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Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.
Gilmore RB, Gorka D, Stoddard CE, Cotney JL, Chamberlain SJ. Gilmore RB, et al. Among authors: chamberlain sj. bioRxiv [Preprint]. 2023 Aug 30:2023.08.30.555563. doi: 10.1101/2023.08.30.555563. bioRxiv. 2023. Update in: PLoS One. 2024 Nov 1;19(11):e0311565. doi: 10.1371/journal.pone.0311565. PMID: 37693591 Free PMC article. Updated. Preprint.
A bipartite boundary element restricts UBE3A imprinting to mature neurons.
Hsiao JS, Germain ND, Wilderman A, Stoddard C, Wojenski LA, Villafano GJ, Core L, Cotney J, Chamberlain SJ. Hsiao JS, et al. Among authors: chamberlain sj. Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):2181-2186. doi: 10.1073/pnas.1815279116. Epub 2019 Jan 23. Proc Natl Acad Sci U S A. 2019. PMID: 30674673 Free PMC article.
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.
Ube3a unsilencer for the potential treatment of Angelman syndrome.
Vihma H, Li K, Welton-Arndt A, Smith AL, Bettadapur KR, Gilmore RB, Gao E, Cotney JL, Huang HC, Collins JL, Chamberlain SJ, Lee HM, Aubé J, Philpot BD. Vihma H, et al. Among authors: chamberlain sj. Nat Commun. 2024 Jul 8;15(1):5558. doi: 10.1038/s41467-024-49788-8. Nat Commun. 2024. PMID: 38977672 Free PMC article.
50 results