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A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.
Stockklausner, Clemens; Raffel, Simon; Klermund, Julia; Bandapalli, Obul Reddy; Beier, Fabian; Brümmendorf, Tim H; Bürger, Friederike; Sauer, Sven W; Hoffmann, Georg F; Lorenz, Holger; Tagliaferri, Laura; Nowak, Daniel; Hofmann, Wolf-Karsten; Buergermeister, Rebecca; Kerber, Carolin; Rausch, Tobias; Korbel, Jan O; Luke, Brian; Trumpp, Andreas; Kulozik, Andreas E.
Afiliação
  • Stockklausner C; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg and Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany.
  • Raffel S; Division of Stem Cells and Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
  • Klermund J; Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM gGmbH), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
  • Bandapalli OR; German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.
  • Beier F; Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany.
  • Brümmendorf TH; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg and Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany.
  • Bürger F; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty of the RWTH Aachen University, 52062 Aachen, Germany.
  • Sauer SW; Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty of the RWTH Aachen University, 52062 Aachen, Germany.
  • Hoffmann GF; Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Lorenz H; Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Tagliaferri L; Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Nowak D; Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany.
  • Hofmann WK; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg and Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany.
  • Buergermeister R; Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, 68167 Mannheim, Germany.
  • Kerber C; Department of Hematology and Oncology, University Hospital Mannheim, Medical Faculty Mannheim of the University of Heidelberg, 68167 Mannheim, Germany.
  • Rausch T; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg and Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany.
  • Korbel JO; Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany.
  • Luke B; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg and Molecular Medicine Partnership Unit, 69120 Heidelberg, Germany.
  • Trumpp A; European Molecular Biology Laboratory (EMBL), Genomics Core Facility, D 69117 Heidelberg, Germany.
  • Kulozik AE; European Molecular Biology Laboratory (EMBL), Genome Biology Unit and Molecular Medicine Partnership Unit, D 69117 Heidelberg, Germany.
Aging (Albany NY) ; 7(11): 911-27, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26546739
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Hematopoéticas / Senescência Celular / Telomerase / Antígenos CD34 / Disceratose Congênita / Sirolimo / Serina-Treonina Quinases TOR / Mutação Limite: Animals / Female / Humans Idioma: En Revista: Aging (Albany NY) Assunto da revista: GERIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Hematopoéticas / Senescência Celular / Telomerase / Antígenos CD34 / Disceratose Congênita / Sirolimo / Serina-Treonina Quinases TOR / Mutação Limite: Animals / Female / Humans Idioma: En Revista: Aging (Albany NY) Assunto da revista: GERIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha