Abstract:
:The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct sequencing of coding exons of the perforin gene led to the identification of five different homozygous alterations. The nonsense W374X mutation was identified in three patients while four different missense mutations namely G149S, V50M, A91V and novel A523D were detected in the rest six patients.
journal_name
Leuk Resjournal_title
Leukemia researchauthors
Okur H,Balta G,Akarsu N,Oner A,Patiroglu T,Bay A,Sayli T,Unal S,Gurgey Adoi
10.1016/j.leukres.2007.11.033subject
Has Abstractpub_date
2008-06-01 00:00:00pages
972-5issue
6eissn
0145-2126issn
1873-5835pii
S0145-2126(07)00475-4journal_volume
32pub_type
杂志文章abstract::The purpose of this study was to determine the sensitivity to merocyanine 540 (MC 540)-mediated photolysis of normal human hematopoietic progenitor cells and four leukemia cell lines (Daudi, Raji, K562 and HL-60). Late erythroid progenitors were the most sensitive normal cells. Early erythroid progenitors were of inte...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(87)90104-4
更新日期:1987-01-01 00:00:00
abstract::To improve the recovery rate of high-risk patients with acute promyelocytic leukemia (APL), we used all-trans retinoic acid (ATRA)/arsenic trioxide (ATO)/daunorubicin combination in remission induction, daunorubicin and cytarabine in consolidation, and ATRA/ATO/methotrexate ± 6-mercaptopurine in maintenance treatment ...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2012.03.027
更新日期:2012-07-01 00:00:00
abstract::Microtubular reorganisation contributing to apoptotic morphology occurs in normal and neoplastic cells undergoing apoptosis induced by cytotoxic drugs [1-3]. The aim of this study was to correlate the changes in the microtubules (MTs) with behavior of the centrosome in apoptotic cells, and to see whether post-translat...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(97)00038-6
更新日期:1997-06-01 00:00:00
abstract:BACKGROUND:Telomerase disfunction leads to short telometric overhangs, potentially resulting in chromosome instability. AIMS:To better understand the role of overhang length in the progression of myelodysplastic syndrome (MDS). METHODS:Bone marrow samples of 62 Chinese MDS patients were screened for TERT and TERC gen...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2013.06.011
更新日期:2013-10-01 00:00:00
abstract::We compared the efficacy and toxicity of BEAM (BCNU, etoposide, cytarabine and melphalan) and BuCyE (busulfan, cyclophosphamide and etoposide), given prior to autologous stem cell transplantation (ASCT), in 65 patients with non-Hodgkin's lymphoma. Of these 65 patients, 43 received BEAM and 22 received BuCyE. Their age...
journal_title:Leukemia research
pub_type: 临床试验,杂志文章
doi:10.1016/j.leukres.2010.07.016
更新日期:2011-02-01 00:00:00
abstract::Checkpoint genes code for a family of proteins which sense DNA damage in eukaryotic cells. They play an important role in the control of the cell cycle. The human CHK2 is a homolog of the yeast G(2) checkpoint kinases known as CDS1 and RAD53. The CHK2 may be a tumor suppressor gene because it was found to be mutated i...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(00)00130-2
更新日期:2001-04-01 00:00:00
abstract::Discovering genetic predictors of childhood acute lymphoblastic leukemia (ALL) necessitates the evaluation of novel factors including maternal genetic effects, which are a proxy for the intrauterine environment, and robust epidemiologic study designs. Therefore, we evaluated five maternal and offspring xenobiotic meta...
