Abstract：
:We have studied a family with homozygous lethal, blood coagulation factor VII (FVII) deficiency. To identify the mutation responsible for the deficiency, exons 2 to 8 and the intron-exon junctions of their FVII genes were amplified from peripheral white blood cell DNA by polymerase chain reaction and screened by single-strand conformational polymorphism analysis. The fragment showing aberrant mobility was cloned and sequenced. We detected a single point mutation, a homozygous G to A substitution at nucleotide position 6070, in the invariant GT dinucleotide at the 5' splice site of intron 4. Homozygosity was confirmed by loss of a site for the restriction endonuclease Mlu I. Analysis of the splicing pattern of ectopic transcripts in lymphocytes in the parents revealed that this mutation is associated with skipping of exon 4, which produces an mRNA encoding FVII with an in-frame deletion of the first epidermal growth factor-like domain (EGF 1). Transient transfection of COS-7 cells with an expression vector containing the triangle upEGF 1 FVII cDNA shows that this mutant protein is not expressed. The identification of the molecular basis of the FVII deficiency in this family allowed mutation-specific prenatal diagnosis to be performed in a subsequent pregnancy. In this family complete FVII deficiency is associated with a severe bleeding diathesis but no developmental abnormalities, lending weight to the hypothesis that fetal FVII is not required for the putative angiogenic functions of tissue factor in humans.
journal_name
Bloodjournal_title
Bloodauthors
McVey JH,Boswell EJ,Takamiya O,Tamagnini G,Valente V,Fidalgo T,Layton M,Tuddenham EGsubject
Has Abstractpub_date
1998-08-01 00:00:00pages
920-6issue
3eissn
0006-4971issn
1528-0020journal_volume
92pub_type
杂志文章相关文献
BLOOD文献大全abstract：:In this issue of Blood, Larocca et al in a large prospective study show that thromboprophylaxis with low-dose aspirin is very effective in previously untreated myeloma patients with a low thromboembolic risk receiving lenalidomide with low-dose dexamethasone. ...
journal_title：Blood
pub_type： 评论,杂志文章
doi：10.1182/blood-2011-08-375089
更新日期：2012-01-26 00:00:00
abstract：:Stimulators of human erythroid burst-forming units (BFU-E) and multipotential colony-forming cells (CFU-GEMM) can be produced by a number of different cell types. A product of human peripheral blood monocytes, interleukin 1 (IL-1), was evaluated for its ability to stimulate fibroblast cultures to produce stimulators o...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:In a series of 153 children with T-cell malignancies enrolled in 2 consecutive European Organization for Research and Treatment of Cancer (EORTC) trials, we assessed the HOX11L2 expression and/or the presence of a t(5;14)(q35;q32). Additionally, in 138 of these patients, HOX11 expression and SIL-TAL rearrangement were...
journal_title：Blood
pub_type： 杂志文章,多中心研究
doi：10.1182/blood-2003-05-1495
更新日期：2004-01-15 00:00:00
abstract：:The role of subendothelial fibronectin in platelet interaction with subendothelium was studied. Human umbilical artery subendothelium was exposed to flowing blood containing 111In-labeled platelets in an annular perfusion chamber. Platelet adhesion was determined from the 111In radioactivity on the vessel wall. When p...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1985-03-01 00:00:00
abstract：:Chronic myeloid leukemia (CML) with T315I mutation has been reported to have poor prognosis. We analyzed 27 patients with T315I, including 20 who developed T315I after imatinib failure (representing 11% of 186 patients with imatinib failure), and 7 of 23 who developed new mutations after second tyrosine kinase inhibit...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2007-11-123950
更新日期：2008-07-01 00:00:00
abstract：:The clonal growth of progenitor cells from myelodysplastic syndromes (MDS) can be subdivided into four growth patterns: (1) normal, (2) no growth or low plating efficiency, (3) low colony and high cluster number, and (4) normal or high colony number with a large number of clusters. The former two (1 and 2) can be refe...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：:Signal transducer and activator of transcription 3 (STAT3) is considered a negative regulator of inflammation, as inhibition of STAT3 signaling enhances antitumor immunity. However, STAT3 activation is a key oncogenic pathway in natural killer (NK)-lineage large granular lymphomas, and we recently reported enhanced pr...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2013-05-499707
更新日期：2014-07-17 00:00:00
abstract：:In the maternal decidua, natural killer (NK) cells, characterized by lack of CD16, are found in direct contact with the fetal extravillous trophoblasts (EVTs). It is yet unknown which factors contribute to the specific homing of this unique NK subset to the decidua. In this study we analyze the chemokine receptor repe...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2003-02-0517
更新日期：2003-09-01 00:00:00
abstract：:Heme is an essential cofactor for numerous cellular functions, but release of free heme during hemolysis results in oxidative tissue damage, vascular dysfunction, and inflammation. Macrophages play a key protective role in heme clearance; however, the mechanisms that regulate metabolic adaptations that are required fo...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood.2020004964
