Germline selection shapes human mitochondrial DNA diversity

Autor: Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Attwood, A, Brown, M, Brod, NC, Crisp-Hihn, A, Davis, J, Deevi, SVV, Dewhurst, EF, Edwards, K, Erwood, M, Fox, J, Frary, AJ, Hu, F, Jolley, J, Kingston, N, Linger, R, Mapeta, R, Martin, J, Meacham, S, Papadia, S, Rayner-Matthews, PJ, Samarghitean, C, Shamardina, O, Simeoni, I, Staines, S, Staples, E, Stark, H, Stephens, J, Titterton, C, Von Ziegenweidt, J, Watt, C, Whitehorn, D, Wood, Y, Yates, K, Yu, P, James, R, Ashford, S, Penkett, CJ, Stirrups, KE, Bariana, T, Lentaigne, C, Sivapalaratnam, S, Westbury, SK, Allsup, DJ, Bakchoul, T, Biss, T, Boyce, S, Collins, J, Collins, PW, Curry, NS, Downes, K, Dutt, T, Erber, WN, Evans, G, Everington, T, Favier, R, Gomez, K, Greene, D, Gresele, P, Hart, D, Kazmi, R, Kelly, AM, Lambert, M, Madan, B, Mangles, S, Mathias, M, Millar, C, Obaji, S, Peerlinck, K, Roughley, C, Schulman, S, Scully, M, Shapiro, SE, Sibson, K, Sims, MC, Tait, RC, Talks, K, Thys, C, Toh, C-H, Van Geet, C, Westwood, J-P, Mumford, AD, Ouwehand, WH, Freson, K, Laffan, MA, Tan, RYY, Harkness, K, Mehta, S, Muir, KW, Hassan, A, Traylor, M, Drazyk, AM, Parry, D, Ahmed, M, Kazkaz, H, Vandersteen, AM, Ormondroyd, E, Thomson, K, Dent, T, Buchan, RJ, Bueser, T, Carr-White, G, Cook, S, Daniels, MJ, Harper, AR, Ware, JS, Dixon, PH, Chambers, J, Cheng, F, Estiu, MC, Hague, WM, Marschall, H-U, Vazquez-Lopez, M, Arno, G, French, CE, Michaelides, M, Moore, AT, Sanchis-Juan, A, Carss, K, Raymond, FL, Chinnery, PF, Griffiths, P, Horvath, R, Hudson, G, Jurkute, N, Pyle, A, Yu-Wai-Man, P, Whitworth, J, Adlard, J, Armstrong, R, Brewer, C, Casey, R, Cole, TRP, Evans, DG, Greenhalgh, L, Hanson, HL, Hoffman, J, Izatt, L, Kumar, A, Lalloo, F, Ong, KR, Park, S-M, Searle, C, Side, L, Snape, K, Woodward, E, Tischkowitz, M, Grozeva, D, Kurian, MA, Themistocleous, AC, Gosal, D, Marshall, A, Matthews, E, McCarthy, MI, Renton, T, Rice, ASC, Vale, T, Walker, SM, Woods, CG, Thaventhiran, JE, Allen, HL, Savic, S, Alachkar, H, Antrobus, R, Baxendale, HE, Browning, MJ, Buckland, MS, Cooper, N, Edgar, JDM, Egner, W, Gilmour, KC, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Hayman, G, Herwadkar, A, Huissoon, AP, Jolles, S, Kelleher, P, Kumararatne, D, Longhurst, H, Lorenzo, LE, Lyons, PA, Maimaris, J, Noorani, S, Richter, A, Sargur, RB, Sewell, WAC, Thomas, D, Thomas, MJ, Worth, A, Yong, PFK, Kuijpers, TW, Thrasher, AJ, Levine, AP, Sadeghi-Alavijeh, O, Wong, EKS, Cook, HT, Chan, MMY, Hall, M, Harris, C, McAlinden, P, Marchbank, KJ, Marks, S, Maxwell, H, Mozere, M, Wessels, J, Johnson, SA, Bleda, M, Hadinnapola, C, Haimel, M, Swietlik, E, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P, Danesino, C, Eyries, M, Gall, H, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Holden, S, Houweling, A, Howard, LS, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A, Pepke-Zaba, J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M, Treacy, C, Trembath, R, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Wilkins, MR, Wort, SJ, Graf, S, Louka, E, Roy, NB, Rao, A, Ancliff, P, Babbs, C, Layton, DM, Mead, AJ, O'Sullivan, J, Okoli, S, Saleem, M, Bierzynska, A, Diz, CB, Colby, E, Ekani, MN, Satchell, S, Fowler, T, Rendon, A, Scott, R, Smedley, D, Thomas, E, Caulfield, M, Abbs, S, Burrows, N, Chitre, M, Gattens, M, Gurnell, M, Kelsall, W, Poole, KES, Ross-Russell, R, Spasic-Boskovic, O, Twiss, P, Wagner, A, Banka, S, Clayton-Smith, J, Douzgou, S, Abulhoul, L, Aurora, P, Bockenhauer, D, Cleary, M, Dattani, M, Ganesan, V, Pilkington, C, Rahman, S, Shah, N, Wedderburn, L, Compton, CJ, Deshpande, C, Fassihi, H, Haque, E, Josifova, D, Mohammed, SN, Robert, L, Rose, SJ, Ruddy, DM, Sarkany, RN, Sayer, G, Shaw, AC, Campbell, C, Gibson, K, Koelling, N, Lester, T, Nemeth, AH, Palles, C, Patel, S, Sen, A, Taylor, J, Tomlinson, IP, Malka, S, Browning, AC, Burn, J, De Soyza, A, Graham, J, Pearce, S, Quinton, R, Schaefer, AM, Wilson, BT, Wright, M, Simpson, M, Syrris, P, Bradley, JR, Turro, E

