Antithrombins Southport (Leu 99 to Val) and Vienna (Gln 118 to Pro): two novel antithrombin variants with abnormal heparin binding.

Abstract:

:We report the characterization of three variant antithrombins with reduced heparin binding as the primary abnormality. Two of these variants, antithrombin Southport (Leu 99 to Val, 2759 C to G) and antithrombin Vienna (Gln 118 to Pro, 5349 A to C) were novel, whereas the third, Pro 41 to Leu, has been previously described as antithrombin Basel. All three variants exhibited reduced binding for heparin on crossed immunoelectrophoresis and in a quantitative monoclonal antibody-based assay. The mutations were characterized by direct sequence analysis of enzymatically amplified genomic DNA and all affected individuals were heterozygous for the mutations. These three mutations do not occur at the sites of the basic amino acids directly involved in heparin binding nor do they result in a change in charge of the affected residue. It seems probable that they reduce heparin affinity either by perturbing the initial contact site involved in the heparin-binding domain (Arg 47, Arg 129 and possibly Arg 24), or by preventing the subsequent heparin-induced conformational change.

journal_name

Br J Haematol

authors

Chowdhury V,Mille B,Olds RJ,Lane DA,Watton J,Barrowcliffe TW,Pabinger I,Woodcock BE,Thein SL

doi

10.1111/j.1365-2141.1995.tb08369.x

subject

Has Abstract

pub_date

1995-03-01 00:00:00

pages

602-9

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

89

pub_type

杂志文章
  • Administration of G-CSF to healthy subjects: the effects on eosinophil counts and mobilization of eosinophil granule proteins.

    abstract::Any influence of G-CSF on eosinophils is mostly negative, although reports which have studied this relationship are few with varied results. The aim of this study was to investigate the influence of G-CSF administration to healthy subjects on eosinophils in peripheral blood. Blood eosinophil counts, serum levels of eo...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.d01-2045.x

    authors: Karawajczyk M,Höglund M,Ericsson J,Venge P

    更新日期:1997-02-01 00:00:00

  • Thrombocytopenia associated with gold therapy: a drug-induced autoimmune disease?

    abstract::We studied 13 patients with rheumatoid arthritis (RA) and gold-induced thrombocytopenia. Platelet-specific autoantibodies of the IgG and often also of the IgM class were detected by immunofluorescence on the patient's platelets and in ether eluates from these platelets. In nine patients we also detected autoantibodies...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1986.tb07528.x

    authors: von dem Borne AE,Pegels JG,van der Stadt RJ,van der Plas-van Dalen CM,Helmerhorst FM

    更新日期:1986-07-01 00:00:00

  • Changes in the activities of some membrane-associated enzymes during in vivo ageing of the normal human erythrocyte.

    abstract::Human erythrocytes from healthy male donors were fractionated with respect to in vivo age by simple centrifugation in order to characterize changes in the functional integrity of the membrane during the life-span of the cell. The three enzymes, Na/K-ATPase, glyceraldehyde-3-phosphate dehydrogenase and NADH-ferricyanid...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:

    authors: Kadlubowski M,Agutter PS

    更新日期:1977-09-01 00:00:00

  • Apoptosis in chronic myeloid leukaemia: normal responses by progenitor cells to growth factor deprivation, X-irradiation and glucocorticoids.

    abstract::Inhibition of apoptosis (genetically programmed active cell death) by p210 BCR-ABL expression is a mechanism that might contribute to clonal expansion in chronic myeloid leukaemia (CML). Since cell death following exposure to ionizing radiation and many chemotherapeutic agents can occur by the apoptotic pathway, inhib...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb05308.x

    authors: Amos TA,Lewis JL,Grand FH,Gooding RP,Goldman JM,Gordon MY

    更新日期:1995-10-01 00:00:00

  • Complementarity determining region-III is a useful molecular marker for the evaluation of minimal residual disease in mantle cell lymphoma.