journal_title:Leukemia research
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/j.leukres.2013.01.020
更新日期:2013-05-01 00:00:00
abstract::We have recently established the MV4-11 acute myelogenous leukemia (AML) subline, designated as MV4-11 TP53 R248W, which possesses a missense mutation (CGG→TGG; R248W) in the TP53 gene, leading to inactivation of this transcription factor. DNA methyltransferase (DNMT) inhibitor 5-Aza-2'-deoxycytidine (5-AzadC) induced...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2011.04.004
更新日期:2011-07-01 00:00:00
abstract::Chromosomal changes are necessary in determining the classification, prognosis and using the appropriate therapeutic regimen in acute leukemia. Isochromosomes are uncommon chromosome aberations in childhood acute lymphoblastic leukemia (ALL) and the effect of i(9q) is not well established. We present an 8-year-old mal...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2006.02.018
更新日期:2006-11-01 00:00:00
abstract::To elucidate the clinical and morphological differences between de novo acute myeloid leukemia (AML) with trilineage myelodysplasia (AML/TMDS) and AML developed from de novo myelodysplastic syndrome (MDS), we analyzed 12 and 13 cases, respectively. The median age of AML/TMDS patients was lower, but not significantly s...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(94)00134-v
更新日期:1995-02-01 00:00:00
abstract::The effects of prostaglandin (PG)E1, PGD2 and 9-deoxy-delta 9-PGD2 (PGJ2) on the clonogenic growth of six kinds of human leukemic cell lines (K562, KG1, HL60, U937, THP1 and Molt4) and normal human myeloid progenitor cells (CFU-GM) were studied using semisolid agar cultures. While the degree of suppression of leukemic...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(86)90087-1
更新日期:1986-01-01 00:00:00
abstract::The development of the leukemia-lymphoma complex was studied in AKR/J (H-2k) mice using flow cytometry and staining with acridine orange. Investigation of cytokinetics and of cellular RNA content showed that during the neonatal period all mice had a significant increase of S phase cells in the thymus, bone marrow, lym...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(85)90158-4
更新日期:1985-01-01 00:00:00
abstract::The aim of this study is to detect the biologic and/or prognostic significance of survivin (S) and effector protease receptor 1: EPR-1 (E) expression in acute leukemias (34 ALL and 40 AML) by using RT-PCR. S and E expressions were found in 83.8 and 20.3% of the cases, respectively. S was detected in 90%, 76.5% and E w...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2007.01.005
更新日期:2007-11-01 00:00:00
abstract::Argininosuccinate synthetase (ASS) is a ATP-dependent and rate-limiting enzyme of the urea cycle which catalyzes L-citrulline to L-arginine in combination with argininosuccinate lyase (ASL). We demonstrate here that (a) human normal T and B lymphocytes did not express ASS activity, (b) however, three adult T leukemia ...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(90)90184-b
更新日期:1990-01-01 00:00:00
abstract::A method using avidin-biotin complex (ABC) to detect the presence of the enzyme terminal deoxynucleotidyl transferase (TdT) is described and compared with a proven indirect immunofluorescence method. The material studied consisted of: (1) peripheral blood and bone marrow smears from 17 patients with leukemia (ALL, 8; ...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(83)90107-8
更新日期:1983-01-01 00:00:00
abstract::We have recently described that a variant of L1210 leukemia cell (L1210/LN-1) originally fused with Lesch-Nyhan fibroblast is highly immunogenic for inducing tumor-specific transplantation immunity in (BALB/cxDBA/2)F1 mice. This finding has clearly been confirmed in the present study by in-vitro cell-mediated cytotoxi...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(85)90316-9
更新日期:1985-01-01 00:00:00
abstract::Increased DNA damage and alteration of the DNA damage response (DDR) are critical features of genetic instability presumably implicated in pathogenesis of myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML). We used immunofluorescence staining of γH2AX and 53BP1 for analyzing DNA double-strand breaks (DS...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2017.03.011
更新日期:2017-06-01 00:00:00
abstract::Assessment of treatment response in acute leukemia is routinely performed after therapy via bone marrow biopsy. We investigated the use of positron emission tomography (PET) for early assessment of treatment response in patients with acute myeloid leukemia (AML), using the proliferation marker 3'-deoxy-3'-[(18)F]fluor...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2010.06.010
更新日期:2011-03-01 00:00:00
