Articles with "bcl11a" as a keyword



miR-30a regulates γ-globin expression in erythoid precursors of intermedia thalassemia through targeting BCL11A

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Published in 2020 at "Molecular Biology Reports"

DOI: 10.1007/s11033-020-05483-7

Abstract: Patients with β-thalassemia suffer from a lack or absence of the beta-globin chain of normal hemoglobin (Hb). Therefore, an increase in fetal Hb (HbF) levels could improve the clinical status of these patients. Downregulation of… read more here.

Keywords: mir 30a; bcl11a; expression; hbf levels ... See more keywords

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

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Published in 2024 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-024-01701-z

Abstract: An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of… read more here.

Keywords: developmental disorder; disorder; intellectual developmental; bcl11a ... See more keywords

The glucocorticoid receptor elicited proliferative response in human erythropoiesis is BCL11A-dependent.

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Published in 2024 at "Stem cells"

DOI: 10.1093/stmcls/sxae049

Abstract: Prior evidence indicates that the erythroid cellular response to glucocorticoids (GC) has developmental specificity, namely, that developmentally more advanced cells that are undergoing or have undergone fetal to adult globin switching are more responsive to… read more here.

Keywords: cd34 cells; adult; response; expression ... See more keywords

Zinc Finger Protein BCL11A Contributes to the Abortive Infection of Hirame novirhabdovirus (HIRRV) in B Lymphocytes of Flounder (Paralichthys olivaceus)

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Published in 2022 at "Journal of Virology"

DOI: 10.1128/jvi.01470-22

Abstract: HIRRV is a fish rhabdovirus that is considered as an important pathogen threatening the fish farming industry represented by flounder because of its high infectivity and fatality rate. To date, research toward understanding the complex… read more here.

Keywords: hirrv; bcl11a; zinc finger; infection ... See more keywords

Zinc Finger Nuclease-Mediated Disruption of the BCL11A Erythroid Enhancer Results in Enriched Biallelic Editing, Increased Fetal Hemoglobin, and Reduced Sickling in Erythroid Cells Derived from Sickle Cell Disease Patients

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Published in 2019 at "Blood"

DOI: 10.1182/blood-2019-126048

Abstract: High fetal hemoglobin (HbF) levels are associated with decreased severity and mortality in sickle cell disease (SCD) and beta thalassemia (BT). We have developed a novel gene-edited cell therapy using autologous hematopoietic stem and progenitor… read more here.

Keywords: bcl11a; hbf; sanofi employment; scd ... See more keywords

Multiplex CRISPR/Cas9 Genome Editing Targeting the BCL11A/HBG Axis Maximizes Fetal Hemoglobin Reinduction but Generates Chromosomal Translocations Which Persist In Vivo

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Published in 2020 at "Blood"

DOI: 10.1182/blood-2020-138539

Abstract: Sickle cell disease and β-thalassemia are among the most common monogenic disorders globally, causing significant morbidity and early mortality. The only curative option available is allogeneic hematopoietic stem cell transplantation, which is limited by a… read more here.

Keywords: genome editing; reinduction; crispr cas9; bcl11a ... See more keywords

MLL1 Complex Is a Critical Regulator of Fetal Hemoglobin Repression

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Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-199305

Abstract: Increasing fetal-type hemoglobin (HbF) expression in adult erythroid cells represents a promising strategy for treating β-globinopathies including sickle cell disease and β-thalassemia. However, the mechanisms responsible for the repression of HbF expression in adult erythroid… read more here.

Keywords: bcl11a; complex critical; mll1 complex; expression ... See more keywords

High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte

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Published in 2020 at "BMC Pediatrics"

DOI: 10.1186/s12887-020-02187-6

Abstract: Background Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia, specific to each population, would be prognostically useful and could inform personalized therapeutics.The objective of this study was to describe the genetic modulators… read more here.

Keywords: risk; cerebral vasculopathy; bcl11a; cell disease ... See more keywords

The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females

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Published in 2022 at "Pharmacogenomics and Personalized Medicine"

DOI: 10.2147/pgpm.s345772

Abstract: Background Endometrial carcinoma (EC) is one of the most common malignant gynecological malignancies. BCL11A gene may have a tumor-suppressor role in EC. Until now, no studies have reported the effect of BCL11A variants on EC… read more here.

Keywords: chinese han; bcl11a polymorphisms; risk; bcl11a ... See more keywords

A novel BCL11A polymorphism influences gene expression, therapeutic response and epilepsy risk: A multicenter study

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Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.1010101

Abstract: Background Genetic factors have been found to be associated with the efficacy and adverse reactions of antiseizure medications. BCL11A is an important regulator of the development of neuronal networks. However, the role of BCL11A in… read more here.

Keywords: therapeutic response; expression; bcl11a; epilepsy ... See more keywords

High Expression of BCL11A Predicts Poor Prognosis for Childhood MLL-r ALL

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Published in 2021 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2021.755188

Abstract: Background Despite much improvement in the treatment for acute lymphoblastic leukemia (ALL), childhood ALLs with MLL-rearrangement (MLL-r) still have inferior dismal prognosis. Thus, defining mechanisms underlying MLL-r ALL maintenance is critical for developing effective therapy.… read more here.

Keywords: analysis; expression; mll; bcl11a ... See more keywords