更新日期：2020-09-24 00:00:00
abstract：:The synthetic cytokine (Synthokine) SC-55494 is a high-affinity interleukin-3 (IL-3) receptor ligand that stimulates greater in vitro multilineage hematopoietic activity than native IL-3, while inducing no significant increase in inflammatory activity relative to native IL-3. The aim of this study was to investigate t...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1996-01-15 00:00:00
abstract：:Interleukin-10 (IL-10) is a potent monocyte regulatory cytokine that inhibits gene expression of proinflammatory mediators. In this study, we investigated the mechanism by which IL-10 downregulates expression of intercellular adhesion molecule-1 (ICAM-1) on the cell surface of normal human monocytes activated with int...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1997-06-15 00:00:00
abstract：:Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the most effective tumor immunotherapy available. Although allo-HSCT provides beneficial graft-versus-tumor effects, acute GVHD (aGVHD) is the primary source of morbidity and mortality after HSCT. Diagnosis of aGVHD is typically based on clinical sympto...
journal_title：Blood
pub_type： 杂志文章,评审
doi：10.1182/blood-2012-08-355990
更新日期：2013-01-24 00:00:00
abstract：:Because of their potent immunoregulatory capacity, dendritic cells (DCs) have been exploited as therapeutic tools to boost immune responses against tumors or pathogens, or dampen autoimmune or allergic responses. Murine bone marrow-derived DCs (BM-DCs) are the closest known equivalent of the blood monocyte-derived DCs...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2009-02-204321
更新日期：2009-06-25 00:00:00
abstract：:Platelets from patients with Montreal platelet syndrome (MPS) consistently display a defect in the mechanisms that regulate platelet size during shape change and undergo spontaneous aggregation and stir-induced microaggregate formation. We now provide data that the surface glycoprotein composition of MPS platelets is ...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1989-08-01 00:00:00
abstract：:Mechanisms involving the in vitro effect of rituximab in cells from 55 patients with B-cell lymphoproliferative disorders were investigated. No cytotoxic effect was observed when cells were incubated with rituximab alone, but in the presence of human AB serum rituximab induced complement-dependent cell death (R-CDC). ...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood.v98.9.2771
更新日期：2001-11-01 00:00:00
abstract：:The acute myeloid leukemia (AML) treatment landscape has changed substantially since 2017. New targeted drugs have emerged, including venetoclax to target B-cell lymphoma 2, midostaurin and gilteritinib to target FLT3, and ivosidenib and enasidenib to target mutant isocitrate dehydrogenase 1 and 2, respectively. Other...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood.2019001239
更新日期：2020-01-09 00:00:00
abstract：:Peripheral blood B cells in patients with paroxysmal nocturnal hemoglobinuria (PNH) comprise variable mixtures of normal B cells produced before the onset of disease and glycosylphosphatidylinositol (GPI)-deficient B cells derived from the PNH hematopoietic stem cell. In a detailed phenotypic analysis of 29 patients w...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：2000-11-15 00:00:00
abstract：:Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by defective Fas-mediated apoptosis, leading to lymphadenopathy, hepatosplenomegaly, and an increased number of double-negative T cells (DNTs). Treatment options for patients with ALPS are limited. Rapamycin has been sh...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2006-01-010124
更新日期：2006-09-15 00:00:00
abstract：:Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells a...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2015-03-631374
更新日期：2015-10-01 00:00:00
abstract：:Merkel cell polyomavirus (MCPyV), a DNA tumor virus, has been found to be associated with Merkel cell carcinoma and chronic lymphocytic leukemia. MCPyV sequences have also been detected in various normal tissues in tumor-affected patients. Immunologic studies have detected MCPyV antibodies in as many as 80% of healthy...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2010-09-310557
更新日期：2011-06-30 00:00:00
abstract：:The anemia of chronic disease (ACD) results from 3 major processes: slightly shortened red cell survival, impaired reticuloendothelial system iron mobilization, and impaired erythropoiesis. Hepcidin is an acute-phase protein with specific iron regulatory properties, which, along with the anemia seen with increased hep...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2005-07-2854
更新日期：2006-04-01 00:00:00
abstract：:A large number of alterations in genes encoding receptor tyrosine kinase (RTK), namely FLT3, c-KIT, platelet-derived growth factor (PDGF) receptors, fibroblast growth factor (FGF) receptors, and the anaplastic large cell lymphoma kinase (ALK), have been found in hematopoietic malignancies. They have drawn much attenti...
