当前位置： SCI文献检索 > BLOOD期刊下所有文献 > The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.

Abstract：

:Severe congenital neutropenia as well as primary myelofibrosis are rare in infancy. Elucidation of the underlying mechanism is important because it extends our understanding of the more common adult forms of these disorders. Using homozygosity mapping followed by exome sequencing, we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia, which was refractory to granulocyte CSF, from defective platelet aggregation and myelofibrosis. The mutation segregated in the families, was not present in controls, affected a highly conserved codon, and apparently destabilized the Vps45 protein, which was reduced in the patients' leukocytes. Introduction of the corresponding mutation into yeast resulted in reduced cellular levels of Vps45 and also of the cognate syntaxin Tlg2, which is required for membrane traffic through the endosomal system. A defect in the endosomal-lysosomal pathway, the homologous system in humans, was suggested by the absence of lysosomes in the patients' fibroblasts and by the depletion of α granules in their platelets. Importantly, accelerated apoptosis was observed in the patients' neutrophils and bone marrow. This is the first report of a Vps45-related disease in humans, manifesting by neutropenia, thrombasthenia, myelofibrosis, and progressive bone marrow failure.

journal_name

Blood

journal_title

Blood

authors

Stepensky P,Saada A,Cowan M,Tabib A,Fischer U,Berkun Y,Saleh H,Simanovsky N,Kogot-Levin A,Weintraub M,Ganaiem H,Shaag A,Zenvirt S,Borkhardt A,Elpeleg O,Bryant NJ,Mevorach D

doi

10.1182/blood-2012-12-475566

subject

Has Abstract

pub_date

2013-06-20 00:00:00

pages

5078-87

issue

25

eissn

0006-4971

issn

1528-0020

pii

blood-2012-12-475566

journal_volume

121

pub_type

杂志文章

相关文献

BLOOD文献大全
  • Longer in vivo survival of CD59- and decay-accelerating factor-almost normal positive and partly positive erythrocytes in paroxysmal nocturnal hemoglobinuria as compared with negative erythrocytes: a demonstration by differential centrifugation and flow c

    abstract：:Three populations of erythrocytes have been shown by flow cytometric analysis on complement regulatory proteins: CD59 and decay-accelerating factor (DAF) on erythrocytes in paroxysmal nocturnal hemoglobinuria (PNH). CD59 and DAF in PNH may be completely deficient in CD59- and DAF-negative erythrocytes, they may be dec...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Fujioka S,Yamada T

    更新日期：1992-04-01 00:00:00

  • Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers.

    abstract：:Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phen...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood.2019003062

    authors： Fagnan A,Bagger FO,Piqué-Borràs MR,Ignacimouttou C,Caulier A,Lopez CK,Robert E,Uzan B,Gelsi-Boyer V,Aid Z,Thirant C,Moll U,Tauchmann S,Kurtovic-Kozaric A,Maciejewski J,Dierks C,Spinelli O,Salmoiraghi S,Pabst T,Shimo

    更新日期：2020-08-06 00:00:00

  • BCR ligation induced by IgM stimulation results in gene expression and functional changes only in IgV H unmutated chronic lymphocytic leukemia (CLL) cells.

    abstract：:Chronic lymphocytic leukemia (CLL) patients exhibit a variable clinical course. To investigate the association between clinicobiologic features and responsiveness of CLL cells to anti-IgM stimulation, we evaluated gene expression changes and modifications in cell-cycle distribution, proliferation, and apoptosis of IgV...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2007-12-127688

    authors： Guarini A,Chiaretti S,Tavolaro S,Maggio R,Peragine N,Citarella F,Ricciardi MR,Santangelo S,Marinelli M,De Propris MS,Messina M,Mauro FR,Del Giudice I,Foà R

    更新日期：2008-08-01 00:00:00

  • Transmaternal cell flow leads to antigen-experienced cord blood.