Publikováno v: NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot & Daniels, M J 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science (New York, N.Y.), vol. 364, no. 6442 . https://doi.org/10.1126/science.aau6520
Science, 364(6442). American Association for the Advancement of Science
Science
Tomlinson, I 2019, ' Germline selection shapes human mitochondrial DNA diversity ', Science, vol. 364, no. 6442, pp. 749-+ . https://doi.org/10.1126/science.aau6520

INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd0acfee6b4573c8d6320d0057b56790

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Autor: Stefanucci L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Collins J; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Sims MC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield, United Kingdom.; Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom., Barrio-Hernandez I; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Sun L; Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom., Burren OS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Perfetto L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.; Department of Biology and Biotechnology 'C.Darwin,' Sapienza University of Rome, Rome, Italy., Bender I; Department of Biochemistry, University of Oxford, Oxford, United Kingdom., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY., Fleming K; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom., Guerrero JA; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Hermjakob H; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Martin MJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Stephenson J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Paneerselvam K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Petrovski S; Centre for Genomics Research, Discovery Sciences, AstraZeneca, Cambridge, United Kingdom.; Department of Medicine, Austin Health, The University of Melbourne, Melbourne, Australia., Porras P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT.; Institute for Systems Genomics, University of Connecticut, Farmington, CT., Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Watkins X; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Frontini M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences RILD Building, University of Exeter Medical School, Exeter, United Kingdom., Laskowski RA; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Beltrao P; Institute of Molecular Systems Biology, ETH Zürich, Zürich, Switzerland., Di Angelantonio E; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.; Heart and Lung Research Institute, University of Cambridge, Cambridge, United Kingdom.; NIHR Blood and Transplant Research Unit in Donor Health and Behaviour, Cambridge, United Kingdom.; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, United Kingdom.; Health Data Science Centre, Human Technopole, Milan, Italy., Gomez K; Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, United Kingdom., Laffan M; Department of Haematology, Imperial College Healthcare NHS Trust, London, United Kingdom.; Department of Immunology and Inflammation, Centre for Haematology, Imperial College London, London, United Kingdom., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University College London Hospitals NHS Trust, London, United Kingdom., Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KULeuven, Leuven, Belgium., Carss K; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Cambridge Genomics Laboratory, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Bruford E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Vuckovic D; Department of Epidemiology and Biostatistics, Imperial College London, London, United Kingdom.

Publikováno v: Blood [Blood] 2023 Dec 14; Vol. 142 (24), pp. 2055-2068.