journal_title：Blood
pub_type： 杂志文章,评审
doi：10.1182/blood-2010-04-279752
更新日期：2010-10-07 00:00:00
abstract：:ELL-12, a liposome formulation of the ether-lipid 1-O-octadecyl-2-O-methyl-sn-glycero-3-phosphocholine (ET-18-OCH(3)), is a nonmyelosuppressive antiproliferative agent that is more effective and less toxic than the ether lipid itself in tumor model systems. We found that ELL-12 induced apoptosis in Jurkat, H9, and U-9...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1999-11-15 00:00:00
abstract：:We have studied adenovirus-mediated cytotoxicity after infection of malignant cells obtained from patients with chronic lymphocytic leukemia (CLL). Our studies indicate that adenoviruses can infect primary CLL cells and that infection of CLL cells with a replication-competent strain of human adenovirus 5 (Ad5dl309) re...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1999-11-15 00:00:00
abstract：:Interleukin-8 (IL-8) is a neutrophil chemotactic and activating cytokine that is produced in response to several stimuli. Because monocytic cells are important producers of IL-8, we investigated whether interferon-gamma (IFN-gamma), a potent inducer of activation and differentiation of mononuclear phagocytes, affected...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1994-01-15 00:00:00
abstract：:Four of 9 PAX transcription factor genes have been associated with chromosomal translocations in human tumors, although their oncogenic potential has not yet been demonstrated in transgenic mouse models. The B-lymphoidPAX5 gene participates in the generation of the t(9;14)(p13;q32) translocation in germinal center B c...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2006-03-009670
更新日期：2007-01-01 00:00:00
abstract：:The response to intravenous challenge with sheep erythrocytes was determined in Sprague-Dawley rats following autotransplantation of splenic tissue into the subcutaneous tissue, peritoneal cavity, or a surgically created omental pouch. There was a marked rise in heterophil antibody titer following intravenous challeng...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1977-05-01 00:00:00
abstract：:Immune-mediated platelet destruction is most frequently caused by allo- or autoantibodies via Fcγ receptor-dependent phagocytosis. Disease severity can be predicted neither by antibody isotype nor by titer, indicating that other factors play a role. Here we show that the acute phase protein C-reactive protein (CRP), a...
journal_title：Blood
pub_type： 杂志文章
doi：10.1182/blood-2014-05-579110
更新日期：2015-03-12 00:00:00
abstract：:Serum cobalamin (vitamin B12) and unsaturated B12 binding capacity (UBBC) have been measured in 24 cases of hypereosinophilia: 16 were cases of hypereosinophilic syndrome (HES) and 8 of secondary eosinophilia. The two groups were similar with respect to absolute eosinophil counts. Serum cobalamin and UBBC were found t...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1984-04-01 00:00:00
abstract：:Stromal cells are believed to regulate lympho-hematopoiesis through direct cell-cell interactions and the release of growth factors. Many questions remain, however, about their lineage derivation and functional heterogeneity. We previously prepared a panel of stromal cell lines from murine spleen and bone marrow and c...
journal_title：Blood
pub_type： 杂志文章
doi：
更新日期：1989-07-01 00:00:00
