Abstract:
:To determine if mutations of the Wilms' tumor predisposing gene (WT1) are associated with haematological malignancies, we have investigated 65 cases of acute leukaemia, including 39 patients in blast crisis of chronic myeloid leukaemia (CML), by amplification of WT1 exons 7, 8 and 9 followed by single-strand conformation polymorphism analysis. WT1 transcripts were detected by RT-PCR in all samples. An exon 7 silent polymorphism (A-->G; Arg 313) was identified in 17 individuals, 5 of whom were homozygous, but no other lesions were found. In 1 sample from a patient with acute lymphoblastic leukaemia a smaller size transcript missing exon 9 was detected; a similar abnormality has been described previously in a patient with Wilms' tumour and the resultant protein shown to act in a dominant-negative manner. No mutations of the exon 9 donor or acceptor splice sites were found in this patient and the basis of the abnormal transcript remains obscure. We conclude that dominant-negative mutations of the zinc finger region of the WT1 gene are uncommon in CML blast crisis. Abnormalities of this gene may, however, contribute to a small proportion of cases of de novo acute leukaemia.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Carapeti M,Goldman JM,Cross NCdoi
10.1111/j.1600-0609.1997.tb01681.xsubject
Has Abstractpub_date
1997-05-01 00:00:00pages
346-9issue
5eissn
0902-4441issn
1600-0609journal_volume
58pub_type
杂志文章abstract::Von Willebrand disease (VWD) is the most common genetic bleeding disorder. VWD is caused by a deficiency or dysfunction of von Willebrand factor (VWF), a plasma protein that mediates the initial adhesion of platelets at sites of vascular injury and binds and stabilises coagulation factor VIII (FVIII) in the blood. Pro...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/ejh.12809
更新日期:2017-02-01 00:00:00
abstract::A flow cytometric assay for measurements of leukocyte CD11b expression in whole blood has been developed and evaluated. The method is based on triggering of the flow cytometer by a fluorescent pan leukocyte marker, RPE-CD45. This enabled flow cytometric analysis in whole blood, and avoidance of in vitro artefacts rela...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.90198.x
更新日期:2000-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:From 1954 to 1987, flour in Denmark was fortified with 30 mg carbonyl iron per kg. This mandatory fortification was abolished in 1987. The aim of this study was to compare iron status in Danish men before and after abolition of iron fortification. METHODS:Iron status (serum ferritin, haemoglo...
journal_title:European journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1034/j.1600-0609.2002.01668.x
更新日期:2002-06-01 00:00:00
abstract::In an attempt to ascertain whether the presenting features of idiopathic myelofibrosis (IM) have changed in recent years, 2 groups of patients diagnosed with IM in a single institution in different time periods were compared. The first group included 53 patients diagnosed from 1975 to 1986, and the second included 56 ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1998.tb01005.x
更新日期:1998-02-01 00:00:00
abstract::Vertical and horizontal interactions between membrane constituents account for integrity, strength and deformability of the erythrocyte. Disruption of vertical interactions caused by membrane protein deficiencies in hereditary spherocytosis (HS), favor membrane vesiculation with development of spherocytic cells. Our a...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00385.x
更新日期:2005-05-01 00:00:00
abstract::The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using P...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.90181.x
更新日期:2000-08-01 00:00:00
abstract::Cellular accumulation of vincristine (VCR) and doxorubicin (DOX) was studied in 15 patients with low-grade B-cell malignancies. Their leukemic lymphocytes were isolated and the effect of verapamil on drug uptake was studied. The immunophenotype was characterized using anti-IgM, -IgD, -B 1, monoclonal antibodies. The m...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1989.tb00334.x
更新日期:1989-11-01 00:00:00
