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Open Access
Peer-reviewed
Research Article
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta
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Wayne A. Cabral,
Affiliation Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America
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Masaki Ishikawa,
Current address: Department of Restorative Dentistry, Division of Operative Dentistry, Tohoku University, Graduate School of Dentistry, Sendai, Japan
Affiliation Molecular Biology Section, NIDCR, NIH, Bethesda, Maryland, United States of America
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Matthias Garten,
Affiliation Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America
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Elena N. Makareeva,
Affiliation Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, United States of America
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Brandi M. Sargent,
Affiliation Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America
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MaryAnn Weis,
Affiliation Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America
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Aileen M. Barnes,
Affiliation Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America
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Emma A. Webb,
Affiliations School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom, Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, United Kingdom
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Nicholas J. Shaw,
Affiliation Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, United Kingdom
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Leena Ala-Kokko,
Affiliation Connective Tissue Gene Tests, Allentown, Pennsylvania, United States of America
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Felicitas L. Lacbawan,
Current address: Molecular Genetics Pathology Section, Department of Molecular Pathology, Robert Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA
Affiliation Department of Medical Genetics, Children’s National Medical Center, Washington D.C., United States of America
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Wolfgang Högler,
Affiliations School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom, Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, United Kingdom
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Sergey Leikin,
Affiliation Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, United States of America
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Paul S. Blank,
Affiliation Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America
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Joshua Zimmerberg,
Affiliation Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America
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David R. Eyre,
Affiliation Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America
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Yoshihiko Yamada,
Affiliation Molecular Biology Section, NIDCR, NIH, Bethesda, Maryland, United States of America
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Joan C. Marini
* E-mail: oidoc@helix.nih.gov
Affiliation Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America
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Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta
- Wayne A. Cabral,
- Masaki Ishikawa,
- Matthias Garten,
- Elena N. Makareeva,
- Brandi M. Sargent,
- MaryAnn Weis,
- Aileen M. Barnes,
- Emma A. Webb,
- Nicholas J. Shaw,
- Leena Ala-Kokko
- Published: July 21, 2016
- https://doi.org/10.1371/journal.pgen.1006156