Abstract:
:Three novel point mutations were detected in the glucocerebrosidase gene of three unrelated Gaucher's disease patients by direct sequencing of PCR products. The first is a C to G change at position 4263 in the genomic sequence (exon 7) which results in a proline to arginine change at position 266 in the mature enzyme (P266R). The second is a G to C change at position 5276 in the genomic sequence (exon 8) which results in an aspartic acid to histidine change at position 315 (D315H). The third is a C to A change at position 5286 in the genomic sequence (exon 8) which results in an alanine to aspartic acid change at position 318 (A318D). The first mutation destroys an AvaII restriction endonuclease site, the second creates a BspMI site and the third creates a BamH I site.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Walley AJ,Ellis I,Harris Adoi
10.1111/j.1365-2141.1995.tb05298.xsubject
Has Abstractpub_date
1995-10-01 00:00:00pages
330-2issue
2eissn
0007-1048issn
1365-2141journal_volume
91pub_type
杂志文章abstract::Liposome-entrapped desferrioxamine was administered to iron-over-loaded 59Fe lavelled mice. When given orally or intraperitoneally entrapment did not enhance the effect of the chelator, but given intravenously liposomal desferrioxamine doubled the 59Fe excretion for a given dose of the drug, and excretion after a sing...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb05868.x
更新日期:1979-03-01 00:00:00
abstract::Between 1990 and 1999, 36 children with refractory anaemia with excess blasts (RAEB) and RAEB in transformation (RAEBt), not associated with Down's syndrome, were diagnosed in Britain. A total of 31 children received intensive chemotherapy, six of whom proceeded to a bone marrow allograft in first remission, whereas t...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2141.2002.03369.x
更新日期:2002-04-01 00:00:00
abstract::The E4BP4 basic leucine zipper (bZIP) transcription factor is regulated by interleukin-3 (IL-3) in pro-B cells and has been reported to promote survival of the murine IL-3-dependent pro-B cell lines, FL5.12 and Baf-3. The E2A-HLF oncoprotein arises from a t(17;19) translocation in childhood pro-B cell acute lymphoblas...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.04953.x
更新日期:2004-06-01 00:00:00
abstract::A patient presented with haemolytic anaemia and a negative direct antiglobulin test (DAT), and was found to have an IgG antibody with anti-Jka specificity in his serum. His red cells were typed as Jk(a-b+). Later he developed idiopathic thrombocytopenic purpura (ITP), and had a positive DAT due to anti-Jka bound to hi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb02411.x
更新日期:1988-08-01 00:00:00
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
更新日期:2014-07-01 00:00:00
abstract::Bone disease in patients with thalassaemia major is a multifactorial and still poorly understood process. The present study evaluated 45 thalassaemic patients using dual X-ray absorptiometry at three sites (lumbar spine, head of femur and forearm) to assess bone mineral density, in parallel with a series of biochemica...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02549.x
更新日期:2001-01-01 00:00:00
abstract::Systemic inflammation activates the tissue factor/factor VIIa complex (TF/FVIIa), leading to a procoagulant state, which may be enhanced by impairment of physiological anticoagulant pathways, such as the protein C system. Besides impaired protein C activation, resistance to activated protein C (APC) may occur. We stud...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06127.x
更新日期:2006-07-01 00:00:00
abstract::18F-fluoro-deoxyglucose (FDG) positron emission tomography (PET) might be a better tool than computerized tomography (CT) in predicting long-term treatment outcome in patients with relapsed chemosensitive lymphoma who are candidates for autologous stem cell transplantation (ASCT). We studied patients with recurrent or...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04593.x
更新日期:2003-10-01 00:00:00
abstract::Routine testing on plasma from a patient due to undergo a coronary artery bypass graft operation revealed a prolonged thrombin clotting time associated with a normal plasma fibrinogen level when this was determined by a method not dependent upon the rate of fibrin formation. Fibrinogen purified from the patient's plas...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1980.tb05918.x
更新日期:1980-03-01 00:00:00
abstract::The erythrocyte chemokine receptor, a receptor for Plasmodium vivax, carries the antigens of the Duffy blood group system. Sequence analysis of reticulocyte RNA from individuals of known Duffy phenotype showed that the Fya antigen differs from the Fyb antigen as a result of a single nucleotide difference (A131 or G) e...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05202.x
更新日期:1995-08-01 00:00:00
abstract::Transient myeloproliferative disorder (TMD) of the newborn and acute megakaryoblastic leukaemia (AMKL) in children with Down syndrome (DS) represent paradigmatic models of leukaemogenesis. Chromosome 21 gene dosage effects and truncating mutations of the X-chromosomal transcription factor GATA1 synergize to trigger TM...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2012.09028.x
更新日期:2012-04-01 00:00:00
abstract::Survivin is overexpressed in several types of haematological malignancies making it an attractive target for therapeutic cytotoxic T-lymphocyte responses. Here, we identify two peptide epitopes derived from the murine survivin protein and demonstrate that Balb/c mice treated with syngeneic dendritic cells pulsed with ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04535.x
更新日期:2003-09-01 00:00:00
abstract::Two cases of Ph1-positive chronic granulocytic leukaemia with hitherto undescribed translocations are presented. In case 1 the deleted part of chromosome number 22q- was translocated to the short arm of the X chromosome, t(X;22)(p22;q11). Pronounced basophilia, trisomy 19 in the majority of metaphases, and a partial c...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb05847.x
更新日期:1979-02-01 00:00:00
abstract::We studied erythrocyte calcium levels and uptake in a group of patients with sickle haemoglobinopathies of different clinical severity in an attempt to relate these measurements to the production of irreversibly sickled cells and disease severity. Erythrocyte calcium levels were measured by atomic absorption spectrosc...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1978.tb05829.x
