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Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Malaria has occurred in the Cabo Verde archipelago with epidemic characteristics since its colonization. Nowadays, it occurs in Santiago Island alone and though prophylaxis is not recommended by the World Health Organization, studies have highlight the prospect of malaria becoming a serious public health problem as a result of the presence of antimalarial drug resistance associated with mutations in the parasite populations and underscore the need for tighter surveillance. Despite the presumptive weak immune status of the population, severe symptoms of malaria are not observed and many people present a subclinical cour...
Source: Blood Cells, Molecules & Diseases - October 16, 2009 Category: Hematology Authors: Alves J, Machado P, Silva J, Gonçalves N, Ribeiro L, Faustino P, do Rosário VE, Manco L, Gusmão L, Amorim A, Arez AP Tags: Blood Cells Mol Dis Source Type: journals

Erythropoietin receptor signaling regulates both erythropoiesis and megakaryopoiesis in vivo.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Transgenic expression of a gain-of-function truncated mouse erythropoietin receptor gene (EpoR) leads to expansion of the HSC pool in response to human erythropoietin (Epo). We have re-examined this observation using a knock-in mouse model, wherein the mouse EpoR gene was replaced in its proper genetic locus by a single copy of either a wild-type human or a polycythemia-inducing truncated human EPOR gene. Bone marrow cells obtained from knock-in mice were transplanted together with competitor bone marrow cells in a model that allows tracking of erythroid, platelet, and leukocyte contributions by each genotype. Secondar...
Source: Blood Cells, Molecules & Diseases - October 16, 2009 Category: Hematology Authors: Huang X, Pierce LJ, Chen GL, Chang KT, Spangrude GJ, Prchal JT Tags: Blood Cells Mol Dis Source Type: journals

Stoichiometries of transferrin receptors 1 and 2 in human liver.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Mutations in either the hereditary hemochromatosis protein, HFE, or transferrin receptor 2, TfR2, result in a similarly severe form of the most common type of iron overload disease called hereditary hemochromatosis. Models of the interactions between HFE, TfR1, and TfR2 imply that these proteins are present in different molar concentrations in the liver, where they control expression of the iron regulatory hormone, hepcidin, in response to body iron loading. The aim of this study was to determine in vivo levels of mRNA by quantitative RT-PCR and concentrations of these proteins by quantitative immunoblotting in human l...
Source: Blood Cells, Molecules & Diseases - October 9, 2009 Category: Hematology Authors: Chloupková M, Zhang AS, Enns CA Tags: Blood Cells Mol Dis Source Type: journals

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19819171 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules & Diseases - October 8, 2009 Category: Hematology Authors: Chang KL, Hwu WL, Yeh HY, Lee NC, Chien YH Tags: Blood Cells Mol Dis Source Type: journals

Clinical characteristics and prognostic analysis of Chinese patients with diffuse large B-cell lymphoma.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this report, we examine several biological markers in 83 patients with DLBCL enrolled in our hospital, including cell origin, serum lactate dehydrogenase (LDH) levels, and international prognostic index (IPI), in order to find the best combination of prognostic factors. We also examined whether DLBCL has a significant geographic difference, since several studies have suggested that the prevalence and potential etiological factors of lymphomas in China may be different from those in other countries. Our results demonstrate that: (1) patients in China have higher extranodal tissue involvement and different extranodal orga...
Source: Blood Cells, Molecules & Diseases - October 8, 2009 Category: Hematology Authors: Ke X, Wang J, Gao Z, Zhao L, Li M, Jing H, Wang J, Zhao W, Gilbert H, Yang XF Tags: Blood Cells Mol Dis Source Type: journals

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia. Three uncommon non-synonymous polymorphisms were identified, G228D, R446W, and V795I (allele frequencies 0.0074, 0.023 and 0.0074 respectively), of which the R446W polymorphism appeared to be overrepresented in the anemic population. In addition, three children with iron refractory iron deficiency anemia, and one sibling with iron responsive iron deficiency anemia were also examined for polymorphisms or sporadic mutations in TMPRSS6....
Source: Blood Cells, Molecules & Diseases - October 7, 2009 Category: Hematology Authors: Beutler E, Van Geet C, Te Loo DM, Gelbart T, Crain K, Truksa J, Lee PL Tags: Blood Cells Mol Dis Source Type: journals

Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Gaucher disease is the first lysosomal disorder for which clinically effective enzyme replacement therapy has been introduced. Lifelong treatment with imiglucerase, the recombinant glucocerebrosidase manufactured by the Genzyme Corporation (MA, USA), is administered intravenously - usually at biweekly intervals. An acute shortage of imiglucerase (to 20% of prior global supply) has occurred as a result of viral contamination of the production facility; production was halted, and a full supply of imiglucerase is not anticipated until January 2010. An urgent meeting of physicians, researchers, and patients was convened t...
Source: Blood Cells, Molecules & Diseases - October 3, 2009 Category: Hematology Authors: Hollak CE, Vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda MC, Tylki-Szymanska A, Zimran A, Cox T Tags: Blood Cells Mol Dis Source Type: journals

