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@ARTICLE{FernandezOrth:301756,
      author       = {J. Fernandez-Orth and C. Koyunlar and J. M. Weiss and E.
                      Gioacchino and H. de Looper and G. Andrieux and M. Ter Borg
                      and J. Zink and I. Gonzalez-Menendez and R. Hoogenboezem and
                      B. Yigit and K. J. Gussinklo and R. Mulet-Lazaro and C.
                      Wantzen and S. Pfeiffer and C. Molnar and E. Bindels and S.
                      Bohler and M. Sanders and L. Quintanilla-Martinez and M.
                      Wlodarski and M. Boerries$^*$ and I. P. Touw and C. Niemeyer
                      and M. Erlacher and E. de Pater},
      title        = {{H}ematological phenotypes in {GATA}2 deficiency syndrome
                      arise from aging, maladaptation to proliferation, and
                      somatic events.},
      journal      = {Blood advances},
      volume       = {9},
      number       = {11},
      issn         = {2473-9529},
      address      = {Washington, DC},
      publisher    = {American Society of Hematology},
      reportid     = {DKFZ-2025-01140},
      pages        = {2794 - 2807},
      year         = {2025},
      abstract     = {The GATA2 transcription factor is a pivotal regulator of
                      hematopoiesis. Disruptions in the GATA2 gene drive severe
                      hematologic abnormalities and are associated with an
                      increased risk of myelodysplastic syndromes and acute
                      myeloid leukemia; however, the mechanisms underlying the
                      pathophysiology of GATA2 deficiency still remain unclear. We
                      developed 2 different mouse models that are based on serial
                      and limiting donor-cell transplantation of (14-15 months)
                      GATA2 haploinsufficient cells and mirror the symptoms of
                      GATA2 deficiency. Similar to what has been observed in
                      patients, our models showed that GATA2 haploinsufficiency
                      leads to B lymphopenia, monocytopenia, lethal bone marrow
                      failure (BMF), myelodysplasia, and lymphoblastic leukemia.
                      Leukemia arises exclusively because of BMF, driven by
                      somatic aberrations and accompanied by increased Myc target
                      expression and genomic instability. These findings were
                      confirmed in human GATA2+/- K562 cell lines showing defects
                      in cytokinesis and are in line with the fact that monosomy 7
                      and trisomy 8 are frequent events in patients with
                      myelodysplastic syndrome.},
      keywords     = {Animals / Mice / Humans / GATA2 Transcription Factor:
                      genetics / GATA2 Transcription Factor: deficiency / GATA2
                      Deficiency: genetics / GATA2 Deficiency: pathology /
                      Phenotype / Cell Proliferation / Myelodysplastic Syndromes:
                      genetics / Myelodysplastic Syndromes: pathology /
                      Haploinsufficiency / Aging: genetics / Disease Models,
                      Animal / K562 Cells / GATA2 Transcription Factor (NLM
                      Chemicals) / GATA2 protein, human (NLM Chemicals)},
      cin          = {FR01},
      ddc          = {610},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40138552},
      doi          = {10.1182/bloodadvances.2024015106},
      url          = {https://inrepo02.dkfz.de/record/301756},
}