Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Autor: Wlodarski MW; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany.; German Cancer Consortium (DKTK), Freiburg, Germany and German Cancer Research Center (DKFZ), Heidelberg, Germany., Da Costa L; University Paris VII Denis Diderot, Faculté de Médecine Xavier Bichat, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, Paris, France.; Inserm Unit 1149, CRI, Paris, France.; Hematology Laboratory, Robert Debré Hospital, Paris, France., O'Donohue MF; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, France., Gastou M; University Paris VII Denis Diderot, Faculté de Médecine Xavier Bichat, Paris, France.; Laboratory of Excellence for Red Cell, LABEX GR-Ex, Paris, France.; UMR1170, Gustave Roussy, Villejuif, France., Karboul N; University Paris VII Denis Diderot, Faculté de Médecine Xavier Bichat, Paris, France.; Inserm Unit 1149, CRI, Paris, France., Montel-Lehry N; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, France., Hainmann I; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany., Danda D; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany.; Department of Tumor Pathology, Centre of Oncology, Maria Sklodowska-Curie Memorial Institute, Poland., Szvetnik A; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany., Pastor V; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany.; Faculty of Biology, University of Freiburg, Germany., Paolini N; Department of Hematopoiesis, Sanquin and Landsteiner Laboratory, AMC/UvA, CX Amsterdam, the Netherlands., di Summa FM; Department of Hematopoiesis, Sanquin and Landsteiner Laboratory, AMC/UvA, CX Amsterdam, the Netherlands., Tamary H; Hematology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Israel., Quider AA; Pediatric Hematology/Oncology Department, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel., Aspesi A; Dipartimento di Scienze della Salute, Università del Piemonte Orientale, Novara, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, the Netherlands., Leblanc T; Pediatric Hematology Service, Robert-Debré Hospital and EA-3518, Université Paris Diderot - Institut Universitaire d'Hématologie, Paris, France., Niemeyer CM; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany.; German Cancer Consortium (DKTK), Freiburg, Germany and German Cancer Research Center (DKFZ), Heidelberg, Germany., Gleizes PE; LBME, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, France., MacInnes AW; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, the Netherlands marcin.wlodarski@uniklinik-freiburg.de.

Publikováno v: Haematologica [Haematologica] 2018 Jun; Vol. 103 (6), pp. 949-958. Date of Electronic Publication: 2018 Mar 29.

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.