    abstract：:Umbilical cord blood (UCB) is used for HSCT. It is known that UCB can comprise Ag-specific T cells. Here we question whether solely transmaternal cell flow may immunize UCB. Twenty-three female UCB samples were collected from healthy mothers and analyzed for minor histocompatibility Ag HY-specific responses. Forty-two...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2012-02-410571

    authors： Dierselhuis MP,Blokland EC,Pool J,Schrama E,Scherjon SA,Goulmy E

    更新日期：2012-07-19 00:00:00

  • Subtractive hybridization reveals the expression of immunoglobulin-like transcript 7, Eph-B1, granzyme B, and 3 novel transcripts in human plasmacytoid dendritic cells.

    abstract：:Recent studies in humans have highlighted the importance of a distinct cellular entity, the plasmacytoid dendritic cell (PDC). To identify genes for which expression is restricted to human PDCs, a cDNA subtraction technique was applied using cDNA from activated monocyte-derived DCs (MDDCs) as competitor. In the 650 se...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2002-02-0638

    authors： Rissoan MC,Duhen T,Bridon JM,Bendriss-Vermare N,Péronne C,de Saint Vis B,Brière F,Bates EE

    更新日期：2002-11-01 00:00:00

  • B cells in early and chronic HIV infection: evidence for preservation of immune function associated with early initiation of antiretroviral therapy.

    abstract：:Characterization of lymphocytes including B cells during early versus chronic HIV infection is important for understanding the impact of chronic viremia on immune cell function. In this setting, we investigated B cells before and after reduction of HIV plasma viremia by antiretroviral therapy (ART). At baseline, perip...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2010-05-285528

    authors： Moir S,Buckner CM,Ho J,Wang W,Chen J,Waldner AJ,Posada JG,Kardava L,O'Shea MA,Kottilil S,Chun TW,Proschan MA,Fauci AS

    更新日期：2010-12-16 00:00:00

  • Liposomal ET-18-OCH(3) induces cytochrome c-mediated apoptosis independently of CD95 (APO-1/Fas) signaling.

    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：

    authors： Cuvillier O,Mayhew E,Janoff AS,Spiegel S

    更新日期：1999-11-15 00:00:00

  • The ontogeny of a 57-Kd cationic antimicrobial protein of human polymorphonuclear leukocytes: localization to a novel granule population.

    abstract：:The ontogeny of a 57-Kd cationic antimicrobial protein (CAP57) that has substantial similarities to bactericidal permeability increasing protein (BPI) has been determined immunocytochemically. CAP57 was detected in the granules of mature peripheral blood neutrophils. However, it was absent from other cells of the peri...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Pereira HA,Spitznagel JK,Winton EF,Shafer WM,Martin LE,Guzman GS,Pohl J,Scott RW,Marra MN,Kinkade JM Jr

    更新日期：1990-08-15 00:00:00

  • Solution structure of the major factor VIII binding region on von Willebrand factor.

    abstract：:Although much of the function of von Willebrand factor (VWF) has been revealed, detailed insight into the molecular structure that enables VWF to orchestrate hemostatic processes, in particular factor VIII (FVIII) binding and stabilization in plasma, is lacking. Here, we present the high-resolution solution structure ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2013-07-517086

    authors： Shiltagh N,Kirkpatrick J,Cabrita LD,McKinnon TA,Thalassinos K,Tuddenham EG,Hansen DF

    更新日期：2014-06-26 00:00:00

  • A monoclonal antibody (LYP18) directed against the blood platelet glycoprotein IIb/IIIa complex inhibits human melanoma growth in vivo.

    abstract：:A monoclonal antibody (MoAb) (LYP18), generated against human platelet glycoprotein IIb/IIIa (GPIIb/IIIa), immuno-precipitated a IIb/IIIa-like GP complex from a highly tumorigenic human melanoma cell line (M3Dau). The M3Dau melanoma cells specifically bound 125I-labeled LYP18. To study the biologic role of these IIb/I...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Boukerche H,Berthier-Vergnes O,Bailly M,Doré JF,Leung LL,McGregor JL

