首页> Basic research in cardiology> Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

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第一作者： He,Jiang

第一单位： Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, OX3 9DU, UK.

作者： He,Jiang ^[1] ; Charlotte,Hooper ^[1] ; Matthew,Kelly ^[1] ; Violetta,Steeples ^[1] ; Jillian N,Simon ^[1] ; Julia,Beglov ^[1] ; Amar J,Azad ^[1] ; Lisa,Leinhos ^[1] ; Pauline,Bennett ^[2] ; Elisabeth,Ehler ^[2] ; Jacinta I,Kalisch-Smith ^[3] ; Duncan B,Sparrow ^[3] ; Roman,Fischer ^[4] ; Raphael,Heilig ^[4] ; Henrik,Isackson ^[5] ; Mehroz,Ehsan ^[1] ; Giannino,Patone ^[6] ; Norbert,Huebner ^[6] ; Benjamin,Davies ^[7] ; Hugh,Watkins ^[1] ; Katja,Gehmlich ^[8]

作者单位： Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, OX3 9DU, UK. ^[1] Randall Centre for Cell and Molecular Biophysics, School of Cardiovascular Medicine and Sciences, King's College London BHF Centre of Research Excellence, London, UK. ^[2] Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK. ^[3] Nuffield Department of Clinical Medicine, Target Discovery Institute, University of Oxford, Oxford, UK. ^[4] Department of Medical Sciences, Cardiology, Uppsala University, Uppsala, Sweden.;Department of Medical Cell Biology, Integrative Physiology, Uppsala University, Uppsala, Sweden. ^[5] Max Delbrueck Centre for Molecular Medicine, Berlin, Germany. ^[6] Transgenic Core, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. ^[7] Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, OX3 9DU, UK. k.gehmlich@bham.ac.uk.;Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, B15 2TT, UK. k.gehmlich@bham.ac.uk. ^[8]

关键词 Cardiomyopathy Mouse model Proteasome Proteo-toxic response Telethonin Titin missense variant