    abstract::Bone marrow (BM) and peripheral blood (PB) involvement in 10 patients with mantle cell lymphoma (MCL) was analysed by a polymerase chain reaction (PCR)-mediated RNase protection assay. The complementarity determining regions (CDR)-III of all 10 MCLs examined was amplified efficiently with consensus V(H) and J(H) prime...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.2133030.x

    authors: Kurokawa T,Kinoshita T,Murate T,Nagasaka T,Kagami Y,Ogura M,Nakamura S,Seto M,Hotta T,Saito H

    更新日期:1997-08-01 00:00:00

  • Dendritic cells in acute promyelocytic leukaemia.

    abstract::Dendritic cell (DC) differentiation was investigated in samples from two acute promyelocytic leukaemia (APL) patients with classic translocation t(15;17)(q22;q21). After 18 d of culture in the presence of granulocyte-macrophage colony-stimulating factor, interleukin 4 and tumour necrosis factor alpha, 10-15% of pathol...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.03023.x

    authors: Rigolin GM,Della Porta M,Bigoni R,Tieghi A,Cuneo A,Castoldi G

    更新日期:2001-09-01 00:00:00

  • Plasma levels and production of soluble stem cell factor by marrow stromal cells in patients with aplastic anaemia.

    abstract::Defective marrow stroma or microenvironment have been proposed as one of several mechanisms to account for bone marrow failure in aplastic anaemia (AA). Stem cell factor (SCF), the ligand for the c-kit receptor, is produced mainly by marrow stromal cells and seems to reflect the haemopoietic function of bone marrow st...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.4163223.x

    authors: Kojima S,Matsuyama T,Kodera Y

    更新日期:1997-11-01 00:00:00

  • Patients with chronic lymphocytic leukaemia and clonal deletion of both 17p13.1 and 11q22.3 have a very poor prognosis.

    abstract::Detection of a 17p13.1 deletion (loss of TP53) or 11q22.3 deletion (loss of ATM), by fluorescence in situ hybridization (FISH), in chronic lymphocytic leukaemia (CLL) patients is associated with a poorer prognosis. Because TP53 and ATM are integral to the TP53 pathway, we hypothesized that 17p13.1- (17p-) and 11q22.3-...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12534

    authors: Greipp PT,Smoley SA,Viswanatha DS,Frederick LS,Rabe KG,Sharma RG,Slager SL,Van Dyke DL,Shanafelt TD,Tschumper RC,Zent CS

    更新日期:2013-11-01 00:00:00

  • The incidence of dysfunctional antithrombin variants: four cases in 210 patients with thromboembolic disease.

    abstract::210 patients, with a history of venous thrombosis, have undergone prothrombotic investigations. In nine cases a consistent deficiency of antithrombin was identified. In five there was a reduction in the plasma antigenic concentration of antithrombin and in a further four cases deficiency was due to the presence of a d...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1991.tb08584.x

    authors: Harper PL,Luddington RJ,Daly M,Bruce D,Williamson D,Edgar PF,Perry DJ,Carrell RW

    更新日期:1991-03-01 00:00:00

  • Detection of monoclonal plasma cells in the peripheral blood of patients with primary amyloidosis.

    abstract::We evaluated the blood from 150 patients with primary AL-amyloidosis for circulating monoclonal plasma cells using a sensitive slide-based immunofluorescence technique. The percentage of monoclonal blood plasma cells (BPC) that were in S-phase was determined by the bromodeoxyuridine labelling index (BLI). Monoclonal B...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1998.00583.x

    authors: McElroy EA Jr,Witzig TE,Gertz MA,Greipp PR,Kyle RA

    更新日期:1998-02-01 00:00:00

  • Genomic analysis of non-splenic marginal zone lymphomas (MZL) indicates similarities between nodal and extranodal MZL and supports their derivation from memory B-cells.

