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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

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Title: EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Authors: Tan S; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom., Kermasson L; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Hoslin A; Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom., Jaako P; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom., Faille A; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom., Acevedo-Arozena A; Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom.; Unidad de Investigación, Hospital Universitario de Canarias, La Laguna, Spain.; Instituto de Tecnologías Biomédicas, Universidad de La Laguna, La Laguna, Spain.; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, La Laguna, Spain., Lengline E; Department of Hematology, CRNMR Aplasie Médullaire, Saint-Louis University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Ranta D; Department of Haematology, Centre Hospitalier Universitaire de Nancy, Nancy, France., Poirée M; Department of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Lenval, Nice, France., Fenneteau O; Assistance Publique-Hôpitaux de Paris, Laboratory of Hematology, Robert Debré University Hospital, Paris, France., Ducou le Pointe H; Radiology Department, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Department of Pediatric Imaging, Armand Trousseau Hospital, Sorbonne Universités, Pierre et Marie Curie-Paris University, Paris, France., Fumagalli S; Institut Necker Enfants Malades, Paris, France.; INSERM, U1151, Université Paris Descartes Sorbonne Cité, Paris, France., Beaupain B; French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital, Paris, France., Nitschké P; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Bôle-Feysot C; INSERM Unité Mixte de Recherche 1163, Genomics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., de Villartay JP; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Bellanné-Chantelot C; Department of Genetics, Hospital Pitié Salpétriére Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France., Donadieu J; Service d'Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques, Paris, France., Kannengiesser C; Assistance Publique-Hôpitaux de Paris Service de Génétique, Hôpital Bichat, Paris, France; and.; Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Warren AJ; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom., Revy P; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Source: Blood [Blood] 2019 Jul 18; Vol. 134 (3), pp. 277-290. Date of Electronic Publication: 2019 May 31.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Tan+S%22">Tan S</searchLink>; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kermasson+L%22">Kermasson L</searchLink>; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hoslin+A%22">Hoslin A</searchLink>; Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jaako+P%22">Jaako P</searchLink>; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Faille+A%22">Faille A</searchLink>; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Acevedo-Arozena+A%22">Acevedo-Arozena A</searchLink>; Medical Research Council Mammalian Genetics Unit, Harwell, United Kingdom.; Unidad de Investigación, Hospital Universitario de Canarias, La Laguna, Spain.; Instituto de Tecnologías Biomédicas, Universidad de La Laguna, La Laguna, Spain.; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, La Laguna, Spain.<br /><searchLink fieldCode="AU" term="%22Lengline+E%22">Lengline E</searchLink>; Department of Hematology, CRNMR Aplasie Médullaire, Saint-Louis University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ranta+D%22">Ranta D</searchLink>; Department of Haematology, Centre Hospitalier Universitaire de Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Poirée+M%22">Poirée M</searchLink>; Department of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Lenval, Nice, France.<br /><searchLink fieldCode="AU" term="%22Fenneteau+O%22">Fenneteau O</searchLink>; Assistance Publique-Hôpitaux de Paris, Laboratory of Hematology, Robert Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ducou+le+Pointe+H%22">Ducou le Pointe H</searchLink>; Radiology Department, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Department of Pediatric Imaging, Armand Trousseau Hospital, Sorbonne Universités, Pierre et Marie Curie-Paris University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fumagalli+S%22">Fumagalli S</searchLink>; Institut Necker Enfants Malades, Paris, France.; INSERM, U1151, Université Paris Descartes Sorbonne Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Beaupain+B%22">Beaupain B</searchLink>; French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nitschké+P%22">Nitschké P</searchLink>; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bôle-Feysot+C%22">Bôle-Feysot C</searchLink>; INSERM Unité Mixte de Recherche 1163, Genomics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Villartay+JP%22">de Villartay JP</searchLink>; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bellanné-Chantelot+C%22">Bellanné-Chantelot C</searchLink>; Department of Genetics, Hospital Pitié Salpétriére Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Donadieu+J%22">Donadieu J</searchLink>; Service d'Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kannengiesser+C%22">Kannengiesser C</searchLink>; Assistance Publique-Hôpitaux de Paris Service de Génétique, Hôpital Bichat, Paris, France; and.; Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Warren+AJ%22">Warren AJ</searchLink>; Cambridge Institute for Medical Research, Cambridge, United Kingdom.; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Revy+P%22">Revy P</searchLink>; INSERM Unité Mixte de Recherche 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le cancer, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
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