A case report of spontaneous mutation (C33>U) in the iron-responsive element of l-ferritin causing hyperferritinemia-cataract syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A case report of spontaneous mutation (C33>U) in the iron-responsive element of l-ferritin causing hyperferritinemia-cataract syndrome. Blood Cells Mol Dis. 2009 Oct 1; Authors: Cao W, McMahon M, Wang B, O'Connor R, Clarkson M The hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by juvenile-onset cataracts and elevated serum ferritin levels. It is caused by mutation in the iron response element (IRE) within the 5'UTR of l-ferritin gene. The mutation results in a loss of post-transcriptional negative feedback exerted by the interaction between iron regulato...
Source: Blood Cells, Molecules & Diseases - October 1, 2009 Category: Hematology Authors: Cao W, McMahon M, Wang B, O'Connor R, Clarkson M Tags: Blood Cells Mol Dis Source Type: journals

The clinical course of untreated Gaucher disease in 22 patients over 10 years: Hematological and skeletal manifestations.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We examined retrospectively the natural history of GD and the extent of skeletal manifestations in 22 untreated type 1 GD adult patients (mean age, 49+/-3.3; range, 20-81 years). The patients were followed for a median of 9.5 years (range, 3-16 years). Hemoglobin (Hb) concentration did not significantly change over time (mean baseline concentration of 12.8+/-0.27 g/dL vs. mean recent concentration of 12.6+/-0.37 g/dL, p=0.65). Mean platelet count also remained relatively stable over time (mean baseline count of 138+/-13x10(9)/L vs. mean recent count of 138.5+/-18x10(9)/L, p=0.98). Mean ferritin and ACE concentrations were ...
Source: Blood Cells, Molecules & Diseases - September 28, 2009 Category: Hematology Authors: Piran S, Roberts A, Patterson MA, Amato D Tags: Blood Cells Mol Dis Source Type: journals

Human blood mononuclear cell in vitro cytokine response before and after two different strenuous exercise bouts in the presence of bloodroot and Echinacea extracts.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, the VO(2)max test was associated with enhanced cytokine production whereas the 90-min cycling at 85% VT was associated with suppressed cytokine production. Bloodroot extracts were able to increase cytokine production in both contexts. Herbal extracts purported to offset exercise-associated effects on immune activity warrant continued investigation. PMID: 19766513 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules & Diseases - September 18, 2009 Category: Hematology Authors: Senchina DS, Hallam JE, Dias AS, Perera MA Tags: Blood Cells Mol Dis Source Type: journals

Human CD34(+) cells are capable of generating normal and JAK2V617F positive endothelial like cells in vivo.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this report, the ability of CD34(+) cells to generate ELC in vivo was examined using an immunodeficient mouse transplant assay system. The Philadelphia chromosome negative (Ph(-)) myeloproliferative neoplasms (MPN) are associated with the acquired mutation, JAK2V617F. In order to further examine the ability of cord blood and JAK2V617F positive MPN CD34(+) cells to generate ELC, CD34(+) cells were transplanted into NOD/SCID mice. Cells within the livers and lungs of recipient mice had phenotypic and molecular properties of human ELC as examined using RT-PCR, flow cytometric analysis and fluorescence microscopy. These cel...
Source: Blood Cells, Molecules & Diseases - September 15, 2009 Category: Hematology Authors: Sozer S, Ishii T, Fiel MI, Wang J, Wang X, Zhang W, Godbold J, Xu M, Hoffman R Tags: Blood Cells Mol Dis Source Type: journals

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report the occurrence of type 2 GD (GD2) in four pregnancies in two Jewish families in Israel (in one case the mother was not Ashkenazi but was from a Sfaradi Jewish family) and also review seven additional cases of GD2 in Ashkenazi Jewish families reported in the literature. Phenotypically, GD2 in Ashkenazi Jews does not differ significantly from this form in other ethnic groups. Genotypic analysis of probands from the two Israeli families demonstrates that each carried two heterozygous glucocerebrosidase mutations. We could find no explanation why GD2 is so rare in the Jewish Ashkenazi population but we could hypothes...
Source: Blood Cells, Molecules & Diseases - September 4, 2009 Category: Hematology Authors: Aviner S, Garty BZ, Rachmel A, Baris HN, Sidransky E, Shuffer A, Attias J, Yaniv Y, Cohen IJ Tags: Blood Cells Mol Dis Source Type: journals

TfR2 expression in human colon carcinomas.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Different proteins regulate iron metabolism at the level of various tissues. Among these is a second transferrin receptor (TfR2) that seems to play a key role in the regulation of iron homeostasis. Although TfR2 expression in normal tissues is restricted at the level of the liver, we observed that TfR2 is frequently expressed in cancer cell lines. Taking advantage of this observation we investigated TfR2 expression in primary colon cancers, and showed that this receptor is expressed in about 26% of cases. TfR2 expression in colon cancer is not related to histological grade, but is preferentially associated with mucinou...
Source: Blood Cells, Molecules & Diseases - September 1, 2009 Category: Hematology Authors: Calzolari A, Deaglio S, Maldi E, Cassoni P, Malavasi F, Testa U Tags: Blood Cells Mol Dis Source Type: journals

