|
beta^+^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Oridonin enhances γ‑globin expression in erythroid precursors from patients with β‑thalassemia via activation of p38 MAPK signaling.
|
31789406 |
2020 |
|
beta^+^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The mutation appears to be the main candidate responsible for the beta thalassemia-ameliorating effect as this segregates with the observed phenotype and also exogenous expression of the KLF1 mutant protein in human erythroid progenitor cells resulted in the induction of γ-globin, without, however, affecting BCL11A levels.
|
31115947 |
2019 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Disruption of SOX6 gene using CRISPR/Cas9 technology for gamma-globin reactivation: An approach towards gene therapy of β-thalassemia.
|
30010219 |
2018 |
|
beta^+^ Thalassemia
|
0.100 |
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 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Enhanced fetal γ-globin synthesis alleviates symptoms of β-globinopathies such as sickle cell disease and β-thalassemia, but current γ-globin-inducing drugs offer limited beneficial effects.
|
23416702 |
2013 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among these, α-thalassemia was 5.20%, β-thalassemia was 1.99% and abnormal hemoglobin variant was 0.57%.
|
24055728 |
2013 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
High-level production of β-globin, γ-globin, or therapeutic mutant globins in the RBC lineage by hematopoietic stem cell gene therapy ameliorates or cures the hemoglobinopathies sickle cell disease and beta thalassemia, which are major causes of morbidity and mortality worldwide.
|
23233592 |
2012 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
After they received information about thalassemia, they were screened for beta-thalassemia and abnormal hemoglobin using complete blood count (CBC) and quantification of hemoglobin.Hemoglobin was fractionated using HPLC.
|
22897698 |
2012 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Seventy-six percent of the fetuses were at risk for β-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of β-thalassemia and an abnormal hemoglobin of the β chain.
|
20863160 |
2011 |
|
beta^+^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data could have practical relevance, because pharmacologically mediated regulation of human gamma-globin gene expression, with the consequent induction of fetal hemoglobin, is considered a potential therapeutic approach in hematological disorders including beta-thalassemia and sickle cell anemia.
|
19777196 |
2009 |
|
beta^+^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, we believe that the poor clinical response in a majority of patients with beta-Thal to inducers of gamma-globin expression may be a reflection of unfavorable effects of these agents on the other globin genes.
|
19346141 |
2009 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Expression of the gamma-globin gene is sustained by the cAMP-dependent pathway in beta-thalassaemia.
|
17614826 |
2007 |
|
beta^+^ Thalassemia
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
In this review, we discuss the role of DNA methylation in gamma-globin gene regulation, describe clinical trials with agents that hypomethylate DNA and speculate about the future role of DNA hypomethylation therapy in patients with SCD and beta-thalassemia.
|
16513230 |
2006 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Effects of human gamma-globin in murine beta-thalassaemia.
|
16803575 |
2006 |
|
beta^+^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The ability of rapamycin to preferentially increase gamma-globin mRNA content and production of HbF in erythroid precursor cells from beta-thalassaemia patients is of great importance as this agent (also known as sirolimus or rapamune) is already in clinical use as an anti-rejection agent following kidney transplantation.
|
16939628 |
2006 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Toward the continuing goal of developing retrovirus vectors for the treatment of the beta-chain hemoglobinopathies, we report here the assessment of a recombinant gammaretrovirus vector for human gamma-globin in murine models of beta-thalassemia.
|
16814578 |
2006 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transgenic mice heterozygous for a deletion beta thalassemia and hemizygous for a human gamma globin transgene were treated with these compounds and hematologic responses as well as the induction of gamma gene expression were evaluated.
|
16338486 |
2005 |
|
beta^+^ Thalassemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We report in this paper that the DNA-binding drug mithramycin is a potent inducer of gamma-globin mRNA accumulation and fetal hemoglobin (HbF) production in erythroid cells from healthy human subjects and beta-thalassemia patients.
|
12738678 |
2003 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Along with this abnormal hemoglobin, HbS and beta-thalassemia were also found.
|
12764548 |
2003 |
|
beta^+^ Thalassemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The determination of the molecular pathology of 754 beta-thalassemia and 42 abnormal hemoglobin genes and analysis of the frequency distribution in six distinct regions of Turkey was accomplished.
|
9495372 |
1998 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The types of SCD reported were as follows: compound heterozygotes HbS-beta thalassemia, (S-Th, 518 cases); homozygotes for HbS, (S-S, 149 cases); compound heterozygotes HbS and another abnormal hemoglobin (21 cases).
|
9830795 |
1998 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify which of these factors may contribute to the modification of childhood homozygous, high-hemoglobin A2 (HbA2) beta-thalassemia in Greece, the interaction of alpha-thalassemia, types of beta-thalassemia mutations, and the presence of a polymorphic site 5' to the G gamma-globin gene, which has been described as associated with increased gamma-globin chain production in some cases, was assessed.
|
7703040 |
1995 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of a beta-thalassaemia chromosome with Xmn I cleavage site at position -158 of the G gamma-globin gene which was linked to the haplotype -+-++ or ++-++, was associated with a milder anaemia.
|
7686036 |
1993 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have sequenced the 5' hypersensitive-2 (5'HS-2) site of the locus control region (LCR) and the promoters of the two gamma-globin genes located on chromosome 11 of a black patient with mild beta-thalassemia (beta-thal) major due to a homozygosity for the C----T mutation at position -88 of the beta promoter and with a high Hb F level.
|
1384315 |
1992 |
|
beta^+^ Thalassemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nearly all patients were transfused, which made quantitation of Hb F impossible; high G gamma values were present in the Hb F of those patients whose beta-thalassemia chromosome carried the C-->T mutation at position -158 in the promoter of the G gamma-globin gene.
|
1483699 |
1992 |