Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.

Canault, Matthias; Ghalloussi, Dorsaf; Grosdidier, Charlotte; Guinier, Marie; Perret, Claire; Chelghoum, Nadjim; Germain, Marine; Raslova, Hana; Peiretti, Franck; Morange, Pierre E; Saut, Noemie; Pillois, Xavier; Nurden, Alan T; Cambien, François; Pierres, Anne; van den Berg, Timo K; Kuijpers, Taco W; Alessi, Marie-Christine; Tregouet, David-Alexandre

Canault, Matthias; Ghalloussi, Dorsaf; Grosdidier, Charlotte; Guinier, Marie; Perret, Claire; Chelghoum, Nadjim; Germain, Marine; Raslova, Hana; Peiretti, Franck; Morange, Pierre E; Saut, Noemie; Pillois, Xavier; Nurden, Alan T; Cambien, François; Pierres, Anne; van den Berg, Timo K; Kuijpers, Taco W; Alessi, Marie-Christine; Tregouet, David-Alexandre.

Afiliação

Canault M; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France.
Ghalloussi D; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France.
Grosdidier C; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France.
Guinier M; Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France.
Perret C; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1166, F-75013 Paris, France Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France ICAN Institute for Cardiometabolism and Nutrition, F-75013 Paris, France.
Chelghoum N; Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France.
Germain M; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1166, F-75013 Paris, France Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France ICAN Institute for Cardiometabolism and Nutrition, F-75013 Paris, France.
Raslova H; Hématopoïèse Normale et Pathologique, Inserm Médicale U1009, 94805 Villejuif, France.
Peiretti F; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France.
Morange PE; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France.
Saut N; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France.
Pillois X; LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France Inserm, UMR_1034, 33600 Pessac, France.
Nurden AT; Inserm, UMR_1034, 33600 Pessac, France.
Cambien F; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1166, F-75013 Paris, France Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France ICAN Institute for Cardiometabolism and Nutrition, F-75013 Paris, France.
Pierres A; Aix Marseille Université, 13005 Marseille, France Inserm, UMR_1067, 13288 Marseille, France CNRS UMR_7333, 13288 Marseille, France.
van den Berg TK; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, Netherlands.
Kuijpers TW; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, Netherlands.
Alessi MC; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France marie-christine.alessi@univ-amu.fr.
Tregouet DA; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 1166, F-75013 Paris, France Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France ICAN Institute for Cardiometabolism and Nutrition, F-75013 Paris, France.

J Exp Med ; 211(7): 1349-62, 2014 Jun 30.

Article em En | MEDLINE | ID: mdl-24958846

Assuntos

Transtornos Herdados da Coagulação Sanguínea; Plaquetas; Fatores de Troca do Nucleotídeo Guanina; Hemorragia; Mutação; Agregação Plaquetária/genética; Difosfato de Adenosina/genética; Difosfato de Adenosina/metabolismo; Transtornos Herdados da Coagulação Sanguínea/genética; Transtornos Herdados da Coagulação Sanguínea/metabolismo; Transtornos Herdados da Coagulação Sanguínea/patologia; Plaquetas/metabolismo; Plaquetas/patologia; Linhagem Celular; Feminino; Fatores de Troca do Nucleotídeo Guanina/genética; Fatores de Troca do Nucleotídeo Guanina/metabolismo; Guanosina Trifosfato/genética; Guanosina Trifosfato/metabolismo; Hemorragia/genética; Hemorragia/metabolismo; Hemorragia/patologia; Heterozigoto; Homozigoto; Humanos; Masculino; Megacariócitos/metabolismo; Megacariócitos/patologia; Proteínas de Membrana/genética; Proteínas de Membrana/metabolismo; Proteínas de Neoplasias/genética; Proteínas de Neoplasias/metabolismo; Complexo Glicoproteico GPIIb-IIIa de Plaquetas; Proteína Quinase C/genética; Proteína Quinase C/metabolismo; Complexo Shelterina; Proteínas de Ligação a Telômeros/genética; Proteínas de Ligação a Telômeros/metabolismo

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Plaquetas / Agregação Plaquetária / Fatores de Troca do Nucleotídeo Guanina / Transtornos Herdados da Coagulação Sanguínea / Hemorragia / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: J Exp Med Ano de publicação: 2014 Tipo de documento: Article País de afiliação: França

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