Chamberlain SJ - Search Results

1

Abundance and localization of human UBE3A protein isoforms.

Sirois CL, Bloom JE, Fink JJ, Gorka D, Keller S, Germain ND, Levine ES, Chamberlain SJ. Sirois CL, et al. Among authors: chamberlain sj. Hum Mol Genet. 2020 Nov 4;29(18):3021-3031. doi: 10.1093/hmg/ddaa191. Hum Mol Genet. 2020. PMID: 32833011 Free PMC article.

2

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.

Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R. Lee S, et al. Among authors: chamberlain sj. Hum Mol Genet. 2000 Jul 22;9(12):1813-9. doi: 10.1093/hmg/9.12.1813. Hum Mol Genet. 2000. PMID: 10915770

3

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.

Chamberlain SJ, Lalande M. Chamberlain SJ, et al. Neurobiol Dis. 2010 Jul;39(1):13-20. doi: 10.1016/j.nbd.2010.03.011. Epub 2010 Mar 18. Neurobiol Dis. 2010. PMID: 20304067 Review.

4

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. Chamberlain SJ, et al. Proc Natl Acad Sci U S A. 2010 Oct 12;107(41):17668-73. doi: 10.1073/pnas.1004487107. Epub 2010 Sep 27. Proc Natl Acad Sci U S A. 2010. PMID: 20876107 Free PMC article.

5

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. Martins-Taylor K, et al. Among authors: chamberlain sj. Hum Mol Genet. 2014 May 1;23(9):2364-73. doi: 10.1093/hmg/ddt628. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363065 Free PMC article.

6

Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs.

Cruvinel E, Budinetz T, Germain N, Chamberlain S, Lalande M, Martins-Taylor K. Cruvinel E, et al. Hum Mol Genet. 2014 Sep 1;23(17):4674-85. doi: 10.1093/hmg/ddu187. Epub 2014 Apr 23. Hum Mol Genet. 2014. PMID: 24760766 Free PMC article.

7

Modeling Genomic Imprinting Disorders Using Induced Pluripotent Stem Cells.

Chamberlain SJ, Germain ND, Chen PF, Hsiao JS, Glatt-Deeley H. Chamberlain SJ, et al. Methods Mol Biol. 2016;1353:45-64. doi: 10.1007/7651_2014_169. Methods Mol Biol. 2016. PMID: 25520291

8

Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.

Germain ND, Chen PF, Plocik AM, Glatt-Deeley H, Brown J, Fink JJ, Bolduc KA, Robinson TM, Levine ES, Reiter LT, Graveley BR, Lalande M, Chamberlain SJ. Germain ND, et al. Among authors: chamberlain sj. Mol Autism. 2014 Aug 20;5:44. doi: 10.1186/2040-2392-5-44. eCollection 2014. Mol Autism. 2014. PMID: 25694803 Free PMC article.

9

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.

LaSalle JM, Reiter LT, Chamberlain SJ. LaSalle JM, et al. Among authors: chamberlain sj. Epigenomics. 2015 Oct;7(7):1213-28. doi: 10.2217/epi.15.70. Epub 2015 Nov 20. Epigenomics. 2015. PMID: 26585570 Free PMC article. Review.

10

RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing.

Chen PF, Hsiao JS, Sirois CL, Chamberlain SJ. Chen PF, et al. Among authors: chamberlain sj. Sci Rep. 2016 May 5;6:25368. doi: 10.1038/srep25368. Sci Rep. 2016. PMID: 27146458 Free PMC article.

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