当前位置： SCI文献检索 > BRITISH JOURNAL OF HAEMATOLOGY期刊下所有文献 > Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28.

Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28.

Abstract：

:We detected two transversions in two unrelated Italian patients with type 2A von Willebrand disease (VWD): a C to A at nucleotide 8821 and a T to A at nucleotide 8830, resulting in the missense mutations Pro864His and Val867Glu respectively. Both mutations were in the heterozygous form and abolished the BstXI restriction site in exon 28 of the VWF gene. In both mutations plasma VWF multimer pattern improved by antiproteases. Moreover, DDAVP normalized plasma VWF multimers in the Pro864His patient, especially when protease inhibitors were present. These new mutations appear to be of the 2A VWD subtype due to the increased susceptibility to proteases.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Bernardi F,Casonato A,Marchetti G,Gemmati D,Bizzaro N,Pontara E,Girolami A

doi

10.1046/j.1365-2141.1998.01064.x

subject

Has Abstract

pub_date

1998-12-01 00:00:00

pages

885-7

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

103

pub_type

杂志文章

相关文献

BRITISH JOURNAL OF HAEMATOLOGY文献大全
  • Management of the acute painful crisis in sickle cell disease- a re-evaluation of the use of opioids in adult patients.

    abstract：:Management of the acute painful crisis (APC) of sickle cell disease (SCD) remains unsatisfactory despite advances in the understanding and management of acute pain in other clinical settings. One reason for this is an unsophisticated approach to the use of opioid analgesics for pain management. This applies to haemato...

    journal_title：British journal of haematology

    pub_type： 杂志文章,评审

    doi：10.1111/bjh.12879

    authors： Telfer P,Bahal N,Lo A,Challands J

    更新日期：2014-07-01 00:00:00

  • Unexpected high incidence of intracranial subdural haematoma during intensive chemotherapy for acute myeloid leukaemia with a monoblastic component.

    abstract：:We report a high incidence of subacute, chronic and sometimes occult intracranial subdural haematoma (SDH) occurring during intensive chemotherapy for acute myeloid leukaemia (AML) with a monoblastic component. Between March 1990 and January 1993, 86 AML patients from our institution were randomized in the multicentri...

    journal_title：British journal of haematology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1111/j.1365-2141.1995.tb08358.x

    authors： Jourdan E,Dombret H,Glaisner S,Micléa JM,Castaigne S,Degos L

    更新日期：1995-03-01 00:00:00

  • Cytomegalovirus infection and non-neutropenic fever after autologous stem cell transplantation: high rates of reactivation in patients with multiple myeloma and lymphoma.

    abstract：:In a retrospective study, we examined the association between cytomegalovirus (CMV) infection and non-neutropenic fever immediately following autologous peripheral blood stem cell transplantation for a variety of haematological malignancies and solid tumours. Sixty non-neutropenic febrile episodes (41 in CMV-seroposit...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2001.02487.x

    authors： Fassas AB,Bolaños-Meade J,Buddharaju LN,Rapoport A,Cottler-Fox M,Chen T,Lovchik JC,Cross A,Tricot G

    更新日期：2001-01-01 00:00:00

  • Clinical significance of serum thymidine kinase in adult T-cell leukaemia and acute myeloid leukaemia.

    abstract：:To clarify the clinical and biological significance of serum thymidine kinase (TK) in adult T-cell leukaemia (ATL) associated with human lymphotropic virus type-I (HTLV-I) and in acute myeloid leukaemia (AML), TK was measured in 52 patients with ATL (acute ATL, 35 patients; lymphoma ATL, two patients; chronic ATL, 12 ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1995.tb03386.x

    authors： Sadamori N,Ichiba M,Mine M,Hakariya S,Hayashibara T,Itoyama T,Nakamura H,Tomonaga M,Hayashi K

    更新日期：1995-05-01 00:00:00

  • Proposals for the classification of the myelodysplastic syndromes.