    更新日期：1989-08-15 00:00:00

  • Function of wild-type or mutant Rac2 and Rap1a GTPases in differentiated HL60 cell NADPH oxidase activation.

    abstract：:Studies of neutrophil nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activation in a cell-free system showed that the low molecular-weight guanosine triphosphatase (GTPase) Rac was required, and that Rap1a may participate in activation of the catalytic complex. Full-length posttranslationally modified Rac...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Gabig TG,Crean CD,Mantel PL,Rosli R

    更新日期：1995-02-01 00:00:00

  • Therapy of relapsed leukemia after allogeneic hematopoietic cell transplantation with T cells specific for minor histocompatibility antigens.

    abstract：:The adoptive transfer of donor T cells that recognize recipient minor histocompatibility antigens (mHAgs) is a potential strategy for preventing or treating leukemic relapse after allogeneic hematopoietic cell transplantation (HCT). A total of 7 patients with recurrent leukemia after major histocompatibility complex (...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2009-10-248997

    authors： Warren EH,Fujii N,Akatsuka Y,Chaney CN,Mito JK,Loeb KR,Gooley TA,Brown ML,Koo KK,Rosinski KV,Ogawa S,Matsubara A,Appelbaum FR,Riddell SR

    更新日期：2010-05-13 00:00:00

  • Sex hormones and the regulation of erythroid spleen colonies development of fetal liver origin.

    abstract：:The development of erythroid colonies of fetal liver hemopoietic cell origin in adult irradiated polycythemic mice was studied. It was found that orchidectomy sharply reduced the number of erythroid colonies developed in the spleen of these polycythemic male recipients. Estrogen injection to the orchidectomized polycy...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Bleiberg I,Perah G

    更新日期：1975-04-01 00:00:00

  • The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects.

    abstract：:1-deamino-8-d-arginine vasopressin (desmopressin [DDAVP]) is clinically efficacious in patients with mild platelet function disorders but it is not known which mechanisms mediate this effect. Our aim was to evaluate the impact of in vivo DDAVP administration in these patients. We assessed von Willebrand factor (VWF), ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2013-04-497123

    authors： Colucci G,Stutz M,Rochat S,Conte T,Pavicic M,Reusser M,Giabbani E,Huynh A,Thürlemann C,Keller P,Alberio L

    更新日期：2014-03-20 00:00:00

  • N-Glycans of ADAMTS13 modulate its secretion and von Willebrand factor cleaving activity.

    abstract：:Severe deficiency of ADAMTS13, a plasma metalloprotease, leads to thrombotic thrombocytopenic purpura. ADAMTS13 contains 10 putative N-glycosylation sites in or near its metalloprotease sequence, spacer region, thrombospondin type 1 repeat no. 4 (TSR no. 4), and CUB domains. Tunicamycin treatment markedly decreased th...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2008-07-167775

    authors： Zhou W,Tsai HM

    更新日期：2009-01-22 00:00:00

  • SPI-CI and SPI-6 cooperate in the protection from effector cell-mediated cytotoxicity.

    abstract：:Tumors have several mechanisms to escape from the immune system. One of these involves expression of intracellular anticytotoxic proteins that modulate the execution of cell death. Previously, we have shown that the serine protease inhibitor (serpin) SPI-6, which inactivates the cytotoxic protease granzyme B (GrB), is...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2004-03-0791

    authors： Bots M,Kolfschoten IG,Bres SA,Rademaker MT,de Roo GM,Krüse M,Franken KL,Hahne M,Froelich CJ,Melief CJ,Offringa R,Medema JP

    更新日期：2005-02-01 00:00:00

  • Necdin, a p53 target gene, regulates the quiescence and response to genotoxic stress of hematopoietic stem/progenitor cells.

