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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Authors:Yuh-Charn Lin  Marcello Niceta  Valentina Muto  Barbara Vona  Alistair T Pagnamenta  Reza Maroofian  Christian Beetz  Hermine van Duyvenvoorde  Maria Lisa Dentici  Peter Lauffer  Sadeq Vallian  Andrea Ciolfi  Simone Pizzi  Peter Bauer  Nana-Maria Grüning  Emanuele Bellacchio  Andrea Del Fattore  Stefania Petrini  Marco Tartaglia
Institution:1. Department of Physiology, School of Medicine, Taipei Medical University, 110301 Taipei, Taiwan;2. Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan;3. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy;4. Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany;5. Department of Otolaryngology - Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany;6. NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK;7. Genetics and Molecular Cell Sciences Research Centre, St George’s University of London, Cranmer Terrace, SW17 0RE London, UK;8. Centogene AG, 18055 Rostock, Germany;9. Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands;10. Department of Paediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, 1105 AZ Amsterdam, the Netherlands;11. Department of Cell and Molecular Biology & Microbiology, University of Isfahan, 8174673441 Isfahan, Iran;12. Confocal Microscopy Core Facility, Research Laboratories, IRCCS Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy;13. Department of Genetics, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia;14. Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar;15. Pediatric Endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Healthcare Campus, 352540 Haifa, Israel;16. Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, 352540 Haifa, Israel;17. Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel;18. The Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel;19. Department of Pediatric Endocrinology, Gaziantep Cengiz Gökcek Maternity & Children’s Hospital, 27010 Gaziantep, Turkey;20. Department of Pediatrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands;21. Institute of Bioinformatics, Julius Maximilians University, 97070 Würzburg, Germany;22. Unidade de Endocrinologia Genética, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo, 01246903 Sao Paulo, Brazil;23. Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo, 05403000 Sao Paulo, Brazil;24. Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel;25. Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, SE1 9RT London, UK;26. Birmingham Women’s and Children’s NHS Foundation Trust, University of Birmingham, B4 6NH Birmingham, UK;27. Department of Paediatrics, Sheikh Khalifa Medical City, 51900 Abu Dhabi, United Arab Emirates;28. Johns Hopkins Aramco Healthcare, 34465 Dhahran, Saudi Arabia;29. Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel;30. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India;31. Ph.D. Program in Drug Discovery and Development Industry, College of Pharmacy, Taipei Medical University, 110301 Taipei, Taiwan;32. Institute of Pharmacology, School of Medicine, National Yang-Ming University, 112304, Taipei, Taiwan
Abstract:
Keywords:SCUBE  BMP  BMP receptors  bone morphogenetic protein  skeletal development  morphogenesis  genomic sequencing  mechanism of disease  intracellular signaling
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