Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.

abstract：:Recent studies on the immunoglobulin variable heavy chain (IgV(H)) genes have revealed that B-cell chronic lymphocytic leukemia (B-CLL) consists of at least 2 clinical entities with either somatically mutated or unmutated V(H) genes. We have analyzed the V(H) gene mutation status and V(H) gene usage in 119 B-CLL cases...

journal_title：Blood

authors： Tobin G,Thunberg U,Johnson A,Thörn I,Söderberg O,Hultdin M,Botling J,Enblad G,Sällström J,Sundström C,Roos G,Rosenquist R

更新日期：2002-03-15 00:00:00

abstract：:Some patients lose chimerism following nonmyeloablative hematopoietic cell transplantation (HCT), yet, surprisingly, enjoy sustained tumor remissions. We hypothesized that host-versus-graft (HVG) alloresponses might induce antitumor effects against recipient tumors. We explored this question in mice by administering r...

journal_title：Blood

authors： Rubio MT,Kim YM,Sachs T,Mapara M,Zhao G,Sykes M

更新日期：2003-09-15 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

authors： Payne EM,Virgilio M,Narla A,Sun H,Levine M,Paw BH,Berliner N,Look AT,Ebert BL,Khanna-Gupta A

更新日期：2012-09-13 00:00:00

abstract：:The present studies were initiated to define the coding region of a 34 kilodalton (kd) protein (p34) frequently observed with antibodies from HTLV-III/LAV-infected people by immunoblotting and radioimmunoprecipitation (RIP) techniques. We have directly mapped this viral protein to the pol gene of HTLV-III/LAV by radio...

journal_title：Blood

authors： Allan JS,Coligan JE,Lee TH,Barin F,Kanki PJ,M'Boup S,McLane MF,Groopman JE,Essex M

更新日期：1987-01-01 00:00:00

abstract：:Twenty-six patients with progressive Hodgkin's disease after conventional chemotherapy received intensive chemoradiotherapy and autologous bone marrow transplantation (ABMT); 19 also received additional involved-field radiotherapy. Twenty-one patients [81%, 95% confidence intervals (CI) 61% to 94%] attained complete (...

journal_title：Blood

authors： Phillips GL,Wolff SN,Herzig RH,Lazarus HM,Fay JW,Lin HS,Shina DC,Glasgow GP,Griffith RC,Lamb CW

更新日期：1989-06-01 00:00:00

abstract：:Hemophilia B Leyden is an X chromosome-linked bleeding disorder characterized by an altered developmental expression of blood coagulation factor IX. This form of hemophilia B has been found to be associated with a variety of single point mutations in the factor IX promoter region. We now describe a novel point mutatio...

journal_title：Blood

authors： Reijnen MJ,Peerlinck K,Maasdam D,Bertina RM,Reitsma PH

更新日期：1993-07-01 00:00:00

abstract：:Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disease. Inherited forms of HLH are caused by biallelic mutations in several effectors of granule-dependent lymphocyte-mediated cytotoxicity. A small proportion of patients with a so-called "secondary" form of HLH, which develops in the a...

journal_title：Blood

authors： Sepulveda FE,Garrigue A,Maschalidi S,Garfa-Traore M,Ménasché G,Fischer A,de Saint Basile G

更新日期：2016-04-28 00:00:00

abstract：:Peroxiredoxin 2 (Prx2), a thiol-dependent peroxidase, is the third most abundant protein in the erythrocyte, and its absence in knock-out mice gives rise to hemolytic anemia. We have found that in human erythrocytes, Prx2 was extremely sensitive to oxidation by H(2)O(2), as dimerization was observed after exposure of ...

journal_title：Blood

authors： Low FM,Hampton MB,Peskin AV,Winterbourn CC

更新日期：2007-03-15 00:00:00

abstract：:Myelodysplastic syndromes (MDSs) are hematopoietic stem cell disorders in which recurrent mutations define clonal hematopoiesis. The origin of the phenotypic diversity of non-del(5q) MDS remains unclear. Here, we investigated the clonal architecture of the CD34+CD38- hematopoietic stem/progenitor cell (HSPC) compartme...

journal_title：Blood

authors： Chesnais V,Arcangeli ML,Delette C,Rousseau A,Guermouche H,Lefevre C,Bondu S,Diop M,Cheok M,Chapuis N,Legros L,Raynaud S,Willems L,Bouscary D,Lauret E,Bernard OA,Kosmider O,Pflumio F,Fontenay M

更新日期：2017-01-26 00:00:00

abstract：:Plasminogen activator inhibitor 1 (PAI-1) is the fast-acting inhibitor of both tissue-type and urokinase-type plasminogen activators (t-PA, u-PA) and is an essential regulatory protein of the fibrinolytic system. In the presence of either the protein vitronectin or the glycosaminoglycan heparin, PAI-1 is also an effic...

