Abstract:
:The clinical severity of common hereditary elliptocytosis (HE) is highly variable, ranging from an asymptomatic carrier state to a severe hemolytic anemia. To elucidate the molecular basis of this variable clinical expression, we evaluated 56 subjects from 24 HE kindred, who carry alpha spectrin mutants characterized by a spectrin dimer (SpD) self-association defect related to a structural abnormality of the alpha I domain of spectrin. Twenty-nine subjects had common HE, 13 subjects have a closely related disorder, hereditary pyropoikilocytosis (HPP), and 14 are asymptomatic carriers. We compared the severity of hemolysis with the following biochemical parameters: (a) spectrin heterodimer self-association, as manifested by the percentage of SpD in the 4 degrees C low ionic strength spectrin extract; (b) spectrin structure, as examined by limited tryptic digestion of spectrin; and (c) spectrin content of the RBC membrane. Our analysis indicates that the severity of hemolysis may be correlated with quantitative differences in the percentage of SpD in the 4 degrees C spectrin extract, as well as the total spectrin content of the membrane. Thus, HPP subjects, who have the most severe hemolytic anemia, have the highest percentage of SpD as well as a decreased spectrin content. HE subjects and asymptomatic carriers, respectively, have a lower percentage of SpD and a normal spectrin content. Factors influencing these two determinants include functional differences between the individual spectrin mutants, the relative amounts of mutant spectrin present in the cells, the stability of mutant spectrin, and the possibility of a superimposed genetic defect involving spectrin synthesis.
journal_name
Bloodjournal_title
Bloodauthors
Coetzer T,Lawler J,Prchal JT,Palek Jsubject
Has Abstractpub_date
1987-09-01 00:00:00pages
766-72issue
3eissn
0006-4971issn
1528-0020journal_volume
70pub_type
杂志文章相关文献
BLOOD文献大全abstract::Fanconi anemia (FA) is the most frequent inherited cause of bone marrow failure (BMF). Most FA patients experience hematopoietic stem cell attrition and cytopenia during childhood, which along with intrinsic chromosomal instability, favor clonal evolution and the frequent emergence in their teens or young adulthood of...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2016-01-583625
更新日期:2016-06-16 00:00:00
abstract::The molecular markers that distinguish primary mediastinal large B-cell lymphoma (PMBL) from nonmediastinal diffuse large B-cell lymphomas (NM-DLBLs) remain to be identified. Using cDNA representational difference analysis to compare PMBL and NM-DLBL transcripts, we isolated a cDNA fragment homologous to the mouse B-c...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-07-2215
更新日期:2003-04-01 00:00:00
abstract::Acute myeloid leukemia (AML) is a heterogeneous disease with complex molecular pathophysiology. To systematically characterize AML's genetic dependencies, we conducted genome-scale short hairpin RNA screens in 17 AML cell lines and analyzed dependencies relative to parallel screens in 199 cell lines of other cancer ty...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2016-05-714493
更新日期:2017-01-26 00:00:00
abstract::The replating capability of human umbilical cord blood (CB) multipotential (CFU-GEMM) progenitors was assessed in vitro as an estimate of self-renewal using erythropoietin (Epo), steel factor (SLF), and either fetal bovine serum (FBS) or CB plasma. This study found a much higher replating efficiency for CB CFU-GEMM th...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1993-02-15 00:00:00
abstract::Candidate genetic associations with acute GVHD (aGVHD) were evaluated with the use of genotyped and imputed single-nucleotide polymorphism data from genome-wide scans of 1298 allogeneic hematopoietic cell transplantation (HCT) donors and recipients. Of 40 previously reported candidate SNPs, 6 were successfully genotyp...
