[HTML][HTML] Enhancing mitochondrial function in vivo rescues MDS-like anemia induced by pRb deficiency

T Sen, M Jain, M Gram, A Mattebo, S Soneji… - Experimental …, 2020 - Elsevier
Erythropoiesis is intimately coupled to cell division, and deletion of the cell cycle regulator
retinoblastoma protein (pRb) causes anemia in mice. Erythroid-specific deletion of pRb has …

A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of …

M Dorenkamp, N Porret, M Diepold, A Rovó - Medicina, 2023 - mdpi.com
Diamond–Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated
with malformations. DBA is related to defective ribosome biogenesis, which impairs …

Decreased PGC1β expression results in disrupted human erythroid differentiation, impaired hemoglobinization and cell cycle exit

T Sen, J Chen, S Singbrant - Scientific Reports, 2021 - nature.com
Production of red blood cells relies on proper mitochondrial function, both for their increased
energy demands during differentiation and for proper heme and iron homeostasis. Mutations …

Concise review: Advanced cell culture models for Diamond Blackfan anemia and other erythroid disorders

AR Migliaccio, L Varricchio - Stem Cells, 2018 - academic.oup.com
In vitro surrogate models of human erythropoiesis made many contributions to our
understanding of the extrinsic and intrinsic regulation of this process in vivo and how they …

Understanding complex disease‐related mechanisms: Rational therapies for Diamond–Blackfan anaemia

JM Lipton - British Journal of Haematology, 2024 - Wiley Online Library
The rich history surrounding Diamond–Blackfan anaemia (DBA), originally described in
1938 as congenital hypoplastic anaemia2 reflects the evolution of paediatric haematology …

A phenotypic screening assay identifies modulators of Diamond Blackfan anemia

K Siva, F Ek, J Chen, A Ghani Alattar… - … Life Sciences R&D, 2019 - journals.sagepub.com
Diamond-Blackfan anemia (DBA) is a bone marrow failure syndrome caused by mutations in
ribosomal protein genes. Pathogenic mechanisms are poorly understood but involve …

Confounding in ex vivo models of Diamond-Blackfan anemia

JC Ulirsch, C Lareau, LS Ludwig… - Blood, The Journal …, 2017 - ashpublications.org
In a recent issue of Blood, O'Brien et al1 describe the development of an ex vivo model of
Diamond-Blackfan anemia (DBA) using cultured peripheral blood CD34 1 progenitor cells …

Pathophysiology of myelodysplastic syndromes

M Fontenay, B Farhat, I Boussaid - Hemato, 2021 - mdpi.com
Ineffective hematopoiesis is the major characteristic of early myelodysplastic syndromes. Its
pathophysiology relies on a diversity of mechanisms supported by genetic events that …

[HTML][HTML] Targeting elevated heme levels to treat a mouse model for Diamond-Blackfan Anemia

SE Sjögren, J Chen, A Mattebo, AG Alattar… - Experimental …, 2022 - Elsevier
Diamond-Blackfan anemia (DBA) is a rare genetic disorder in which patients present a
scarcity of erythroid precursors in an otherwise normocellular bone marrow. Most, but not all …

[HTML][HTML] Harnessing single-cell technologies in the search for new therapies for Diamond-Blackfan anemia

D Iskander, A Karadimitris, I Roberts - Experimental Hematology, 2024 - Elsevier
The emergence of multi-omic single-cell technologies over the last decade has led to
improved insights into both normal hematopoiesis and its perturbation in a variety of …