    abstract::Three distinct categories of marginal zone lymphomas (MZLs) are currently recognized, principally based on their site of occurrence. They are thought to represent unique entities, but the relationship of one subtype with another is poorly understood. We investigated 17 non-splenic MZLs (seven nodal, 10 extranodal) by ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2011.08841.x

    authors: Novak U,Basso K,Pasqualucci L,Dalla-Favera R,Bhagat G

    更新日期:2011-11-01 00:00:00

  • Arsenic trioxide (AT) is a novel human neutrophil pro-apoptotic agent: effects of catalase on AT-induced apoptosis, degradation of cytoskeletal proteins and de novo protein synthesis.

    abstract::The anti-cancer drug arsenic trioxide (AT) induces apoptosis in a variety of transformed or proliferating cells. However, little is known regarding its ability to induce apoptosis in terminally differentiated cells, such as neutrophils. Because neutropenia has been reported in some cancer patients after AT treatment, ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2005.05866.x

    authors: Binet F,Cavalli H,Moisan E,Girard D

    更新日期:2006-02-01 00:00:00

  • The stromal cell-derived factor-1alpha dependent migration of human cord blood CD34 haematopoietic stem and progenitor cells switches from protein kinase C (PKC)-alpha dependence to PKC-alpha independence upon prolonged culture in the presence of Flt3-lig

    abstract::Addition of the inflammatory cytokine interleukin (IL)-6 to the culture medium of human cord blood haematopoietic stem and progenitor cells (HSPCs) has been shown to lead to an altered stromal cell-derived factor-1alpha-dependent migratory phenotype. This study investigated whether this effect was attributed to a diff...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2008.07256.x

    authors: Kasenda B,Kassmer SH,Niggemann B,Schiermeier S,Hatzmann W,Zänker KS,Dittmar T

    更新日期:2008-09-01 00:00:00

  • Primary human acute myeloid leukaemia cells increase the proliferation of microvascular endothelial cells through the release of soluble mediators.

    abstract::Bone marrow angiogenesis is suggested to play a role in the pathogenesis of acute myeloid leukaemia (AML) and endothelial cells may mediate chemosensitivity. This study investigated in vitro endothelial effects of coculture of microvascular endothelial cells (MVEC) with AML cells derived from 33 consecutive AML patien...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2008.07411.x

    authors: Hatfield K,Øyan AM,Ersvaer E,Kalland KH,Lassalle P,Gjertsen BT,Bruserud Ø

    更新日期:2009-01-01 00:00:00

  • Simultaneous SIL-TAL1 RT-PCR detection of all tal(d) deletions and identification of novel tal(d) variants.

    abstract::Site-specific deletions of the 5' part of the TAL1 gene (tal(d)) are among the most frequent non-random genetic abnormalities in T-cell acute lymphoblastic leukaemia (T-ALL). They are usually detected by PCR from DNA with several primer pairs or by Southern blot analysis. Since tal(d) lead to expression of a SIL-TAL1 ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.4833286.x

    authors: Delabesse E,Bernard M,Landman-Parker J,Davi F,Leboeuf D,Varet B,Valensi F,Macintyre EA

    更新日期:1997-12-01 00:00:00

  • Identification of del(6)(q21q25) as a recurring chromosomal abnormality in putative NK cell lymphoma/leukaemia.

    abstract::The putative natural killer (NK) cell lymphomas/leukaemias are a group of recently characterized haematolymphoid malignancies sharing an immunophenotype of CD3/Leu4- CD3epsilon+ CD56+, and a genotype of germline T-cell receptor genes. They frequently present in extranodal sites and exhibit a highly aggressive clinical...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.3223139.x

    authors: Wong KF,Chan JK,Kwong YL

    更新日期:1997-09-01 00:00:00

  • A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations.

    abstract::S-Methylation by thiopurine methyltransferase (TPMT) is an important route of metabolism for the thiopurine drugs. About one in 300 individuals are homozygous for a TPMT mutation associated with very low enzyme activity and severe myelosuppression if treated with standard doses of drug. To validate the use of molecula...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2000.02218.x

    authors: Coulthard SA,Rabello C,Robson J,Howell C,Minto L,Middleton PG,Gandhi MK,Jackson G,McLelland J,O'Brien H,Smith S,Reid MM,Pearson AD,Hall AG

