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Our studies define a mechanism for BCL11A in regulation of hematopoietic stem cell function
Bcl11a enhancer-deleted mice, Bcl11a(Deltaenh), phenocopy the BCL11A-null state with respect to alterations of globin expression.
data identify Ctip1 as a critical control over sensory cortex development
Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype
deletion of Bcl11a alters the regulation of hematopoietic stem cell quiescence, self-renewal, and fate choice
This study showed that the expression of Sema3c (zeige SEMA3C Proteine) is increased in migrating Bcl11a-deficient neurons and that Bcl11a is a direct negative regulator of Sema3c (zeige SEMA3C Proteine) transcription
The results of this study support a role for CTIP1 on the specification of the Subcerebral Projection Neurons in layer 5 through the repression of TBR1 and the promotion of CTIP2 expression.
Data indicate that Myb and BCL11A cooperate with DNMT1 to achieve developmental repression of embryonic and fetal beta-like human transgenic globin genes in the adult erythroid environment.
BCL11A is an essential, lineage-specific factor that regulates plasmacytoid dendritic cell development, supporting a model wherein differentiation into pDCs represents a primed "default" pathway for common dendritic cell progenitors.
Bcl11a controls Flt3 (zeige FLT3 Proteine) expression in early hematopoietic progenitors and is required for pDC (zeige PDC Proteine) development in vivo.
both BCL11A and HMIP (zeige MIPEP Proteine)-2 were associated with increased endogenous levels of HbF. Interestingly, we also found that BCL11A was associated with higher induction of HbF with HU.
High BCL11A expression level was correlated with lower complete remission rate and shorter overall survival in adult acute myeloid leukemia patients.
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.
Ubiquitous knockdown of BCL11A in hematopoietic stem and progenitor cells impairs hematopoietic reconstitution after transplantation.
BCL11A rs11886868 and rs4671393 genotype variations and correspondingly high BCL11A plasma levels are related to laryngeal squamous cell carcinoma, besides, differences in plasma levels and genotype distribution may be related to lymph node metastasis status and the stage of laryngeal squamous cell carcinoma.
BCL11A may operate in transformation of CML from chronic to acute phase in some persons
The BCL11A gene was found to be potentially targeted by 12 MicroRNAs that were up-regulated in Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) or in Sicilian deltabeta-thalassemia. A down-regulation of BCL11A gene expression in HPFH-2 was verified by quantitative polymerase chain reaction.
The BCL11A protein is highly expressed in breast cancer and knock-down of BCL11A promotes the apoptosis of MDA-MB-231 cells.
his study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the induction of HbF and ameliorates the severity of a-thalassaemia as well as sickle cell anaemia.
report of an intellectual disability syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF (zeige BANF1 Proteine) swi (zeige SMARCA1 Proteine)/snf (zeige SNRPA Proteine) chromatin-remodeling complex
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene.
B-cell CLL/lymphoma 11A (zinc finger protein)
, B-cell lymphoma/leukemia 11A
, COUP-TF interacting protein 1
, COUP-TF-interacting protein 1
, ecotropic viral integration site 9 protein
, myeloid leukemia
, B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2
, BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1
, C2H2-type zinc finger protein
, ecotropic viral integration site 9 homolog
, ecotropic viral integration site 9 protein homolog
, zinc finger protein 856
, B-cell CLL/lymphoma 11A