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-coding exon showed no abnormalities in a patient. Reverse transcription- polymerase chain reaction (PCR) amplification and sequencing of neutrophil mRNA identified an inframe deletion of exon 25. Further long-range PCR amplification of genomic DNA revealed a deletion of 1220 nucleotides including entire exon 25. Immunoblot analysis showed a small, abnormal protein in neutrophils but not in platelets. This is the first report of a large deletion of the MYH9 gene leading to the development of MYH9 disorders.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Kunishima S,Matsushita T,Hamaguchi M,Saito Hdoi
10.1111/j.1600-0609.2008.01046.xsubject
Has Abstractpub_date
2008-06-01 00:00:00pages
540-4issue
6eissn
0902-4441issn
1600-0609pii
EJH1046journal_volume
80pub_type
杂志文章abstract::Host-derived Langerhans cells (LCs) are crucial antigen-presenting cells that cause graft-vs.-host disease after allogeneic haematopoietic stem cell transplantation (HSCT). However, chimaerism of LCs after allogeneic HSCT is largely unknown in humans. We here report a case that developed dermatopathic lymphadenitis ac...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2005.00595.x
更新日期:2006-03-01 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::As in western Europe and the USA, chronic lymphocytic leukaemia (CLL) in Latvia is the most prevalent type of leukaemia. A total of 1509 newly diagnosed cases of B-cell chronic lymphocytic leukaemia entered the study, 440 of whom were followed up at the Latvian Haematology Centre. The main peculiarities of the study w...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1993.tb00633.x
更新日期:1993-10-01 00:00:00
abstract:OBJECTIVES:Current prognostic models for myelodysplastic syndrome (MDS) do not consider the prognostic value of a bone marrow blast level that is <5%. Exploring the prognostic value of the International Prognostic Scoring System (IPSS) and a marrow blast level that is <5% may lead to better risk-adapted therapeutic str...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01343.x
更新日期:2009-12-01 00:00:00
abstract::We are reporting here the results of differential gene expression experiments comparing two siblings, a 21-yr-old male and a 19-yr-old female, with the same alpha-thalassemia genotype (-alpha(3.7)/(--SEA)) and quite different levels of Hb H in the peripheral blood (18.7 and 5%, respectively). By using mRNA differentia...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01325.x
更新日期:2009-11-01 00:00:00
abstract::In a prognostic univariate analysis of a series of 80 patients with idiopathic myelofibrosis the Hb-concentration, the platelet count and osteomyelosclerosis emerged as factors with prognostic significance. A Hb-concentration less than 10 g/dl was associated with a significantly shorter survival than a Hb-concentratio...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00372.x
更新日期:1990-03-01 00:00:00
abstract::Between December, 1984, and May, 1986, 98 CSF samples were sent to a central laboratory by postal express. The samples could be kept in a medium for up to 24 hours after the lumbar puncture. The quality of the cells proved to be good. Excluded were 5 samples delayed in delivery and 13 samples contaminated with blood, ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00832.x
更新日期:1988-03-01 00:00:00
abstract::Interferon (IFN) is one of several drugs effective in treating multiple myeloma (MM), and propagermanium is an IFN inducer. We report on 10 MM patients who were treated with propagermanium at doses from 10 to 40 mg. Two patients achieved complete remission (CR), two patients achieved partial remission (PR), and the co...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.2004.00330.x
更新日期:2004-12-01 00:00:00
abstract::Propagation of the vaso-occlusive process in sickle cell anaemia (SCA) is a complex process involving the adhesion of steady-state SCA patients red cells and reticulocytes to the vascular endothelium. The effect of hydroxyurea therapy (HUT) on the adhesive properties of sickle cells and the expression of adhesion mole...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2006.00788.x
更新日期:2007-02-01 00:00:00
abstract:OBJECTIVES:Internal tandem duplications (ITDs) of the fms-like tyrosine kinase 3 ( FLT3) gene occur in 13-35% of patients with acute myeloid leukemia (AML). FLT3-ITD is associated with poor clinical outcome and is an indication for allogeneic stem cell transplantation (allo-SCT). METHODS:To investigate FLT3-ITD length...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2012.01785.x
更新日期:2012-07-01 00:00:00
abstract:OBJECTIVE:For transplantation of cord blood (CB) cells, it is important to select a CB sample that can reconstitute not only myelo-erythropoiesis but also lymphopoiesis in recipients. However, until now the reconstitution ability of CB samples has been assessed by colony forming unit-culture (CFU-C) assay or by simply ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00991.x
更新日期:2008-02-01 00:00:00
abstract::Downregulation of cereblon (CRBN) gene expression is associated with resistance to the immunomodulatory drug lenalidomide and poor survival outcomes in multiple myeloma (MM) patients. However, the importance of CRBN gene expression in patients with myelodysplastic syndrome (MDS) and its impact on lenalidomide therapy ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12457
更新日期:2015-07-01 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:OBJECTIVE:Infections in chronic lymphocytic leukemia (CLL) have been thoroughly investigated in the setting of clinical trials and single-center studies. However, large cohort studies on real-world data and studies on temporal trends are lacking. We performed a nationwide study on serious bacterial infections in CLL. ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13477
更新日期:2020-11-01 00:00:00
abstract::Platelet refractoriness arising from HLA immunization develops in 20-50% of multitransfused patients with hematologic malignancies. We retrospectively analyzed the efficiency of leukocyte-depleted blood components in preventing refractoriness in 140 adult patients with acute myeloid leukemia (AML), treated according t...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1994.tb01872.x
