Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing.

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作者： Jana,Stanurova ^[1] ; Anika,Neureiter ^[2] ; Michaela,Hiber ^[1] ; Hannah,de Oliveira Kessler ^[2] ; Kristin,Stolp ^[2] ; Roman,Goetzke ^[3] ; Diana,Klein ^[4] ; Agnes,Bankfalvi ^[5] ; Hannes,Klump ^[2] ; Laura,Steenpass ^[1]

作者单位： Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. ^[1] Institute for Transfusion Medicine, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. ^[2] Helmholtz Institute for Biomedical Engineering, Stem Cell Biology and Cellular Engineering, RWTH Aachen University, Pauwelsstr. 20, 52074 Aachen, Germany. ^[3] Institute for Cell Biology, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. ^[4] Institute of Pathology, University Hospital Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. ^[5]

主题词 Angelman综合征(Angelman Syndrome);催化域(Catalytic Domain);细胞分化(Cell Differentiation);DNA甲基化(DNA Methylation);真皮(Dermis);后成说, 遗传(Epigenesis, Genetic);女(雌)性(Female);成纤维细胞(Fibroblasts);基因组印迹(Genomic Imprinting);人类(Humans);诱导多能干细胞(Induced Pluripotent Stem Cells);模型, 生物学(Models, Biological);神经元(Neurons);蛋白质结合(Protein Binding);序列缺失(Sequence Deletion);泛素蛋白连接酶类(Ubiquitin-Protein Ligases)

DOI 10.1038/srep30792

PMID 27484051

发布时间 2022-04-08

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Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing.

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Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing.

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