作者:
Ana,Rio-Machin [1]
;
Tom,Vulliamy [2]
;
Nele,Hug [3]
;
Amanda,Walne [4]
;
Kiran,Tawana [5]
;
Shirleny,Cardoso [4]
;
Alicia,Ellison [4]
;
Nikolas,Pontikos [4]
;
Jun,Wang [6]
;
Hemanth,Tummala [4]
;
Ahad Fahad H,Al Seraihi [7]
;
Jenna,Alnajar [4]
;
Findlay,Bewicke-Copley [7]
;
Hannah,Armes [7]
;
Michael,Barnett [8]
;
Adrian,Bloor [9]
;
Csaba,Bödör [10]
;
David,Bowen [11]
;
Pierre,Fenaux [12]
;
Andrew,Green [13]
;
Andrew,Hallahan [14]
;
Henrik,Hjorth-Hansen [15]
;
Upal,Hossain [16]
;
Sally,Killick [17]
;
Sarah,Lawson [18]
;
Mark,Layton [19]
;
Alison M,Male [20]
;
Judith,Marsh [21]
;
Priyanka,Mehta [22]
;
Rogier,Mous [23]
;
Josep F,Nomdedéu [24]
;
Carolyn,Owen [25]
;
Jiri,Pavlu [19]
;
Elspeth M,Payne [26]
;
Rachel E,Protheroe [22]
;
Claude,Preudhomme [27]
;
Nuria,Pujol-Moix [28]
;
Aline,Renneville [24]
;
Nigel,Russell [29]
;
Anand,Saggar [30]
;
Gabriela,Sciuccati [31]
;
David,Taussig [32]
;
Cynthia L,Toze [33]
;
Anne,Uyttebroeck [8]
;
Peter,Vandenberghe [34]
;
Brigitte,Schlegelberger [34]
;
Tim,Ripperger [35]
;
Doris,Steinemann [35]
;
John,Wu [35]
;
Joanne,Mason [36]
;
Paula,Page [37]
;
Susanna,Akiki [37]
;
Kim,Reay [38]
;
Jamie D,Cavenagh [37]
;
Vincent,Plagnol [39]
;
Javier F,Caceres [40]
;
Jude,Fitzgibbon [3]
;
Inderjeet,Dokal [41]
作者单位:
Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK. a.rio-machin@qmul.ac.uk.
[1]
Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK. t.vulliamy@qmul.ac.uk.
[2]
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
[3]
Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK.
[4]
Department of Haematology, Addenbrooke's Hospital, Cambridge, UK.
[5]
Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
[6]
Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
[7]
The Leukemia/BMT Program of British Columbia, Division of Hematology, Department of Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
[8]
Department of Haematology, Christie Hospital, Manchester, UK.
[9]
MTA-SE Lendulet Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
[10]
Department of Haematology, St James's University Hospital, Leeds, UK.
[11]
Service d'hématologie Séniors, Hôpital St Louis/Université Paris, Paris, France.
[12]
National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
[13]
Children's Health Queensland Hospital and Health Service, Queensland Children's Hospital, South Brisbane, QLD, Australia.
[14]
Department of Hematology, St Olavs Hospital and Institute of Cancer Research and Molecular Medicine (IKM) Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
[15]
Department of Haematology, Whipps Cross Hospital, Barts NHS Trust, London, UK.
[16]
Department of Haematology, The Royal Bournemouth Hospital NHS Foundation Trust, Bournemouth, UK.
[17]
Department of Haematology, Birmingham Children's Hospital, Birmingham, UK.
[18]
Centre for Haematology, Imperial College London, Hammersmith Hospital, London, UK.
[19]
Clinic Genetics Unit, Great Ormond Street Hospital, London, UK.
[20]
Department of Haematological Medicine, Haematology Institute, King's College Hospital, London, UK.
[21]
Bristol Haematology Unit, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
[22]
UMC Utrecht Cancer Center, Universitair Medisch Centrum Utrecht, Huispostnummer, Utrecht, Netherlands.
[23]
Laboratori d´Hematologia, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
[24]
Division of Hematology and Hematological Malignancies, Foothills Medical Centre, Calgary, AB, Canada.
[25]
Department of Haematology, UCL Cancer Institute, University College London, London, UK.
[26]
Laboratory of Hematology, Biology and Pathology Center, Centre Hospitalier Regional Universitaire de Lille, Lille, France.
[27]
Jean-Pierre Aubert Research Center, INSERM, Universitaire de Lille, Lille, France.
[28]
Broad Institute of Harvard and MIT, Cambridge, MA, USA.
[29]
Centre for Clinical Haematology, Nottingham University Hospitals NHS Trust, Nottingham, UK.
[30]
Clinical Genetics, St George's Hospital Medical School, London, UK.
[31]
Servicio de Hematologia y Oncologia, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Ciudad Autonoma de Buenos Aires, Argentina.
[32]
Haemato-oncology Department, Royal Marsden Hospital, Sutton, UK.
[33]
Department of Hematology, University Hospitals Leuven, Leuven, Belgium.
[34]
Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany.
[35]
British Columbia Children's Hospital, Vancouver, BC, Canada.
[36]
West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
[37]
Department of Laboratory Medicine & Pathology, Qatar Rehabilitation Institute, Hamad Bin Khalifa Medical City (HBKM), Doha, Qatar.
[38]
Department of Haematology, St Bartholomew's Hospital, Barts NHS Trust, London, UK.
[39]
Genetics Institute, University College London, London, UK.
[40]
Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK. j.fitzgibbon@qmul.ac.uk.
[41]
Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, London, UK. i.dokal@qmul.ac.uk.
[42]
Barts Health NHS Trust, London, UK. i.dokal@qmul.ac.uk.
[43]
主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);腺苷脱氨酶(Adenosine Deaminase);纤毛轴动力蛋白(Axonemal Dyneins);队列研究(Cohort Studies);生殖细胞系突变(Germ-Line Mutation);人类(Humans);白血病, 髓样, 急性(Leukemia, Myeloid, Acute);骨髓增生异常综合征(Myelodysplastic Syndromes);系谱(Pedigree);穿孔素(Perforin);血小板膜糖蛋白类(Platelet Membrane Glycoproteins);RNA解螺旋酶类(RNA Helicases);受体, 白细胞介素17(Receptors, Interleukin-17);膜泡运输蛋白质类(Vesicular Transport Proteins)
DOI
10.1038/s41467-020-14829-5
PMID
32098966
发布时间
2024-02-10
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Nature communications
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