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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
Affiliation:1. Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany;2. Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany;3. Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium;4. Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium;5. Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium;6. Istituto Di Patalogia Clinica, Azienda Sanitaria Universitaria Integrata di Udine (ASUID), 33100 Udine, Italy;7. Research Division, Shriners Hospital for Children, Portland, OR 97239, USA;8. Division of Infection Medicine, Department of Clinical Sciences, Lund University, 22242 Lund, Sweden;9. Colzyx AB, 22363 Lund, Sweden;10. Department of Dermatology and Institute of Virology and Cell Biology, University of Lübeck, 23562 Lübeck, Germany;11. Department of Biochemistry II, Faculty of Medicine, Oita University, Oita 870-1192, Japan;12. Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany;13. Institute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany;14. Department of Pediatric Cardiology, Ghent University Hospital, 9000 Ghent, Belgium;15. Department of Medical Genetics, Istanbul Medeniyet University Medical School, 34720 Istanbul, Turkey;16. Department of Medical Genetics, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, 34722 Istanbul, Turkey;17. Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey;18. Department of Molecular Medicine, University of Padova, 35131 Padova, Italy;19. Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;20. Department of Pediatric Cardiology, Kanuni Sultan Suleyman Research and Training Hospital, 34303 Istanbul, Turkey;21. Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium;22. VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium;23. Department of Pathology, University of California San Francisco, San Francisco, CA 94115, USA;24. Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA;25. Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield S10 2TH, UK;26. Department of Oncology and Metabolism, The University of Sheffield, Sheffield S10 2TN, UK;27. Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield S10 2TH, UK;28. Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK;29. Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA;30. Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA;31. Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA;32. Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA;33. Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682041, India;34. Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada
Abstract:
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  • Keywords:cutis laxa  arterial tortuosity  aortic aneurysm  fracture  EFEMP2  LOX  collagen  elastic fiber  extracellular matrix
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