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Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.

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作者单位: Division of Rheumatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.;RVCL Research Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. [1] Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan. [2] Department of Neuroscience of Disease, Brain Research Institute, Niigata University, Niigata, Japan. [3] Department of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA. [4] Metaorganism Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.;NIAID Microbiome Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. [5] Department of Pathology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan. [6] Department of Pathology and Immunology, Washington University in Saint Louis, Saint Louis, MO, USA. [7] Department of Microbiology, The University of Chicago, Chicago, IL, USA.;Florida Research and Innovation Center, Cleveland Clinic, Port Saint Lucie, FL, USA. [8] Equipe Labellisée Ligue Contre le Cancer, Institut Curie, CNRS, INSERM, PSL Research University, Paris, France. [9] INSERM U932, Institut Curie, PSL Research University, Paris, France. [10] High-throughput Screening Core, University of Pennsylvania, Philadelphia, PA, USA. [11] Central and Northern Adelaide Renal and Transplantation Service (CNARTS), The Royal Adelaide Hospital, Adelaide, South Australia, Australia.;School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia. [12] Metaorganism Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.;NIAID Microbiome Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.;Institut Pasteur, Paris, France. [13] Department of Cancer Biology, Penn Center for Genome Integrity, Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [14] Institute for Immunology and Immune Health, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.;Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. [15] Genetics, Repromed, Monash IVF, Dulwich, South Australia, Australia.;Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia. [16] Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata University, Niigata, Japan.;Department of Molecular Neuroscience, Brain Science Branch, Brain Research Institute, Niigata University, Niigata, Japan. [17] Department of Molecular Neuroscience, Brain Science Branch, Brain Research Institute, Niigata University, Niigata, Japan. taisuke8077@bri.niigata-u.ac.jp. [18] Division of Rheumatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Jonathan.Miner@PennMedicine.UPenn.edu.;RVCL Research Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Jonathan.Miner@PennMedicine.UPenn.edu.;Department of Medicine, Washington University in Saint Louis, Saint Louis, MO, USA. Jonathan.Miner@PennMedicine.UPenn.edu.;Institute for Immunology and Immune Health, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Jonathan.Miner@PennMedicine.UPenn.edu.;Department of Microbiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Jonathan.Miner@PennMedicine.UPenn.edu.;Penn Colton Center for Autoimmunity, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Jonathan.Miner@PennMedicine.UPenn.edu. [19]
DOI 10.1038/s41467-024-49066-7
PMID 38824133
发布时间 2025-01-15
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