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@ARTICLE{McLoughlin:304246,
      author       = {M. A. McLoughlin and S. Cheloor Kovilakam and W. G. Dunn
                      and M. Gu and J. Tobin and Y. Pershad and N. Williams and D.
                      Leongamornlert and K. Dawson and L. Bond and L. Marando and
                      S. Wen and R. Wilson and G. Valenzano and V. Symeonidou and
                      J. Rak and A. Damaskou and M. Gozdecka and X. Liu and C.
                      Barcena and J. Nomdedeu and P. Costeas and I. D. Dimitriou
                      and E. Fiorillo and V. Orrù and J. G. de Almeida and T.
                      McKerrell and M. Cullen and I. Mohorianu and T. Foukaneli
                      and A. J. Warren and C. Wong and G. Follows and A. L.
                      Godfrey and E. Gudgin and F. Cucca and E. McKinney and E. J.
                      Baxter and M. Gerstung$^*$ and J. Mitchell and D. Wiseman
                      and A. G. Bick and M. Fabre and P. M. Quiros and J. Nangalia
                      and S. Kar and G. S. Vassiliou},
      title        = {{T}elomere attrition becomes an instrument for clonal
                      selection in aging hematopoiesis and leukemogenesis.},
      journal      = {Nature genetics},
      volume       = {nn},
      issn         = {1061-4036},
      address      = {London},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DKFZ-2025-01800},
      pages        = {nn},
      year         = {2025},
      note         = {epub},
      abstract     = {The mechanisms through which mutations in splicing factor
                      genes drive clonal hematopoiesis (CH) and myeloid
                      malignancies, and their close association with advanced age,
                      remain poorly understood. Here we show that telomere
                      maintenance plays an important role in this phenomenon.
                      First, by studying 454,098 UK Biobank participants, we find
                      that, unlike most CH subtypes, splicing-factor-mutant CH is
                      more common in those with shorter genetically predicted
                      telomeres, as is CH with mutations in PPM1D and the TERT
                      gene promoter. We go on to show that telomere attrition
                      becomes an instrument for clonal selection in advanced age,
                      with splicing factor mutations 'rescuing' HSCs from critical
                      telomere shortening. Our findings expose the lifelong
                      influence of telomere maintenance on hematopoiesis and
                      identify a potential shared mechanism through which
                      different splicing factor mutations drive leukemogenesis.
                      Understanding the mechanistic basis of these observations
                      can open new therapeutic avenues against
                      splicing-factor-mutant CH and hematological or other
                      cancers.},
      cin          = {B450},
      ddc          = {570},
      cid          = {I:(DE-He78)B450-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40877435},
      doi          = {10.1038/s41588-025-02296-x},
      url          = {https://inrepo02.dkfz.de/record/304246},
}