journal_title：Blood

authors： Keijer J,Linders M,Wegman JJ,Ehrlich HJ,Mertens K,Pannekoek H

更新日期：1991-09-01 00:00:00

abstract：:A deficiency of adenosine deaminase, an enzyme important in purine nucleoside catabolism, is associated with a severe combined immunodeficiency disease in children. Inhibition of this enzyme in vitro and in vivo results in an impairment in lymphoblast proliferation. We have investigated the pharmacologic inhibition of...

journal_title：Blood

authors： Grever MR,Siaw MF,Jacob WF,Neidhart JA,Miser JS,Coleman MS,Hutton JJ,Balcerzak SP

更新日期：1981-03-01 00:00:00

abstract：:The effect of hydroxyurea in 35 patients with chronic granulocytic leukemia (CGL), who either had entered an accelerated phase of the disease or had experienced excessive myelosuppression following alkylating agents, was studied. By either intravenous or oral administration, the drug was successful in reducing periphe...

journal_title：Blood

authors： Schwartz JH,Cannellos GP

更新日期：1975-07-01 00:00:00

abstract：:Dendritic cells (DCs) express many endocytic receptors that deliver antigens for major histocompatibility class (MHC) I and II presentation to CD8(+) and CD4(+) T cells, respectively. Here, we show that targeting Epstein-Barr virus (EBV) nuclear antigen 1 (EBNA1) to one of them, the human multilectin DEC-205 receptor,...

journal_title：Blood

authors： Gurer C,Strowig T,Brilot F,Pack M,Trumpfheller C,Arrey F,Park CG,Steinman RM,Münz C

更新日期：2008-08-15 00:00:00

abstract：:Complete interleukin-12/interleukin-23 receptor beta1 (IL-12Rbeta1) deficiency is the most frequent known genetic etiology of the syndrome of Mendelian susceptibility to mycobacterial disease. The patients described to date lack IL-12Rbeta1 at the surface of their natural killer (NK) and T cells due to IL12RB1 mutatio...

journal_title：Blood

authors： Fieschi C,Bosticardo M,de Beaucoudrey L,Boisson-Dupuis S,Feinberg J,Santos OF,Bustamante J,Levy J,Candotti F,Casanova JL

更新日期：2004-10-01 00:00:00

abstract：:Human transferrin receptor-2 (TFR-2) is a protein highly homologous to TFR-1/CD71 and is endowed with the ability to bind transferrin (TF) with low affinity. High levels of TFR-2 mRNA were found in the liver and in erythroid precursors. Mutations affecting the TFR-2 gene led to hemochromatosis type 3, a form of inheri...

journal_title：Blood

authors： Deaglio S,Capobianco A,Calì A,Bellora F,Alberti F,Righi L,Sapino A,Camaschella C,Malavasi F

更新日期：2002-11-15 00:00:00

abstract：:The recombinant thrombopoietins have been shown to be effective stimulators of platelet production in cancer patients. It was therefore of interest to determine if one of these, pegylated recombinant human megakaryocyte growth and development factor (PEG-rHuMGDF), could be used to increase platelet counts and conseque...

journal_title：Blood

authors： Kuter DJ,Goodnough LT,Romo J,DiPersio J,Peterson R,Tomita D,Sheridan W,McCullough J

更新日期：2001-09-01 00:00:00

abstract：:The vitelline artery is a temporary structure that undergoes extensive remodeling during midgestation to eventually become the superior mesenteric artery (also called the cranial mesenteric artery, in the mouse). Here we show that, during this remodeling process, large clusters of hematopoietic progenitors emerge via ...

journal_title：Blood

authors： Zovein AC,Turlo KA,Ponec RM,Lynch MR,Chen KC,Hofmann JJ,Cox TC,Gasson JC,Iruela-Arispe ML

更新日期：2010-11-04 00:00:00

abstract：:Production of a red blood cell's hemoglobin depends on mitochondrial heme synthesis. However, mature red blood cells are devoid of mitochondria and rely on glycolysis for ATP production. The molecular basis for the selective elimination of mitochondria from mature red blood cells remains controversial. Recent evidence...

journal_title：Blood

authors： Kundu M,Lindsten T,Yang CY,Wu J,Zhao F,Zhang J,Selak MA,Ney PA,Thompson CB

更新日期：2008-08-15 00:00:00

abstract：:Congenital erythropoietic porphyria (Günther's disease) is a rare disorder of heme biosynthesis inherited in an autosomal recessive fashion. The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients. For the first patient, complementa...

