Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.

abstract：:We describe a simple approach for molecular characterization and locus assignment of structural mutants by direct sequencing of enzymatically amplified DNA selective to alpha 1 and alpha 2 globin gene regions. Nucleotide substitution of two structural variants (Stanleyville II alpha 2(78Lys) and J Mexico alpha 2(54Glu...

journal_title：British journal of haematology

authors： Dodé C,Rochette J,Krishnamoorthy R

更新日期：1990-10-01 00:00:00

abstract：:Globin-gene mapping of DNA from 13 families with normal Hb A2 beta-thalassaemia (both type 1 and type 2) failed to detect any difference from normal in their globin-gene arrangement. We conclude that deletions such as those responsible for gamma beta-thalassaemia or a 'silent' Hb Lepore are not responsible for this ty...

journal_title：British journal of haematology

authors： Kanavakis E,Metaxotou-Mavromati A,Kattamis C,Aksoy M,Weatherall DJ,Wood WG

更新日期：1982-05-01 00:00:00

abstract：:An efficient method for the culture of human megakaryocyte precursors in serum-free medium has been developed facilitating study of the effect of regulators of megakaryocyte growth and maturation without interference by serum-derived factors. We have investigated how megakaryocytes and their precursors respond to the ...

journal_title：British journal of haematology

authors： Plantier JL,Berthier R,Rival Y,Schweitzer A,Rabiet MJ

更新日期：1994-08-01 00:00:00

abstract：:Fibroblast-like cells may be grown from human bone marrow. Adherent cultures show a logarithmic phase of growth lasting 6 d. Hydrocortisone (1 x 10(-8) M) decreases cell growth in 40-60% when measured as cell number and DNA synthesis. Fibroblasts bind the hormone by a high affinity, saturable process showing a Kd of 2...

journal_title：British journal of haematology

authors： Minguell JJ,Martínez J,Walter T

更新日期：1982-10-01 00:00:00

abstract：:Losses in 13q as a sole abnormality confer a good prognosis in chronic lymphocytic leukaemia (CLL). Nevertheless, its heterogeneity has been demonstrated and the clinical significance of biallelic 13q deletions remains controversial. We compared the clinico-biological characteristics of a series of 627 patients harbou...

journal_title：British journal of haematology

authors： Puiggros A,Delgado J,Rodriguez-Vicente A,Collado R,Aventín A,Luño E,Grau J,Hernandez JÁ,Marugán I,Ardanaz M,González T,Valiente A,Osma M,Calasanz MJ,Sanzo C,Carrió A,Ortega M,Santacruz R,Abrisqueta P,Abella E,Bosc

更新日期：2013-10-01 00:00:00

abstract：:Polycomb group (PcG) proteins are involved in the stable transmittance of the repressive state of their gene targets throughout the cell cycle. Mis-expression of PcG proteins can lead to proliferative defects and tumorigenesis. There are two separate multimeric PcG protein complexes: an EED-EZH2-containing complex and...

journal_title：British journal of haematology

authors： Visser HP,Gunster MJ,Kluin-Nelemans HC,Manders EM,Raaphorst FM,Meijer CJ,Willemze R,Otte AP

更新日期：2001-03-01 00:00:00

abstract：:Drug-related neutropenia is a common observation in AIDS patients. Haematological growth factors are therefore increasingly used in combination with myelotoxic agents to reduce the risk of infection and to improve the haematological tolerance of these regimens. We report a case of an AIDS patient with Kaposi's sarcoma...

journal_title：British journal of haematology

authors： Hermans P,Gori A,Lemone M,Franchioly P,Clumeck N

更新日期：1994-06-01 00:00:00

abstract：:Increased osteoclastic bone resorption is the major causal factor of bone disease in multiple myeloma. Recently, non-invasive methods have been developed for the estimation of bone resorptive activity. To evaluate the biological sensitivity and clinical usefulness of five biochemical assays for measuring the C-termina...

journal_title：British journal of haematology

authors： Abildgaard N,Brixen K,Kristensen JE,Eriksen EF,Nielsen JL,Heickendorff L

