mar;27(3):327-31.

PMID:
11242118
13.

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
14.

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.

15.

Molecular epigenetics of Angelman syndrome.

Lalande M, Calciano MA.

Cell Mol Life Sci. 2007 Apr;64(7-8):947-60. Review.

PMID:
17347796
16.

Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice.

Lawson-Yuen A, Liu D, Han L, Jiang ZI, Tsai GE, Basu AC, Picker J, Feng J, Coyle JT.

Brain Res. 2007 Nov 14;1180:1-6. Epub 2007 Aug 24.

17.

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
18.

15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.

Yasui DH, Scoles HA, Horike S, Meguro-Horike M, Dunaway KW, Schroeder DI, Lasalle JM.

Hum Mol Genet. 2011 Nov 15;20(22):4311-23. doi: 10.1093/hmg/ddr357. Epub 2011 Aug 12.

19.

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders.

Samaco RC, Nagarajan RP, Braunschweig D, LaSalle JM.

Hum Mol Genet. 2004 Mar 15;13(6):629-39. Epub 2004 Jan 20.

PMID:
14734626
20.

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.

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