Abstract:
:Sardinian beta-thalassemia patients all are homozygotes for the same null allele in the beta-globin gene, but the clinical manifestations are extremely variable in severity. Previous studies have shown that the coinheritance of alpha-thalassemia or the presence of genetic variants that sustain fetal hemoglobin production has a strong impact on ameliorating the clinical phenotype. Here we evaluate the contribution of variants in the BCL11A, and HBS1L-MYB genes, implicated in the regulation of fetal hemoglobin, and of alpha-thalassemia coinheritance in 50 thalassemia intermedia and 75 thalassemia major patients. We confirm that alpha-thalassemia and allele C of single nucleotide polymorphism rs-11886868 in BCL11A were selectively represented in thalassemia intermedia patients. Moreover, allele G at single nucleotide polymorphism rs9389268 in the HBS1L-MYB locus was significantly more frequent in the thalassemia intermedia patients. This trio of genetic factors can account for 75% of the variation differences in phenotype severity.
journal_name
Bloodjournal_title
Bloodauthors
Galanello R,Sanna S,Perseu L,Sollaino MC,Satta S,Lai ME,Barella S,Uda M,Usala G,Abecasis GR,Cao Adoi
10.1182/blood-2009-04-217901subject
Has Abstractpub_date
2009-10-29 00:00:00pages
3935-7issue
18eissn
0006-4971issn
1528-0020pii
blood-2009-04-217901journal_volume
114pub_type
杂志文章相关文献
BLOOD文献大全abstract::Current immunotherapeutic trials for patients with multiple myeloma (MM) focus on the idiotype (Id) as a tumor-specific antigen for active immunization. To bypass the need for the identification of shared MM-associated antigens and the characterization of possible immunogenic T-cell epitopes in a human leukocyte antig...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-04-1273
更新日期:2003-02-01 00:00:00
abstract::Donor lymphocyte infusions (DLIs) induce potent graft versus tumor (GVT) effects for relapsed chronic myelogenous leukemia (CML) after allogeneic stem cell transplantation (SCT) but are disappointing for other diseases. Disease resistance can occur if donor T cells are not appropriately activated in vivo. Ex vivo T-ce...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2005-08-3373
更新日期:2006-02-15 00:00:00
abstract::Interleukin-15 (IL-15) induces proliferation and promotes cell survival of human T and B lymphocytes, natural killer cells, and neutrophils. Here we report the constitutive expression of a functional IL-15 receptor (IL-15R) in 6 of 6 myeloma cell lines and in CD38(high)/CD45(low )plasma cells belonging to 14 of 14 pat...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:2000-01-15 00:00:00
abstract::We report results from a study exploring the combination of romidepsin, bortezomib, and dexamethasone for the treatment of patients with multiple myeloma (MM) previously treated with > 1 prior therapy. The primary objective was to determine the maximum tolerated dose (MTD) of the combination using a novel accelerated ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-03-339879
更新日期:2011-12-08 00:00:00
abstract::In the majority of Philadelphia (Ph)-positive chronic myeloid leukemia (CML) patients, the c-abl gene is fused to the bcr gene, resulting in the transcription of an 8.5 kb chimeric bcr-abl mRNA, which is translated into a p210bcr-abl fusion protein. In about 50% of the Ph-positive acute lymphoid leukemias (ALL), the b...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1990-03-01 00:00:00
abstract::Cellular oxygen partial pressure is sensed by a family of prolyl-4-hydroxylase domain (PHD) enzymes that modify hypoxia-inducible factor (HIF)alpha subunits. Upon hydroxylation under normoxic conditions, HIFalpha is bound by the von Hippel-Lindau tumor suppressor protein and targeted for proteasomal destruction. Since...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2004-10-3980
更新日期:2005-06-15 00:00:00
abstract::Three families with polycythemia inherited through apparently different modes are described. Secondary causes of polycythemia were ruled out. Erythropoietin (EPO) levels were normal or low, even after phlebotomy. In vitro erythroid colony growth in standard assay cultures containing EPO was normal; however, in the abs...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1992-06-01 00:00:00