更新日期：2003-01-01 00:00:00

abstract：:During the past years, several authors have used labelled leucocytes to detect inflammatory foci. However, before routine use in man. It is necessary to control the viability of labelled cells. Five leucocyte labelling techniques (111In-oxine, 111In-oxine without extraction, 99mTc oxine, pyrophosphate 99mTc, 51Cr) wer...

journal_title：British journal of haematology

authors： Colas-Linhart N,Barbu M,Gougerot MA,Bok B

更新日期：1983-01-01 00:00:00

abstract：:The first step in thrombin-induced aggregation of blood platelets is binding of thrombin to specific receptors on the platelet membrane. Elucidation of the nature of this receptor in human platelets was attempted using radioactively labelled thrombin. In disc gel electrophoresis an extract of thrombin-treated platelet...

journal_title：British journal of haematology

authors： Ganguly P

更新日期：1975-04-01 00:00:00

abstract：:The pyrimidine analogue cytosine arabinoside (AraC) is one of the most effective drugs used in the treatment of acute leukaemia. Overexpression of the multidrug resistance (MDR-1) gene and its product, P-glycoprotein (P-gp), is associated with cellular resistance to drugs, such as anthracyclines and vinca alkaloids. T...

journal_title：British journal of haematology

authors： Månsson E,Paul A,Löfgren C,Ullberg K,Paul C,Eriksson S,Albertioni F

更新日期：2001-09-01 00:00:00

abstract：:Mastocytosis is an uncommon disease characterized by a proliferation of tissue mast cells involving various organs, particularly the bone marrow. Though rare, the association of mastocytosis and haematological malignancies is well established. However, the frequency of mastocytosis reported in patients with essential ...

journal_title：British journal of haematology

authors： Le Tourneau A,Gaulard P,D'Agay MF,Vainchencker W,Cadiou M,Devidas A,Haioun C,Clauvel JP,Audouin J,Diebold J

更新日期：1991-09-01 00:00:00

abstract：:Sideroblastic anaemia includes a heterogeneous group of rare conditions, characterized by decreased haem synthesis and mitochondrial iron overload, which are diagnosed by the presence of ringed sideroblasts in the bone marrow aspirate. The most frequent form is X-linked sideroblastic anaemia, caused by mutations of de...

journal_title：British journal of haematology

authors： Camaschella C

更新日期：2008-10-01 00:00:00

abstract：:Sixty patients with haematological malignancies received a myeloablative regimen of total body irradiation, cyclophosphamide and fludarabine followed by a T-cell-depleted peripheral blood stem cell transplant from a human leucocyte antigen identical sibling. To improve donor immune function, 1 x 10(7) CD3+ cells/kg we...

journal_title：British journal of haematology

authors： Montero A,Savani BN,Kurlander R,Read EJ,Leitman SF,Childs R,Solomon SR,Barrett AJ

更新日期：2005-09-01 00:00:00

abstract：:Lack of consensus for first-line marginal zone lymphoma (MZL) treatment and toxicities associated with currently available systemic therapies have inspired evaluation of immunotherapeutic agents yielding robust outcomes with improved tolerability. We previously reported durable efficacy with first-line lenalidomide an...

journal_title：British journal of haematology

authors： Becnel MR,Nastoupil LJ,Samaniego F,Davis RE,You MJ,Green M,Hagemeister FB,Fanale MA,Fayad LE,Westin JR,Wang M,Oki Y,Forbes SG,Feng L,Neelapu SS,Fowler NH

更新日期：2019-06-01 00:00:00

abstract：:Glucocorticoid (GC) effects are mediated by the glucocorticoid receptor (GR). Several studies have demonstrated that a lower number of receptors per cell were associated with poor GC response. The regulation of GR expression is complex; the levels of GR can be autologously regulated by its ligand and also by transcrip...

