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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Institution:1. Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France;2. Université de Nantes, CHU Nantes, CNRS, INSERM, l’Institut du Thorax, 44007 Nantes, France;3. Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany;4. Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France;5. Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France;6. INSERM U934/CNRS UMR 3215, 75248 Paris, France;7. Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands;8. Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands;9. GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA;10. Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel;11. Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA;12. CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France;13. UMR CNRS 6214-INSERM 1083, Université d’Angers, 49933 Angers Cedex 9, France;14. Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA;15. Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94304, USA;16. PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA;17. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA;18. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA;19. Genomic Medicine, Columbia University, New York, NY 10032, USA;20. Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic;21. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA;22. Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France;23. UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France;24. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;25. Baylor Genetics Laboratory, Houston, TX 77021, USA;26. CHRU Brest, Génétique Médicale, 29609 Brest, France;27. CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France;28. EA 3808, Université Poitiers, 86034 Poitiers, France;29. Service de Génétique Clinique, Centre Référence “Déficiences Intellectuelles de causes rares,” Centre de Référence Anomalies du Développement CLAD-Ouest, ERN ITHACA, CHU Rennes, 35203 Rennes, France;30. CNRS UMR 6290 IGDR “Institut de Génétique et développement de Rennes,” Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France;31. Center for Genetic Medicine Research/Rare Disease Institute, Children’s National Medical Center, Washington, DC 20010, USA;32. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, 10/10C103, MSC 1851, Bethesda, MD 20892, USA;33. Institut Curie, SIREDO (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), 75005 Paris, France;34. Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma, Equipe Labellisée Par la Ligue Nationale Contre le Cancer, 75248 Paris, France
Abstract:
Keywords:intellectual disability  ubiquitin  deubiquitination  ubiquitin-proteasome system  UPS  histone 2A  chromatin remodeling  neurodevelopment  cancer  tumor
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