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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
Authors:M. Cecilia Poli  Frédéric Ebstein  Sarah K. Nicholas  Marietta M. de Guzman  Lisa R. Forbes  Ivan K. Chinn  Emily M. Mace  Tiphanie P. Vogel  Alexandre F. Carisey  Felipe Benavides  Zeynep H. Coban-Akdemir  Richard A. Gibbs  Shalini N. Jhangiani  Donna M. Muzny  Claudia M.B. Carvalho  Deborah A. Schady  Mahim Jain  Jill A. Rosenfeld  Jordan S. Orange
Affiliation:1. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;2. Texas Children’s Hospital, Division of Pediatric Immunology, Allergy, and Rheumatology, Houston, TX 77030, USA;3. Instituto de Ciencias e Innovación en Medicina, Universidad del Desarrollo, Clínica Alemana de Santiago, RM 7590943, Chile;4. Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, 17475 Greifswald, Germany;5. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;6. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;7. Texas Children’s Hospital, Department of Pathology and Immunology, Houston, TX 77030, USA;8. Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA;9. Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA;10. Centre Hospitalier Universitaire de Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, 44093 Nantes Cedex 1, France;11. Texas Children’s Hospital, Houston, TX 77030, USA
Abstract:
Keywords:POMP  interferonopathy  autoinflammatory syndrome  dominant negative  core particle proteasome 20S  primary immune deficiency  PID  POMP-related autoinflammation and immune dysregulation disease  PRAID  nonsense-mediated decay
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