更新日期:1994-08-01 00:00:00
abstract::We analyzed the expression of the inhibitor of apoptosis survivin by immunocytochemistry in bone marrow cells from patients with chronic myelomonocytic leukemia (CMML) to evaluate possible abnormalities in comparison with other myelodysplastic (MDS) and myeloproliferative syndromes, and to investigate a possible corre...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.0902-4441.2006.t01-1-EJH2588.x
更新日期:2006-06-01 00:00:00
abstract::Acute tumour lysis syndrome (ATLS) is a well recognised complication of treatment of a variety of malignant disorders. It commonly occurs in patients with non-Hodgkin's lymphoma (NHL) and acute lymphoblastic leukaemia (ALL) with the administration of combined cytotoxic chemotherapy. It is rarely reported after single-...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1034/j.1600-0609.2001.066006404.x
更新日期:2001-06-01 00:00:00
abstract::Treatment with all-trans retinoic acid (ATRA) improves the prognosis of patients with acute promyelocytic leukemia (APL), but ATRA syndrome may occur as a possible fatal side effect, especially in cases refractory to medication or involving pulmonary hemorrhage. We describe two patients with APL who suffered from intr...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.0902-4441.2006.t01-1-EJH2852.x
更新日期:2006-11-01 00:00:00
abstract::Tissue factor (TF) production is under strict control in mature monocytic cells. However, constitutive expression of TF can be found in myelomonocytic cells and in haematopoietic cells arrested at an early stage of differentiation. In this paper we show that TF expression is down-regulated during the monocyte/granuloc...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1999.tb01124.x
更新日期:1999-08-01 00:00:00
abstract::Several studies have reported data on factors influencing mobilization of peripheral blood stem cells (PBSC) in non-myeloid malignancies. On the contrary, data from patients with acute myeloid leukemia (AML) are very limited, in particular, as the impact of an antecedent diagnosis of refractory anemia with excess blas...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2006.00777.x
更新日期:2007-01-01 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:BACKGROUND:Paroxysmal nocturnal hemoglobinuria (PNH) diagnostic guidelines recommend single-tube five- to six-color or two-tube four-color assays. PNH clones are detectable in only a fraction of patients at risk, and screening for new PNH cases can be complex and expensive. In this multicenter study, we have validated ...
journal_title:European journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/ejh.12885
更新日期:2017-07-01 00:00:00
abstract::Iron is an important mineral element required for diverse life processes. Its metabolism is almost synonymous to erythrocyte maintenance, erythropoiesis and erythrophagocytosis. Consequently, exercise exertion impacts significantly on red cell haematology. Here, the interactions between exercise and erythropoiesis are...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/ejh.12026
更新日期:2013-01-01 00:00:00
abstract::The oncogenes c-myc and c-ras are known to elicit a cooperative tumorigenicity. In this study we investigated their role in the pathogenesis of Hodgkin's disease. The expression of these oncogenes was determined in Hodgkin's disease patients by avidin-biotin peroxidase complex immunohistochemical staining and was comp...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1995.tb00247.x
更新日期:1995-09-01 00:00:00
abstract::Plasma and cellular pharmacokinetics of m-AMSA were investigated in 5 patients with acute leukemia, using HPLC. The pharmacokinetic data served as a guideline for in vitro toxicity tests on clonogenic bone marrow cells. m-AMSA was administered as a 3-hour intravenous infusion of 100 mg/m2. Median plasma and nucleated ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1993.tb00083.x
更新日期:1993-03-01 00:00:00
abstract:OBJECTIVE:A new interleukin-6 (IL-6)-dependent plasma cell leukemia cell line UHKT-944 was established from bone marrow cells derived from a 55-yr-old man with plasma cell leukemia. RESULTS:The cell line possesses phenotypic characteristics of plasma cells including the production of a monoclonal immunoglobulin IgA1-k...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12505
更新日期:2015-10-01 00:00:00
abstract::Karyotype analysis of bone marrow samples was performed in 20 cases of essential thrombocythemia (ET) at the time of diagnosis. Three patients had karyotype abnormalities at the time of diagnosis; trisomy 8, deletion of Y, and del(9)(q?) in each. The patient who had trisomy 8 at the time of diagnosis underwent myeloid...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2002.01601.x
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVES:Beta thalassaemia major (β-TM) and sickle-cell disease (SCD) are severe haemogobinopathies requiring life-lasting, advanced medical management. In the Mediterranean region, both conditions occur with high frequency. We assessed the efficacy of the National Program for the Prevention of Haemoglobinopathies in...
journal_title:European journal of haematology
pub_type: 历史文章,杂志文章
doi:10.1111/ejh.12076
更新日期:2013-04-01 00:00:00
abstract:OBJECTIVES:Combined high-dose Interferon-alpha and psoralen plus ultraviolet A irradiation (PUVA) have been reported to be effective in the treatment of early mycosis fungoides (MF); however, our study is the first controlled prospective study in the literature exploring the activity and tolerability of the combination...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/j.1600-0609.2005.00497.x
更新日期:2005-08-01 00:00:00
abstract::For patients with severe and refractory autoimmune diseases, high-dose chemotherapy and autologous hematopoietic stem cell transplantation has been established as a considerable therapeutic option in recent years. In this retrospective single-center analysis, we assessed the feasibility and efficacy of peripheral bloo...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.12686
更新日期:2016-07-01 00:00:00