Abstract:
:The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. On the basis of a 3-dimensional model of glut1, we propose potential mechanisms underlying the phenotypes of the 2 mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia, and sdCHC phenotypes are compared and discussed.
journal_name
Bloodjournal_title
Bloodauthors
Flatt JF,Guizouarn H,Burton NM,Borgese F,Tomlinson RJ,Forsyth RJ,Baldwin SA,Levinson BE,Quittet P,Aguilar-Martinez P,Delaunay J,Stewart GW,Bruce LJdoi
10.1182/blood-2010-12-326645subject
Has Abstractpub_date
2011-11-10 00:00:00pages
5267-77issue
19eissn
0006-4971issn
1528-0020pii
blood-2010-12-326645journal_volume
118pub_type
杂志文章相关文献
BLOOD文献大全abstract::Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia-like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and des...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-02-15 00:00:00
abstract::To define the role of the alpha2beta1 integrin in pathologic angiogenesis, we investigated tumor-associated growth and angiogenesis in wild-type and alpha2-null mice. Our findings reveal that the alpha2beta1 integrin plays an important role in angiogenesis via regulation of VEGFR1 expression. When challenged with B16F...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2007-06-094680
更新日期:2008-02-15 00:00:00
abstract::Dendritic cells (DC) are highly efficient antigen-presenting cells (APC) that have an essential function in the development of immune responses against microbial pathogens and tumors. Although during the past few years our understanding of DC biology has remarkably increased, a precise characterization of the differen...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-01-15 00:00:00
abstract::An imbalance between cellular apoptosis and survival may be critical for the pathogenesis of lymphoma. Therefore, the gene expression pattern in lymph node preparations from patients with mantle cell lymphoma (MCL) was compared to the pattern in nonmalignant hyperplastic lymph nodes (HLs). Oligonucleotide microarray a...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v98.3.787
更新日期:2001-08-01 00:00:00
abstract::In adult bone marrow, mature erythroblasts are produced within structures called erythroblastic islands and then cross the endothelial barrier to reach circulation. Erythroblastic islands are composed of a central macrophage surrounded by maturing erythroblasts. In this study, it is shown that erythroid cells, but not...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v97.7.1968
更新日期:2001-04-01 00:00:00
abstract::Acute graft-versus-host disease (GVHD) is the primary limitation of allogeneic hematopoietic cell transplantation, and once it develops, there are no reliable diagnostic tests to predict treatment outcomes. We hypothesized that 6 previously validated diagnostic biomarkers of GVHD (IL-2 receptor-α; tumor necrosis facto...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2012-01-403063
更新日期:2012-04-19 00:00:00
abstract::Vinblastine was administered to anemic baboons to test whether stimulation of Hb F takes place following distortion of erythropoiesis by an M-stage-specific compound. The treatments elicited erythroid cell cytoreduction followed by regeneration. During the phase of reticulocyte reduction, gamma/gamma + beta biosynthet...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1985-08-01 00:00:00
abstract::Homing of blood-borne lymphocytes to peripheral lymph nodes (PLNs) is a multistep process dependent on the sequential engagement of L-selectin, which mediates lymphocyte rolling along the luminal surface of high endothelial venules (HEVs), followed by activation of lymphocyte integrins and transmigration through HEVs....
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2002-03-0841
更新日期:2003-01-01 00:00:00
abstract::Acute graft-versus-host disease (aGVHD) impairs thymus-dependent T-cell regeneration in recipients of allogeneic bone marrow transplants through yet to be defined mechanisms. Here, we demonstrate in mice that MHC-mismatched donor T cells home into the thymus of unconditioned recipients. There, activated donor T cells ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2006-07-034157
更新日期:2007-05-01 00:00:00
abstract::ADAMTS13 metalloprotease cleaves von Willebrand factor (VWF), thereby inhibiting platelet aggregation and arterial thrombosis. An inability to cleave ultralarge VWF resulting from hereditary or acquired deficiency of plasma ADAMTS13 activity leads to a potentially fatal syndrome, thrombotic thrombocytopenic purpura (T...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2014-07-587139
更新日期:2015-05-21 00:00:00
abstract::Many current experimental results show the necessity of new conceptual approaches to understand hematopoietic stem cell organization. Recently, we proposed a novel theoretical concept and a corresponding quantitative model based on microenvironment-dependent stem cell plasticity. The objective of our present work is t...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2004-01-0282
更新日期:2005-01-15 00:00:00
abstract::Techniques for the quantitation of virus-specific and alloantigen-reactive T cells vary in their measurement of clinically relevant T-cell effector populations, their sensitivity and quantitative accuracy, and the time required to obtain measurable results. We compared frequencies of Epstein-Barr virus (EBV)-specific ...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood.v99.5.1730
更新日期:2002-03-01 00:00:00
abstract::B-lymphoid kinase (Blk) is exclusively expressed in B cells and thymocytes. Interestingly, transgenic expression of a constitutively active form of Blk in the T-cell lineage of mice results in the development of T-lymphoid lymphomas. Here, we demonstrate nuclear factor-kappa B (NF-kappaB)-mediated ectopic expression o...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-09-181024
更新日期:2009-06-04 00:00:00
abstract::Mutations in the TET2 gene are frequent in myeloid disease, although their biologic and prognostic significance remains unclear. We analyzed 355 patients with myelodysplastic syndromes using "next-generation" sequencing for TET2 aberrations, 91 of whom were also subjected to single-nucleotide polymorphism 6.0 array ka...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2010-03-274704
更新日期:2010-11-11 00:00:00