    abstract：:We recently defined a critical role for p53 in regulating the quiescence of adult hematopoietic stem cells (HSCs) and identified necdin as a candidate p53 target gene. Necdin is a growth-suppressing protein and the gene encoding it is one of several that are deleted in patients with Prader-Willi syndrome. To define th...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2011-11-393983

    authors： Asai T,Liu Y,Di Giandomenico S,Bae N,Ndiaye-Lobry D,Deblasio A,Menendez S,Antipin Y,Reva B,Wevrick R,Nimer SD

    更新日期：2012-08-23 00:00:00

  • Evaluation and clinical correlations of bone marrow angiogenesis in myelofibrosis with myeloid metaplasia.

    abstract：:Recent observations have underscored the biologic relevance of intratumoral angiogenesis and its potential impact on prognosis. Increased bone marrow angiogenesis has been demonstrated in a variety of hematologic disorders, including multiple myeloma. The extent and prognostic significance of bone marrow angiogenesis ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Mesa RA,Hanson CA,Rajkumar SV,Schroeder G,Tefferi A

    更新日期：2000-11-15 00:00:00

  • A lower molecular weight gamma-chain variant in a congenital abnormal fibrinogen (Kyoto).

    abstract：:A gamma-chain variant with a lower molecular weight than the normal gamma chain was detected in a new congenital abnormal fibrinogen with impaired polymerization of the fibrin monomer and with normal release of fibrinopeptides A and B in a 45-year-old male. Purified fibrinogen analyzed on SDS-polyacrylamide gel electr...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Yoshida N,Okuma M,Moroi M,Matsuda M

    更新日期：1986-09-01 00:00:00

  • Identification of a specific HLA class II haplotype strongly associated with susceptibility to cyclosporine-dependent aplastic anemia.

    abstract：:Hematopoietic function of some aplastic anemia (AA) patients is dependent on the administration of cyclosporine (CyA). To investigate whether certain HLA class II genes are associated with susceptibility to such CyA-dependent AA, we determined the HLA class II alleles of 59 AA patients treated with CyA. Among 26 patie...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Nakao S,Takamatsu H,Chuhjo T,Ueda M,Shiobara S,Matsuda T,Kaneshige T,Mizoguchi H

    更新日期：1994-12-15 00:00:00

  • Human CD34+ fetal liver stem cells differentiate to T cells in a mouse thymic microenvironment.

    abstract：:Hematopoietic stem cells differentiate in the thymus to T cells along precisely defined intermediates. This process is thymic epithelium dependent and involves cytokines and cell-cell interactions between thymic stroma and T-cell precursors. Here we report that highly purified human CD34++ fetal liver stem cells diffe...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Plum J,De Smedt M,Defresne MP,Leclercq G,Vandekerckhove B

    更新日期：1994-09-01 00:00:00

  • Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis.

    abstract：:The membrane skeleton of normal erythrocytes is largely organized into a hexagonal lattice of junctional complexes (JC) crosslinked by spectrin tetramers, and occasional double tetramers and hexamers. To explore possible skeletal alterations in hereditary spherocytosis (HS), elliptocytosis (HE), and pyropoikilocytosis...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Liu SC,Derick LH,Agre P,Palek J

    更新日期：1990-07-01 00:00:00

  • Isolated follicular lymphoma cells are resistant to apoptosis and can be grown in vitro in the CD40/stromal cell system.

    abstract：:Low-grade follicular non-Hodgkin's lymphomas are characterized by the presence of a t(14;18) chromosomal translocation that results in deregulation of the B-cell lymphoma (Bcl-2) gene. Studies in cell lines and transgenic animal models have suggested that this results in the suppression of apoptotic cell death in germ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Johnson PW,Watt SM,Betts DR,Davies D,Jordan S,Norton AJ,Lister TA