Statistical clues to postoperative blood loss: Moving averages applied to medical data.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
With the advent of computerized databases, medical data has become easy to accumulate; however, effective use of this data continues to pose significant problems. In other circumstances, smoothing algorithms have been used to uncover non-obvious correlations, trends and relationships in noisy data. We have applied four such algorithms to a large dataset of postoperative blood replacement in cardiopulmonary bypass patients. When applied to this dataset, one of the algorithms proved surprisingly effective. It confirmed several previously observed correlations, and also provided an additional series of counterintuitive an...
Source: Blood Cells, Molecules & Diseases - August 20, 2009 Category: Hematology Authors: Hay KL, Bull BS Tags: Blood Cells Mol Dis Source Type: journals

Postoperative bypass bleeding: A bypass-associated dilutional (BAD) coagulopathy?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A number of associations with post-bypass bleeding have been described in the accompanying paper. Herein we hypothesize that dilution is an underlying cause through a malign series of bypass-associated events. Heparinized blood behaves anomalously when diluted. Clotting times first shorten somewhat, then - as the dilution of whole blood approaches 50% - rapidly lengthen to unclottability. During cardiopulmonary bypass, low blood volume patients are at a significant risk of clotting factor dilution which will always be more severe than the level of whole blood dilution. If severe enough, this dilution may lower plasma c...
Source: Blood Cells, Molecules & Diseases - August 20, 2009 Category: Hematology Authors: Bull BS, Hay KL, Herrmann PC Tags: Blood Cells Mol Dis Source Type: journals

Soluble endothelial adhesion molecules and inflammation markers in patients with beta-thalassemia intermedia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The term thalassemia intermedia, indicates a clinical condition of intermediate severity between thalassaemia minor, the asymptomatic carrier, and thalassaemia major, the transfusion-dependent, severe form. Thromboembolic events frequently complicate the outcome of thalassemia intermedia patients, reflecting a hypercoagulable state to which endothelial activation is believed to play an important role. The aim of this study was to evaluate the levels of soluble endothelial adhesion molecules that reflect endothelial activation and dysfunction and levels of chronic inflammation markers in the serum of beta-thalassemia in...
Source: Blood Cells, Molecules & Diseases - August 3, 2009 Category: Hematology Authors: Kanavaki I, Makrythanasis P, Lazaropoulou C, Tsironi M, Kattamis A, Rombos I, Papasotiriou I Tags: Blood Cells Mol Dis Source Type: journals

Nature of frequent deletions in CEBPA.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we identified in 41 individuals from 824 screened individuals (290 AML patients, 382 MDS patients, 56 NHL patients and 96 healthy individuals) a single class of 23 deletions in CEBPA gene which involved a direct repeat of at least 2 bp. These mutations are characterised by the loss of one of two same repeats at the ends of deleted sequence. Three most frequent repeats included in these deletions in CEBPA gene are CGCGAG (493-498_865-870), GCCAAGCAGC (508-517_907-916) and GG (486-487_885-886), all according to GenBank accession no. NM_004364.2. A mechanism for deletion formation between two repetitive sequence...
Source: Blood Cells, Molecules & Diseases - August 1, 2009 Category: Hematology Authors: Fuchs O, Kostecka A, Provaznikova D, Krasna B, Brezinova J, Filkukova J, Kotlin R, Kouba M, Kobylka P, Neuwirtova R, Jonasova A, Caniga M, Schwarz J, Markova J, Maaloufova J, Sponerova D, Novakova L, Cermak J Tags: Blood Cells Mol Dis Source Type: journals

A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A(-) (68Val>Met, 126Asn>Asp).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report the second documented observation of a rare class-III variant, we named G6PD Pyrgos, [c.383 T>G, p.128Leu>Arg] found in a Greek family. A 3-dimensional structure model for the enzyme shows that the region modified by the substitution is identical to that modified in G6PD A(-) (68Val>Met, 126Asn>Asp), suggesting a common underlying pathophysiological mechanism. Observation of this mutation in different Mediterranean regions suggests that it might be more widespread that initially supposed and, in the absence of molecular characterization, could be confused with other frequent variants. PMID: 196328...
Source: Blood Cells, Molecules & Diseases - July 24, 2009 Category: Hematology Authors: Moradkhani K, Bahuau M, Préhu C, Martin N, Bimet C, Galactéros F, Wajcman H Tags: Blood Cells Mol Dis Source Type: journals

