A unique 7p/12q chromosomal abnormality associated with recurrent abortion and hypofibrinogenemia.

Abstract:

:Recurrent first trimester abortions led to evaluation of a 25-year-old woman. Studies revealed she had hypofibrinogenemia (68 mg/dL) without evidence of dysfibrinogenemia or increased fibrinogen turnover. She was also found to have a unique 46,XX, t(7;12) (p 15.2;q24.31) karyotype. Hypofibrinogenemia and identical chromosomal abnormalities were found in other members of her kindred. Southern blots of genomic DNA from the patient, her mother, and her daughter hybridized to human fibrinogen probes showed alpha, beta, and gamma fibrinogen genes to be present and without structural alterations when compared to normal controls. We conclude that the chromosomal abnormality and the hypofibrinogenemia are related but in an unclear manner. Because fibrinogen infusion in the proposita was associated with successful gestation, we also concluded that the chromosomal abnormality itself was not responsible for the repeated abortions but that fibrinogen concentration may be critical in securing implantation.

journal_name

Blood

journal_title

Blood

authors

Kitchens CS,Cruz AC,Kant JA

subject

Has Abstract

pub_date

1987-10-01 00:00:00

pages

921-5

issue

4

eissn

0006-4971

issn

1528-0020

journal_volume

70

pub_type

杂志文章

相关文献

BLOOD文献大全
  • Specific iron chelators determine the route of ferritin degradation.

    abstract::Deferoxamine (DFO) is a high-affinity Fe (III) chelator produced by Streptomyces pilosus. DFO is used clinically to remove iron from patients with iron overload disorders. Orally administered DFO cannot be absorbed, and therefore it must be injected. Here we show that DFO induces ferritin degradation in lysosomes thro...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-05-224188

    authors: De Domenico I,Ward DM,Kaplan J

    更新日期:2009-11-12 00:00:00

  • Relapse risk following truncation of PEG-asparaginase in childhood acute lymphoblastic leukemia.

    abstract::Truncation of asparaginase treatment due to asparaginase related toxicities or silent inactivation (SI) is common and may increase relapse risk in acute lymphoblastic leukemia (ALL). We investigated relapse risk following suboptimal asparaginase exposure among 1401 children aged 1-17 years, diagnosed with ALL between ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.2020006583

    authors: Gottschalk Højfeldt S,Grell K,Abrahamsson J,Lund B,Vettenranta K,Jonsson OG,Frandsen TL,Wolthers BO,Marquart HVH,Vaitkeviciene G,Lepik K,Heyman M,Schmiegelow K,Albertsen BK

    更新日期:2020-11-04 00:00:00

  • The clinical significance of EBV DNA in the plasma and peripheral blood mononuclear cells of patients with or without EBV diseases.

    abstract::Epstein-Barr virus (EBV) is a ubiquitous virus that establishes a latent infection within the host and in some cases can lead to the development of EBV-associated lymphomas, lymphoproliferative disorders, hemophagocytic lymphohistiocytosis, solid tumors, and other diseases. We studied the clinical significance of dete...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2015-09-672030

    authors: Kanakry JA,Hegde AM,Durand CM,Massie AB,Greer AE,Ambinder RF,Valsamakis A

    更新日期:2016-04-21 00:00:00

  • Mcl-1 expression in human neutrophils: regulation by cytokines and correlation with cell survival.

    abstract::Human neutrophils possess a very short half-life because they constitutively undergo apoptosis. Cytokines, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), and other agents can rescue neutrophils from apoptosis but the molecular mechanisms involved in this rescue are undefined. Here, we show by Weste...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Moulding DA,Quayle JA,Hart CA,Edwards SW

    更新日期:1998-10-01 00:00:00

  • Human granulocyte colony-stimulating factor: biologic activities and receptor characterization on hematopoietic cells and small cell lung cancer cell lines.

    abstract::Human granulocyte colony-stimulating factor (G-CSF) is a regulatory glycoprotein that stimulates the production of neutrophilic granulocytes from committed hematopoietic progenitor cells both in vitro and in vivo. In this report, we show that biosynthetic (recombinant) human G-CSF enhances colony formation by normal h...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Avalos BR,Gasson JC,Hedvat C,Quan SG,Baldwin GC,Weisbart RH,Williams RE,Golde DW,DiPersio JF

    更新日期:1990-02-15 00:00:00

  • Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

    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 SL...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-12-326645

    authors: 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 LJ

    更新日期:2011-11-10 00:00:00

  • GATA factor mutations in hematologic disease.

