نتایج جستجو برای: bcl11a
تعداد نتایج: 301 فیلتر نتایج به سال:
Despite their physiological importance, selective interactions between nuclear receptors (NRs) and their cofactors are poorly understood. Here, we describe a novel signature motif (F/YSXXLXXL/Y) in the developmental regulator BCL11A that facilitates its selective interaction with members of the NR2E/F subfamily. Two copies of this motif (named here as RID1 and RID2) permit BCL11A to bind COUP-T...
The development of T-cells from multipotent progenitors is highly regulated by a complex network of transcription factors, including Bcl11a and Bcl11b. Cells which do not properly undergo the transition to become committed cells will continue to proliferate above normal levels and become malignant. In the stepwise progression of T-cell development, Bcl11a is expressed in early stages when the p...
ناحیه lcr در خوشه بتاگلوبین ، در تنظیم بیان ژن های گلوبین در زمان های مختلف تکامل نقش دارد. مطالعات بیوشیمیایی پیشنهاد می کند که ناحیه پلی مورفیک 5hs4 که می تواند آلل aa یا gg داشته باشد روی ساختار کروماتین تاثیر دارد و در نتیجه می تواند در اتصال فاکتورهای رونویسی به این ناحیه نقش داشته باشد. bcl11a یک فاکتور رونویسی مهارکننده بیان ژن گاما می باشد که شواهد نشان داده که این فاکتور به lcr باند...
Background and aim: Induction of fetal hemoglobin (Hb-F) can improve the patients’ symptoms of haemoglobinopathies. Several factors can induce gamma globin gene expression and increased Hb-F levels in patients. In this study, the expression of genes is involved in regulation of gamma globin synthesis such as PIPKII-alpha BCL11a, and miR-30a during CD34+ hematopoietic stem cell differentiation i...
Reactivation of fetal hemoglobin (HbF) is a promising approach for the treatment of β-hemoglobinopathies and the targeting of genes involved in HbF regulation is under intensive investigation. Here, we established a nonhuman primate (NHP) transplantation model to evaluate hematopoietic stem cell (HSC)-based gene editing strategies aimed at reactivating HbF. We first characterized the transient ...
BACKGROUND & OBJECTIVES The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association betwe...
Alpha-hemoglobin stabilizing protein (AHSP) is a molecular chaperone that can reduce the damage caused by excess free α-globin to erythroid cells in patients with impaired β-globin chain synthesis. We assessed the effect of sodium phenylbutyrate and sodium valproate, two histone deacetylase inhibitors (HDIs) that are being studied for the treatment of hemoglobinopathies, on the expression of AH...
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcr...
In human adult erythroid cells, lower than normal levels of Krüppel-like transcription factor 1 (KLF1) are generally associated with decreased adult β- and increased fetal γ-globin gene expression. KLF1 also regulates BCL11A, a known repressor of adult γ-globin expression. In seeming contrast to the findings in adult cells, lower amounts of KLF1 correlate with both reduced embryonic and reduced...
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