abstract::Agranulocytosis developed in a 63-year-old patient with myelodysplasia 6 weeks after commencing treatment with the oral iron chelator deferiprone (L1, 1,2-dimethyl-3-hydroxypyrid-4-one, CP20) at a daily dose of 79 mg/kg. This was the 3rd case of agranulocytosis (neutrophils 0 x 10(9)/l) in clinical trials of L1 at the...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1994.tb01323.x
更新日期:1994-11-01 00:00:00
abstract:OBJECTIVE:Cell cycle arrest by FOXO transcription factors involves in transcriptional activation of p27(kip1), although the exact mechanism remains unclear. And it has been evidenced that reduced level of p27(kip1) which is frequently occurred in human cancers has been associated with poor prognosis. In this study, our...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2008.01077.x
更新日期:2008-08-01 00:00:00
abstract::We have studied the kinetics of plasma levels of circulating (c)selectins in 8 patients undergoing bone marrow or stem cell transplantation to gain estimates for the distribution and half-life of (c)selectins and to potentially identify an endothelial source of cP-selectin in patients who are deprived of platelets and...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1998.tb01058.x
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND:In vivo T-cell depletion with anti-thymocyte globulin is a commonly used strategy for the prevention of graft-versus-host disease (GVHD) and to avoid rejection after hematopoietic stem cell transplantation (HSCT). METHODS:We compared 36 patients given Campath (alemtuzumab) as part of the conditioning with a...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2010.01537.x
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Levels of the angiogenic cytokines placental growth factor (PlGF) and soluble Fms-like tyrosine kinase-1 (sFlt-1) and the angiogenic balance, expressed by sFlt-1/PlGF ratio, are perturbed in sickle-cell disease and iron overload, but they have not been evaluated in non-transfusion-dependent thalassemia (NTDT...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13061
更新日期:2018-06-01 00:00:00
abstract::Patients with essential thrombocythemia (ET) often suffer from neurological symptoms (NS) not ever resulting from previous thrombotic cerebral events (TCE). We reported NS occurred in 282 patients, in order to identify the factors influencing ET-related NS in the absence of TCE, and the response to therapy. Overall, 1...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12638
更新日期:2016-06-01 00:00:00
abstract::Marrow fibroblast colony formation was studied in patients with myeloproliferative disorders, using human serum or platelet-derived growth factor plus plasma-derived serum as growth-stimulating factors. Colony numbers negatively correlated with the patient's age, but were not different from those of controls. However,...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00397.x
更新日期:1990-05-01 00:00:00
abstract:OBJECTIVES:Cord blood (CB) transplantation has advantages in terms of incidence and severity of acute graft-versus-host disease (GVHD), while it has disadvantages in terms of infection. Our aim is to elucidate the molecular mechanism underlying the immune response of CB-derived cells during acute GVHD and infection fol...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.2011.01707.x
更新日期:2012-01-01 00:00:00
abstract::Langerhans cells originate in bone marrow and probably belong to the monocyte-macrophage lineage. CD1 is a specific marker of Langerhans cells. By immunofluorescence and immunoelectron microscopy, CD1a antigen and myeloid markers (CD11, CD13, CD14, CD15, CD33, HLA-DR) were studied in 53 cases of acute myeloid leukemia...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1992.tb01789.x
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:The mutational status of the immunoglobulin (Ig) V(H) gene in B-cell chronic lymphocytic leukaemia (B-CLL) identifies two subgroups of patients with significantly different outcomes. We investigated the association of ZAP-70 expression with IgVH mutational status in B-CLL by quantifying ZAP-70 mRNA, to evalua...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.2005.00619.x
更新日期:2006-04-01 00:00:00
abstract:BACKGROUND:This review describes the safety of deferoxamine (DFO), deferiprone (DFP), deferasirox (DFX) and combined therapy in young patients less than 25 yr of age with haemoglobinopathies. METHODS:Searches in electronic literature databases were performed. Studies reporting adverse events associated with iron chela...