journal_title:Blood
pub_type: 杂志文章,多中心研究,随机对照试验,评审
doi:10.1182/blood-2011-09-371153
更新日期:2012-05-31 00:00:00
abstract::Understanding the repopulating characteristics of human hematopoietic stem/progenitor cells is crucial for predicting their performance after transplant into patients receiving high-dose radiochemotherapy. We have previously reported that CD34(+) cord blood (CB) cells can be expanded in vitro for several months in ser...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-06-01 00:00:00
abstract::This study aimed to evaluate whether gait speed and grip strength predicted clinical outcomes among older adults with blood cancers. We prospectively recruited 448 patients aged 75 years and older presenting for initial consultation at the myelodysplastic syndrome/leukemia, myeloma, or lymphoma clinic of a large terti...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.2019000758
更新日期:2019-07-25 00:00:00
abstract::To determine the risk factors and outcomes associated with rising cytomegalovirus (CMV) antigenemia levels during preemptive therapy among stem cell allograft recipients, 119 patients with CMV antigenemia were studied. Patients were prospectively monitored for CMV antigenemia weekly; those with positive findings on an...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v97.4.867
更新日期:2001-02-15 00:00:00
abstract::Interleukin-13 (IL-13) induced a potent mitogenic response in IL-3-dependent TF-1 cells and DNA synthesis to a lesser extent in MO7E and FDC-P1 cells. IL-13 stimulation of these lines, like IL-4 and insulin-like growth factor-1 (IGF-1), resulted in tyrosine phosphorylation of a 170-kD substrate. The tyrosine-phosphory...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1995-12-01 00:00:00
abstract::A recent clinical trial of gene therapy for X-linked severe combined immunodeficiency (XSCID) has shown that retroviral-mediated gene correction of bone marrow stem cells can lead to the development of normal immune function. These exciting results have been preceded by successful immune reconstitution in several XSCI...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v97.6.1618
更新日期:2001-03-15 00:00:00
abstract::Expression patterns of interleukin-6 (IL-6), IL-6 receptor (IL-6R), and gp130 genes in 39 patients with acute myeloid leukemia (AML), in 23 patients with acute lymphoblastic leukemia (ALL), and in 7 patients with acute mixed lineage leukemia (AMLL) were studied by quantitative reverse transcriptase-polymerase chain re...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-10-15 00:00:00
abstract::Redox biology is fundamental to both normal cellular homeostasis and pathological states associated with excessive oxidative stress. Reactive oxygen species function not only as signaling molecules but also as redox regulators of protein function. In the vascular system, redox reactions help regulate key physiologic r...
journal_title:Blood
pub_type: 杂志文章,评审
doi:10.1182/blood-2015-01-544676
更新日期:2015-06-18 00:00:00
abstract::Acute myeloid leukemia (AML) is one of the most common acute leukemias in adults and children, yet significant numbers of patients relapse and die of disease. In this study, we identify the dependence of AML blasts on arginine for proliferation. We show that AML blasts constitutively express the arginine transporters ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2014-09-600643
更新日期:2015-04-09 00:00:00
abstract::Tissue factor-induced blood coagulation was studied in 20 individuals, for varying periods of time during 54 months, in contact pathway-inhibited whole blood at 37 degrees C and evaluated in terms of the activation of various substrates. After quenching over time with inhibitors, the soluble phases were analyzed for t...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v100.1.148
更新日期:2002-07-01 00:00:00
abstract::Many B-lineage-specific genes are down-regulated in Hodgkin and Reed-Sternberg (HRS) cells of classical Hodgkin lymphoma (cHL). We investigated the involvement of epigenetic modifications in gene silencing in cHL cell lines and in microdissected primary HRS cells. We assessed the expression and methylation status of C...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2005-09-3765
更新日期:2006-03-15 00:00:00
abstract::It was previously shown that patients with chronic myeloid leukemia (CML) have a rare but consistently detectable population of quiescent (G0) leukemic (Philadelphia chromosome-positive and BCR-ABL-positive [BCR-ABL+]) CD34+ cells. In the study described here, most such cells expressed a primitive phenotype (CD38-, CD...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v97.3.720
更新日期:2001-02-01 00:00:00
abstract::Venomous snakes produce an array of toxic compounds, including procoagulants to defend themselves and incapacitate prey. The Australian snake Pseudonaja textilis has a venom-derived prothrombin activator homologous to coagulation factors V (FV) and Xa (FXa). Here we show that the FV component (pt-FV) has unique biolog...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2009-02-202663
更新日期:2009-07-16 00:00:00
abstract::Posttranscriptional mechanisms are now widely acknowledged to play a central role in orchestrating gene-regulatory networks in hematopoietic cell growth, differentiation, and tumorigenesis. Although much attention has focused on microRNAs as regulators of mRNA stability/translation, recent data have highlighted the ro...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-07-347237
更新日期:2011-11-24 00:00:00
abstract::Neutrophil (PMN) activation is associated with increased surface expression of several membrane proteins that are translocated from intracellular pools. Indirect evidence suggests that the intracellular storage pools of complement receptor type 1 (CR1) in resting PMN are distinct from traditional granules and may be t...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1997-06-15 00:00:00
abstract::In the 2005-01 trial, we have demonstrated that bortezomib-dexamethasone as induction therapy before autologous stem cell transplantation was superior to vincristine-adriamycin-dexamethasone. We conducted a post-hoc analysis to assess the prognostic impact of initial characteristics as well as response to therapy in p...