    更新日期:2000-09-01 00:00:00

  • Differential dose-related haematological effects of GM-CSF in pancytopenia: evidence supporting the advantage of low- over high-dose administration in selected patients.

    abstract::Granulocyte-macrophage colony-stimulating factor (GM-CSF) is a multifunctional haematopoietin which can promote production of several blood cell lineages, though the predominant target cells are neutrophils, monocytes, and their precursors. Occasional undesirable clinical effects include eosinophilia, an increase in b...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1991.tb04448.x

    authors: Kurzrock R,Talpaz M,Gomez JA,Estey EH,O'Brien S,Hirsch-Ginsberg C,Koller C,Freireich EJ,Gutterman JU

    更新日期:1991-07-01 00:00:00

  • Acute thrombocytopenia in patients treated with amiodarone is caused by antibodies specific for platelet membrane glycoproteins.

    abstract::Amiodarone has been implicated as a cause of thrombocytopenia but the responsible mechanism is unknown. We performed studies in three patients to characterize the pathogenesis of this complication. No amiodarone-dependent, platelet-reactive antibodies were identified using conventional serological techniques. However,...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12521

    authors: Sahud MA,Caulfield M,Clarke N,Koch R,Bougie D,Aster R

    更新日期:2013-10-01 00:00:00

  • Single amino acid mutation of Fc gamma receptor is associated with the development of heparin-induced thrombocytopenia.

    abstract::Heparin-induced thrombocytopenia (HIT) is mediated by a heparin-dependent antibody/platelet factor 4/heparin complex binding to platelets via the Fc gamma receptor (type IIA). A single base polymorphism at position 131 of Fc gamma RIIA changes the native arginine to histidine. In the presence of murine monoclonal IgG1...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb05383.x

    authors: Burgess JK,Lindeman R,Chesterman CN,Chong BH

    更新日期:1995-11-01 00:00:00

  • Pathogenesis of chronic immune thrombocytopenia: increased platelet destruction and/or decreased platelet production.

    abstract::Chronic immune thrombocytopenia (ITP) is a haematological disorder in which patients predominantly develop skin and mucosal bleeding. Early studies suggested ITP was primarily due to immune-mediated peripheral platelet destruction. However, increasing evidence indicates that an additional component of this disorder is...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2009.07717.x

    authors: Nugent D,McMillan R,Nichol JL,Slichter SJ

    更新日期:2009-09-01 00:00:00

  • High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies.

    abstract::The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL). We have developed and validated a rapid and sensitive high-resolution melting analysis (HRMA) assay that detects BRAF exon 15 mutations when hairy cells are as low as 5-10% in a sample. All 48 HCL patients were positive for...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2011.08868.x

    authors: Boyd EM,Bench AJ,van 't Veer MB,Wright P,Bloxham DM,Follows GA,Scott MA

    更新日期:2011-12-01 00:00:00

  • Evaluation of a new UVB source for irradiation of platelet concentrates.

    abstract::The application of ultraviolet B (UVB) radiation has been proposed as a new technology to decrease immunogenicity of leucocytes in platelet transfusions. UV radiation also induces platelet aggregation, which occurs most effectively at wavelengths between 240 and 280 nm and falls off sharply above 300 nm. In order to m...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb07801.x

    authors: van Prooijen HC,van Marwijk Kooy M,van Weelden H,Aarts-Riemens MI,Borghuis L,Akkerman JW

    更新日期:1990-08-01 00:00:00

  • Factor VIII antibody in a patient with mild haemophilia.

    abstract::We present the rare occurrence of an inhibitor of factor VIII procoagulant arising in a patient with mild haemophilia A and rheumatoid arthritis. The inhibitor was transient and behaved like a low titre, type II factor VIII procoagulant inhibitor similar to previously reported cases (Biggs et al, 1972b). In vitro stud...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1985.tb02832.x

    authors: Bovill EG,Burns SL,Golden EA

    更新日期:1985-10-01 00:00:00

  • Bone marrow biopsy in myelodysplastic syndromes: morphological characteristics and contribution to the study of prognostic factors.

