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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar, Ahmed; Voraberger, Barbara; Rauch, Frank; Mairhofer, Mario; Schmidt, Katy; Guillemyn, Brecht; Mitulovic, Goran; Reiterer, Veronika; Haun, Margot; Mayr, Michaela M; Mayr, Johannes A; Kimeswenger, Susanne; Drews, Oliver; Saraff, Vrinda; Shaw, Nick; Fratzl-Zelman, Nadja; Symoens, Sofie; Farhan, Hesso; Högler, Wolfgang.
  • El-Gazzar A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
  • Voraberger B; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
  • Rauch F; Shriners Hospital for Children-Canada, Montreal, QC, Canada.
  • Mairhofer M; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Schmidt K; Department of Medical Engineering and Applied Social Sciences, University of Applied Sciences Upper Austria, Linz, Austria.
  • Guillemyn B; Centre for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
  • Mitulovic G; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Reiterer V; Clinical Department of Laboratory Medicine Proteomics Core Facility, Medical University Vienna, Vienna, Austria.
  • Haun M; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria.
  • Mayr MM; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria.
  • Mayr JA; Institute of Pathophysiology, Medical University of Innsbruck, Innsbruck, Austria.
  • Kimeswenger S; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Drews O; Department of Dermatology, Johannes Kepler University Linz, Austria.
  • Saraff V; Biomedical Mass Spectrometry, Center for Medical Research, Johannes Kepler University, Linz, Austria.
  • Shaw N; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Fratzl-Zelman N; Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
  • Symoens S; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Farhan H; The Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
  • Högler W; 1st Medical Department Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria.
EMBO Mol Med ; 15(4): e16834, 2023 04 11.
Article en En | MEDLINE | ID: mdl-36916446
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Colágeno Tipo I Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Año: 2023 Tipo del documento: Article