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SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.
Schürch, Christoph; Schaefer, Thorsten; Müller, Joëlle S; Hanns, Pauline; Arnone, Marlon; Dumlin, Alain; Schärer, Jonas; Sinning, Irmgard; Wild, Klemens; Skokowa, Julia; Welte, Karl; Carapito, Raphael; Bahram, Seiamak; Konantz, Martina; Lengerke, Claudia.
Afiliação
  • Schürch C; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Schaefer T; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Müller JS; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Hanns P; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Arnone M; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Dumlin A; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Schärer J; Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Sinning I; Heidelberg University Biochemistry Center, Heidelberg, Germany.
  • Wild K; Heidelberg University Biochemistry Center, Heidelberg, Germany.
  • Skokowa J; Department of Internal Medicine, Hematology, Oncology, Clinical Immunology and Rheumatology, University Hospital Tübingen, Tübingen, Germany.
  • Welte K; Department of Internal Medicine, Hematology, Oncology, Clinical Immunology and Rheumatology, University Hospital Tübingen, Tübingen, Germany.
  • Carapito R; Laboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM Unité Mixte de Recherche en Santé (UMR_S) 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, and.
  • Bahram S; LabEx TRANSPLANTEX, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
  • Konantz M; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Strasbourg, France; and.
  • Lengerke C; Laboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM Unité Mixte de Recherche en Santé (UMR_S) 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg, and.
Blood ; 137(10): 1340-1352, 2021 03 11.
Article em En | MEDLINE | ID: mdl-33227812
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Partícula de Reconhecimento de Sinal / Proteínas de Peixe-Zebra / Proteína 1 de Ligação a X-Box / Síndrome Congênita de Insuficiência da Medula Óssea / Neutropenia Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Partícula de Reconhecimento de Sinal / Proteínas de Peixe-Zebra / Proteína 1 de Ligação a X-Box / Síndrome Congênita de Insuficiência da Medula Óssea / Neutropenia Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article