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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major …
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors
Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of
erythroid progenitor differentiation, severely curtailing red blood cell production. Because …
erythroid progenitor differentiation, severely curtailing red blood cell production. Because …