Boundary sequences stabilize transgene expression from subtle position effects in retroviral vectors.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Transgene expression shut-down, attenuation and/or variability from integrated retroviral vectors pose a major obstacle to gene therapy trials involving hematopoietic cells. We have undertaken a systematic assessment of the behavior of different configurations containing IFN-beta SAR and/or 5'HS4 beta-globin insulator sequences within a gammaretroviral vector optimized for high-level expression, focusing on the long-term achievement of stable, homogeneous transgene expression in the successfully transduced cells. Introduction of these cis regulatory elements did not perturb virus production and stability. Conversely, t...
Source: Blood Cells, Molecules & Diseases - July 23, 2009 Category: Hematology Authors: Moreno R, Martinez I, Petriz J, González JR, Gratacós E, Aran JM Tags: Blood Cells Mol Dis Source Type: journals

Molecular characterization of thalassemia intermedia, due to co-inheritance of homozygous alpha triplication and IVSI-5 beta-thalassemia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19577494 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules & Diseases - July 2, 2009 Category: Hematology Authors: Fallah MS, Zadeh-Vakili A, Aleyasin SA, Mahdian R, Karimipour M, Raeisi M, Jamali S, Ebrahimi A, Fooladi P, Naderi M, Baysal E, Zeinali S Tags: Blood Cells Mol Dis Source Type: journals

'Runxs and regulations' of sensory and motor neuron subtype differentiation: implications for hematopoietic development.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Runt-related (RUNX) transcription factors are evolutionarily conserved regulators of a number of developmental mechanisms. RUNX proteins often control the balance between proliferation and differentiation and alterations of their functions are associated with different types of cancer and other human pathologies. Moreover, RUNX factors control important steps during the developmental acquisition of mature phenotypes. A number of investigations are beginning to shed light on the involvement of RUNX family members in the development of the nervous system. This review summarizes recent progress in the study of the roles o...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Stifani S, Ma Q Tags: Blood Cells Mol Dis Source Type: journals

Circulating endothelial cells: a potential parameter of organ damage in sickle cell anemia?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, CECs could prove to be an important new tool for assessing developing vasculopathy and organ damage in SCD. PMID: 19356955 [PubMed - in process]
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Strijbos MH, Landburg PP, Nur E, Teerlink T, Leebeek FW, Rijneveld AW, Biemond BJ, Sleijfer S, Gratama JW, Duits AJ, Schnog JJ, Tags: Blood Cells Mol Dis Source Type: journals

HLA-haploidentical blood and bone marrow transplantation with anti-thymocyte globulin: long-term comparison with HLA-identical sibling transplantation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present an update of our results regarding related HLA-haploidentical and HLA-identical sibling hematopoietic stem cell transplantation (HSCT) in patients with leukemia. We compared the outcomes of 107 patients with leukemia undergoing HLA-identical sibling (n=51) or related HLA-haploidentical (n=56) HSCT performed during the same time period. Patients received BU-CY/CY-TBI in HLA-identical sibling HSCT or TBI+Ara-C+CY+ATG/CCNU+Ara-C+Bu+CY+ATG in haploidentical HSCT as conditioning regimens, followed by unmanipulated marrow and/or peripheral blood (PB) transplantation. All patients achieved full engraftment. The cumulat...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Chen XH, Gao L, Zhang X, Gao L, Zhang C, Kong PY, Liu H, Peng XG, Sun AH, Qi DG, Gong Y, Wang QY Tags: Blood Cells Mol Dis Source Type: journals

Linkage of cytosolic peroxiredoxin 2 to erythrocyte membrane imposed by hydrogen peroxide-induced oxidative stress.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Human erythrocyte peroxiredoxin 2 (Prx2) is a typical 2-cys cytosolic peroxiredoxin with thiol-dependent hydrogen peroxide scavenger activity. In a previous work, we reported Prx2 erythrocyte membrane linkage in some Hereditary Spherocytosis patients and that it seemed to be related to oxidative stress. The aim of the present work was to determine if Prx2 linkage to erythrocyte membrane could be induced by oxidative stress mediated by H(2)O(2) and to further understand how and why this process occurs. We performed in vitro assays in which catalase or both Hb autoxidation and catalase were inhibited, under H(2)O(2)-indu...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Rocha S, Costa E, Coimbra S, Nascimento H, Catarino C, Rocha-Pereira P, Quintanilha A, Belo L, Santos-Silva A Tags: Blood Cells Mol Dis Source Type: journals

Antagonistic interplay between ThPOK and Runx in lineage choice of thymocytes.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Differentiation of CD4(+)CD8(+) double-positive (DP) thymocytes into either CD4(+)-helper or CD8(+)-cytotoxic lineages involves several phases. It has been suggested that, following initial specification to one of the lineages by a set of lineage-specific genes during positive selection, stable cell identity is established during the commitment process by eliminating differentiation potential toward the other lineage. While the Runx3 transcription factor fixes the Cd4 gene into a silenced state during cytotoxic-lineage cell differentiation, the ThPOK transcription factor is both necessary and sufficient to generate a C...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Egawa T, Taniuchi I Tags: Blood Cells Mol Dis Source Type: journals

Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A number of studies have shown altered cytokine levels in serum from Gaucher disease patients, including changes in levels of the anti-inflammatory cytokine, interleukin-10 (IL-10). However, the source of IL-10, or the mechanisms leading to changes in IL-10 serum levels are not known. We now show that mouse macrophages treated with an active site-directed inhibitor of glucocerebrosidase, or macrophages from a mouse model of Gaucher disease, the L444P mouse, release significantly less IL-10 than their untreated counterparts, but that TNFalpha release is unaffected. These changes are due to reduced transcription of IL-10...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Kacher Y, Futerman AH Tags: Blood Cells Mol Dis Source Type: journals

Post-translational modifications of Runx1 regulate its activity in the cell.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this report we review the current knowledge of the interaction of RUNX1(AML1) with serine/threonine kinases, lysine and arginine methyltransferases, lysine acetyltransferases, and histone deacetylases. We also discuss the effect of RUNX1-ETO fusion gene on DNA methylation. RUNX1 post-transcriptional modification can affect its role in influencing differentiation and self-renewal of hematopoietic cells. The goal of these studies is to develop targets for improved leukemia therapy. PMID: 19386523 [PubMed - in process]
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Wang L, Huang G, Zhao X, Hatlen MA, Vu L, Liu F, Nimer SD Tags: Blood Cells Mol Dis Source Type: journals

Glucocerebrosidase gene mutations in black South Africans with Gaucher disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study both GBA mutations were identified in 18/19 black GD patients. Two mutations accounted for 2/3 of all observed disease causing alleles: p.T36del (c.222-224delTAC) (17/38 alleles) and RecNcil (8/38 alleles). Three novel variants were identified and assessed as being likely pathogenic mutations: c.413delC, W357C and D405V. Haplotype analysis supported a single origin for the p.T36del mutation in black South Africans on a haplotype background that is rare in the present population. We hypothesise that the p.T36del results in intracellular mislocalisation of the protein, but confirmation of the altered function o...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Arndt S, Heitner R, Lane A, Ramsay M Tags: Blood Cells Mol Dis Source Type: journals

New experimental and theoretical investigations of hematopoietic stem cells and chronic myeloid leukemia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report on a focused workshop of The Leukemia and Lymphoma Society that was held at Goldsmiths, University of London in 2008. During this workshop we discussed new clinical and experimental data in chronic myeloid leukemia (CML) research, particularly focusing on the validity (or otherwise) of corresponding mathematical models and simulations. We were specifically interested in whether the models could shed light on any of the fundamental mechanisms underlying this disease. Moreover, we were aiming to form a new community of clinicians and modelers looking at this disease and to define a common language and theoretical f...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Roeder I, d'Inverno M, Tags: Blood Cells Mol Dis Source Type: journals

Gaucher disease and monoclonal gammopathy: a report of 17 cases and impact of therapy.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19427246 [PubMed - in process]
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Grosbois B, Rose C, Noël E, Serratrice Cde R, Dobbelaere D, Gressin V, Chérin P, Hartmann A, Javier RM, Clerson P, Hachulla E, Jaussaud R, Tags: Blood Cells Mol Dis Source Type: journals

RUNX factors in development: lessons from invertebrate model systems.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Runt-related (RUNX) transcription factors are evolutionarily conserved regulators of cell proliferation, differentiation and stem cell maintenance. They are critical for the correct development and function of a variety of human tissues, including during haematopoiesis. RUNX genes regulate various aspects of proliferation control, stem cell maintenance, lineage commitment and regulation of differentiation; disruptions in the correct function of RUNX genes have been associated with human pathologies, most prominently cancer. Because of the high context dependency and partial redundancy of vertebrate RUNX genes, inverteb...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Braun T, Woollard A Tags: Blood Cells Mol Dis Source Type: journals

Alternative Runx1 promoter usage in mouse developmental hematopoiesis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The interest in stem cell based therapies has emphasized the importance of understanding the cellular and molecular mechanisms by which stem cells are generated in ontogeny and maintained throughout adult life. Hematopoietic stem cells (HSCs) are first found in clusters of hematopoietic cells budding from the luminal wall of the major arteries in the developing mammalian embryo. The transcription factor Runx1 is critical for their generation and is specifically expressed at sites of HSC generation, prior to their formation. To understand better the transcriptional hierarchies that converge on Runx1 during HSC emergence...
Source: Blood Cells, Molecules & Diseases - June 27, 2009 Category: Hematology Authors: Bee T, Liddiard K, Swiers G, Bickley SR, Vink CS, Jarratt A, Hughes JR, Medvinsky A, de Bruijn MF Tags: Blood Cells Mol Dis Source Type: journals

Not all DMT1 mutations lead to iron overload.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
DMT1 is a membrane-bound divalent metal transporter, which co-transports protons and (Fe(2+)) from an acidic microenvironment (endosome, duodenal lumen) to the cell cytosol. Results from animal models and from patients have shown that DMT1 is required for intestinal iron absorption and iron acquisition by erythrocytes. Only three human patients with DMT1 mutations have been described so far. They presented with hypochromic microcytic anemia and heavy liver iron overload, even at a very young age. Here, we report the fourth human case, a 7-year old boy with a new homozygous DMT1 mutation, microcytic anemia but no liver ...
Source: Blood Cells, Molecules & Diseases - June 22, 2009 Category: Hematology Authors: Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C Tags: Blood Cells Mol Dis Source Type: journals

