Abstract:
:During a survey of typical, dominant hereditary spherocytosis (HS) patients, we identified a frameshift mutation of the ankyrin gene in three unrelated probands. All three probands, who were from different ethnic backgrounds, suffered from severe HS requiring splenectomy. Analysis of both intragenic and flanking polymorphisms revealed that these probands did not share a common ankyrin allele, providing evidence that these mutations arose independently on separate chromosomal backgrounds. This frameshift mutation associated with severe HS, Ankyrin Florianópolis, is the first description of a recurrent mutation in the ankyrin gene.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Gallagher PG,Ferreira JD,Costa FF,Saad ST,Forget BGdoi
10.1046/j.1365-2141.2000.02441.xsubject
Has Abstractpub_date
2000-12-01 00:00:00pages
1190-3issue
4eissn
0007-1048issn
1365-2141pii
bjh2441journal_volume
111pub_type
杂志文章abstract::The prognostic significance of cytogenetic abnormalities was determined in 106 patients with well-characterized idiopathic myelofibrosis who were successfully karyotyped at diagnosis. 35% of the cases exhibited a clonal abnormality (37/106), whereas 65% (69/106) had a normal karyotype. Three characteristic defects, na...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.1722990.x
更新日期:1997-07-01 00:00:00
abstract::The aim of the present work was to investigate the effect of selective beta-I-blockade on the exchangeable splenic platelet pool (ESPP). Therefore, 50 mg of metoprolol (a selective beta-I-receptor blocking agent) was given by mouth to three groups of subjects: (1) 15 healthy volunteers, (2) five asplenic subjects, and...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1977.tb06844.x
更新日期:1977-10-01 00:00:00
abstract::Relapse remains the leading cause of treatment failure in children with acute lymphoblastic leukaemia (ALL) undergoing allogeneic haematopoietic stem cell transplantation (HSCT). We retrospectively investigated the prognostic role of minimal residual disease (MRD) before and after HSCT in 119 children transplanted in ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.15086
更新日期:2018-03-01 00:00:00
abstract::We studied the activity and stage of chronic liver disease in 45 HCV-seropositive/HIV-seronegative patients with severe haemophilia followed for at least 10 years. HCV-RNA was detected in serum in 36 patients (80%) Viraemic cases were further analysed for HCV genotypes: 10 (28%) were infected by type 1a, 10 (28%) by t...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05373.x
更新日期:1995-11-01 00:00:00
abstract::We studied the trends of the Epstein-Barr virus (EBV) positivity rate in Hodgkin's disease (HD) between 1955 and 1999. The overall positivity rate gradually decreased over time [12 out of 23 (52%) in 1955-69; 18 out of 39 (46%) in 1970-84; 13 out of 44 (35%) in 1985-99; P = 0.135]. Interestingly, a marked decrease in ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02767.x
更新日期:2001-05-01 00:00:00
abstract::Three identical alpha + thalassemia genes, one of which always carried the Hb J Tongariki mutation, have been observed in Vanuatuans. Despite the fact that at least two of them have arisen by different types of crossover event, the expression of all three haplotypes is identical. ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:
更新日期:1982-06-01 00:00:00
abstract::Investigations into the nature of the molecular interactions mediating the recognition of the haemopoietic progenitor cells by the haemopoietic stroma, indicate that ubiquitin mediates the binding between murine haemopoietic progenitors and the haemopoietic stroma. The adhesion of haemopoietic progenitors to anti-ubiq...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb03054.x
更新日期:1993-06-01 00:00:00
abstract::Dogs affected with cyclic haematopoiesis (CH) and experiencing recurrent 12-day cycles of neutropenia were supralethally irradiated and transplanted with marrow from their normal littermates. Following transplantation of the normal marrow, dogs with CH experienced no further cycles of neutropenia. Platelet and reticul...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1975.tb00535.x
更新日期:1975-06-01 00:00:00
