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Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits.
Beard DC, Zhang X, Wu DY, Martin JR, Erickson A, Boua JV, Hamagami N, Swift RG, McCullough KB, Ge X, Bell-Hensley A, Zheng H, Palmer CW, Fuhler NA, Lawrence AB, Hill CA, Papouin T, Noguchi KK, McAlinden A, Garbow JR, Dougherty JD, Maloney SE, Gabel HW. Beard DC, et al. Cell Rep. 2023 Nov 28;42(11):113411. doi: 10.1016/j.celrep.2023.113411. Epub 2023 Nov 11. Cell Rep. 2023. PMID: 37952155 Free PMC article.
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.
Smith AM, LaValle TA, Shinawi M, Ramakrishnan SM, Abel HJ, Hill CA, Kirkland NM, Rettig MP, Helton NM, Heath SE, Ferraro F, Chen DY, Adak S, Semenkovich CF, Christian DL, Martin JR, Gabel HW, Miller CA, Ley TJ. Smith AM, et al. Nat Commun. 2021 Jul 27;12(1):4549. doi: 10.1038/s41467-021-24800-7. Nat Commun. 2021. PMID: 34315901 Free PMC article.
Skeletal abnormalities in mice with Dnmt3a missense mutations.
Bell-Hensley A, Beard DC, Feeney K, Zheng H, Jiang Y, Zhang X, Liu J, Gabel H, McAlinden A. Bell-Hensley A, et al. Bone. 2024 Jun;183:117085. doi: 10.1016/j.bone.2024.117085. Epub 2024 Mar 23. Bone. 2024. PMID: 38522809 Free PMC article.
12 results