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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Authors:Joery den Hoed  Elke de Boer  Norine Voisin  Alexander J.M. Dingemans  Nicolas Guex  Laurens Wiel  Christoffer Nellaker  Shivarajan M. Amudhavalli  Siddharth Banka  Frederique S. Bena  Bruria Ben-Zeev  Vincent R. Bonagura  Ange-Line Bruel  Theresa Brunet  Han G. Brunner  Hui B. Chew  Jacqueline Chrast  Loreta Cimbalistienė  Lisenka E.L.M. Vissers
Affiliation:1. Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands;2. International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands;3. Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands;4. Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands;5. Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland;6. Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland;7. Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;8. Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands;9. Nuffield Department of Women’s and Reproductive Health, University of Oxford, Women’s Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK;10. Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK;11. Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK;12. University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA;13. Department of Pediatrics, Division of Clinical Genetics, Children’s Mercy Hospital, Kansas City, MO 64108, USA;14. Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK;15. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK;16. Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland;17. Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel;18. Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA;19. Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA;20. UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France;21. Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France;22. Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany;23. Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands;24. Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia;25. Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania;26. Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA;27. Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK;28. Center for Genetic Medicine Research, Children’s National Hospital, Children’s Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA;29. Department of clinical genetics, Vannes hospital, 56017 Vannes, France;30. Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany;31. Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada;32. Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel;33. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France;34. Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France;35. Department of Rehabilitation and Development, Randall Children’s Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA;36. Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany;37. Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan;38. Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA;39. Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA;40. Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands;41. Pediatrics & Genetics, Alpharetta, GA 30005, USA;42. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan;43. Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK;44. Division of Medical Genetics & Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USA;45. Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA;46. West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK;47. Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan;48. Zuidwester, 3240AA Middelharnis, the Netherlands;49. Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil;50. University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil;51. CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France;52. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;53. Baylor Genetics, Houston, TX 77021, USA;54. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA;55. GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA;56. Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA;57. Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia;58. Clinical Genetics, Guy’s Hospital, Great Maze Pond, London SE1 9RT, UK;59. Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK;60. Clinical Genetics, St Michael’s Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK;61. Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Sheffield S5 7AU, UK;62. Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA;63. Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland;64. Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands;65. Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA;66. Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA;67. Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA;68. Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany;69. Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada;70. The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA;71. Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK;72. Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands;73. Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel
Abstract:
Keywords:SATB1  de novo variants  neurodevelopmental disorders  intellectual disability  seizures  teeth abnormalities  HPO-based analysis  cell-based functional assays
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