abstract::The effects of oral contraceptive (OC) usage on platelet responsiveness to arachidonic acid metabolites was investigated. Platelets obtained from women who had been taking oral contraceptives for at least 3 months were compared with those of age-matched controls. Both the basal and prostacyclin (PGI2)-stimulated plate...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1984.tb06090.x
更新日期:1984-10-01 00:00:00
abstract::Marizomib, a natural marine product, is an irreversible proteasome inhibitor currently under investigation in relapsed-refractory multiple myeloma (RRMM) and malignant glioma. Central nervous system-multiple myeloma (CNS-MM) is a rare manifestation of extra-medullary disease with few therapeutic options, highlighting ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.14498
更新日期:2017-04-01 00:00:00
abstract::Platelets from patients with platelet-type von Willebrand disease (vWD) were used as immunogens for the production of murine monoclonal antibodies (MoAbs). One such MoAb, C-34, inhibited ristocetin-induced aggregation of patient or normal platelets, but not aggregation induced by other aggregating agents. As demonstra...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb02589.x
更新日期:1990-03-01 00:00:00
abstract::Four children with acute lymphoblastic leukaemia (ALL) who relapsed after allogeneic bone marrow transplantation (BMT) were treated with donor lymphocyte infusion (DLI) without prior conditioning. Three patients had previously received a non-T-cell-depleted matched sibling BMT and the fourth had a T-cell-depleted matc...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.62650.x
更新日期:1997-04-01 00:00:00
abstract::MPLW515L/K and JAK2V617F can co-exist in myelofibrosis with myeloid metaplasia (MMM). The chronology of clonal emergence was studied in three such cases using serially stored bone marrow. At diagnosis, a major MPL515 mutant clone was accompanied by a minor JAK2V617F clone in all three instances. At 25 time points over...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06348.x
更新日期:2006-12-01 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
pub_type: 杂志文章
doi:10.1111/bjh.12479
更新日期:2013-10-01 00:00:00
abstract::New therapeutic approaches are needed to improve the cure rates in acute myeloid leukaemia (AML). The present study was designed to investigate whether: (1) cytotoxic lymphocytes could be expanded from AML patients in complete remission; (2) their signal transduction machinery was preserved; (3) these cells were capab...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract::To examine the role of human DNA topoisomerase IIalpha (topo IIalpha) in drug resistance, we selectively inhibited topo IIalpha gene expression in U937 human monocytic leukaemia cells stably transfected with a plasmid that allowed for Zn-mediated conditional expression of a human alpha-topo IIalpha antisense sequence....
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00713.x
更新日期:1998-06-01 00:00:00
abstract::AML1/RUNX1, which encodes a transcription factor essential for definitive haematopoiesis, is a frequent target of leukaemia-associated chromosome translocations. Point mutations of this gene have also recently been associated with leukaemia and myelodysplastic syndrome (MDS). To further define the frequency and biolog...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.04966.x
更新日期:2004-06-01 00:00:00
abstract::In this study we investigated the proliferation of three well-documented MM lines and 10 bone marrow samples from myeloma patients in response to rh-SCF alone and combined with Interleukin-6 (IL-6), IL-3 and IL-3/GM-CSF fusion protein PIXY 321. Neoplastic plasma cells were highly purified (> 90%) by immunomagnetic dep...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb05115.x
更新日期:1994-12-01 00:00:00
abstract::Platelet-derived growth factor (PDGF) is thought to play some role in the genesis of fibrosis associated with myeloproliferative disorders. In addition, transforming growth factor-beta (TGF-beta) has been confirmed to promote fibrotic process. Both PDGF and TGF-beta have been shown to cooperate with epidermal growth f...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1991.tb07952.x
更新日期:1991-01-01 00:00:00
abstract::The proteasome inhibitor, bortezomib, potentially increases cell sensitivity to chemotherapy. This study was performed to determine the overall response rate (ORR), overall survival (OS), progression-free survival (PFS) and toxicity of CHOP (cyclophosphamide, doxorubicin, vincristine and prednisolone) compared to CHOP...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/bjh.13101