abstract::A defect in erythropoietin (EPO) production has been advocated as being the main cause of anemia presented at time of diagnosis or during treatment by adults with solid tumors. On the basis of this defect, anemic cancer patients, both adults and children, have been treated with recombinant human EPO (rHuEPO). To furth...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract::ADP-induced TXA2 generation requires the costimulation of P2Y1, P2Y12, and the GPIIb/IIIa receptors. Signaling events downstream of the P2Y receptors that contribute to ADP-induced TXA2 generation have not been clearly delineated. In this study, we have investigated the role of G-protein-gated inwardly rectifying pota...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2006-03-010330
更新日期:2006-11-01 00:00:00
abstract::RANTES (CCL5) is a chemokine implicated in many human diseases. We previously showed that the transcription factor Kruppel-like factor 13 (KLF13) controls the late (3-5 days after activation) expression of RANTES in T lymphocytes and that KLF13 itself is translationally regulated through the 5'-untranslated region of ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2012-03-415968
更新日期:2012-08-23 00:00:00
abstract::Primary effusion lymphoma (PEL) is an aggressive subtype of non-Hodgkin lymphoma characterized by short survival with current therapies, emphasizing the urgent need to develop new therapeutic approaches. Brentuximab vedotin (SGN-35) is an anti-CD30 monoclonal antibody (cAC10) conjugated by a protease-cleavable linker ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2013-01-481713
更新日期:2013-08-15 00:00:00
abstract::Human cord blood progenitor-derived erythroblasts have recently been shown to respond to erythropoietin (Epo) or granulocyte-macrophage colony-stimulating factor (GM-CSF) with a transient increase in intracellular free calcium concentration [Cac]. However, the importance of [Cac] changes in mediating cell proliferatio...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1989-04-01 00:00:00
abstract::The granulocyte-macrophage colony-stimulating factor (GM-CSF)/interleukin (IL)-3/IL-5 receptor family regulates the production and function of myeloid cells. These cytokines signal through receptor complexes that consist of unique ligand-binding alpha-chains and common signaling beta-chains. IL-5 is distinct from IL-3...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2009-03-208850
更新日期:2009-10-29 00:00:00
abstract::Interleukin-12 (IL-12) inhibits angiogenesis in vivo by inducing interferon-gamma (IFN-gamma) and other downstream mediators. Here, we report that neutralization of natural killer (NK) cell function with antibodies to either asialo GM1 or NK 1.1 reversed IL-12 inhibition of basic fibroblast growth factor (bFGF)-induce...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-03-01 00:00:00
abstract::The reactivation of human cytomegalovirus (HCMV) poses a serious health threat to immune compromised individuals. As a treatment strategy, dendritic cell (DC) vaccination trials are ongoing. Recent work suggests that BDCA-3(+) (CD141(+)) subset DCs may be particularly effective in DC vaccination trials. BDCA-3(+) DCs ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2012-06-434498
更新日期:2012-12-20 00:00:00
abstract::Granulocyte-macrophage colony-stimulating factor (GM-CSF) has previously been shown to stimulate granulocyte, macrophage, and megakaryocyte lineages to act as an erythroid burst-promoting activity and to stimulate limited replication of spleen colony-forming cells. Here we demonstrate that murine GM-CSF alone or in co...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1988-07-01 00:00:00
abstract::Increasingly, allogeneic and even more often autologous bone marrow transplants are being done to correct a wide variety of diseases. In addition, autologous marrow transplants potentially provide an opportune means of delivering genes in transfected, engrafting stem cells. However, despite its widespread clinical use...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1997-06-01 00:00:00
abstract::A cone and plate viscometer and Coulter Counter were used to study platelet modulation of polymorphonuclear leukocyte (PMNL) aggregation caused by controlled shear stress. As an index of aggregation, the large-particle percentage (LPP) was calculated. This represents the ratio of aggregated cell count to total cell co...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract::Recently various genetic defects in immunity mediated by interferon gamma (IFN-gamma) have been described, including mutations in the IFN-gamma receptor 1 (IFN-gammaR1) and receptor 2 (IFN-gammaR2), signal transducer and activator of transcription 1 (STAT 1), and interleukin 12 receptor beta 1 (IL-12Rbeta1), and IL-12...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2003-04-1065