journal_title:Blood
pub_type: 杂志文章,随机对照试验
doi:10.1182/blood-2010-08-300863
更新日期:2011-03-17 00:00:00
abstract::The malignant Reed-Sternberg cell of Hodgkin disease is an aberrant B cell that persists in an immunolgically mediated inflammatory infiltrate. Despite its nonproductive immunoglobulin genes, the Reed-Sternberg cell avoids the usual apoptotic fate of defective immune cells through an unknown mechanism. A likely candid...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:2000-10-15 00:00:00
abstract::2-Methoxyestradiol (2-ME), a new anticancer agent currently in clinical trials, has been demonstrated to inhibit superoxide dismutase (SOD) and to induce apoptosis in leukemia cells through a free radical-mediated mechanism. Because the accumulation of superoxide (O(2)-) by inhibition of SOD depends on the cellular ge...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-08-2512
更新日期:2003-05-15 00:00:00
abstract::Haploinsufficiency of ribosomal proteins (RPs) has been proposed to be the common basis for the anemia observed in Diamond-Blackfan anemia (DBA) and myelodysplastic syndrome with loss of chromosome 5q [del(5q) MDS]. We have modeled DBA and del(5q) MDS in zebrafish using antisense morpholinos to rps19 and rps14, respec...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-10-382986
更新日期:2012-09-13 00:00:00
abstract::Hematopoietic stem cells (HSCs) show pronounced heterogeneity in self-renewal and differentiation behavior, which is reflected in their repopulation kinetics. Here, a single-cell-based mathematical model of HSC organization is used to examine the basis of HSC heterogeneity. Our modeling results, which are based on the...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-05-155374
更新日期:2008-12-15 00:00:00
abstract::In this issue of Blood, Finn et al have taken a factor IX variant with increased specific activity associated with thrombophilia and used it to improve gene therapy of hemophilia B in dogs, and Cantore et al have shown similar results in mice. ...
journal_title:Blood
pub_type: 评论,杂志文章
doi:10.1182/blood-2012-09-452821
更新日期:2012-11-29 00:00:00
abstract::Patients with relapsed chronic lymphocytic leukemia (CLL) and high-risk features, such as fludarabine refractoriness, complex karyotype, or abnormalities of chromosome 17p, experience poor outcomes after standard fludaradine-based regimens. Alemtuzumab is a chimeric CD52 monoclonal antibody with activity in CLL patien...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2011-03-341032
更新日期:2011-08-25 00:00:00
abstract::Clinical results after T-cell-depleted allografts might be improved by modifying the graft content of progenitor and accessory cells. Although the association of the number of donor T cells with the clinical outcome has been studied extensively, the optimum number of progenitor cells that should be administered to pat...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v98.8.2352
更新日期:2001-10-15 00:00:00
abstract::De novo presentation of acute myeloid leukemia (AML) expressing the Philadelphia (Ph) chromosomal abnormality is rare and is associated with a dismal prognosis. To date, reported cases of Ph(+) AML have expressed either the e13a2 or e14a2 BCR-ABL fusion transcripts. We report a unique case of de novo AML expressing th...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-08-107508
更新日期:2008-03-01 00:00:00
abstract::We report an RNA targeting strategy, which selectively degrades bcr/abl mRNA in chronic myelogenous leukemia (CML) cells. A 2', 5'-tetraadenylate activator (2-5A) of RNase L was chemically linked to oligonucleotide antisense directed against either the fusion site or against the translation start sequence in bcr/abl m...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1998-12-01 00:00:00
abstract::Humans and mice with impaired perforin-dependent cytotoxic function may develop excessive T-cell activation and the fatal disorder hemophagocytic lymphohistiocytosis (HLH) after infection. Though cytotoxic lymphocytes can kill antigen-presenting cells, the physiological mechanism of perforin-mediated immune regulation...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2013-04-495309
更新日期:2013-06-27 00:00:00