Gaucher disease in Tunisia: High frequency of the most common mutations.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19553144 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules & Diseases - June 22, 2009 Category: Hematology Authors: Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Kefi R, Messai H, Amaral O, Miranda MC, Caillaud C, Tebib N, Ben Dridi MF, Abdelhak S Tags: Blood Cells Mol Dis Source Type: journals

Interethnic differences of CYP2C9 alleles in healthy Hungarian and Roma population samples: Relationship to worldwide allelic frequencies.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CYP2C9 gene polymorphisms are widely studied in several ethnic groups, however they are less known in the Roma population. The aim of this work was to study the ethnic differences of the CYP2C9 allele distribution in a healthy Roma population in order to compare them with a healthy Hungarian population. A total of 535 Hungarian and 465 Roma volunteers were genotyped for the CYP2C92 (Arg144Cys) and CYP2C93 (Ile359Leu) allelic variants by PCR-RFLP assay. The frequencies of the CYP2C91, 2 and 3 alleles in the Hungarian population were 0.787, 0.125, and 0.088 and in Roma 0.727, 0.118, and 0.155, respectively. We found a si...
Source: Blood Cells, Molecules & Diseases - June 19, 2009 Category: Hematology Authors: Sipeky C, Lakner L, Szabo M, Takacs I, Tamasi V, Polgar N, Falus A, Melegh B Tags: Blood Cells Mol Dis Source Type: journals

The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: On the basis of this review, GD may have an impact on reproductive events in affected women. Enzyme therapy may have benefits in reducing menorrhagia, spontaneous abortions and complications associated with delivery and the postpartum period. PMID: 19502088 [PubMed - as supplied by publisher]
Source: Blood Cells, Molecules & Diseases - June 5, 2009 Category: Hematology Authors: Zimran A, Morris E, Mengel E, Kaplan P, Belmatoug N, Hughes DA, Malinova V, Heitner R, Sobreira E, Mrsić M, Granovsky-Grisaru S, Amato D, Vom Dahl S Tags: Blood Cells Mol Dis Source Type: journals

In vitro binding of HFE to the cation-independent mannose-6 phosphate receptor.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Hereditary hemochromatosis is most frequently associated with mutations in HFE, which encodes a class Ib histocompatibility protein. HFE binds to the transferrin receptor-1 (TfR1) in competition with iron-loaded transferrin (Fe-Tf). HFE is released from TfR1 by increasing concentrations of Fe-Tf, and free HFE may then regulate iron homeostasis by binding other ligands. To search for new HFE ligands we expressed recombinant forms of HFE in the human cell line 293T. HFE protein was purified, biotinylated and made into fluorescently labelled tetramers. HFE tetramers bound to TfR1 in competition with Tf, but in addition we...
Source: Blood Cells, Molecules & Diseases - May 30, 2009 Category: Hematology Authors: Schimanski LM, Drakesmith H, Sweetland E, Bastin J, Rezgui D, Edelmann M, Kessler B, Merryweather-Clarke AT, Robson KJ, Townsend AR Tags: Blood Cells Mol Dis Source Type: journals

Genetic adaptation to extreme hypoxia: Study of high-altitude pulmonary edema in a three-generation Han Chinese family.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Organismal response to hypoxia is essential for critical regulation of erythropoiesis, other physiological functions, and survival. There is evidence of individual variation in response to hypoxia as some but not all of the affected individuals develop polycythemia, and or pulmonary and cerebral edema. A significant population difference in response to hypoxia exist as many highland Tibetan, Ethiopian, and Andean natives developed adaptive mechanisms to extreme hypoxia. A proportion of non-adapted individuals exposed to high altitude develop pulmonary edema (HAPE), pulmonary hypertension, cerebral edema, and extreme po...
Source: Blood Cells, Molecules & Diseases - May 27, 2009 Category: Hematology Authors: Lorenzo V F, Yang Y, Simonson TS, Nussenzveig R, Jorde LB, Prchal JT, Ge RL Tags: Blood Cells Mol Dis Source Type: journals

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
On admission to hospital Caucasian 61 year old male with jaundice was found to have unexplained increased serum iron indices. He had bilateral peripheral arthritis. On further investigation he had grade II hepatocellular iron staining and a hepatic index of 5.4 leading to a diagnosis of hereditary hemochromatosis. He lacked the common C282Y HFE mutation. We sequenced the complete HFE gene and found that he was heterozygous for a novel single nucleotide deletion (c.del478) in exon 3 of HFE. He lacks any other mutation in HFE or HJV, TFR2, HAMP and SLC40A1. The HFE mutation causes a frameshift (p.P160fs) that introduces ...
Source: Blood Cells, Molecules & Diseases - May 22, 2009 Category: Hematology Authors: Pointon JJ, Lok CY, Shearman JD, Suckling RJ, Rochette J, Merryweather-Clarke AT, Robson KJ Tags: Blood Cells Mol Dis Source Type: journals

