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Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
van Dijk, Fleur S; Semler, Oliver; Etich, Julia; Köhler, Anna; Jimenez-Estrada, Juan A; Bravenboer, Nathalie; Claeys, Lauria; Riesebos, Elise; Gegic, Sejla; Piersma, Sander R; Jimenez, Connie R; Waisfisz, Quinten; Flores, Carmen-Lisset; Nevado, Julian; Harsevoort, Arjan J; Janus, Guus J M; Franken, Anton A M; van der Sar, Astrid M; Meijers-Heijboer, Hanne; Heath, Karen E; Lapunzina, Pablo; Nikkels, Peter G J; Santen, Gijs W E; Nüchel, Julian; Plomann, Markus; Wagener, Raimund; Rehberg, Mirko; Hoyer-Kuhn, Heike; Eekhoff, Elisabeth M W; Pals, Gerard; Mörgelin, Matthias; Newstead, Simon; Wilson, Brian T; Ruiz-Perez, Victor L; Maugeri, Alessandra; Netzer, Christian; Zaucke, Frank; Micha, Dimitra.
Afiliación
  • van Dijk FS; Expert Center for Adults with Osteogenesis Imperfecta, Isala Hospital, 10400 Zwolle, the Netherlands; Department of Clinical Genetics, University Medical Center Groningen, 30001 Groningen, the Netherlands; North West Thames Regional Genetics Service, London North West Health Care University NHS Trus
  • Semler O; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Etich J; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Orthopaedic University Hospital Friedrichsheim gGmbH, Frankfurt/Main 60528, Germany.
  • Köhler A; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Jimenez-Estrada JA; Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), CSIC-UAM, Madrid 28029, Spain.
  • Bravenboer N; Department of Clinical Chemistry, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Claeys L; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Riesebos E; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Gegic S; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Piersma SR; Department of Medical Oncology, Cancer center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Jimenez CR; Department of Medical Oncology, Cancer center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Flores CL; Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), CSIC-UAM, Madrid 28029, Spain.
  • Nevado J; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid 28029, Spain; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz-IdiPaz-Universidad Autonóma de Madrid, Madrid 28046, Spain.
  • Harsevoort AJ; Expert Center for Adults with Osteogenesis Imperfecta, Isala Hospital, 10400 Zwolle, the Netherlands.
  • Janus GJM; Expert Center for Adults with Osteogenesis Imperfecta, Isala Hospital, 10400 Zwolle, the Netherlands.
  • Franken AAM; Expert Center for Adults with Osteogenesis Imperfecta, Isala Hospital, 10400 Zwolle, the Netherlands.
  • van der Sar AM; Department of Medical Microbiology and Infection Control, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Meijers-Heijboer H; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Heath KE; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid 28029, Spain; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz-IdiPaz-Universidad Autonóma de Madrid, Madrid 28046, Spain; Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hosp
  • Lapunzina P; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid 28029, Spain; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz-IdiPaz-Universidad Autonóma de Madrid, Madrid 28046, Spain.
  • Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Santen GWE; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Nüchel J; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Plomann M; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Wagener R; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne 50931, Germany.
  • Rehberg M; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Hoyer-Kuhn H; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Eekhoff EMW; Department of Internal Medicine Section Endocrinology, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Pals G; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Mörgelin M; Colzyx AB, Medicon Village, Lund 22381, Sweden.
  • Newstead S; Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.
  • Wilson BT; North West Thames Regional Genetics Service, London North West Health Care University NHS Trust, Harrow HA1 3UJ, UK; Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK.
  • Ruiz-Perez VL; Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), CSIC-UAM, Madrid 28029, Spain; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), ISCIII, Madrid 28029, Spain; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz-IdiPaz-Universidad A
  • Maugeri A; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands.
  • Netzer C; Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany.
  • Zaucke F; Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Orthopaedic University Hospital Friedrichsheim gGmbH, Frankfurt/Main 60528, Germany.
  • Micha D; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam 1081BT, the Netherlands. Electronic address: d.micha@amsterdamumc.nl.
Am J Hum Genet ; 107(5): 989-999, 2020 11 05.
Article en En | MEDLINE | ID: mdl-33053334
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Huesos / Colágeno Tipo I / Proteínas de Transporte Vesicular / Proteínas del Choque Térmico HSP47 Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Huesos / Colágeno Tipo I / Proteínas de Transporte Vesicular / Proteínas del Choque Térmico HSP47 Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article