journal_title：British journal of haematology

authors： Sánchez-Vega B,Gandhi V

更新日期：2009-03-01 00:00:00

abstract：:In myeloproliferative neoplasms (MPN), JAK2V617F allele burden measurement has an impact on prognosis that helps in patient monitoring. Less is known about its usefulness in CALR-mutated cases. Additional mutations found by next-generation sequencing have also shown an impact on prognosis that may drive therapeutic ch...

journal_title：British journal of haematology

authors： Cottin L,Riou J,Orvain C,Ianotto JC,Boyer F,Renard M,Truchan-Graczyk M,Murati A,Jouanneau-Courville R,Allangba O,Mansier O,Burroni B,Rousselet MC,Quintin-Roué I,Martin A,Sadot-Lebouvier S,Delneste Y,Chrétien JM,Hunaul

更新日期：2020-03-01 00:00:00

abstract：:In the positron emission tomography (PET) era, traditional prognostic factors may not apply for patients with relapsed/refractory (R/R) diffuse large B cell lymphoma (DLBCL) undergoing autologous stem cell transplantation (ASCT). Moreover, little is known about prognostic factors in patients transplanted for transform...

journal_title：British journal of haematology

authors： Armand P,Welch S,Kim HT,LaCasce AS,Jacobsen ED,Davids MS,Jacobson C,Fisher DC,Brown JR,Coughlin E,Freedman AS,Chen YB

更新日期：2013-03-01 00:00:00

abstract：:The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, immunodeficiency and eczema. X-linked thrombocytopenia (XLT) is a mild form of WAS with isolated thrombocytopenia. Both phenotypes are caused by mutation of the Wiskott-Aldrich syndrome protein (WASP) gene. In this ...

journal_title：British journal of haematology

authors： Kajiwara M,Nonoyama S,Eguchi M,Morio T,Imai K,Okawa H,Kaneko M,Sako M,Ohga S,Maeda M,Hibi S,Hashimito H,Shibuya A,Ochs HD,Nakahata T,Yata JI

更新日期：1999-11-01 00:00:00

abstract：:Immuno-alkaline phosphatase staining (by the APAAP technique) has been used to identify promegakaryoblasts in cell smears from 10 cases of leukaemia (three acute leukaemia, seven blast transformations). In all cases promegakaryoblasts were labelled by at least two anti-platelet glycoprotein (gp) antibodies, the highes...

journal_title：British journal of haematology

authors： Erber WN,Breton-Gorius J,Villeval JL,Oscier DG,Bai Y,Mason DY

更新日期：1987-01-01 00:00:00

abstract：:We examined major histocompatibility complex (MHC) class II expression in B cells, peripheral blood monocytes, activated T cells, epidermal Langerhans cells, monocyte-derived dendritic cells, dermal microvascular endothelial cells (DMEC) and fibroblasts of twin brothers with MHC class II deficiency. Although residual ...

journal_title：British journal of haematology

authors： Wolf HM,Thon V,Gulle H,Lechleitner S,Eibl MM,Petzelbauer P

更新日期：2001-11-01 00:00:00

abstract：:Allogeneic stem cell transplantation (alloSCT) is a curative procedure for myelofibrosis. Elderly people are mainly affected, limiting the feasibility of myeloablative regimens. The introduction of reduced-intensity conditioning (RIC) made alloSCT feasible for older patients. Nevertheless, the incidence of myelofibros...

journal_title：British journal of haematology

authors： Mannina D,Zabelina T,Wolschke C,Heinzelmann M,Triviai I,Christopeit M,Badbaran A,Bonmann S,von Pein UM,Janson D,Ayuk F,Kröger N

更新日期：2019-08-01 00:00:00

abstract：:Seventy-seven normal donors underwent leukapheresis for peripheral blood progenitor cell collection beginning on day 4 (n = 45) or day 5 (n = 32) of filgrastim mobilization (12 micrograms/kg/d). The two groups were comparable for age, weight, blood volumes processed during leukapheresis and target CD34+ cell dose to b...

journal_title：British journal of haematology

authors： Anderlini P,Przepiorka D,Huh Y,Lauppe J,Miller P,Sundberg J,Seong D,Champlin R,Körbling M