Enhanced expression of STIM1/Orai1 and TRPC3 in platelets from patients with type 2 diabetes mellitus.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Type 2 diabetes mellitus (DM2) is a metabolic syndrome that contributes to both macrovascular and microvascular disorders, where platelet hyperaggregability, associated to abnormal intracellular Ca(2+) homeostasis, plays an important role. We have now investigated the expression of different proteins associated to Ca(2+) entry, a major Ca(2+) signalling event. DM2 donors were randomly selected from normotensive patients with glycosylated Hb levels (HbA1c) over 6%. Control subjects were normal age- and gender-matched healthy people with HbA1c levels in the normal range (3.5-5%). Expression of TRPC1, 3 and 6, STIM1 and O...
Source: Blood Cells, Molecules & Diseases - May 15, 2009 Category: Hematology Authors: Zbidi H, López JJ, Amor NB, Bartegi A, Salido GM, Rosado JA Tags: Blood Cells Mol Dis Source Type: journals

Indian hedgehog supports definitive erythropoiesis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we studied the consequences of loss of function of Ihh for murine haematopoietic development. Ihh has no essential role in primitive erythropoiesis, but it is required in a non cell autonomous fashion for definitive erythropoieisis. Many components of the hedgehog signaling pathway are present in the fetal liver, with Ihh and Gli1 being most highly expressed in the stroma and Ptc1 being most highly expressed in haematopoietic stem and progenitor cells. Ihh knockout HSC and progenitor cell populations are produced in normal numbers in vivo and respond normally to haematopoietic cytokines in vitro, but terminal...
Source: Blood Cells, Molecules & Diseases - May 12, 2009 Category: Hematology Authors: Cridland SO, Keys JR, Papathanasiou P, Perkins AC Tags: Blood Cells Mol Dis Source Type: journals

Microarray analysis of prothrombin knockdown in zebrafish.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The serine protease thrombin is generated from its precursor, prothrombin, in the coagulation cascade and plays a central role in fibrin deposition and platelet activation mediated through the protease activated receptors. Knockdown of prothrombin in the zebrafish was previously shown to recapitulate the phenotype observed in prothrombin knockout mice, such as an absence of blood pericardial edema, and hemorrhage. However, the role of thrombin during embryogenesis is not fully understood. To find genes affected by potential thrombin signaling in embryogenesis before blood circulation, microarray analysis was performed ...
Source: Blood Cells, Molecules & Diseases - May 11, 2009 Category: Hematology Authors: Day KR, Jagadeeswaran P Tags: Blood Cells Mol Dis Source Type: journals

Activation and inactivation of the iron hormone hepcidin: Biochemical characterization of prohepcidin cleavage and sequential degradation to N-terminally truncated hepcidin isoforms.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The hormone hepcidin is produced mainly in the liver in response to iron loading and inflammation and secreted into the circulation as a 25-amino acid peptide. The 84-amino acid prohormone undergoes limited proteolytic cleavage at a conserved proprotein convertase (PC) recognition site. In addition to the 25-amino acid hepcidin, N-terminally truncated isoforms of lower biological activity are found in plasma and urine. Here we show that a redundant system of proprotein convertases cleaves prohepcidin at the predicted site releasing active hepcidin-25 from the proprotein. In addition to furin mediated cleavage of prohep...
Source: Blood Cells, Molecules & Diseases - May 5, 2009 Category: Hematology Authors: Schranz M, Bakry R, Creus M, Bonn G, Vogel W, Zoller H Tags: Blood Cells Mol Dis Source Type: journals

Retraction notice to "The retinoic acid receptor/CaMKII interaction: Pharmacologic inhibition of CaMKII enhances the differentiation of myeloid leukemia cells" [Blood Cells Mol. Dis. 39 (2007) 307-315].Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19388154 [PubMed - in process]
Source: Blood Cells, Molecules & Diseases - May 1, 2009 Category: Hematology Authors: Si J, Mueller L, Schuler A, Simon J, Collins SJ Tags: Blood Cells Mol Dis Source Type: journals

Chemical crosslinking studies with the mouse Kcc1 K-Cl cotransporter.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Oligomerization, function, and regulation of unmodified mouse Kcc1 K-Cl cotransporter were studied by chemical crosslinking. Treatment of Xenopus oocytes and 293T cells expressing K-Cl cotransporter Kcc1 with several types of chemical cross-linkers shifted Kcc1 polypeptide to higher molecular weight forms. More extensive studies were performed with the amine-reactive disuccinyl suberate (DSS) and with the sulfhydryl-reactive bis-maleimidohexane (BMH). Kcc1 cross-linking was time-dependent in intact oocytes, and was independent of protein concentration in detergent lysates from oocytes or 293T cells. Kcc1 cross-linking ...
Source: Blood Cells, Molecules & Diseases - May 1, 2009 Category: Hematology Authors: Casula S, Zolotarev AS, Stuart-Tilley AK, Wilhelm S, Shmukler BE, Brugnara C, Alper SL Tags: Blood Cells Mol Dis Source Type: journals