更新日期:2004-01-15 00:00:00
abstract::CD20 is a nonglycosylated 33 to 37 kD phosphoprotein involved in B-cell signaling that subserves important functions in the regulation of B-cell proliferation and differentiation. In addition, this B-cell surface antigen has been shown recently to be an effective target for immunotherapy of B-cell malignancies using c...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-03-01 00:00:00
abstract::Recent evidence suggests that proteolysis plays an important role in some forms of inherited and acquired von Willebrand disease (vWD). Because calpains and one or more enzymes released from polymorphonuclear leukocytes are known to proteolyze von Willebrand factor (vWF) in vitro with resultant loss of large multimers...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1988-08-01 00:00:00
abstract::Antithymocyte globulin (ATG) has recently been popularized as an effective treatment in myelodysplastic syndrome (MDS). We treated 8 anemic MDS patients (refractory anemia [RA] and refractory anemia with excess blasts [RAEB-1]) with ATG (40 mg/kg/d for 4 days) and prednisone in a phase 2 trial. The study was stopped e...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:10.1182/blood-2002-09-2867
更新日期:2003-03-15 00:00:00
abstract::A technique has been developed for handling human bone marrow cells intended for the examination of DNA repair synthesis. DNA-repair synthesis, induced by melphalan and nitrogen mustard, was measured as the incorporation of 3H-thymidine, registered by autoradiography as unscheduled DNA synthesis (UDS). Comparison of v...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1979-12-01 00:00:00
abstract::Secretion of platelet granules is necessary for normal hemostasis. Platelet secretion requires soluble N-ethylmaleimide-sensitive factor attachment protein (SNAP) receptor (SNARE) complex formation between different members of the syntaxin, SNAP-25, and vesicle-associated membrane protein (VAMP) gene families. Using m...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v100.3.1081
更新日期:2002-08-01 00:00:00
abstract::During the course of multiple myeloma (MM), new monoclonal proteins of an isotype distinct from the original clone, referred to as secondary monoclonal gammopathy of undetermined significance (MGUS), have been described. We report on the frequency, characteristics, and outcome of secondary MGUS. Of the 1942 patients w...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-04-349175
更新日期:2011-09-15 00:00:00
abstract::It has previously been shown that human granulocyte-macrophage colony-stimulating factor (GM-CSF) can be fused to a truncated diphtheria toxin (DT) to produce a recombinant fusion toxin that kills GM-CSF receptor-bearing cells. We now report that DT388-GM-CSF induces apoptosis and inhibition of colony formation in sem...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
abstract::A major limitation to the widespread use of hematopoietic stem cells (HSC) is the relatively crude level of our knowledge of how to maintain these cells in vitro without loss of the long-term multilineage growth and differentiation properties required for their clinical utility. An experimental and theoretical framewo...
journal_title:Blood
pub_type: 杂志文章,评审
doi:
更新日期:2000-08-15 00:00:00
abstract::Vascular calcification is a marker of increased cardiovascular risk. Vitamin K-dependent matrix Gla protein (MGP) is important in inhibiting calcification. Because MGP activation is vitamin K dependent, we performed a cross-sectional study investigating the relationship between the use of vitamin K antagonists and ext...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2010-01-264598
更新日期:2010-06-17 00:00:00
abstract::The human CD11a molecule is expressed specifically on lymphocytes, monocyte/macrophages, and neutrophils, in which it mediates important adhesion-related functions. We used 1.7 kb of regulatory sequences upstream from the human CD11a gene transcription start site to drive expression of a modified human CD4 reporter ge...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1995-07-01 00:00:00
abstract::Natural killer (NK) cell activation is the result of a balance between positive and negative signals triggered by specific membrane receptors. We report here the activation of NK cells induced through the transmembrane glycoprotein CD43 (leukosialin, sialophorin). Engagement of CD43 by specific antibodies stimulated t...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-10-15 00:00:00