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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.


15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.

Hum Mol Genet. 2007 Mar 15;16(6):691-703. Epub 2007 Mar 5.


Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.

Thatcher KN, Peddada S, Yasui DH, Lasalle JM.

Hum Mol Genet. 2005 Mar 15;14(6):785-97. Epub 2005 Feb 2.


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.


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.


Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.

J Med Genet. 2009 Feb;46(2):86-93. doi: 10.1136/jmg.2008.061580. Epub 2008 Oct 7.


Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

Meguro-Horike M, Yasui DH, Powell W, Schroeder DI, Oshimura M, Lasalle JM, Horike S.

Hum Mol Genet. 2011 Oct 1;20(19):3798-810. doi: 10.1093/hmg/ddr298. Epub 2011 Jul 1.


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.


Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.

Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM.

Hum Mol Genet. 2009 Feb 1;18(3):525-34. doi: 10.1093/hmg/ddn380. Epub 2008 Nov 10.


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.


Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL.

BMC Genomics. 2008 Jan 28;9:50. doi: 10.1186/1471-2164-9-50.


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.


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.


Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.

Scoles HA, Urraca N, Chadwick SW, Reiter LT, Lasalle JM.

Mol Autism. 2011 Dec 12;2(1):19. doi: 10.1186/2040-2392-2-19.


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.


Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF.

J Child Psychol Psychiatry. 2005 Oct;46(10):1089-96.


Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.

Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG.

J Med Genet. 2003 Aug;40(8):568-74.

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