    abstract：:New diagnostic criteria for the diagnosis of the various myelodysplastic syndromes (MDS) are proposed, and a detailed description is given of the features that may help define MDS. Five MDS are described: (1) refractory anaemia (RA), (2) RA with ring sideroblasts, (3) RA with excess of blasts (RAEB), (4) chronic myelo...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：

    authors： Bennett JM,Catovsky D,Daniel MT,Flandrin G,Galton DA,Gralnick HR,Sultan C

    更新日期：1982-06-01 00:00:00

  • Purine degradative enzymes and immunological phenotypes in chronic B-lymphocytic leukaemia: indications that leukaemic immunocytoma is a separate entity.

    abstract：:Investigations of the purine degradative enzymes adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP), and ecto-5'-nucleotidase (5'NT) have been shown to be of value in defining subsets of lymphoid malignancies. We have studied the activities of these enzymes in the circulating malignant cells of 35 patien...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1986.tb02967.x

    authors： Ho AD,Dörken B,Ma DD,Pezzutto A,Hunstein W,Hoffbrand AV

    更新日期：1986-03-01 00:00:00

  • Deregulation of immunoglobulin gene transcription in the Hodgkin-Reed Sternberg cell line L1236.

    abstract：:Hodgkin-Reed Sternberg (H-RS) cells harbour clonal immunoglobulin gene (Ig) rearrangements in almost all cases of classical Hodgkin's disease but lack Ig gene expression. In the H-RS cell line L1236, a somatic mutation of the Ig heavy-chain gene promoter octamer motif has been described as a putative reason for absenc...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2001.03086.x

    authors： Re D,Staratschek-Jox A,Holtick U,Diehl V,Wolf J

    更新日期：2001-11-01 00:00:00

  • Concurrent detection of minimal residual disease (MRD) in childhood acute lymphoblastic leukaemia by flow cytometry and real-time PCR.

    abstract：:Minimal (i.e. submicroscopic) residual disease (MRD) predicts outcome in childhood acute lymphoblastic leukaemia (ALL). To be used clinically, MRD assays must be reliable and accurate. Two well-established techniques, flow cytometry (FC) and polymerase chain reaction (PCR), can detect leukaemic cells with a sensitivit...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2005.05401.x

    authors： Kerst G,Kreyenberg H,Roth C,Well C,Dietz K,Coustan-Smith E,Campana D,Koscielniak E,Niemeyer C,Schlegel PG,Müller I,Niethammer D,Bader P

    更新日期：2005-03-01 00:00:00

  • Interferon-alpha-induced morphological changes of megakaryocytes: a histomorphometrical study on bone marrow biopsies in chronic myeloproliferative disorders with excessive thrombocytosis.

    abstract：:Interferon(rIFN)-alpha, a successful therapeutic agent in the control of thrombocytosis, has been shown to suppress human megakaryopoiesis. We investigated bone marrow biopsies from 12 patients with thrombocytosis due to chronic myeloproliferative disorders. Prior to treatment as well as during rIFN-alpha-2c therapy, ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1990.tb02531.x

    authors： Chott A,Gisslinger H,Thiele J,Fritz E,Linkesch W,Radaszkiewicz T,Ludwig H

    更新日期：1990-01-01 00:00:00

  • In vitro expansion of cord blood does not prevent engraftment of severe combined immunodeficient repopulating cells.

    abstract：:This study aimed to assess the potential of human cord blood (CB) cells to engraft in the xenogenic non-obese diabetic/severe combined immunodeficient (NOD/SCID) mouse model after in vitro expansion culture. We also studied the quality of human haemopoiesis arising from the transplantation of fresh or expanded cells i...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2002.03254.x

    authors： Denning-Kendall PA,Evely R,Singha S,Chapman M,Bradley BA,Hows JM

    更新日期：2002-01-01 00:00:00

  • A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin.

    abstract：:We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated alpha-globin genes, causing an alpha+-thalassaemia phenotype in two independent carriers of Suriname-Indian origin. The molecular characterization of the deletion breakpoint fragment revealed neither involvement of Alu re...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2003.04060.x

    authors： Harteveld CL,van Delft P,Wijermans PW,Kappers-Klunne MC,Weegenaar J,Losekoot M,Giordano PC

