Kidney disease genetic risk variants alter lysosomal beta-mannosidase ( <i>MANBA</i> ) expression and disease severity
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- Xiangchen Gu
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Hongliu Yang
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Xin Sheng
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Yi-An Ko
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Chengxiang Qiu
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Jihwan Park
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Shizheng Huang
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Rachel Kember
- Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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- Renae L. Judy
- Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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- Joseph Park
- Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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- Scott M. Damrauer
- Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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- Girish Nadkarni
- Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Ruth J. F. Loos
- The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Vy Thi Ha My
- The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Kumardeep Chaudhary
- The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Erwin P. Bottinger
- The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Ishan Paranjpe
- The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Aparna Saha
- The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
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- Christopher Brown
- Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Shreeram Akilesh
- Department of Pathology, University of Washington, Seattle, WA 98195, USA.
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- Adriana M. Hung
- Nashville VA Medical Center, Nashville, TN 37212, USA.
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- Matthew Palmer
- Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Aris Baras
- Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
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- John D. Overton
- Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
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- Jeffrey Reid
- Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
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- Marylyn Ritchie
- Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
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- Daniel J. Rader
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
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- Katalin Susztak
- Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
抄録
<jats:p> <jats:italic>MANBA</jats:italic> is a kidney disease risk gene that alters tubular endolysosomal function, inducing inflammasome activation and fibrosis. </jats:p>
収録刊行物
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- Science Translational Medicine
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Science Translational Medicine 13 (576), 2021-01-13
American Association for the Advancement of Science (AAAS)