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Autor: Sims MC; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom., Mayer L; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Collins JH; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Bariana TK; Department of Haematology, University of Cambridge, and.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom.; Royal Free London NHS Foundation Trust, London, United Kingdom., Megy K; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Lavenu-Bombled C; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France., Seyres D; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Kollipara L; Leibniz-Institut für Analytische Wissenschaften-ISAS-e. V., Dortmund, Germany., Burden FS; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Greene D; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom., Lee D; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Rodriguez-Romera A; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Alessi MC; Centre for CardioVascular and Nutrition Research, INSERM 1263, INRAE 1260, Marseille, France., Astle WJ; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom., Bahou WF; Department of Medicine, Stony Brook University, Stony Brook, NY., Bury L; Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Chalmers E; Royal Hospital for Sick Children, Glasgow, United Kingdom., Da Silva R; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., De Candia E; Institute of Internal Medicine and Geriatrics, Catholic University School of Medicine, Rome, Italy.; Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy., Deevi SVV; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Farrow S; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gomez K; Royal Free London NHS Foundation Trust, London, United Kingdom., Grassi L; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Greinacher A; Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany., Gresele P; Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Hart D; The Royal London Hospital Haemophilia Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Hurtaud MF; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France., Kelly AM; Department of Haematology, University of Cambridge, and., Kerr R; Department of Haematology, Ninewells Hospital and Medical School, Dundee, United Kingdom., Le Quellec S; Service d'Hématologie Biologique, Hospices Civils de Lyon, Lyon, France., Leblanc T; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France., Leinøe EB; Department of Haematology, Rigshospitalet, Copenhagen, Denmark., Mapeta R; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., McKinney H; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Michelson AD; Center for Platelet Research Studies, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA., Morais S; Serviço de Hematologia Clínica, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas, Universidade do Porto, Porto, Portugal., Nugent D; Center for Inherited Bleeding Disorders, Children's Hospital of Orange County, Orange, CA., Papadia S; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Park SJ; Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA., Pasi J; The Royal London Hospital Haemophilia Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Podda GM; Unità di Medicina 2, ASST Santi Paolo e Carlo, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy., Poon MC; University of Calgary Cumming School of Medicine and Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Calgary, AB, Canada., Reed R; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Sekhar M; Department of Haematology, Royal Free London NHS Trust, London, United Kingdom., Shalev H; Department of Pediatric Hematology/Oncology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel., Sivapalaratnam S; Department of Haematology, University of Cambridge, and.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Steinberg-Shemer O; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Stephens JC; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Tait RC; Department of Haematology, Royal Infirmary, Glasgow, United Kingdom., Turro E; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Forvie Site, Cambridge Biomedical Campus, Cambridge, United Kingdom., Wu JKM; Division of Hematology-Oncology, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Zieger B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Sanquin Research Institute, Department of Blood Cell Research, University of Amsterdam, Amsterdam, The Netherlands., Whetton AD; Stoller Biomarker Discovery Centre, Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Sickmann A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e. V., Dortmund, Germany.; Department of Chemistry, College of Physical Sciences, University of Aberdeen, Aberdeen, United Kingdom.; Medizinische Fakultät, Medizinisches Proteom Center, Ruhr-Universität Bochum, Bochum, Germany., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Downes K; Department of Haematology, University of Cambridge, and.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Erber WN; Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Australia.; PathWest Laboratory Medicine, The University of Western Australia, Nedlands, Australia., Frontini M; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, Cambridge Centre for Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Nurden P; Institut Hospitalo-Universitaire L'Institut de Rythmologie et Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France., Ouwehand WH; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and., Favier R; Assistance Publique-Hôpitaux de Paris, Centre de Reference des Pathologies Plaquettaires, Hôpitaux Armand Trousseau, Bicêtre, Robert Debré, Paris, France.; INSERM Unité Mixte de Recherche 1170, Gustave Roussy Cancer Campus, Universite Paris-Saclay, Villejuif, France., Guerrero JA; Department of Haematology, University of Cambridge, and.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.

Publikováno v: Blood [Blood] 2020 Oct 22; Vol. 136 (17), pp. 1956-1967.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Autor: Lentaigne C; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.; Imperial College Healthcare National Health Service (NHS) Trust, London, United Kingdom.; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Greene D; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom., Sivapalaratnam S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom., Favier R; Assistance Publique-Hôpitaux de Paris, French Reference Center for Inherited Platelet Disorders, Armand Trousseau Children's Hospital, Paris, France.; INSERM UMR 1170, Gustave Roussy Institute, Villejuif, France., Seyres D; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Grassi L; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Mangles S; Department of Haematology, Hampshire Hospitals NHS Foundation Trust, Basingstoke, United Kingdom., Sibson K; Haemophilia, Haemostasis and Thrombosis Centre, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom., Stubbs M; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom., Burden F; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Bordet JC; Hemostasis Laboratory, Biology Center, Hospices Civils de Lyon, Bron, France., Armari-Alla C; Paediatric Oncology Hematology Unit, Michalon Hospital, La Tronche, France., Erber W; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; School of Biomedical Science, University of Western Australia, Crawley, WA, Australia.; PathWest Laboratory Medicine, Nedlands, WA, Australia., Farrow S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gleadall N; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gomez K; Katharine Dormandy Haemophilia Centre and Thrombosis Unit, The Royal Free Hospital, London, United Kingdom., Megy K; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Papadia S; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Penkett CJ; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Sims MC; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom., Stefanucci L; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Stephens JC; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Read RJ; Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Stirrups KE; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Ouwehand WH; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and., Laffan MA; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom.; Imperial College Healthcare National Health Service (NHS) Trust, London, United Kingdom., Frontini M; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation Centre of Excellence, Cambridge Biomedical Campus, Cambridge, United Kingdom., Freson K; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Turro E; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.

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