    abstract::GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1, 2, and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 ...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2016-09-687889

    authors: Crispino JD,Horwitz MS

    更新日期:2017-04-13 00:00:00

  • Striking inverse correlation between IgG anti-F(ab')2 and autoantibody production in patients with cold agglutination.

    abstract::Previous experiments showed that the physiologic IgG anti-F(ab')2 antibody suppresses the response of human autoreactive B cells. In the present study, we analyzed the IgG anti-F(ab')2 antibody in 293 patients with cold agglutination (CA). Their average IgG anti-F(ab')2 titer was not much different (211 +/- 8.3) from ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Terness P,Kirschfink M,Navolan D,Dufter C,Kohl I,Opelz G,Roelcke D

    更新日期:1995-01-15 00:00:00

  • Mutations of the N-ras gene in juvenile chronic myelogenous leukemia.

    abstract::Juvenile chronic myelogenous leukemia (JCML), a myeloproliferative disorder of childhood, is distinct from adult-type chronic myelogenous leukemia (CML) and bears resemblance to chronic myelomonocytic leukemia (CMMoL). Since mutations in the N-ras gene have been found at high frequencies in CMMoL, but only rarely in C...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Miyauchi J,Asada M,Sasaki M,Tsunematsu Y,Kojima S,Mizutani S

    更新日期:1994-04-15 00:00:00

  • Identification of stromal cell precursors in human bone marrow by a novel monoclonal antibody, STRO-1.

    abstract::Murine IgM monoclonal antibody STRO-1 identifies a cell surface antigen expressed by stromal elements in human bone marrow (BM). STRO-1 binds to approximately 10% of BM mononuclear cells, greater than 95% of which are nucleated erythroid precursors, but does not react with committed progenitor cells (colony-forming un...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Simmons PJ,Torok-Storb B

    更新日期:1991-07-01 00:00:00

  • Efficient in vivo marking of primary CD4+ T lymphocytes in nonhuman primates using a gibbon ape leukemia virus-derived retroviral vector.

    abstract::High efficiency retroviral-mediated gene transfer to rhesus CD4+ peripheral blood lymphocytes (PBL) was accomplished using an optimized transduction protocol using a gibbon ape leukemia virus (GaLV) envelope-containing packaging cell line PG13. Engineered CD4+ PBL were administered to three nonmyeloablated animals in ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Bunnell BA,Metzger M,Byrne E,Morgan RA,Donahue RE

    更新日期:1997-03-15 00:00:00

  • Identification of neutrophil gelatinase-associated lipocalin as a novel matrix protein of specific granules in human neutrophils.

    abstract::Neutrophil gelatinase-associated lipocalin (NGAL) is a novel 25-kD protein of human neutrophils, that is in part covalently complexed with neutrophil gelatinase. However, both NGAL and gelatinase exist mainly in forms not associated with each other. An explanation for this phenomenon might be that the unassociated pro...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Kjeldsen L,Bainton DF,Sengeløv H,Borregaard N

    更新日期:1994-02-01 00:00:00

  • SH2 domain-mediated targeting, but not localization, of Syk in the plasma membrane is critical for FcepsilonRI signaling.

    abstract::Aggregation of the high-affinity IgE receptor induces the tyrosine phosphorylation of subunits of the receptor and the subsequent association with the receptor of the cytosolic protein tyrosine kinase Syk. The current experiments examined the functional importance of membrane association of Syk and the role of the SH2...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v97.5.1352

    authors: Sada K,Zhang J,Siraganian RP

    更新日期:2001-03-01 00:00:00

  • Gossypin, a pentahydroxy glucosyl flavone, inhibits the transforming growth factor beta-activated kinase-1-mediated NF-kappaB activation pathway, leading to potentiation of apoptosis, suppression of invasion, and abrogation of osteoclastogenesis.

    abstract::Gossypin, a flavone originally isolated from Hibiscus vitifolius, has been shown to suppress angiogenesis, inflammation, and carcinogenesis. The mechanisms of these activities, however, are unknown. Because nuclear factor-kappaB (NF-kappaB) is associated with inflammation, carcinogenesis, hyperproliferation, invasion,...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2007-01-067256

    authors: Kunnumakkara AB,Nair AS,Ahn KS,Pandey MK,Yi Z,Liu M,Aggarwal BB

    更新日期:2007-06-15 00:00:00

  • Human skin-derived mast cells can proliferate while retaining their characteristic functional and protease phenotypes.