    更新日期：2003-01-01 00:00:00

  • The outcome of unrelated donor stem cell transplantation for patients with multiple myeloma.

    abstract：:We performed a retrospective analysis of outcome in 45 patients with multiple myeloma receiving unrelated donor stem cell transplants (UD-SCT) in the UK between 1993 and 2002; 17 received myeloablative conditioning regimens and 28 received reduced intensity conditioning (RIC) protocols. Forty patients received pretran...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2003.04714.x

    authors： Shaw BE,Peggs K,Bird JM,Cavenagh J,Hunter A,Alejandro Madrigal J,Russell NH,Sirohi B,Towlson K,Williams CD,Marks DI,Clinical Trials Committee of the British Society of Blood and Marrow Transplantation.

    更新日期：2003-12-01 00:00:00

  • Response to ruxolitinib in patients with intermediate-1-, intermediate-2-, and high-risk myelofibrosis: results of the UK ROBUST Trial.

    abstract：:Myelofibrosis is characterized by splenomegaly and debilitating constitutional symptoms that negatively impact patients' quality of life. ROBUST, a UK, open-label, phase II study, evaluated the safety and efficacy of ruxolitinib in patients with myelofibrosis (N = 48), including intermediate-1 risk patients. The prima...

    journal_title：British journal of haematology

    pub_type： 杂志文章,多中心研究

    doi：10.1111/bjh.13379

    authors： Mead AJ,Milojkovic D,Knapper S,Garg M,Chacko J,Farquharson M,Yin J,Ali S,Clark RE,Andrews C,Dawson MK,Harrison C

    更新日期：2015-07-01 00:00:00

  • Irreversible erythrocyte volume expansion induced by tellurite.

    abstract：:Tellurite (K2TeO3) has been suggested as a potential anti-sickling compound because it causes a selective increase in the water content of RBC. To investigate the conditions underlying the increase in RBC volume due to tellurite, normal RBCs were incubated with the compound in a physiological medium and the cells wash...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1988.tb02496.x

    authors： Kurantsin-Mills J,Klug RK,Lessin LS

    更新日期：1988-11-01 00:00:00

  • Chronic granulocytic leukaemia presenting with an extramedullary T lymphoblastic crisis.

    abstract：:A 33-year-old man presented with hepatosplenomegaly and lymphadenopathy. Bone marrow findings were consistent with Philadelphia-positive accelerated-phase chronic granulocytic leukaemia (CGL). Lymph node histology and immunhistochemistry were diagnostic of T lymphoblastic lymphoma. Molecular studies on lymph node DNA ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1994.tb05050.x

    authors： Jacob A,Rowlands DC,Patton N,Holmes JA

    更新日期：1994-10-01 00:00:00

  • The risk of recurrent venous thromboembolism in pregnancy and puerperium without antithrombotic prophylaxis.

    abstract：:Whether or not pregnant women with a previous episode of venous thromboembolism (VTE) should receive antithrombotic prophylaxis is a matter of debate. In order to estimate the rate of recurrent deep venous thrombosis (DVT) or pulmonary embolism (PE) during pregnancy and puerperium we retrospectively investigated a coh...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2006.06317.x

    authors： De Stefano V,Martinelli I,Rossi E,Battaglioli T,Za T,Mannuccio Mannucci P,Leone G

    更新日期：2006-11-01 00:00:00

  • Development and functional characterization of human bone marrow mesenchymal cells immortalized by enforced expression of telomerase.

    abstract：:To create immortal mesenchymal cell lines, we transduced primary human bone marrow mesenchymal cells with telomerase reverse transcriptase (TERT). TERT+ mesenchymal cells continued to grow for > 2 years; parallel TERT- cultures underwent senescence after 15 weeks. TERT+ mesenchymal cells did not form foci in soft agar...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2003.04217.x

    authors： Mihara K,Imai C,Coustan-Smith E,Dome JS,Dominici M,Vanin E,Campana D

    更新日期：2003-03-01 00:00:00

  • Interleukin-27 enhances the production of tumour necrosis factor-α and interferon-γ by bone marrow T lymphocytes in aplastic anaemia.

