Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
There is a general agreement that pharmacologically mediated stimulation of human γ-globin gene expression and increase of production of fetal hemoglobin (HbF) is a potential therapeutic approach in the experimental therapy of β-thalassemia and sickle cell anemia.
|
31273412 |
2019 |
Anemia, Sickle Cell
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a group of inherited blood disorders caused by mutations in the human β-globin gene, leading to the synthesis of abnormal hemoglobin S, chronic hemolysis, and oxidative stress.
|
30674214 |
2019 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Re-expression of the paralogous γ-globin genes (HBG1/2) could be a universal strategy to ameliorate the severe β-globin disorders sickle cell disease (SCD) and β-thalassemia by induction of fetal hemoglobin (HbF, α<sub>2</sub>γ<sub>2</sub>)<sup>1</sup>.
|
30911135 |
2019 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
The genome-wide miRNA microarray and primary erythroid progenitor data support a miR-144/NRF2-mediated mechanism of γ-globin gene regulation in SCD.
|
30412705 |
2019 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Erythrocyte sickling, the primary pathologic event in SCD, results in dramatic morphological changes in red blood cells (RBCs) because of polymerization of the abnormal hemoglobin.
|
30952675 |
2019 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Induction of fetal hemoglobin (HbF) via clustered regularly interspaced short palindromic repeats/Cas9-mediated disruption of DNA regulatory elements that repress γ-globin gene (HBG1 and HBG2) expression is a promising therapeutic strategy for sickle cell disease (SCD) and β-thalassemia, although the optimal technical approaches and limiting toxicities are not yet fully defined.
|
31698466 |
2019 |
Anemia, Sickle Cell
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Five SNPs in the three QTLs (HBG2, rs7482144; BCL11A, rs1427407 and rs10189857; and HBS1L-MYB intergenic region, rs28384513 and rs9399137) were investigated by multiplex PCR and reverse hybridization, and their roles in HbF and clinical phenotype variability in Iraqi Kurds with SCD were assessed.
|
30216683 |
2019 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We generated helper-dependent HDAd5/35<sup>++</sup> adenovirus vectors expressing CRISPR/Cas9 for potential hematopoietic stem cells (HSCs) gene therapy of β-thalassemia and sickle cell disease through re-activation of fetal γ-globin expression (HDAd-globin-CRISPR).
|
30038942 |
2018 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Oral administration of ORY-3001 to SCD mice (n = 3 groups) increased γ-globin expression, Fetal Hemoglobin (HbF)-containing (F) cells, and F reticulocytes (retics).
|
30125603 |
2018 |
Anemia, Sickle Cell
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene.
|
30480767 |
2018 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Although the seminal event in sickle cell disease is the polymerization of abnormal hemoglobin, the downstream pathophysiology of vasoocclusion results from heterotypic interactions between the altered, adhesive sickle cell red blood cells, neutrophils, endothelium, and platelets.
|
30504350 |
2018 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Sickle cell disease (SCD) is an autosomal recessive disorder that results in hemolytic anemia related to abnormal hemoglobin and erythrocyte levels.
|
29309293 |
2018 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Reactivating the developmentally silenced fetal HBG1 and HBG2 (γ-globin) genes is a therapeutic goal for treating SCD and β-thalassemia <sup>1</sup> .
|
29610478 |
2018 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Genetic knockout of NRF2 demonstrates its role in developmentally regulated γ-globin gene expression and the ability to control oxidative stress and the phenotypic severity of SCD.
|
29255069 |
2018 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Collectively, our data implicate FOXO3 as a positive regulator of γ-globin expression and identify metformin as a potential therapeutic agent for SCD.
|
29884740 |
2018 |
Anemia, Sickle Cell
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hydroxyurea differentially modulates activator and repressors of γ-globin gene in erythroblasts of responsive and non-responsive patients with sickle cell disease in correlation with Index of Hydroxyurea Responsiveness.
|
28971909 |
2017 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells.
|
29166365 |
2017 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Patients with sickle cell anemia (SCA) have abnormal hemoglobin (sickle hemoglobin S) leading to the crystallization of hemoglobin chains in red blood cells (RBCs), which assume sickle shape and display reduced flexibility.
|
28579187 |
2017 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The mechanisms that repress HbF expression and silence γ-globin genes in adults are incompletely characterized and only a single HbF inducer, hydroxyurea, is approved for treatment, and only in patients with sickle cell disease.
|
28776729 |
2017 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
DMF recruited Nrf2 to the γ-globin promoters and the locus control region of the β-globin locus in erythroleukemia cells, elevated HbF in SCD donor-derived erythroid progenitors, and reduced hypoxia-induced sickling.
|
29046485 |
2017 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin.
|
28115816 |
2017 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Understanding the transcriptional regulation of the globin genes is of particular interest, as reactivating the foetal γ-globin gene alleviates the symptoms of β-thalassaemia and sickle cell anaemia.
|
27718361 |
2017 |
Anemia, Sickle Cell
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene.
|
27841932 |
2016 |
Anemia, Sickle Cell
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Disorders resulting from mutations in the hemoglobin subunit beta gene (HBB; which encodes β-globin), mainly sickle cell disease (SCD) and β-thalassemia, become symptomatic postnatally as fetal γ-globin expression from two paralogous genes, hemoglobin subunit gamma 1 (HBG1) and HBG2, decreases and adult β-globin expression increases, thereby shifting red blood cell (RBC) hemoglobin from the fetal (referred to as HbF or α2γ2) to adult (referred to as HbA or α2β2) form.
|
27525524 |
2016 |
Anemia, Sickle Cell
|
0.200 |
Biomarker
|
disease |
BEFREE |
Bone marrow CD34+ cells from three SCD patients were transduced using V5m3-400 or βAS3-FB and compared with mock-transduced SCD or healthy donor CD34+ cells.
|
25681747 |
2015 |