    abstract::Ten characteristics of bone marrow (BM) biopsies in paraffin sections, obtained at diagnosis from patients with myelodysplastic syndromes (MDS) classified according to the FAB criteria, were analysed to identify both the most relevant morphologic data and any possible influence on survival. Agreement between two obser...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb02612.x

    authors: Ríos A,Cañizo MC,Sanz MA,Vallespí T,Sanz G,Torrabadella M,Gomis F,Ruiz C,San Miguel JF

    更新日期:1990-05-01 00:00:00

  • Investigation and management of a raised serum ferritin.

    abstract::Serum ferritin level is one of the most commonly requested investigations in both primary and secondary care. Whilst low serum ferritin levels invariably indicate reduced iron stores, raised serum ferritin levels can be due to multiple different aetiologies, including iron overload, inflammation, liver or renal diseas...

    journal_title:British journal of haematology

    pub_type: 信件,评审

    doi:10.1111/bjh.15166

    authors: Cullis JO,Fitzsimons EJ,Griffiths WJ,Tsochatzis E,Thomas DW,British Society for Haematology.

    更新日期:2018-05-01 00:00:00

  • New translocations in chronic granulocytic leukaemia: t(X;22)(p22;q11) and t(15;22)(q26;q11).

    abstract::Two cases of Ph1-positive chronic granulocytic leukaemia with hitherto undescribed translocations are presented. In case 1 the deleted part of chromosome number 22q- was translocated to the short arm of the X chromosome, t(X;22)(p22;q11). Pronounced basophilia, trisomy 19 in the majority of metaphases, and a partial c...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1979.tb05847.x

    authors: Hossfeld DK,Köhler S

    更新日期:1979-02-01 00:00:00

  • Partial response or better at six months is prognostic of superior progression-free survival in Waldenström macroglobulinaemia patients treated with ibrutinib.

    abstract::Ibrutinib is associated with durable responses in patients with Waldenström macroglobulinaemia (WM). We hypothesized that response depth is predictive of progression-free survival (PFS) in WM patients treated with ibrutinib. Using landmark analyses, we evaluated response depth in two cohorts of WM patients treated wit...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.17225

    authors: Castillo JJ,Abeykoon JP,Gustine JN,Zanwar S,Mein K,Flynn CA,Demos MG,Guerrera ML,Kofides A,Liu X,Munshi M,Tsakmaklis N,King R,Yang G,Hunter ZR,Advani RH,Palomba ML,Ansell SM,Gertz MA,Kapoor P,Treon SP

    更新日期:2020-11-18 00:00:00

  • Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia.

    abstract::We identified two patients with a t(2;4)(p24;q12) and a t(4;12)(q2?3;p1?2), respectively, in association with BCR-ABL and FIP1L1-PDGFRA negative chronic eosinophilic leukaemia. Molecular analysis revealed a novel STRN-PDGFRA fusion for the t(2;4) and ETV6-PDGFRA for the t(4;12). The fusions were confirmed by specific ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2007.06628.x

    authors: Curtis CE,Grand FH,Musto P,Clark A,Murphy J,Perla G,Minervini MM,Stewart J,Reiter A,Cross NC

    更新日期:2007-07-01 00:00:00

  • Coagulation activation and hyperviscosity in infection.

    abstract::A serial study of coagulation activation and whole-blood viscosity was performed on 37 patients with local or systemic bacterial infection, malaria, or a viral infection. Thrombocytopenia, without consumption of coagulation factors, was the main feature of benign tertian malaria and viral infection, whereas in septica...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1979.tb01155.x

    authors: Richardson SG,Matthews KB,Cruickshank JK,Geddes AM,Stuart J

    更新日期:1979-07-01 00:00:00