journal_title：Blood

authors： Deybach JC,de Verneuil H,Boulechfar S,Grandchamp B,Nordmann Y

更新日期：1990-05-01 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

authors： Zhang Z,Ramirez NE,Yankeelov TE,Li Z,Ford LE,Qi Y,Pozzi A,Zutter MM

更新日期：2008-02-15 00:00:00

abstract：:Loss-of-function mutation in the heme oxygenase 1 (Hmox1) gene causes a rare and lethal disease in children, characterized by severe anemia and intravascular hemolysis, with damage to endothelia and kidneys. Previously, we found that macrophages engaged in recycling of red cells were depleted from the tissues of Hmox1...

journal_title：Blood

authors： Kovtunovych G,Ghosh MC,Ollivierre W,Weitzel RP,Eckhaus MA,Tisdale JF,Yachie A,Rouault TA

更新日期：2014-08-28 00:00:00

abstract：:Eosinophil accumulation has been associated with the pathogenesis of numerous allergic inflammatory disorders. Despite the great interest in this response, many aspects of eosinophil accumulation remain unknown. This is particularly true with respect to tissue-specific mechanisms that may regulate the accumulation of ...

journal_title：Blood

authors： Larbi KY,Allen AR,Tam FW,Haskard DO,Lobb RR,Silva PM,Nourshargh S

更新日期：2000-11-15 00:00:00

abstract：:Survivin and XIAP, members of the protein family known as the inhibitors of apoptosis, interfere with the activation of caspases, called the "cell death executioners." We examined Survivin (n = 116) and XIAP (n = 172) expression in primary acute myeloid leukemia (AML) blasts and assessed the impact of their expression...

journal_title：Blood

authors： Carter BZ,Kornblau SM,Tsao T,Wang RY,Schober WD,Milella M,Sung HG,Reed JC,Andreeff M

更新日期：2003-12-01 00:00:00

abstract：:We analyzed mutations of 7 vitamin K-dependent protein and cytochrome P450 2C9 genes in 45 patients and investigated whether any contribute to the large interpatient variability in the warfarin dose-effect relationship. Total clearance and daily dose, INR and INR/Cp, were used as pharmacokinetic and pharmacodynamic in...

journal_title：Blood

authors： Shikata E,Ieiri I,Ishiguro S,Aono H,Inoue K,Koide T,Ohgi S,Otsubo K

更新日期：2004-04-01 00:00:00

abstract：:Minimal residual disease (MRD) negativity, defined as <1 chronic lymphocytic leukemia (CLL) cell detectable per 10 000 leukocytes, has been shown to independently predict for clinical outcome in patients receiving combination chemoimmunotherapy in the frontline setting. However, the long-term prognostic value of MRD s...

journal_title：Blood

authors： Kwok M,Rawstron AC,Varghese A,Evans PA,O'Connor SJ,Doughty C,Newton DJ,Moreton P,Hillmen P

更新日期：2016-12-15 00:00:00

abstract：:Venous thromboembolism (VTE) is rare in healthy children, but is an increasing problem in children with underlying medical conditions. Pediatric VTE encompasses a highly heterogenous population, with variation in age, thrombosis location, and underlying medical comorbidities. Evidence from pediatric clinical trials to...

journal_title：Blood

authors： Witmer C,Raffini L

更新日期：2020-01-30 00:00:00

abstract：:Identification of receptor activator of nuclear factor-kappaB (RANK) and RANK-ligand (RANKL) has provided new insights into the osteoclast differentiation pathway. Osteoclast precursor cells were isolated using monoclonal antibodies against c-Fms and RANK, and the effect of adherence on the in vitro differentiation an...

journal_title：Blood

authors： Miyamoto T,Arai F,Ohneda O,Takagi K,Anderson DM,Suda T

更新日期：2000-12-15 00:00:00

abstract：:MRP8 and MRP14 are two S100-like calcium-binding proteins of unknown function, associated with numbers of human inflammatory disorders. Both molecules have been described as L1 complex, cystic fibrosis antigen, or p8 and p14. We report here the cloning of mouse MRP8 and MRP14 and their pattern of expression during hem...

journal_title：Blood

authors： Lagasse E,Weissman IL

更新日期：1992-04-15 00:00:00

abstract：:Among dendritic cell (DC) subsets, CD8alpha(+) DCs and plasmacytoid DCs (pDCs) produce high levels of IL12 and type I interferons (IFNs), respectively, and confer early innate immunity. Development of CD8alpha(+) DCs and pDCs requires the interferon regulatory factor 8 (IRF8). Recently, a spontaneous point mutation wa...

journal_title：Blood

authors： Tailor P,Tamura T,Morse HC 3rd,Ozato K

更新日期：2008-02-15 00:00:00

abstract：:Recently, a novel gene of the major histocompatibility complex (MHC) class I family, HFE (HLA-H), has been found to be mutated in a large proportion of hereditary hemochromatosis (HH) patients. Further support for a causative role of HFE in this disease comes from the observation that beta2-microglobulin knockout (bet...

journal_title：Blood

authors： Santos M,Clevers H,de Sousa M,Marx JJ

更新日期：1998-04-15 00:00:00