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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug, Kaan; Järvinen, Päivi M; Salzer, Elisabeth; Racek, Tomas; Mönch, Sebastian; Garncarz, Wojciech; Gertz, E Michael; Schäffer, Alejandro A; Antonopoulos, Aristotelis; Haslam, Stuart M; Schieck, Lena; Puchalka, Jacek; Diestelhorst, Jana; Appaswamy, Giridharan; Lescoeur, Brigitte; Giambruno, Roberto; Bigenzahn, Johannes W; Elling, Ulrich; Pfeifer, Dietmar; Conde, Cecilia Domínguez; Albert, Michael H; Welte, Karl; Brandes, Gudrun; Sherkat, Roya; van der Werff Ten Bosch, Jutte; Rezaei, Nima; Etzioni, Amos; Bellanné-Chantelot, Christine; Superti-Furga, Giulio; Penninger, Josef M; Bennett, Keiryn L; von Blume, Julia; Dell, Anne; Donadieu, Jean; Klein, Christoph.
Afiliação
  • Boztug K; 1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. [2] Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Järvinen PM; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
  • Salzer E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Racek T; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
  • Mönch S; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
  • Garncarz W; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Gertz EM; Computational Biology Branch, National Center for Biotechnology Information, US National Institutes of Health, Bethesda, Maryland, USA.
  • Schäffer AA; Computational Biology Branch, National Center for Biotechnology Information, US National Institutes of Health, Bethesda, Maryland, USA.
  • Antonopoulos A; Department of Life Sciences, Imperial College London, London, UK.
  • Haslam SM; Department of Life Sciences, Imperial College London, London, UK.
  • Schieck L; Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
  • Puchalka J; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
  • Diestelhorst J; 1] Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany. [2] Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
  • Appaswamy G; Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
  • Lescoeur B; Department of Hematology, Hospital R Debré, Paris, France.
  • Giambruno R; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Bigenzahn JW; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Elling U; Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna, Austria.
  • Pfeifer D; Department of Hematology, Oncology and Stem Cell Transplantation, University Medical Center Freiburg, Freiburg, Germany.
  • Conde CD; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Albert MH; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
  • Welte K; Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany.
  • Brandes G; Department of Cell Biology, Hannover Medical School, Hannover, Germany.
  • Sherkat R; Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
  • van der Werff Ten Bosch J; Department of Pediatrics, Hospital of the Free University of Brussels, Brussels, Belgium.
  • Rezaei N; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Etzioni A; Division of Pediatrics and Immunology, Rappaport School of Medicine, Technion, Haifa, Israel.
  • Bellanné-Chantelot C; Genetics Department, AP-HP Pitié-Salpêtrière Hospital, Pierre and Marie Curie University, Paris, France.
  • Superti-Furga G; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • Penninger JM; Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna, Austria.
  • Bennett KL; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
  • von Blume J; Max Planck Institute of Biochemistry, Martinsried, Germany.
  • Dell A; Department of Life Sciences, Imperial College London, London, UK.
  • Donadieu J; Neutropenia Registry, Reference Center for Hereditary Immunodeficiencies, Pediatric Hematology, AP-HP, Armand Trousseau Children's Hospital, Paris, France.
  • Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Nat Genet ; 46(9): 1021-7, 2014 Sep.
Article em En | MEDLINE | ID: mdl-25129144

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células Mieloides / Proteínas de Membrana / Neutropenia Idioma: En Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Células Mieloides / Proteínas de Membrana / Neutropenia Idioma: En Ano de publicação: 2014 Tipo de documento: Article