Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

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作者： Ellis Y,Kim ^[1] ; David Y,Barefield ^[2] ; Andy H,Vo ^[3] ; Anthony M,Gacita ^[2] ; Emma J,Schuster ^[2] ; Eugene J,Wyatt ^[2] ; Janel L,Davis ^[4] ; Biqin,Dong ^[4] ; Cheng,Sun ^[5] ; Patrick,Page ^[5] ; Lisa,Dellefave-Castillo ^[2] ; Alexis,Demonbreun ^[2] ; Hao F,Zhang ^[2] ; Elizabeth M,McNally ^[4]

作者单位： Molecular Pathogenesis and Molecular Medicine, The University of Chicago, Chicago, Illinois, USA. ^[1] Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. ^[2] Committee on Development, Regeneration, and Stem Cell Biology, The University of Chicago, Chicago, Illinois, USA. ^[3] Department of Biomedical Engineering and. ^[4] Department of Mechanical Engineering, Northwestern University, Evanston, Illinois, USA. ^[5]

关键词 Cardiology Genetic variation Muscle Stem cells iPS cells

主题词钙(Calcium);细胞系(Cell Line);肌营养不良蛋白(Dystrophin);基因表达(Gene Expression);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);人类(Humans);诱导多能干细胞(Induced Pluripotent Stem Cells);肌肉发育(Muscle Development);肌纤维, 骨骼(Muscle Fibers, Skeletal);肌D蛋白质(MyoD Protein);肌细胞, 心脏(Myocytes, Cardiac);营养不良性肌强直(Myotonic Dystrophy);RNA剪接(RNA Splicing);RNA结合蛋白质类(RNA-Binding Proteins)

DOI 10.1172/jci.insight.122686

PMID 30730308

发布时间 2020-06-22

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Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

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Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

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