Genetic predisposition to MDS: clinical features and clonal evolution

AL Kennedy, A Shimamura - … Journal of the American Society of …, 2019 - ashpublications.org
Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

The GATA factor revolution in hematology

KR Katsumura, EH Bresnick… - Blood, The Journal …, 2017 - ashpublications.org
The discovery of the GATA binding protein (GATA factor) transcription factor family
revolutionized hematology. Studies of GATA proteins have yielded vital contributions to our …

Domain-focused CRISPR screen identifies HRI as a fetal hemoglobin regulator in human erythroid cells

JD Grevet, X Lan, N Hamagami, CR Edwards… - Science, 2018 - science.org
Increasing fetal hemoglobin (HbF) levels in adult red blood cells provides clinical benefit to
patients with sickle cell disease and some forms of β-thalassemia. To identify potentially …

Rare ribosomopathies: insights into mechanisms of cancer

A Aspesi, SR Ellis - Nature Reviews Cancer, 2019 - nature.com
Long thought to be too big and too ubiquitous to fail, we now know that human cells can fail
to make sufficient amounts of ribosomes, causing a number of diseases collectively known …

[HTML][HTML] Epigenetically upregulated NSUN2 confers ferroptosis resistance in endometrial cancer via m5C modification of SLC7A11 mRNA

SJ Chen, J Zhang, T Zhou, SS Rao, Q Li, LY Xiao… - Redox biology, 2024 - Elsevier
Endometrial cancer (EC) is a prevalent gynecological malignancy worldwide, and 5-
methylcytosine (m 5 C) modification of mRNA is a crucial epigenetic modification associated …

[HTML][HTML] One ring to bring them all and in the darkness bind them: The trafficking of heme without deliverers

IG Chambers, MM Willoughby, I Hamza… - Biochimica et Biophysica …, 2021 - Elsevier
Heme, as a hydrophobic iron-containing organic ring, is lipid soluble and can interact with
biological membranes. The very same properties of heme that nature exploits to support life …

Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia

D Iskander, G Wang, EF Heuston… - Science translational …, 2021 - science.org
Ribosome dysfunction underlies the pathogenesis of many cancers and heritable
ribosomopathies. Here, we investigate how mutations in either ribosomal protein large …

[HTML][HTML] Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia

Y Liu, S Karlsson - Leukemia, 2024 - nature.com
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder
characterized by erythroid hypoplasia. It primarily affects infants and is often caused by …

Diamond-blackfan anemia

L Da Costa, T Leblanc… - Blood, The Journal of the …, 2020 - ashpublications.org
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a
constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major …

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

S Doulatov, LT Vo, ER Macari, L Wahlster… - Science translational …, 2017 - science.org
Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of
erythroid progenitor differentiation, severely curtailing red blood cell production. Because …