abstract::To directly determine whether the mechanism of activation of human plasminogen (HPg) by staphylokinase (Sak) required formation of an active complex of Sak and HPg, recombinant (r) variants of HPg were examined that allowed dissection of the steps involved in this activation. The rate of activation of wild-type (wt) r...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1997-03-01 00:00:00
abstract::The introduction of immunosuppressive therapy for treatment of aplastic anemia has led to a considerable improvement in the prognosis of this disease. However, long-term follow-up of these patients showed a high incidence of "late" hematologic complications such as myelodysplasia and paroxysmal nocturnal hemoglobinuri...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1994-04-15 00:00:00
abstract::An as yet single family with a bleeding history is shown to present the characteristic lack of membrane expression of procoagulant phospholipids observed in Scott syndrome. Low prothrombin consumption in the serum of the propositus, a 71-year-old woman, and two of her children was the sole abnormal hemostasis paramete...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1996-02-15 00:00:00
abstract::We show the molecular and functional characterization of a novel population of lineage-negative CD34-negative (Lin(-)CD34(-)) hematopoietic stem cells from chronic myelogenous leukemia (CML) patients at diagnosis. Molecular karyotyping and quantitative analysis of BCR-ABL transcript demonstrated that approximately one...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2008-08-176016
更新日期:2009-12-10 00:00:00
abstract::The events that regulate engraftment and long-term repopulating ability of hematopoietic stem cells (HSCs) after transplantation are not well defined. We report for the first time that major histocompatibility complex (MHC) class I K plays a critical role in HSC engraftment via interaction with recipient natural kille...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2003-11-3910
更新日期:2004-08-01 00:00:00
abstract::Viral infections have been associated with reduced platelet counts, the biological significance of which has remained elusive. Here, we show that infection with encephalomyocarditis virus (EMCV) rapidly reduces platelet count, and this response is attributed to platelet Toll-like receptor 7 (TLR7). Platelet-TLR7 stimu...
journal_title:Blood
pub_type: 临床试验,杂志文章
doi:10.1182/blood-2013-11-536003
更新日期:2014-07-31 00:00:00
abstract::In this study, we examined in detail the interaction of platelet factor-4 (PF-4) with fibroblast growth factor-2 (FGF-2) and vascular endothelial growth factor (VEGF) and the effect of PF-4-derived synthetic peptides. We show that a peptide between amino acids 47 and 70 that contains the heparin-binding lysine-rich si...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1999-08-01 00:00:00
abstract::The ultrastructure of the lymphocytes from three children with severe combined immunodeficiency disease (SCID) is described. Parallel tubular arrays (PTA) were found in a large percentage of circulating lymphocytes (53%, 41%, and 13%) in three SCID patients when compared to age-matched controls. The size of these incl...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1977-07-01 00:00:00
abstract::A1, a bcl-2 family member, has been identified as a hematopoietic-specific, early inducible gene. In this study it is shown that stable transfection of A1 into an interleukin-3 (IL-3)-dependent myeloid precursor cell line, 32D c13, leads to a retardation of IL-3 withdrawal-induced cell death similar to that observed w...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1996-02-01 00:00:00
abstract::We report here the results of polymerase chain reaction (PCR) for bcr-abl transcript and clinical details derived from 64 chronic myelogenous leukemia (CML) patients after allogeneic bone marrow transplantation (BMT). A total of 139 samples (2 to 220 weeks after BMT) were analyzed and bcr-abl transcript was detected i...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1993-02-15 00:00:00
abstract::Because interleukin-10 (IL-10) is a potent differentiation factor of human B cells into mature plasma cells, we investigated its effect on human malignant plasma cells. IL-10 did not induce any differentiation and increase in Ig synthesis in four human IL-6-dependent malignant plasma cell lines. However, it stimulated...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::The anticoagulant warfarin has >30 million prescriptions per year in the United States. Doses can vary 20-fold between patients, and incorrect dosing can result in serious adverse events. Variation in warfarin pharmacokinetic and pharmacodynamic genes, such as CYP2C9 and VKORC1, do not fully explain the dose variabili...
journal_title:Blood
pub_type: 杂志文章
doi:10.1182/blood-2014-04-568436
更新日期:2014-10-02 00:00:00
abstract::Expression of B7 family costimulatory molecules on B cells defines their capacity to function as antigen presenting cells (APCs). B cells that do not express B7 costimulatory molecules induce T-cell tolerance. Therefore, the expression of B7 costimulatory molecules on malignant B cells might be critical for their reco...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1997-12-01 00:00:00
abstract::The present study in patients with aplastic anemia was undertaken to determine whether exposure of recipients to donor blood products 24 hr before preparation with cyclophosphamide (1) enhanced the rate of sustained engraftment of marrow from HLA-identical siblings as suggested by animal experiments, (2) increased the...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1983-04-01 00:00:00
abstract::Whole saliva samples collected from available people at risk in Boston for infection with human T-lymphotropic virus type III (HTLV-III/LAV), from late 1984 through early 1985, were analyzed for the presence of antibodies to viral proteins. Fourteen of 20 (70%) acquired immunodeficiency syndrome (AIDS) patients and 14...
journal_title:Blood
pub_type: 杂志文章
doi:
更新日期:1986-03-01 00:00:00
abstract::Whereas the chimeric type I anti-CD20 Ab rituximab has improved outcomes for patients with B-cell malignancies significantly, many patients with non-Hodgkin lymphoma (NHL) remain incurable. Obinutuzumab (GA101) is a glycoengineered, humanized anti-CD20 type II Ab that has demonstrated superior activity against type I ...
journal_title:Blood
pub_type: 杂志文章,多中心研究
doi:10.1182/blood-2012-01-404368
更新日期:2012-05-31 00:00:00