Hematologic characterization and chromosomal localization of the novel dominantly inherited mouse hemolytic anemia, neonatal anemia (Nan).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
One of the most commonly inherited anemias in man is Hereditary Spherocytosis (HS) with an incidence of 1 in 2000 for persons of Northern European descent. Mouse models of HS include spontaneous inherited hemolytic anemias and those generated by gene targeting. The Neonatal anemia (Nan) mouse is a novel model of HS generated by N-ethyl-N-nitrosurea mutagenesis and suffers from a severe neonatal anemia. Adult Nan mice have a lifelong hemolytic anemia with decreased red blood cell numbers, hematocrit, and hemoglobin, but elevated zinc protoporphyrin levels. Blood smears taken from Nan mice show a hypochromic anemia chara...
Source: Blood Cells, Molecules & Diseases - April 29, 2009 Category: Hematology Authors: White RA, Sokolovsky IV, Britt MI, Nsumu NN, Logsdon DP, McNulty SG, Wilmes LA, Brewer BP, Wirtz E, Joyce HR, Fegley B, Smith A, Heruth DP Tags: Blood Cells Mol Dis Source Type: journals

Serum transferrin receptors: Distribution and diagnostic performance in pre-school children.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Soluble transferrin receptors have gained interest in the field of diagnosing anemias. Reference ranges differ according to the method used for the quantification of sTfR. We aim to explore the distributional properties and diagnostic performance of sTfR in pre-school healthy children as well as in children with beta-thalassemia carriers, iron deficiency with normal hematological phenotype (ID) and iron deficiency anemia (IDA). Circulating sTfR as well as biochemical and hematological indices were determined in 521 pre-school children and four groups (normal children, beta-thalassemia traits, ID and IDA) were formed. D...
Source: Blood Cells, Molecules & Diseases - April 23, 2009 Category: Hematology Authors: Chouliaras GL, Premetis E, Tsiftis G, Drosatou P, Papassotiriou I, Stamoulakatou A, Lycopoulou L Tags: Blood Cells Mol Dis Source Type: journals

Differences in response to fetal hemoglobin induction therapy in beta-thalassemia and sickle cell disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Inducers of fetal hemoglobin (HbF) have shown considerable promise in the treatment of sickle cell disease (SCD). However, the same agents have shown less clinical activity in beta-thalassemia (beta-Thal). To understand the basis of these differences in clinical effectiveness, we compared the effects of butyrate and hemin on the expression of the different globin genes in progenitors-derived erythroid cells from patients with beta-Thal intermedia and SCD. Exposure to butyrate resulted in an augmentation of gamma-globin mRNA levels in both SCD and beta-Thal. Interestingly, butyrate exposure increased alpha-globin expres...
Source: Blood Cells, Molecules & Diseases - April 3, 2009 Category: Hematology Authors: Fathallah H, Taher A, Bazarbachi A, Atweh GF Tags: Blood Cells Mol Dis Source Type: journals

Identification of gene networks associated with erythroid differentiation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Erythropoiesis is a multistep process involving a large number of genes, which balance between proliferation, differentiation and survival of the erythroid cells. To understand the molecular mechanisms of erythropoiesis and related pathological aberrations, we analyzed three stages of in vitro differentiating human erythroid cells by expression profiling. We identified distinct clusters of genes, each with a unique expression pattern during differentiation. As JAK2 was shown to play a central role in myeloproliferative disorders, we focused on one cluster which includes JAK2 and other genes with high correlation to JAK...
Source: Blood Cells, Molecules & Diseases - March 27, 2009 Category: Hematology Authors: Peller S, Tabach Y, Rotschild M, Garach-Joshua O, Cohen Y, Goldfinger N, Rotter V Tags: Blood Cells Mol Dis Source Type: journals

Spatial analysis of erythrocyte membrane fluctuations by digital holographic microscopy.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present a spatial analysis of red blood cell membrane fluctuations by using digital holographic microscopy (DHM). This interferometric and dye-free technique, possessing nanometric axial and microsecond temporal sensitivities enables to measure cell membrane fluctuations (CMF) on the whole cell surface. DHM acquisition is combined with a model which allows extracting the membrane fluctuation amplitude, while taking into account cell membrane topology. Uneven distribution of CMF amplitudes over the RBC surface is observed, showing maximal values in a ring corresponding to the highest points on the RBC torus as well as in...
Source: Blood Cells, Molecules & Diseases - March 24, 2009 Category: Hematology Authors: Rappaz B, Barbul A, Hoffmann A, Boss D, Korenstein R, Depeursinge C, Magistretti PJ, Marquet P Tags: Blood Cells Mol Dis Source Type: journals

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