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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

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Title: Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Authors: Bariana TK; Department of Haematology, University College London, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Labarque V; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Heremans J; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Thys C; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., De Reys M; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Jenkins B; NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK., Grassi L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Seyres D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Burden F; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Whitehorn D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Shamardina O; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Papadia S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK., Gomez K; Department of Haematology, University College London, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., BioResource N; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Van Geet C; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium., Koulman A; NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Ghevaert C; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Frontini M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK., Freson K; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK kathleen.freson@med.kuleuven.be.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.
Source: Haematologica [Haematologica] 2019 May; Vol. 104 (5), pp. 1036-1045. Date of Electronic Publication: 2018 Nov 22.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE
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  Data: Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
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  Data: <searchLink fieldCode="AU" term="%22Bariana+TK%22">Bariana TK</searchLink>; Department of Haematology, University College London, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Labarque+V%22">Labarque V</searchLink>; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Heremans+J%22">Heremans J</searchLink>; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Thys+C%22">Thys C</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Reys+M%22">De Reys M</searchLink>; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Greene+D%22">Greene D</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Jenkins+B%22">Jenkins B</searchLink>; NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Grassi+L%22">Grassi L</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Seyres+D%22">Seyres D</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Burden+F%22">Burden F</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Whitehorn+D%22">Whitehorn D</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Shamardina+O%22">Shamardina O</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Papadia+S%22">Papadia S</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Gomez+K%22">Gomez K</searchLink>; Department of Haematology, University College London, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22BioResource+N%22">BioResource N</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Van+Geet+C%22">Van Geet C</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Koulman+A%22">Koulman A</searchLink>; NIHR Biomedical Research Centre Core Metabolomics and Lipidomics Laboratory, University of Cambridge, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Ouwehand+WH%22">Ouwehand WH</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Ghevaert+C%22">Ghevaert C</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Frontini+M%22">Frontini M</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Turro+E%22">Turro E</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, UK.; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Freson+K%22">Freson K</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK kathleen.freson@med.kuleuven.be.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Belgium.
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  Data: <searchLink fieldCode="JN" term="%220417435%22">Haematologica</searchLink> [Haematologica] 2019 May; Vol. 104 (5), pp. 1036-1045. <i>Date of Electronic Publication: </i>2018 Nov 22.
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