更新日期:1978-12-01 00:00:00
abstract::Combined lenalidomide and dexamethasone is a standard-of-care therapy for the treatment of older adults with multiple myeloma. Lenalidomide monotherapy has not been evaluated in newly diagnosed myeloma patients. We conducted a phase II study, evaluating a response-adapted therapy for older adults newly diagnosed with ...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/bjh.15700
更新日期:2019-03-01 00:00:00
abstract::We have earlier demonstrated that in a family with a tendency to recurrent venous thrombosis the release of tissue plasminogen activator (t-PA) activity in blood after stimulation was abnormally low. This observation could be related either to an impaired release of t-PA into the blood stream or to a masking of the re...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb02261.x
更新日期:1987-02-01 00:00:00
abstract::We tested whether parvovirus B19 (PVB19) is involved in benign lymph node swelling as a causative agent. The serum specimens from 13 patients with lymph node swelling of unidentified cause were tested for IgM and IgG antibody against PVB19 by Western blot analysis. Five patients had IgM antibody, and PVB19 DNA was det...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:
更新日期:1993-11-01 00:00:00
abstract::ATOH8 has previously been shown to be an iron-regulated transcription factor, however its role in iron metabolism is not known. ATOH8 expression in HEK293 cells resulted in increased endogenous HAMP mRNA levels as well as HAMP promoter activity. Mutation of the E-box or SMAD response elements within the HAMP promoter ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12649
更新日期:2014-02-01 00:00:00
abstract::The maintenance of physiological levels of haemoglobin is beneficial in the management of patients with thalassaemia major since it leads to better tissue oxygenation, reduction of blood volume, and reduced intestinal absorption of iron. We have studied 11 patients with thalassaemia major while treating them for 4-12 ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb03867.x
更新日期:1982-09-01 00:00:00
abstract::When stimulated in vitro, human platelets release matrix metalloproteinase-2 (MMP-2) that, in turn, potentiates platelet activation. The present study investigated if MMP-2 is released from activated platelets in vivo in humans and whether aspirin inhibits this release. MMP-2 levels were measured by zymography, immuno...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2007.06632.x
更新日期:2007-07-01 00:00:00
abstract::We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature a...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03426.x
更新日期:2002-05-01 00:00:00
abstract::The use of peripheral blood stem cells instead of bone marrow as the source of haemopoietic cells for allogeneic transplantation is being increasingly explored. We have analysed data from 17 normal donors who underwent stem cell mobilization for allogeneic transplantation with an identical protocol using G-CSF at a do...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-1897.x
更新日期:1996-11-01 00:00:00
abstract::Previous studies have reported that megakaryocyte progenitors in myeloproliferative disorders (MPD) formed spontaneous megakaryocyte colonies without the addition of megakaryocyte colony-stimulating factor (Meg-CSF). To determine whether this spontaneous colony formation is due to autocrine proliferation of MPD megaka...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb04688.x
更新日期:1993-04-01 00:00:00
abstract::To study the pathogenesis of multicentric Castleman's disease (MCD), IL-6 producing cells and immune function were investigated in four MCD patients. The expression of IL-6 mRNA in one MCD lymph node was analysed by in situ hybridization. IL-6 mRNA expressing cells were scattered in the interfollicular areas and did n...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04777.x
更新日期:1994-03-01 00:00:00
abstract::The combination of interleukin (IL)-4 and IL-10 protects against blood-induced cartilage damage in vitro. It has been hypothesized that the combination of these cytokines is effective if applied early in the process of cartilage damage. The present study investigated whether a single intra-articular injection of IL-4 ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12148
更新日期:2013-02-01 00:00:00
abstract::The proportion of T gamma and T mu lymphocytes was studied in 40 cases of B-chronic lymphocytic leukaemia (B-CLL) and six of B-prolymphocytic leukaemia (B-PLL). The significant increase in T gamma cells, previously reported in two small B-CLL series, was confirmed and shown to be directly correlated with the clinical ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1981.tb02682.x
更新日期:1981-04-01 00:00:00
abstract::Experiments were performed to investigate the relative role of phospholipase A2 (PLA2) in the activation and cytokine-mediated priming of neutrophil superoxide production. PLA2 activity was measured with a radiometric assay which discriminates between PLA2 and the downstream enzyme, 5-lipoxygenase. In cells that had n...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.432970.x
更新日期:1996-03-01 00:00:00
abstract::Platelet associated C3c and C3d (PAC3c and PAC3d) were quantitated by enzyme linked assay in 105 patients with idiopathic autoimmune thrombocytopenia (AITP) in whom elevated platelet associated immunoglobulins (IgG and IgM) had previously been documented. Increased levels of complement components were demonstrated in ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1985.tb07384.x
更新日期:1985-05-01 00:00:00
abstract::Much of the variability in the sensitivity to warfarin in anticoagulated patients is associated with the c.-1639G > A polymorphism of the vitamin K-epoxide reductase (VKORC1) gene. However, its association with the acenocoumarol dose in patients under anticoagulant therapy has not been studied. The c.-1639G > A genoty...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06007.x
更新日期:2006-04-01 00:00:00
abstract::Expression of the mdr1 (multidrug resistance), mrp (multidrug resistance associated protein), and lrp (lung resistance related protein) genes is associated with transport related MDR (multidrug resistance). We quantified mRNA levels of these genes using competitive reverse transcription polymerase chain reaction (RT-P...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01611.x
更新日期:1999-09-01 00:00:00