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@ARTICLE{SanzMoreno:277989,
      author       = {Sanz-Moreno, Adrián and Becker, Lore and Xie, Kan and da
                      Silva-Buttkus, Patricia and Dragano, Nathalia R V and
                      Aguilar-Pimentel, Antonio and Amarie, Oana V and
                      Calzada-Wack, Julia and Kraiger, Markus and Leuchtenberger,
                      Stefanie and Seisenberger, Claudia and Marschall, Susan and
                      Rathkolb, Birgit and Scifo, Enzo and Liu, Ting and
                      Thanabalasingam, Anoja and Sanchez-Vazquez, Raul and
                      Martinez, Paula and Blasco, Maria A and Savage, Sharon A and
                      Fuchs, Helmut and Ehninger, Dan and Gailus-Durner, Valérie
                      and de Angelis, Martin Hrabê},
      title        = {{L}oss of {T}en1 in mice induces telomere shortening and
                      models human dyskeratosis congenita.},
      journal      = {Science advances},
      volume       = {11},
      number       = {15},
      issn         = {2375-2548},
      address      = {Washington, DC [u.a.]},
      publisher    = {Assoc.},
      reportid     = {DZNE-2025-00516},
      pages        = {eadp8093},
      year         = {2025},
      abstract     = {Telomere length regulation is essential for genome
                      stability as short telomeres can trigger cellular senescence
                      and apoptosis constituting an integral aspect of biological
                      aging. Telomere biology disorders (TBDs) such as
                      dyskeratosis congenita (DC) are rare, inherited diseases
                      with known mutations in at least 16 different genes encoding
                      components of the telomere maintenance complexes. The
                      precise role of TEN1, part of the CST complex (CTC1, STN1,
                      and TEN1), and the consequences of its loss of function in
                      vivo are not yet known. We investigated the first viable
                      murine model of Ten1 deficiency created by
                      CRISPR-Cas9-mediated exon 3 deletion. Ten1 homozygous
                      knockout mice present with telomere attrition, short life
                      span, skin hyperpigmentation, aplastic anemia, and
                      cerebellar hypoplasia. Molecular analyses revealed a
                      reduction of proliferating cells, increased apoptosis, and
                      stem cell depletion with activation of the p53/p21 signaling
                      pathway. Our data demonstrate that Ten1 deficiency causes
                      telomere shortening and associates with accelerated aging.},
      keywords     = {Animals / Dyskeratosis Congenita: genetics / Dyskeratosis
                      Congenita: pathology / Dyskeratosis Congenita: metabolism /
                      Mice / Telomere Shortening: genetics / Disease Models,
                      Animal / Mice, Knockout / Humans / Apoptosis: genetics /
                      Tumor Suppressor Protein p53: metabolism / Telomere:
                      genetics / Telomere: metabolism / Telomere-Binding Proteins:
                      genetics / Telomere-Binding Proteins: deficiency / Signal
                      Transduction / Tumor Suppressor Protein p53 (NLM Chemicals)
                      / Telomere-Binding Proteins (NLM Chemicals)},
      cin          = {AG Ehninger},
      ddc          = {500},
      cid          = {I:(DE-2719)1013005},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40215293},
      pmc          = {pmc:PMC11988282},
      doi          = {10.1126/sciadv.adp8093},
      url          = {https://pub.dzne.de/record/277989},
}