    abstract：:Aplastic anaemia (AA) is considered as an immune-mediated bone marrow failure syndrome. The mechanism is involved with a variety of immune molecules including interferon-γ (IFN-γ), tumour necrosis factor-α (TNF-α) and interleukins (ILs). IL-27 is a novel member of the IL-12 family, which mediates T cell response and e...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2010.08431.x

    authors： Li J,Zhao Q,Xing W,Feng J,Wu H,Li H,Ge M,Tian K,Li X,Zhou J,Liu B,Zhang L,Zheng Y,Han ZC

    更新日期：2011-06-01 00:00:00

  • The role of haematopoietic growth factors granulocyte colony-stimulating factor and granulocyte-macrophage colony-stimulating factor in the management of drug-induced agranulocytosis.

    abstract：:Drug-induced agranulocytosis (neutrophil count <0.5 x 10(9)/l) is a rare haematological complication with an incidence of no more than 10 cases per million inhabitants per year in Europe. Over the past few years there has been a steady decline in mortality rate, (currently at <5%), which can be partly explained by ear...

    journal_title：British journal of haematology

    pub_type： 杂志文章,评审

    doi：10.1111/j.1365-2141.2010.08104.x

    authors： Andrès E,Maloisel F,Zimmer J

    更新日期：2010-07-01 00:00:00

  • Vaccination of patients with haematological malignancies with one or two doses of influenza vaccine: a randomised study.

    abstract：:An open, randomised study was performed to determine whether two doses of influenza vaccine were more effective than one to elicit an immune response in 70 patients with haematological malignancies. The responses were not improved by two doses compared with one (influenza A virus serotypes H1/N1 18% vs. 22% and H3/N2 ...

    journal_title：British journal of haematology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1111/j.1365-2141.2005.05582.x

    authors： Ljungman P,Nahi H,Linde A

    更新日期：2005-07-01 00:00:00

  • A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma.

    abstract：:Nd-HPFH are haematological conditions which are natural models to aid understanding of the haemoglobin (Hb) switch. In this paper we describe a new non-deletional hereditary persistence of fetal haemoglobin (nd-HPFH) associated with the highest Hb F level observed to date (up to 49% without haemopoietic stress). Seque...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：

    authors： Pissard S,M'rad A,Beuzard Y,Roméo PH

    更新日期：1996-10-01 00:00:00

  • E1A3 as a unique, naturally occurring BCR-ABL transcript in an indolent case of chronic myeloid leukaemia.

    abstract：:A woman with Ph-positive chronic myeloid leukaemia (CML) with an atypical e1a3 BCR-ABL hybrid gene is described. To our knowledge, this is the first report of this transcript type as a unique naturally occurring BCR-ABL fusion in a CML patient. This case was characterized by a low leucocyte count and a very indolent c...

    journal_title：British journal of haematology

    pub_type： 杂志文章,评审

    doi：10.1046/j.1365-2141.2001.02971.x

    authors： Roman J,Jimenez A,Barrios M,Castillejo JA,Maldonado J,Torres A

    更新日期：2001-09-01 00:00:00

  • Magnetic counter-gravity flow separation of electrically prepolarised lymphoid cells.

    abstract：:A novel principle is proposed for a differential separation of live cells (such as leucocytes) from a main flow. A microfluidic device with planar insulated electrodes as the side walls of the channel was manufactured and tested. An array of insulated vertical conductor wires was inserted along the axis of the channel...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2006.06456.x

    authors： Popa C,Su B,Vadgama P,Cotter F

    更新日期：2007-02-01 00:00:00

  • Chromosomal aberrations are shared by malignant plasma cells and a small fraction of circulating CD19+ cells in patients with myeloma and monoclonal gammopathy of undetermined significance.

    abstract：:In the present study, we aimed to identify distinct structural and numerical chromosomal aberrations in peripheral blood B cells of patients with myeloma and monoclonal gammopathy of undetermined significance (MGUS), which reflect changes thought to occur at different stages of the disease process. Peripheral blood fr...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1046/j.1365-2141.2002.03529.x

    authors： Zojer N,Schuster-Kolbe J,Assmann I,Ackermann J,Strasser K,Hübl W,Drach J,Ludwig H