更新日期：1996-06-01 00:00:00

abstract：:Lenalidomide gained Food and Drug Administration (FDA) approval for treatment of patients with relapsed or refractory multiple myeloma (MM) in combination with dexamethasone in June 2006. In April 2005, the FDA and patient advocacy groups requested an expanded access programme to both provide lenalidomide to patients ...

journal_title：British journal of haematology

authors： Chen C,Reece DE,Siegel D,Niesvizky R,Boccia RV,Stadtmauer EA,Abonour R,Richardson P,Matous J,Kumar S,Bahlis NJ,Alsina M,Vescio R,Coutre SE,Pietronigro D,Knight RD,Zeldis JB,Rajkumar V

更新日期：2009-07-01 00:00:00

abstract：:The prognostic significance of SOCS3 protein expression was determined in de novo follicular lymphomas (FL) with t(14;18) and bcl-2 overexpression. Presentation lymph nodes from 82 FL patients for whom clinical information was available were immunohistochemically segregated into SOCS3-positive (n = 42) or -negative (n...

journal_title：British journal of haematology

authors： Krishnadasan R,Bifulco C,Kim J,Rodov S,Zieske AW,Vanasse GJ

更新日期：2006-10-01 00:00:00

abstract：:The safety and efficacy of the combination clofarabine/cyclophosphamide/etoposide were evaluated in children with advanced acute lymphoblastic leukaemia (ALL). The study enrolled 25 paediatric patients (median age 12.5 years) with either refractory (n = 17; 68%) or multiple relapsed (n = 8; 32%) ALL to receive clofara...

journal_title：British journal of haematology

authors： Locatelli F,Testi AM,Bernardo ME,Rizzari C,Bertaina A,Merli P,Pession A,Giraldi E,Parasole R,Barberi W,Zecca M

更新日期：2009-11-01 00:00:00

abstract：:Two patients are described who had evidence of both multiple myeloma and chronic neutrophilic leukaemia at or near the time of presentation. Descriptions of five similar patients were found in the literature supporting an association between the two disorders. This association is further evidence of a link between mye...

journal_title：British journal of haematology

authors： Lewis MJ,Oelbaum MH,Coleman M,Allen S

更新日期：1986-05-01 00:00:00

abstract：:The combination of tumour necrosis factor alpha (TNF alpha) and gamma-interferon induced transcription of class I HLA genes in chronic myelogenous leukaemia (CML) cell lines through the formation of a complex between nuclear proteins and the transcriptional enhancers associated with these genes. Although gamma-interfe...

journal_title：British journal of haematology

authors： Seong D,Sims S,Johnson E,Lyding J,Lopez A,Garovoy M,Talpaz M,Kantarjian H,Lopez-Berestein G,Reading C

更新日期：1991-07-01 00:00:00

abstract：:Treatment with 75 microg/kg/d intravenous (i.v.) anti-D was compared with 50 microg/kg/d in a prospective randomized study of 27 RhD-positive, human immunodeficiency virus-negative, adult, acute, non-splenectomized patients with immune thrombocytopenic purpura (ITP) and platelet counts < or = 30 x 109/l. The higher do...

journal_title：British journal of haematology

authors： Newman GC,Novoa MV,Fodero EM,Lesser ML,Woloski BM,Bussel JB

更新日期：2001-03-01 00:00:00

abstract：:The molecular basis accounting for the peculiar clinical and biological features of hairy cell leukaemia (HCL) is currently unknown. Deregulation of cell cycle genes plays a significant role in oncogenesis and there is considerable evidence suggesting that Cdk inhibitors (Ckis) function as tumour suppressors. We and o...

journal_title：British journal of haematology

authors： Chilosi M,Chiarle R,Lestani M,Menestrina F,Montagna L,Ambrosetti A,Prolla G,Pizzolo G,Doglioni C,Piva R,Pagano M,Inghirami G

更新日期：2000-10-01 00:00:00