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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

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Title: Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Authors: Poggi M; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Canault M; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Favier M; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.; Inserm U1170, Gustave Roussy, University Paris Sud, Equipe labellisée Ligue contre le Cancer 94805 Villejuif, France., Turro E; Department of Haematology and National Health Service Blood & Transplant, Cambridge University, UK.; MRC Biostatistics Unit, Cambridge, UK., Saultier P; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Ghalloussi D; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Baccini V; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Vidal L; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Mezzapesa A; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Chelghoum N; Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France., Mohand-Oumoussa B; Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France., Falaise C; French Reference-Center on Inherited Platelet Disorders, Marseille, France., Favier R; Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France., Ouwehand WH; Department of Haematology and National Health Service Blood & Transplant, Cambridge University, UK.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Fiore M; French Reference-Center on Inherited Platelet Disorders, Marseille, France.; Laboratoire d'hématologie, CHU de Bordeaux, Pessac, France., Peiretti F; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Morange PE; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.; French Reference-Center on Inherited Platelet Disorders, Marseille, France., Saut N; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.; French Reference-Center on Inherited Platelet Disorders, Marseille, France., Bernot D; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France., Greinacher A; Institute for Immunology and Transfusion Medicine, University Medicine Greifswald, Germany., BioResource N; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, UK., Nurden AT; LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France., Nurden P; French Reference-Center on Inherited Platelet Disorders, Marseille, France.; LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Belgium., Trégouët DA; ICAN Institute of Cardiometabolism and Nutrition, F-75013 Paris, France.; Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France.; Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ Paris 06), UMR_S 1166, F-75013 Paris, France., Raslova H; Inserm U1170, Gustave Roussy, University Paris Sud, Equipe labellisée Ligue contre le Cancer 94805 Villejuif, France., Alessi MC; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France marie-christine.alessi@univ-amu.fr.; French Reference-Center on Inherited Platelet Disorders, Marseille, France.
Source: Haematologica [Haematologica] 2017 Feb; Vol. 102 (2), pp. 282-294. Date of Electronic Publication: 2016 Sep 23.
Publication Type: 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
Database: MEDLINE Ultimate
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  Data: Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
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  Data: <searchLink fieldCode="AU" term="%22Poggi+M%22">Poggi M</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Canault+M%22">Canault M</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Favier+M%22">Favier M</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.; Inserm U1170, Gustave Roussy, University Paris Sud, Equipe labellisée Ligue contre le Cancer 94805 Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Turro+E%22">Turro E</searchLink>; Department of Haematology and National Health Service Blood & Transplant, Cambridge University, UK.; MRC Biostatistics Unit, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Saultier+P%22">Saultier P</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Ghalloussi+D%22">Ghalloussi D</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Baccini+V%22">Baccini V</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Vidal+L%22">Vidal L</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Mezzapesa+A%22">Mezzapesa A</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Chelghoum+N%22">Chelghoum N</searchLink>; Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Mohand-Oumoussa+B%22">Mohand-Oumoussa B</searchLink>; Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Falaise+C%22">Falaise C</searchLink>; French Reference-Center on Inherited Platelet Disorders, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Favier+R%22">Favier R</searchLink>; Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ouwehand+WH%22">Ouwehand WH</searchLink>; Department of Haematology and National Health Service Blood & Transplant, Cambridge University, UK.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Fiore+M%22">Fiore M</searchLink>; French Reference-Center on Inherited Platelet Disorders, Marseille, France.; Laboratoire d'hématologie, CHU de Bordeaux, Pessac, France.<br /><searchLink fieldCode="AU" term="%22Peiretti+F%22">Peiretti F</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Morange+PE%22">Morange PE</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.; French Reference-Center on Inherited Platelet Disorders, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Saut+N%22">Saut N</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.; French Reference-Center on Inherited Platelet Disorders, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Bernot+D%22">Bernot D</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Greinacher+A%22">Greinacher A</searchLink>; Institute for Immunology and Transfusion Medicine, University Medicine Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22BioResource+N%22">BioResource N</searchLink>; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, UK.<br /><searchLink fieldCode="AU" term="%22Nurden+AT%22">Nurden AT</searchLink>; LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France.<br /><searchLink fieldCode="AU" term="%22Nurden+P%22">Nurden P</searchLink>; French Reference-Center on Inherited Platelet Disorders, Marseille, France.; LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France.<br /><searchLink fieldCode="AU" term="%22Freson+K%22">Freson K</searchLink>; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Trégouët+DA%22">Trégouët DA</searchLink>; ICAN Institute of Cardiometabolism and Nutrition, F-75013 Paris, France.; Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France.; Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ Paris 06), UMR_S 1166, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Raslova+H%22">Raslova H</searchLink>; Inserm U1170, Gustave Roussy, University Paris Sud, Equipe labellisée Ligue contre le Cancer 94805 Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Alessi+MC%22">Alessi MC</searchLink>; Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France marie-christine.alessi@univ-amu.fr.; French Reference-Center on Inherited Platelet Disorders, Marseille, France.
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  Data: <searchLink fieldCode="JN" term="%220417435%22">Haematologica</searchLink> [Haematologica] 2017 Feb; Vol. 102 (2), pp. 282-294. <i>Date of Electronic Publication: </i>2016 Sep 23.
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