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CEBPE promoter polymorphism is associated with B-cell acute lymphoblastic leukemia.
CEBPE expression was highest in multipotent progenitor cells (S1) and declined sharply as cells progressed to B-cell-committed progenitors, including pre-B-I cells (S2), pre-B-II cells (S3) and immature B cells (S4)
IKZF1 rs10235796 C allele, IKZF1 rs6964969A>G, CDKN2A rs3731246 G>C, and CDKN2A rs3731246 C allele were signi fi cantly associated with Acute Lymphoblastic Leukemia in Yemenis of Arab-Asian descent. Borderline association found in IKZF1 rs4132601 T>G variant. No associations found with IKZF1 rs11978267 or rs7789635, DDC rs3779084; rs880028; rs7809758, CDKN2A rs3731217, CEBPE rs2239633; rs12434881
Data show that both CEBPE and SMARCD2 loss-of-function mutations identified in patients with neutrophil-specific granule deficiency (SGD) abolish the interaction with SWI/SNF and secondary granule gene expression, thus providing a molecular basis for this disease.
PML/RARalpha synergizes with C/EBPepsilon to reactivate the C/EBPepsilon target G0S2, thereby contributing to All-trans retinoic acid -mediated acute promyelocytic leukemia differentiation and potentially, clinical remission.
the rs7088318 (PIP4K2A) and rs2239633 (CEBPE) polymorphisms were not associated with ALL risk.
The minor allele of the CEBPE variant associated with lower basophil count has been previously associated with Amerindian ancestry and higher risk of acute lymphoblastic leukemia in Hispanics.
identified the rs45496295 (C > T) polymorphism in the heterozygous state in 73.9% of beta-thalassemia intermedia patients.
variants within IKZF1, ARID5B, and CEBPE were associated with pediatric ALL risks.
Genotypic and allelic frequencies differed significantly between cases and controls at IKZF1-rs4132601 (p=0.039, p=0.015) and ARID5B-rs10821936 (p=0.028, p=0.026).
variants within IKZF1, ARID5B, and CEBPE were associated with increased acute lymphoblastic leukemia (ALL) risk, and the effects for ARID5B and CEBPE were most prominent in high-hyperdiploid ALL subtype in the California Hispanic population
Data indicate no significant associations of transcription factors rs4132601 (IKZF1), rs7089424 (ARID5B) and rs2239633 (CEBPE) with risk of pediatric non-Hodgkin lymphoma (NHL).
our study provided evidence that CEBPE rs2239633 variant is associated with decreased risk of childhood B-cell ALL in Europeans.
A novel in-frame deletion in the leucine zipper domain of CEBPE leads to neutrophil-specific granule deficiency.
During neutrophil development, acetylation of lysines 121 and 198 were found to be crucial for terminal neutrophil differentiation and the expression of neutrophil-specific granule proteins, including lactoferrin and collagenase.
Studies indicate that the CCAAT/enhancer binding protein-epsilon (CEBPE) rs2239633 polymorphism was significantly associated with childhood acute lymphoblastic leukemiaacute lymphoblastic leukemia (ALL) risk.
The expression profiles of transcription factors, C/EBP(alpha, beta, epsilon) and PU.1 were further evaluated in the cells after treatment with ATRA and VPA.
study found that previously identified childhood acute lymphoblastic leukemia susceptibility loci in ARID5B and CEBPE show consistent risk effects across both Hispanic and non-Hispanic White populations, providing compelling supportive evidence for susceptibility at these loci
Germline variants in IKZF1, ARID5B, and CEBPE as risk factors for adult-onset acute lymphoblastic leukemia: an analysis from the GMALL study group.
miR-130a is important for the regulation of the timed expression of C/EBP-epsilon during granulopoiesis.
study suggests that the myeloid specific factor C/EBPepsilon is involved in systemic lipid metabolism and that silencing of C/EBPepsilon could decrease the development of atherosclerosis.
Data show that macrophages from bbee compared to single knockout mice revealed decreased expression of essential immune response-related genes and networks.
in the absence of CCAAT enhancer binding protein epsilon (C/EBPepsilon), there is not only incomplete differentiation of granulocytes, but myelopoiesis is disrupted and neutrophils have abnormal chemotaxis
C/EBP epsilon gene as an important transcription factor required for normal function and development of macrophages.
C/EBPepsilon interacts with Rb and E2F1 during granulocytic differentiation
in the later stages of myeloid development, MMP8 and other SGP genes are coordinately upregulated, and members of the C/EBP family, in particular C/EBPalpha and C/EBPepsilon, play specific and unique roles in upregulating their expression
Gfi-1 down-regulates C/EBPepsilon expression; increased expression of C/EBPepsilon as a consequence of loss of Gfi-1 function may be deleterious to the proliferation and survival of early myeloid cells
the N terminus of C/EBPepsilon is solely responsible for most aspects of myeloid differentiation, and these events are differentially affected by c-Myc
the requirement for C/EBP epsilon in mediating BPI gene expression in myeloid cells in vitro and in vivo.
The type IV isoform of PML interacted with PU.1, promoted its association with p300, and then enhanced PU.1-induced transcription and granulocytic differentiation and PU.1 directly activates the transcription of the C/EBPepsilon gene.
Phosphorylation of PML was required for stimulating C/EBP epsilon-dependent transcription and accelerating C/EBP epsilon-induced granulocytic differentiation.
Lbr, under transcriptional regulation of C/EBPepsilon, is necessary for morphological but not necessarily functional granulocyte
The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined.
CCAAT/enhancer binding protein (C/EBP), epsilon
, CCAAT/enhancer-binding protein epsilon
, CCAAT/enhancer binding protein epsilon
, c/EBP epsilon
, C/EBP-related protein 1
, CCAAT/enhancer binding protein , epsilon
, c/EBP-related protein 1