PLATELETS AND THROMBOPOIESIS Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
نویسندگان
چکیده
Meral Gunay-Aygun,1,2 Yifat Zivony-Elboum,3 Fatma Gumruk,4 Dan Geiger,5 Mualla Cetin,4 Morad Khayat,3 Robert Kleta,1 Nehama Kfir,3 Yair Anikster,1 Judith Chezar,6 Mauricio Arcos-Burgos,1 Adel Shalata,3 Horia Stanescu,1 Joseph Manaster,6 Mutlu Arat,7 Hailey Edwards,1 Andrew S. Freiberg,8 P. Suzanne Hart,1 Lauren C. Riney,1 Katherine Patzel,1 Pranoot Tanpaiboon,1 Tom Markello,1 Marjan Huizing,1 Irina Maric,9 McDonald Horne,9 Beate E. Kehrel,10 Kerstin Jurk,10 Nancy F. Hansen,11 Praveen F. Cherukuri,11,12 Marypat Jones,11 Pedro Cruz,11 Jim C. Mullikin,11 Alan Nurden,13 James G. White,14 William A. Gahl,1 and Tzippora Falik-Zaccai3,15
منابع مشابه
Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.
Linkage analysis was performed on a large pedigree with an autosomal dominant platelet disorder and a striking propensity in affected family members to develop hematologic malignancy, predominantly acute myelogenous leukemia. We report the linkage of the autosomal dominant platelet disorder to markers on chromosome 21q22. Four genetic markers completely cosegregate with the trait and yield maxi...
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BACKGROUND Thrombocytopenia is a common finding during viral hemorrhagic fever, which includes hemorrhagic fever with renal syndrome (HFRS). The 2 main causes for thrombocytopenia are impaired thrombopoiesis and/or increased peripheral destruction of platelets. In addition, there is an increased intravascular coagulation risk during HFRS, which could be due to platelet activation. METHODS Thr...
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Gray platelet syndrome (GPS) is an inherited bleeding disorder associated with macrothrombocytopenia and α-granule-deficient platelets. GPS has been linked to loss of function mutations in NBEAL2 (neurobeachin-like 2), and we describe here a murine GPS model, the Nbeal2 mouse. As in GPS, Nbeal2 mice exhibit splenomegaly, macrothrombocytopenia and a deficiency of platelet α-granules and their ca...
متن کاملRegular Article PLATELETS AND THROMBOPOIESIS Gray platelet syndrome: proinflammatory megakaryocytes and a-granule loss cause myelofibrosis and confer metastasis resistance in mice
Department of Haematology, University of Cambridge, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom; Institut HospitaloUniversitaire L’Institut de Rythmologie et Modélisation Cardiaque, Hopital Xavier Arnozan, Pessac, France; and Pathology a...
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Platelets are heterogeneous with respect to their size, density, and reactivity. Large platelets are more active hemostatically, and platelet volume has been found to be increased both in patients with unstable angina and with myocardial infarction. Furthermore, platelet volume is a predictor of a further ischemic event and death when measured after myocardial infarction. Platelets which are an...
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