abstract::Aberrant promoter methylation may contribute to the hematopoietic disturbances in myelodysplastic syndromes (MDS). To explore a possible mechanism, we therefore analyzed expression of DNA methyltransferase (DNMT) subtypes kinetics and aberrant promoter methylation of key regulatory genes during MDS hematopoiesis. An i...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2008.08.014
更新日期:2009-03-01 00:00:00
abstract::A retrospective analysis of the relationship between the initial classification according to either FAB or WHO criteria, the presence of risk factors and the type of therapy including stem cell transplantation (SCT) on the survival was performed in a group of 106 patients with primary myelodysplastic syndrome (MDS) of...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2003.10.016
更新日期:2004-06-01 00:00:00
abstract::Homeobox genes HOXA9 and MEIS1 are evolutionarily conserved transcription factors with essential roles in both hematopoiesis and leukemogenesis. They act as dominant cooperating oncoproteins that cause acute leukemias bearing MLL translocations and to a lesser extent T-cell acute lymphocytic leukemia (ALL) characteriz...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2015.04.012
更新日期:2015-08-01 00:00:00
abstract::Gain-of-function mutations in the proto-oncogene c-kit that induce constitutive kinase activity of its product, KIT protein, are characteristic of human mast cell disease and are believed to play a central role in mast cell leukemia oncogenesis, proliferation and survival. Nuclear overexpression of the Wnt effector be...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2007.08.023
更新日期:2008-05-01 00:00:00
abstract::The expression of various proto-oncogenes in primary culture of lymphocytes from peripheral blood of bovine with chronic lymphocytic leukemia (CLL) was studied. Cellular proto-oncogenes encode proteins that propagate growth, differentiation or apoptosis signals from cell membrane to nucleus. The proliferation and diff...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(97)00128-8
更新日期:1998-02-01 00:00:00
abstract::Delocalized lipophilic cation dequalinium (DQA) selectively accumulates in mitochondria and displays anticancer activity in different malignancies. Our previous studies indicate a DQA-induced cytotoxicity in human acute promyelocytic leukemia NB4 cells by early disturbance in mitochondrial function and oxidative stres...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2014.01.009
更新日期:2014-07-01 00:00:00
abstract::The impact of socioeconomic status (SES) upon childhood cancer outcomes has not been extensively examined. Our objective was to determine the association between SES and event-free survival (EFS) among children with acute lymphoblastic leukemia (ALL) diagnosed in Ontario, Canada from 1995-2011 (N=1541) using Cox propo...
journal_title:Leukemia research
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/j.leukres.2014.08.017
更新日期:2014-12-01 00:00:00
abstract::Chronic lymphocytic leukemia (CLL) is rare in Asians living in Asia and possibly in US Asians. In contrast, CLL is the most common leukemia in whites. The basis for this ethnic and geographic variation is unknown. We compared average annual age-adjusted incidence rates (AAIR) of CLL diagnosed from 1972 to 1995 among L...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(00)00038-2
更新日期:2000-08-01 00:00:00
abstract::240 patients with MDS studied cytogenetically at diagnosis between 1981 and 1990 were followed until death or until April 1992 to evaluate the prognostic significance of FAB classification, age and karyotype. 61 patients (25.4%) subsequently transformed into AML and 176 (73.3%) died during the follow-up period. Patien...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(94)00131-s
更新日期:1995-05-01 00:00:00
abstract::During 2004-2006, two hypomethylating agents (HMAs) were approved for the treatment of myelodysplastic syndromes (MDS) in the United States. We assessed the impact of HMAs on the cost of care and survival of MDS patients, by constructing a cohort of patients who were diagnosed during 2001-2007 (n=6556, age ≥66.5 years...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2012.07.020
更新日期:2012-11-01 00:00:00
abstract::Chlorambucil-induced apoptosis was assessed by three different flow cytometric methods in B-cell chronic lymphocytic leukaemia (B-CLL) cells cultured in vitro and the results were compared with those derived from the morphological assessment of the same samples. Spontaneous apoptosis was consistently observed in the c...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(98)00013-7
更新日期:1998-05-01 00:00:00
abstract::We describe here a unique case of therapy-related myelodysplastic syndrome (t-MDS) with inv(16)(p13q22) after autologous stem cell transplantation for lymphoma. The rare and smallest I type CBFbeta/MYH11 fusion transcript with a breakpoint at nucleotide 399 of CBFbeta and at nucleotide 2134 of MYH11 was detected in th...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2005.08.001
更新日期:2006-03-01 00:00:00