Anaemia articles within Nature Communications

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  • Article
    | Open Access

    β-thalassemia is a prevalent genetic disorder causing severe anemia, with study of the underlying molecular defects impeded by paucity of suitable patient material. Here, the authors show that cellular model systems of βthalassemia can be used to identify new therapeutic targets and as screening platforms for new drugs and reagents.

    • Deborah E. Daniels
    • , Ivan Ferrer-Vicens
    •  & Jan Frayne

  • Article
    | Open Access

    While experts analyze cytomorphology to diagnose myelodysplastic syndromes, definitive diagnosis requires complementary information such as karyotype and molecular genetics testing. Here, the authors present a computational method that automatically detects, characterizes and helps identify blood cell characteristics associated with this group of diseases.

    • José Guilherme de Almeida
    • , Emma Gudgin
    •  & Moritz Gerstung

  • Article
    | Open Access

    Formaldehyde can trigger formation of interstrand crosslinks (ICLs) or DNA-protein crosslinks (DPCs) leading to genome instability. Here the authors show that EXO1 limits replication stress and DNA damage to counteract formaldehyde-induced genome instability.

    • Yuandi Gao
    • , Laure Guitton-Sert
    •  & Jean-Yves Masson

  • Article
    | Open Access

    Here, Liao and colleagues apply adenine base editor ABE8e and its PAM-less variant ABE8e-SpRY to β-thalassemia patient hematopoietic stem cells in the form of ribonucleoprotein complexes, resulting in efficient long-term editing and β-thalassemia alleviation.

    • Jiaoyang Liao
    • , Shuanghong Chen
    •  & Yuxuan Wu

  • Article
    | Open Access

    Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome that is associated with anemia. Here, the authors examine the role of Nemo-like kinase (NLK) in erythroid cells in the pathogenesis of DBA and as a potential target for therapy.

    • M. C. Wilkes
    • , K. Siva
    •  & K. M. Sakamoto

  • Article
    | Open Access

    Anemia has a global prevalence of over 2 billion people and is diagnosed via blood-based laboratory test. Here the authors describe a smartphone app that can estimate hemoglobin levels and detect anemia by analyzing pictures of fingernail beds taken with a smartphone and without the need of any external equipment.

    • Robert G. Mannino
    • , David R. Myers
    •  & Wilbur A. Lam

  • Article
    | Open Access

    P53 is regarded as the guardian of the genome, however it is known that mice with increased p53 activity display characteristics of dyskeratosis congenita. Here the authors show that increased p53 activity leads to the repression of telomere maintenance and DNA repair genes.

    • Sara Jaber
    • , Eléonore Toufektchan
    •  & Franck Toledo

  • Article
    | Open Access

    Fanconi anaemia is an inherited disorder characterised by developmental abnormalities, bone marrow failure and predisposition to cancer. Here the authors report a de novo mutation in the DNA repair gene Rad51in an atypical subtype of Fanconi anaemia.

    • Najim Ameziane
    • , Patrick May
    •  & Josephine C. Dorsman

  • Article |

    Fanconi anaemia (FA) is a genetic disease associated with low levels of blood stem cells. Here Liu et al.report an improved method to generate genetically corrected induced pluripotent stem cells from an FA patient, and perform a screening to identify drugs that improve their differentiation into blood stem cells.

    • Guang-Hui Liu
    • , Keiichiro Suzuki
    •  & Juan Carlos Izpisua Belmonte

  • Article |

    The conserved MHF1/MHF2 DNA-processing complex is essential for DNA repair in response to genotoxic stress. Here, Zhao et al.report the crystal structure of a human MHF–DNA complex that provides insight into how MHF recognizes branched DNA—a feature important for cellular resistance to DNA damage.

    • Qi Zhao
    • , Dorina Saro
    •  & Yong Xiong

  • Article |

    Kidney diseases often cause anaemia due to damage of renal erythropoietin-producing cells. Yamazaki et al. identify a new population of erythropoietin-producing cells in the renal cortex and outer medulla by establishing a mouse model for adult-onset erythropoietin-deficient anaemia.

    • Shun Yamazaki
    • , Tomokazu Souma
    •  & Masayuki Yamamoto

  • Article |

    Fanconi's anaemia is characterized by an inability to repair DNA damage and is associated with mutations in the Fanconi anaemia nuclear complex, which includes the protein FANCM. This study reports the crystal structures of a fragment of FANCM bound to the histone-fold-containing protein complex, MHF1–MHF2.

    • Yuyong Tao
    • , Changjiang Jin
    •  & Maikun Teng

  • Article
    | Open Access

    Post-translational modifications are important in regulating protein function and turnover, and Ufm1 is part of a recently identified protein modification system. In this study, the authors show that Uba5, a component of the Ufm1 system, is important for regulating haematopoiesis and the differentiation of erythroid cells.

    • Kanako Tatsumi
    • , Harumi Yamamoto-Mukai
    •  & Masaaki Komatsu

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