更新日期:2015-01-01 00:00:00
abstract::Neurological emergencies are frequently catastrophic events in the course of haematological malignancies (HM) that, if not promptly recognized and treated, may lead to lethal outcomes or chronic sequelae. They may occur at any time during the disease course, but are more frequently observed following relapse. Practice...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/bjh.16184
更新日期:2020-06-01 00:00:00
abstract::Plasma and urine folate fractions were evaluated after ingestion of radioactive N5-methyl-tetrahydrofolic acid by a normal control (subject I), a patient on maintenance haemodialysis for chronic glomerulonephritis (subject 2), and an anephric patient on haemodialysis (subject 3). In subjects 1 and 2 maximal plasma rad...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1977.tb00664.x
更新日期:1977-07-01 00:00:00
abstract::Chronic myeloid leukaemia invariably progresses from a drug-sensitive to a drug-resistant, aggressive acute leukaemia. The mechanisms responsible for this are unknown, although loss of p53 has been reported in approximately 25% of cases. Elevated expression of Bcr-Abl is also associated with disease progression. We ha...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04538.x
更新日期:2003-10-01 00:00:00
abstract::Pure fetal blood was obtained by direct-vision fetoscopy from 66 fetuses at 17-24 weeks gestation. The concentration of GSH and the activities of the enzymes gamma-glutamylcysteine synthetase (GCS), glutathione synthetase (GS), glutathione reductase (GR) and glutathione peroxidase (GPx) were analysed by established te...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1984.tb02947.x
更新日期:1984-08-01 00:00:00
abstract::This review article acknowledges the pioneering contribution of William Bate Hardy in shaping the concept of mast cell heterogeneity. In two outstanding papers, published in 1894 and 1895, he focussed on the 'wandering cells' (the modern leucocytes) in different mammalian species and distinguished two types of granula...
journal_title:British journal of haematology
pub_type: 传,历史文章,杂志文章
doi:10.1111/j.1365-2141.2009.07938.x
更新日期:2010-07-01 00:00:00
abstract::Bone marrow blast cells of 174 child and 188 adult patients with AML were examined and characterized in terms of their FAB type, immunological phenotype (102 children, 123 adults) and karyotype (69 children, 95 adults). The incidence of FAB variants of AML proved similar in children and adults. In patients under 15 an...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb06727.x
更新日期:1994-08-01 00:00:00
abstract::The prevalence of Helicobacter pylori infection and the effect of its eradication on platelet count in 48 Japanese patients with autoimmune thrombocytopenic purpura (AITP), including 40 chronic idiopathic thrombocytopenic purpura (ITP) and eight secondary AITP, were investigated. H. pylori infection was found in 25 IT...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03612.x
更新日期:2002-08-01 00:00:00
abstract::Three certified reference materials for thromboplastins are available from the Community Bureau of Reference (BCR) of the European Commission for calibration of commercial thromboplastins used for control of oral anticoagulant therapy. The long-term stability of these reference materials has been monitored by two inde...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb04209.x
更新日期:1988-03-01 00:00:00
abstract::Reversible aggregation of red blood cells (RBC) plays an important role in determining blood flow properties, and it is this aggregation which increases blood viscosity at low shear rates. The structure and sites of venous thrombi, as well as the fact that stasis is a major predisposing factor in venous thrombosis, su...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04993.x
更新日期:1994-09-01 00:00:00
abstract::Although the expression patterns of the members of the tumour necrosis factor receptor and ligand families have extensively been studied by flow-cytometry on stimulated peripheral blood mononuclear cells (PBMNC), little or no flow-cytometric or immunohistological data exist about their expression in lymphoid tissue. A...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.3153134.x
更新日期:1997-09-01 00:00:00