A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

Autor: Paolini NA; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands., Attwood M; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., Sondalle SB; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Vieira CMDS; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., van Adrichem AM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands., di Summa FM; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands., O'Donohue MF; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., Gleizes PE; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, 31000 Toulouse, France., Rachuri S; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., Briggs JW; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., Fischer R; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., Ratcliffe PJ; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands., von Lindern M; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands., Kuijpers TW; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands., Dinman JD; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA., Baserga SJ; Department of Molecular Biophysics and Biochemistry, Genetics, and Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, USA., Cockman ME; Target Discovery Institute, University of Oxford, Oxford, OX3 7FZ, UK., MacInnes AW; Department of Hematopoiesis, Sanquin, and Landsteiner Laboratory, AMC/UvA, 1066 CX Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands. Electronic address: a.w.macinnes@amc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Mar 02; Vol. 100 (3), pp. 506-522.