    abstract::Human mast cells in adult tissues have been thought to have limited, if any, proliferative potential. The current study examined mast cells obtained from adult skin and cultured in serum-free medium with recombinant human stem cell factor. During the first 4 weeks of culture, the percentages of mast cells increased fr...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v97.7.2045

    authors: Kambe N,Kambe M,Kochan JP,Schwartz LB

    更新日期:2001-04-01 00:00:00

  • The tumor vascular targeting agent combretastatin A-4-phosphate induces reorganization of the actin cytoskeleton and early membrane blebbing in human endothelial cells.

    abstract::Combretastatin A-4-phosphate (CA-4-P) is a tubulin-binding compound currently in clinical trial as a tumor vascular-targeting agent. In endothelial cells, CA-4-P is known to cause microtubule depolymerization, but little is known about its subsequent effects on cell morphology and function. Here, we demonstrate that w...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v99.6.2060

    authors: Kanthou C,Tozer GM

    更新日期:2002-03-15 00:00:00

  • Thrombin overcomes the thrombosis defect associated with platelet GPVI/FcRgamma deficiency.

    abstract::Fibrillar collagens are among the most potent activators of platelets and play an important role in the initiation of thrombosis. The glycoprotein VI (GPVI)/FcRgamma-chain complex is a central collagen receptor and inhibitors of GPVI produce a major defect in arterial thrombogenesis. In this study we have examined art...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-10-4244

    authors: Mangin P,Yap CL,Nonne C,Sturgeon SA,Goncalves I,Yuan Y,Schoenwaelder SM,Wright CE,Lanza F,Jackson SP

    更新日期:2006-06-01 00:00:00

  • Antibody-based inhibition of DKK1 suppresses tumor-induced bone resorption and multiple myeloma growth in vivo.

    abstract::Dickkopf-1 (DKK1), a soluble inhibitor of Wnt signaling secreted by multiple myeloma (MM) cells contributes to osteolytic bone disease by inhibiting the differentiation of osteoblasts. In this study, we tested the effect of anti-DKK1 therapy on bone metabolism and tumor growth in a SCID-rab system. SCID-rab mice were ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2006-09-047712

    authors: Yaccoby S,Ling W,Zhan F,Walker R,Barlogie B,Shaughnessy JD Jr

    更新日期:2007-03-01 00:00:00

  • Myeloma bone marrow plasma cells: evidence for their capacity as antigen-presenting cells.

    abstract::Myeloma plasma cells constitute 10% to 90% of the total bone marrow cell count in patients with multiple myeloma (MM). These cells express a variety of cell surface markers, such as HLA-ABC and HLA-DR, and surface antigens that are necessary for professional antigen-presenting cells, including adhesion and costimulato...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Yi Q,Dabadghao S,Osterborg A,Bergenbrant S,Holm G

    更新日期:1997-09-01 00:00:00

  • Interleukin-24 inhibits the plasma cell differentiation program in human germinal center B cells.

    abstract::Complex molecular mechanisms control B-cell fate to become a memory or a plasma cell. Interleukin-24 (IL-24) is a class II family cytokine of poorly understood immune function that regulates the cell cycle. We previously observed that IL-24 is strongly expressed in leukemic memory-type B cells. Here we show that IL-24...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-05-220251

    authors: Maarof G,Bouchet-Delbos L,Gary-Gouy H,Durand-Gasselin I,Krzysiek R,Dalloul A

    更新日期:2010-03-04 00:00:00

  • Neddylation plays an important role in the regulation of murine and human dendritic cell function.

    abstract::Posttranslational protein modifications (PTMs) are necessary for cells to function properly. The role of PTMs in regulating immune responses, specifically those mediated by dendritic cells (DCs), which are critical for both innate and adaptive immunity, is not well understood. Utilizing multiple but complementary appr...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2013-02-486373

    authors: Mathewson N,Toubai T,Kapeles S,Sun Y,Oravecz-Wilson K,Tamaki H,Wang Y,Hou G,Sun Y,Reddy P

    更新日期:2013-09-19 00:00:00

  • Retroviral-mediated transfer of the green fluorescent protein gene into murine hematopoietic cells facilitates scoring and selection of transduced progenitors in vitro and identification of genetically modified cells in vivo.

    abstract::We have investigated the utility of the green fluorescent protein (GFP) to serve as a marker to assess retroviral gene transfer into hematopoietic cells and as a tool to identify and enrich for cells expressing high levels of the vector-encoded transcript. GFP, by virtue of a naturally occurring chromophore encoded in...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Persons DA,Allay JA,Allay ER,Smeyne RJ,Ashmun RA,Sorrentino BP,Nienhuis AW

    更新日期:1997-09-01 00:00:00

  • Characterization of human platelet glycoprotein antigens giving rise to individual immunoprecipitates in crossed-immunoelectrophoresis.