    更新日期：2002-06-01 00:00:00

  • Recurrent granulocytic aplasia as clinical presentation of a persistent parvovirus B19 infection.

    abstract：:We report a case of persistent infection with human parvovirus B19 (PVB19), manifesting clinically as recurrent agranulocytosis and in bone marrow biopsy as recurrent pure granulocytic aplasia. Persistence of parvovirus infection was documented by the presence of PVB19 DNA and anti-PVB19-IgM antibodies in the serum fo...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1992.tb08894.x

    authors： Pont J,Puchhammer-Stöckl E,Chott A,Popow-Kraupp T,Kienzer H,Postner G,Honetz N

    更新日期：1992-02-01 00:00:00

  • Current understanding of allergic transfusion reactions: incidence, pathogenesis, laboratory tests, prevention and treatment.

    abstract：:Non-haemolytic transfusion reactions are the most common type of transfusion reaction and include transfusion-related acute lung injury, transfusion-associated circulatory overload, allergic reactions, febrile reactions, post-transfusion purpura and graft-versus- host disease. Although life-threatening anaphylaxis occ...

    journal_title：British journal of haematology

    pub_type： 杂志文章,评审

    doi：10.1111/bjh.12150

    authors： Hirayama F

    更新日期：2013-02-01 00:00:00

  • FLT3-ITD expression levels and their effect on STAT5 in AML with and without NPM mutations.

    abstract：:FLT3-internal tandem duplication (ITD) mutations are heterogeneous with regards to length and proportion of DNA harbouring the mutation and the expression level of FLT3 also varies widely, however very little is known about the biological effects of these variables. We studied FLT3-associated biological parameters in ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.2009.07901.x

    authors： Seedhouse CH,Pallis M,Grundy M,Shang S,Russell NH

    更新日期：2009-12-01 00:00:00

  • Clinical activity of carfilzomib correlates with inhibition of multiple proteasome subunits: application of a novel pharmacodynamic assay.

    abstract：:While proteasome inhibition is a validated therapeutic approach for multiple myeloma (MM), inhibition of individual constitutive proteasome (c20S) and immunoproteasome (i20S) subunits has not been fully explored owing to a lack of effective tools. We utilized the novel proteasome constitutive/immunoproteasome subunit ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/bjh.14014

    authors： Lee SJ,Levitsky K,Parlati F,Bennett MK,Arastu-Kapur S,Kellerman L,Woo TF,Wong AF,Papadopoulos KP,Niesvizky R,Badros AZ,Vij R,Jagannath S,Siegel D,Wang M,Ahmann GJ,Kirk CJ

    更新日期：2016-06-01 00:00:00

  • A new congenital defect of platelet secretion: impaired responsiveness of the platelets to cytoplasmic free calcium.

    abstract：:A 16-year-old boy with a bleeding disorder since infancy has a long bleeding time, normal platelet count and morphology and normal plasma factor-VIII activities. His platelets undergo normal shape change and primary aggregation in response to ADP but show defective 5-hydroxytryptamine (5-HT) secretion and aggregation ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1983.tb07306.x

    authors： Hardisty RM,Machin SJ,Nokes TJ,Rink TJ,Smith SW

    更新日期：1983-04-01 00:00:00

  • Investigations of host defence in patients with sickle cell disease.

    abstract：:Parameters of host defence were investigated in 30 patients with sickle cell disease (SCD). A newly devised perfusion system was used to study the kinetics in whole blood of leucocyte adherence, phagocytosis, killing and solubilization of a mixture of Staph. aureus and Str. pneumoniae, and secretion of lactoferrin. A ...

    journal_title：British journal of haematology

    pub_type： 杂志文章

    doi：10.1111/j.1365-2141.1985.tb07339.x

    authors： Boghossian SH,Wright G,Webster AD,Segal AW

    更新日期：1985-03-01 00:00:00