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p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes

6 Oct 2023

Abstract excerpt

Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance. Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and alter hematopoiesis, but also revealed features of Diamond–Blackfan anemia (DBA) or Fanconi...

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PMID: 37834388
DOI: 10.3390/ijms241914940

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