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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.
Cabral, Wayne A; Ishikawa, Masaki; Garten, Matthias; Makareeva, Elena N; Sargent, Brandi M; Weis, MaryAnn; Barnes, Aileen M; Webb, Emma A; Shaw, Nicholas J; Ala-Kokko, Leena; Lacbawan, Felicitas L; Högler, Wolfgang; Leikin, Sergey; Blank, Paul S; Zimmerberg, Joshua; Eyre, David R; Yamada, Yoshihiko; Marini, Joan C.
Afiliação
  • Cabral WA; Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Ishikawa M; Molecular Biology Section, NIDCR, NIH, Bethesda, Maryland, United States of America.
  • Garten M; Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Makareeva EN; Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Sargent BM; Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.
  • Barnes AM; Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Webb EA; School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom.
  • Shaw NJ; Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, United Kingdom.
  • Ala-Kokko L; Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, United Kingdom.
  • Lacbawan FL; Connective Tissue Gene Tests, Allentown, Pennsylvania, United States of America.
  • Högler W; Department of Medical Genetics, Children's National Medical Center, Washington D.C., United States of America.
  • Leikin S; School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom.
  • Blank PS; Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, United Kingdom.
  • Zimmerberg J; Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Eyre DR; Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Yamada Y; Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America.
  • Marini JC; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.
PLoS Genet ; 12(7): e1006156, 2016 07.
Article em En | MEDLINE | ID: mdl-27441836
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Cálcio / Colágeno Tipo I / Canais Iônicos Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Cálcio / Colágeno Tipo I / Canais Iônicos Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article