Abstract:
:Deficiency in DNA repair capability is considered to be responsible for oncogenesis. Hereditary and sporadic cancers in various tissues have been reported to have mutations at the DNA repair genes. In this study we analysed two excision repair genes (ERCC1 and XPCC) and two mismatch repair genes (hMSH2 and hMTH1) in the leukaemic blasts of newly diagnosed paediatric patients by use of reverse transcriptase (RT)-polymerase chain reaction (PCR). Analysis of the leukaemic blasts from 15 patients demonstrated no alterations at the XPCC, hMSH2 or hMTH1 genes. Blasts from one patient with acute mixed lineage leukaemia revealed an abnormally migrated product of the ERCC1 gene by RT-PCR. His leukaemic blasts showed a reduced expression of ERCC1 protein by Western blotting. Since bone marrow cells at remission showed only normally migrated product, the ERCC1 gene mutation was considered to be specific for the leukaemic blasts. This is the first report describing a mutation at the ERCC1 gene in acute childhood leukaemia.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Lin YW,Kubota M,Koishi S,Sawada M,Usami I,Watanabe K,Akiyama Ydoi
10.1046/j.1365-2141.1998.00973.xsubject
Has Abstractpub_date
1998-11-01 00:00:00pages
462-6issue
2eissn
0007-1048issn
1365-2141journal_volume
103pub_type
杂志文章abstract::The issue of whether, in patients affected by myelodysplastic syndromes (MDS), haematological response to cytokines, particularly to recombinant human erythropoietin (rHuEpo), is a phenomenon related to the stimulation of normal haemopoietic cells or to the differentiation of cells belonging to the abnormal clone rema...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03867.x
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abstract::β- thalassaemia is a disorder of globin gene synthesis resulting in reduced or absent production of the β-globin chain in red blood cells. In this study, haematopoietic stem cells were isolated from the peripheral blood of six transfusion dependent β-thalassaemia patients and six healthy controls. Following 7 and 14 d...
journal_title:British journal of haematology
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journal_title:British journal of haematology
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doi:10.1046/j.1365-2141.2003.04602.x
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abstract::Diamond-Blackfan anaemia (DBA) is a constitutional pure red cell aplasia presenting in early childhood. In some patients, neutropenia and/or thrombocytopenia have also been observed during the course of the disease. We have followed 28 patients with steroid-refractory DBA for up to 13 years with serial peripheral bloo...
journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::Patients with idiopathic anaemias associated with abnormal sideroblasts were defined according to morphologic and ferrokinetic criteria and the haematologic and biochemical effects of vitamin B6 therapy were evaluated. While all patients presented similar clinical pictures, peripheral blood changes and bone marrow abn...
journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::The prevalence of obesity has increased substantially over recent years. Clinicians are increasingly being challenged with making uncertain anticoagulant dosing decisions, as the optimal dosing strategy for most anticoagulants in the obese patient population remains unknown. Research published to date suggests that th...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
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abstract::The Abl kinase inhibitor STI571 (imatinib mesylate) induces haematological remissions in many patients with chronic myeloid leukaemia (CML) but advanced stage CML usually becomes resistant to STI571. We describe a patient in whom progressive resistance to STI571 correlated with the appearance of a mutation in the Bcr-...
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journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::A patient with Jo-1 antibody-associated polymyositis (Jo-1 PM) had a Karnofsky score of 40% and severe muscle, liver and lung damage that was refractory to standard therapy. The female patient received an autologous T-cell-depleted haematopoietic stem cell transplant (HSCT) after myeloablative conditioning. The transp...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2000-08-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章,评审
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abstract::Mutations of the DNA mismatch repair (MMR) gene hMLH1 have recently been linked to the development of some hereditary and sporadic cancers which frequently display widespread microsatellite instability (MSI). Conflicting results regarding the extent of MSI in myeloid leukaemias prompted us to perform mutational analys...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01595.x
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abstract::Changes in DNA copy number (CN) and DNA methylation represent important aberrations for lymphomas and other cancers. Here, for the first time, we show that the Illumina Infinium Methylation (IIM) assay, although not originally designed for CN profiling, is able to estimate CN changes. We compared the IIM CN profiles t...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2011.08946.x
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02859.x
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abstract::We present a Ph-positive chronic myeloid leukaemia patient who lost a complete cytogenetic response (CCR) of 23 months duration at the time of detection of a deletion, not previously observed, of chromosomes 9 and 22 sequences flanking the translocation breakpoint on the derivate 9 chromosome. To our knowledge, this i...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03432.x
更新日期:2002-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2002-01-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2010.08303.x
更新日期:2010-09-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2008.07411.x
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abstract::Pulmonary hypertension (PH) in patients with sickle cell disease (SCD) is linked to intravascular haemolysis, impaired nitric oxide bioavailability, renal dysfunction, and early mortality. Asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide synthases (NOS), is associated with vascular disease i...
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pub_type: 杂志文章
doi:10.1111/j.1365-2141.2009.07658.x
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2009-11-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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abstract::Although the beta thalassaemia trait affects millions of people worldwide, there have been no controlled studies to determine whether it is associated with any clinical disability or abnormal physical signs. To address this question, 402 individuals were studied: 217 with beta thalassaemia trait, of whom 154 were awar...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2008-05-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1975.tb00513.x
更新日期:1975-05-01 00:00:00
abstract::The Complement 1 trial investigated the efficacy and safety of ofatumumab + chlorambucil with chlorambucil monotherapy in patients with previously untreated chronic lymphocytic leukaemia (CLL). On long-term follow-up in the chemoimmunotherapy arm vs. the chemotherapy arm there was an estimated 12% (not significant) an...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2020-09-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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