    abstract::Washed human platelets were labeled with 125I by the lactoperoxidase-catalyzed method and solubilized in 1% Triton X-100. The soluble proteins were analyzed by crossed-immunoelectrophoresis in 1% agarose, employing a rabbit antibody raised against whole human platelets. Analysis of autoradiograms developed from dried ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Kunicki TJ,Nurden AT,Pidard D,Russell NR,Caen JP

    更新日期:1981-12-01 00:00:00

  • Acidic isoferritins and E-type prostaglandins in sources of colony stimulatory factors mask detection of cycling granulocyte-macrophage progenitor cells.

    abstract::The effect of granulocyte-macrophage colony stimulatory factors (GM-CSF), acidic isoferritins, and E-type prostaglandins on the detection of the cycle status of human granulocyte-macrophage progenitor cells (CFU-GM) was investigated. Bone marrow cells were pulse-treated with control medium or high specific activity tr...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Broxmeyer HE

    更新日期:1982-10-01 00:00:00

  • Ontogeny of CD4+CD25+ regulatory/suppressor T cells in human fetuses.

    abstract::Little is known about the ontogeny of naturally occurring CD4(+)CD25(+) regulatory/suppressor T cells that play a major role in maintaining self-tolerance in mice and humans. In rodents, thymectomy on day 3 of life leads to multiple organ-specific autoimmune diseases that can be prevented by adoptive transfer of regul...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2004-10-4051

    authors: Darrasse-Jèze G,Marodon G,Salomon BL,Catala M,Klatzmann D

    更新日期:2005-06-15 00:00:00

  • Inhibition of heparanase-mediated degradation of extracellular matrix heparan sulfate by non-anticoagulant heparin species.

    abstract::Incubation of human platelets, human neutrophils, or highly metastatic mouse lymphoma cells with sulfate-labeled extracellular matrix (ECM) results in heparanase-mediated release of labeled heparan sulfate cleavage fragments (0.5 less than Kav less than 0.85 on Sepharose 6B). This degradation was inhibited by native h...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Bar-Ner M,Eldor A,Wasserman L,Matzner Y,Cohen IR,Fuks Z,Vlodavsky I

    更新日期:1987-08-01 00:00:00

  • Obinutuzumab plus fludarabine/cyclophosphamide or bendamustine in the initial therapy of CLL patients: the phase 1b GALTON trial.

    abstract::Obinutuzumab is a type 2, glycoengineered, anti-CD20 antibody recently approved with chlorambucil for the initial therapy of chronic lymphocytic leukemia (CLL). In this nonrandomized, parallel-cohort, phase 1b, multicenter study, we explored the safety and preliminary efficacy of obinutuzumab-bendamustine (G-B) or obi...

    journal_title:Blood

    pub_type: 杂志文章,多中心研究

    doi:10.1182/blood-2014-12-613570

    authors: Brown JR,O'Brien S,Kingsley CD,Eradat H,Pagel JM,Lymp J,Hirata J,Kipps TJ

    更新日期:2015-04-30 00:00:00

  • Effect of protein deprivation on erythropoiesis.

    abstract::The effects of protein deprivation on erythropoietin (Ep) production were studied. The posthypoxia plasma Ep levels of rats fed a protein-free diet for only 1 day prior to being exposed to 0.5 atmosphere for 7 hr were significantly lower than those of comparably hypoxic rats maintained on a normal diet. The postthypox...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Anagnostou A,Schade S,Ashkinaz M,Barone J,Fried W

    更新日期:1977-12-01 00:00:00

  • Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.

    abstract::The Augustine-negative alias At(a-) blood type, which seems to be restricted to people of African ancestry, was identified half a century ago but remains one of the last blood types with no known genetic basis. Here we report that a nonsynonymous single nucleotide polymorphism in SLC29A1 (rs45458701) is responsible fo...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2015-03-631598

    authors: Daniels G,Ballif BA,Helias V,Saison C,Grimsley S,Mannessier L,Hustinx H,Lee E,Cartron JP,Peyrard T,Arnaud L

    更新日期:2015-06-04 00:00:00

  • Study of the CD3-associated T-cell receptors reveals further differences between T-cell acute lymphoblastic lymphoma and leukemia.

    abstract::We show further differences between two clinically related entities, T-cell acute lymphoblastic leukemia (T-ALL) and lymphoblastic lymphoma (T-LL), by using several monoclonal antibodies (MoAbs) reacting with either constant or variable regions of T-cell receptors (TcR) alpha beta and gamma delta or with various CD mo...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Gouttefangeas C,Bensussan A,Boumsell L

    更新日期:1990-02-15 00:00:00