    更新日期：1993-09-15 00:00:00

  • Delta-like1-induced Notch1 signaling regulates the human plasmacytoid dendritic cell versus T-cell lineage decision through control of GATA-3 and Spi-B.

    abstract：:Human early thymic precursors have the potential to differentiate into multiple cell lineages, including T cells and plasmacytoid dendritic cells (pDCs). This decision is guided by the induction or silencing of lineage-specific transcription factors. The ETS family member Spi-B is a key regulator of pDC development, w...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2005-05-2090

    authors： Dontje W,Schotte R,Cupedo T,Nagasawa M,Scheeren F,Gimeno R,Spits H,Blom B

    更新日期：2006-03-15 00:00:00

  • JAK2 inhibitors for myeloproliferative neoplasms: what is next?

    abstract：:Since its approval in 2011, the Janus kinase 1/2 (JAK1/2) inhibitor ruxolitinib has evolved to become the centerpiece of therapy for myelofibrosis (MF), and its use in patients with hydroxyurea resistant or intolerant polycythemia vera (PV) is steadily increasing. Several other JAK2 inhibitors have entered clinical te...

    journal_title：Blood

    pub_type： 杂志文章,评审

    doi：10.1182/blood-2017-04-742288

    authors： Bose P,Verstovsek S

    更新日期：2017-07-13 00:00:00

  • Found: a cellular activating ligand for NKp44.

    abstract：:In this issue of Blood, Baychelier et al identify a ligand for a major natural killer (NK) cell receptor that mediates natural cytotoxicity toward tumor cells, thus ending a search that lasted well over a decade. ...

    journal_title：Blood

    pub_type： 评论,杂志文章

    doi：10.1182/blood-2013-09-523696

    authors： Rajagopalan S,Long EO

    更新日期：2013-10-24 00:00:00

  • IL-1β, in contrast to TNFα, is pivotal in blood-induced cartilage damage and is a potential target for therapy.

    abstract：:Joint bleeding after (sports) trauma, after major joint surgery, or as seen in hemophilia in general leads to arthropathy. Joint degeneration is considered to result from the direct effects of blood components on cartilage and indirectly from synovial inflammation. Blood-provided proinflammatory cytokines trigger chon...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2015-03-635524

    authors： van Vulpen LF,Schutgens RE,Coeleveld K,Alsema EC,Roosendaal G,Mastbergen SC,Lafeber FP

    更新日期：2015-11-05 00:00:00

  • Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

    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

    pub_type： 杂志文章

    doi：

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

    更新日期：1990-05-01 00:00:00

  • Aberrant and unstable expression of immunoglobulin genes in persons infected with human immunodeficiency virus.

    abstract：:We examined the IgM VH gene subgroup use-distribution in serial blood samples of 37 human immunodeficiency virus (HIV)-infected patients and a group of HIV-seronegative healthy adults. The IgM VH gene repertoires of healthy adults were relatively similar to one another and were stable over time. In contrast, individua...

    journal_title：Blood

    pub_type： 杂志文章

    doi：

    authors： Bessudo A,Rassenti L,Havlir D,Richman D,Feigal E,Kipps TJ

    更新日期：1998-08-15 00:00:00

  • Isolation and characterization of endosteal niche cell populations that regulate hematopoietic stem cells.

    abstract：:The endosteal niche is critical for the maintenance of hematopoietic stem cells (HSCs). However, it consists of a heterogeneous population in terms of differentiation stage and function. In this study, we characterized endosteal cell populations and examined their ability to maintain HSCs. Bone marrow endosteal cells ...

    journal_title：Blood

    pub_type： 杂志文章

    doi：10.1182/blood-2009-08-239194

    authors： Nakamura Y,Arai F,Iwasaki H,Hosokawa K,Kobayashi I,Gomei Y,Matsumoto Y,Yoshihara H,Suda T

    更新日期：2010-09-02 00:00:00