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Open Access
Peer-reviewed
Research Article
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13
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Yihan Zhang ,
Contributed equally to this work with: Yihan Zhang, Haigen Huang
Affiliations Laboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen China, Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America
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Haigen Huang ,
Contributed equally to this work with: Yihan Zhang, Haigen Huang
Affiliation Laboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen China
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Gexin Zhao,
Affiliations Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America, Department of Orthopaedic Surgery and Orthopaedic Institute for Children, David Geffen School of Medicine, University of California, Los Angeles, California, United States of America
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Tadafumi Yokoyama,
Affiliation Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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Hugo Vega,
Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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Yan Huang,
Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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Raman Sood,
Affiliation Zebrafish core, Translational and Functional Genomics Branch, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America
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Kevin Bishop,
Affiliation Zebrafish core, Translational and Functional Genomics Branch, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America
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Valerie Maduro,
Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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John Accardi,
Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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Camilo Toro,
Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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Cornelius F. Boerkoel,
Affiliation NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America
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Karen Lyons,
Affiliations Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America, Department of Orthopaedic Surgery and Orthopaedic Institute for Children, David Geffen School of Medicine, University of California, Los Angeles, California, United States of America
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William A. Gahl,
Affiliations Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America, NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America
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Xiaohong Duan ,
* E-mail: xhduan@fmmu.edu.cn (XD);malicdanm@mail.nih.gov (MCVM); shuolin@ucla.edu (SL)
Affiliation State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Diseases, Shaanxi Key Laboratory of Oral Diseases, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi’an, China
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May Christine V. Malicdan ,
* E-mail: xhduan@fmmu.edu.cn (XD);malicdanm@mail.nih.gov (MCVM); shuolin@ucla.edu (SL)
Affiliations Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America, NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, Maryland, United States of America
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Shuo Lin
* E-mail: xhduan@fmmu.edu.cn (XD);malicdanm@mail.nih.gov (MCVM); shuolin@ucla.edu (SL)
Affiliation Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America
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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13
- Yihan Zhang,
- Haigen Huang,
- Gexin Zhao,
- Tadafumi Yokoyama,
- Hugo Vega,
- Yan Huang,
- Raman Sood,
- Kevin Bishop,
- Valerie Maduro,
- John Accardi
- Published: February 3, 2017
- https://doi.org/10.1371/journal.pgen.1006481