journal_title:European journal of haematology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/ejh.12833
更新日期:2017-03-01 00:00:00
abstract::In acute myeloid leukemia (AML) mouse models, the RUNX1-RUNX1T1 fusion protein has failed to produce leukemia by itself, but alternative splicing of exon 9a of the RUNX1-RUNX1T1 fusion transcript (FT) has recently been shown to enhance the leukemogenic potential. We have analyzed 138 diagnosis and follow-up samples fr...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01371.x
更新日期:2010-02-01 00:00:00
abstract::We generated a 100-kb map of the region 5' of the PML (promyelocytic leukemia) gene on human chromosome 15q22 and identified a new gene provisionally named STORP for stomatin-related protein. The STORP gene is positioned 2 kb upstream of the PML gene in a head-to-head configuration, and contains 7 exons spanning a gen...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.90054.x
更新日期:2000-02-01 00:00:00
abstract::The present trial was designed to test the effects of G-CSF on the duration of the second phase of induction chemotherapy in children with newly diagnosed acute lymphoblastic leukemia (ALL). A total of 32 patients were assigned randomly to a group that received (14 patients; group A) or a group that did not receive (1...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1600-0609.1995.tb01816.x
更新日期:1995-08-01 00:00:00
abstract:OBJECTIVE:To determine the financial and psycho-social impact of participation in clinical trials of patients with BCR/ABL-negative myeloproliferative neoplasms (MPN). METHODS:An international, observational cross-sectional study was performed in 143 consecutive MPN patients (51% myelofibrosis, 36% polycythemia vera, ...
journal_title:European journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/ejh.12887
更新日期:2017-07-01 00:00:00
abstract::Skeletal morbidity is a major problem in multiple myeloma. Histomorphometric studies have demonstrated that increased bone resorption can be present even in the absence of radiographic abnormalities. To overcome diagnostic problems in estimating the activity of bone resorption, new laboratory parameters that reflect b...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2002.00505.x
更新日期:2002-07-01 00:00:00
abstract::Type IIB is a special variant of von Willebrand's disease, characterized by an abnormal von Willebrand factor which shows an increased interaction with platelets. This interaction sometimes causes platelet aggregation and thrombocytopenia in vivo. It involves the glycoprotein-Ib (GPIb) receptor on platelets and corres...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1991.tb01858.x
更新日期:1991-11-01 00:00:00
abstract::Fludarabine is frequently used for treatment of B-cell chronic lymphocytic leukemia and in conditioning regimes for hematopoietic cell transplantations. The total body clearance of the principal metabolite 2-fluoro-ara-A (2F-Ara-A) correlates with the creatinine clearance. We report data on total dialysate concentrati...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2005.00439.x
更新日期:2005-06-01 00:00:00
abstract::A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnorma...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.066005312.x
更新日期:2001-05-01 00:00:00
abstract::MYH9 disorders are autosomal dominant macrothrombocytopenias with leukocyte inclusion bodies. Single point mutations in the protein-coding sequence of the MYH9 gene are the most common cause. So far no large gene deletion/insertion and splicing defects have been reported. Conventional DNA sequencing of each MYH9-codin...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2008.01046.x
更新日期:2008-06-01 00:00:00
abstract::Many hematopoietic cells undergo apoptosis when deprived of specific cytokines. Lipocalin 24p3, reported to be induced in hematopoietic cells by interleukin 3 (IL-3) depletion, induces hematopoietic cell apoptosis despite the presence of IL-3. As granulocyte colony stimulating factor (G-CSF) depletion also induces the...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1046/j.0902-4441.2003.00160.x
更新日期:2003-12-01 00:00:00
abstract::Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder of the hematopoietic stem cell that makes blood cells more sensitive to the action of complement. Patients experience intravascular hemolysis, smooth muscle dystonia, renal failure, arterial and pulmonary hypertension, recurrent infectious diseases and ...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/ejh.12543
更新日期:2015-09-01 00:00:00
abstract::Very high-dose chemotherapy with autologous blood stem cell (BSC) rescue becomes more and more widely performed. In order to simplify the technique, a large volume apheresis programme combined with an uncontrolled rate cryopreservation at -80 degrees C was developed. Twenty-six patients suffering from multiple myeloma...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.1996.tb00715.x
更新日期:1996-05-01 00:00:00