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TNPO2 variants associate with human developmental delays,neurologic deficits,and dysmorphic features and alter TNPO2 activity in Drosophila
Affiliation:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;2. Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA;3. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA;4. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands;5. Department of Pediatric Neurology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, the Netherlands;6. Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands;7. Department of Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands;8. Houston Area Pediatric Neurology, 24514 Kingsland Blvd, Katy, TX 77494, USA;9. Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA;10. Center for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium;11. Department of Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium;12. Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK;13. Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK;14. T.Y. Nelson Department of Neurology and Neurosurgery, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia;15. Kids Neuroscience Centre, The Children’s Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia;16. Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands;17. Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA;18. Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France;19. INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l’institut du thorax, 44007 Nantes, France;20. Phoenix Children’s Hospital, Phoenix, AZ 85016, USA;21. Department of Child Health, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA;22. Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA;23. Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA;24. Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA;25. University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA;26. GeneDx, Gaithersburg, MD 20877, USA;27. The Undiagnosed Diseases Network (UDN) consortia, see Supplemental Note S2 for co-investigators, Harvard University, Cambridge, MA 02138, USA;28. Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA;29. Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA;30. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
Abstract:
Keywords:Transportin  TNPO1  TNPO2  intellectual disability  global developmental delays  nucleocytoplasmic shuttling  rare disease  Karyopherin-β2b  Importin-3
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