Blood Cells, Molecules, and Diseases
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Low MDR1 and BAALC expression identifies a new subgroup of intermediate cytogenetic risk acute myeloid leukemia with a favorable outcome.
We have evaluated the impact of expression of the gene BAALC in conjunction with MDR1 in AML with intermediate cytogenetic risk group to more precisely define risk assessment. Low MDR1/high BAALC, high MDR1/low BAALC, and high MDR1/high BAALC expressers demonstrated a similar clinical outcome with C...
ETS transcription factors in hematopoietic stem cell development.
We summarize the key findings on the roles of ETS transcription factors in HSC development and discuss novel mechanisms by which they could control hematopoiesis. © 2013....
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease.
The purpose of this pilot was to assess the tolerability and efficacy of ambroxol as a pharmacological chaperone in patients with symptomatic, type 1 Gaucher disease who present with measurable disease parameters but are not receiving enzyme replacement therapy (ERT) in order to provide proof of con...
Efflux of glutathione and glutathione complexes from human erythrocytes in response to vanadate.
The main objective of the present study was to investigate if vanadate is extruded from the cells in a glutathione dependent manner resulting in the appearance of extracellular glutathione and complexes of glutathione with vanadium. Vanadate significantly depleted intracellular non-protein sulfhydry...
Preliminary characterization of the murine membrane reticulocyte proteome
We identified proteins potentially lost during and/or involved in the reticulocyte maturation process. The reticulocyte proteome has not yet been published, as previous such studies have focused on the mature erythrocyte. Membrane-rich fractions were fractionated by electrophoresis followed by analy...
Markers of coagulation activation and enhanced fibrinolysis in Gaucher type 1 patient: Effects of enzyme replacement therapy
Identification of a novel mutation in theHAMPgene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hem...
We identified a novel mutation in the HAMP gene of a 58-year-old Japanese male patient with hemochromatosis. By direct sequencing of the five hereditary hemochromatosis-related genes, HFE, HAMP, HJV, TFR2, and SLC40A1, the previously unreported p.R75X mutation was identified, and the patient was fou...
Oral chelators in transfusion-dependent thalassemia major patients may prevent or reverse iron overload complications
We noted a significant decrease in the mean 2 h glucose in OGTT. Additionally an improvement in gonadal function was observed and one male and one female gave birth to two healthy children without hormonal stimulation. Combined oral chelation in thalassemia offers the promise of easier adminis...
Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast ...
In order to update the molecular basis of β-thalassemia and describe hematological features among different mutations and the concurrent of α- and β-thalassemias, 849 unrelated β-thalassemia heterozygotes recruited in northeast Thailand during a prevention and control program were studied. β- a...