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Blood Cells, Molecules & Diseases

Xiaotang Hu
Since 2012, the CRISPR-Cas9 system has been quickly and successfully tested in a broad range of organisms and cells including hematopoietic cells. The application of CRISPR-Cas9 in human hematopoietic cells mainly involves the genes responsible for HIV infection, β-thalassemia and sickle cell disease (SCD). The successful disruption of CCR5 and CXCR4 genes in T cells by CRISPR-Cas9 promotes the prospect of the technology in the functional cure of HIV. More recently, eliminating CCR5 and CXCR4 in induced pluripotent stem cells (iPSCs) derived from patients and targeting the HIV genome have been successfully carried out in several laboratories...
October 2, 2016: Blood Cells, Molecules & Diseases
Marija Kocic, Slavisa M Djuricic, Maja Djordjevic, Djordje Savic, Bozica Kecman, Adrijan Sarajlija
Almost any anatomical compartment may be involved in Gaucher disease (GD). Abdominal lymphadenopathy occurred during enzyme replacement therapy in more than a dozen children with GD so far. A fourteen-year-old boy from Serbia developed clinical signs of acute appendicitis six years after the onset of GD type 3 related abdominal lymphadenopathy. Ultrasound examination showed diffuse thickening of the intestinal wall in the ileocoecal region with periappendicular infiltration. An appendectomy was performed four months after conservative treatment with antibiotics...
September 30, 2016: Blood Cells, Molecules & Diseases
Valentina Brancaleoni, Francesca Granata, Alessandra Colancecco, Dario Tavazzi, Maria Domenica Cappellini, Elena Di Pierro
No abstract text is available yet for this article.
September 29, 2016: Blood Cells, Molecules & Diseases
Jing-Ying Zhang, Ming Jia, Hai-Zhao Zhao, Ze-Bin Luo, Wei-Qun Xu, He-Ping Shen, Yong-Min Tang
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Ribosomal protein S19 (RPS19) is identified as the first gene associated with DBA. RPS19 is mutated in 25% of DBA patients, but its role in DBA pathogenesis remains to be elucidated. We have identified a novel heterozygous frameshift mutation in RPS19 gene in a DBA child presenting with profound anemia after birth. A single nucleotide heterozygous deletion (C.251delG) results in frameshift in RPS19 gene in exon 4 at codon 84 with possible premature stop codon (p...
August 31, 2016: Blood Cells, Molecules & Diseases
Alaa M Ali, Armin Rashidi, John F DiPersio
No abstract text is available yet for this article.
August 31, 2016: Blood Cells, Molecules & Diseases
Germana Castelli, Isabella Parolini, Anna Maria Cerio, Agnese D'Angiò, Luca Pasquini, Maria Carollo, Massimo Sargiacomo, Ugo Testa, Elvira Pelosi
Circulating endothelial progenitor cells (EPCs) have been suggested as a precious source for generating functionally competent endothelial cells (ECs), candidate for various clinical applications. However, the paucity of these progenitor cells and the technical difficulties for their in vitro growth represent a main limitation to their use. In the present study we hypothesized that the paracrine effects of human umbilical vein endothelial cells (HUVECs) may improve endothelial cell generation from cord blood (CB) EPCs...
October 2016: Blood Cells, Molecules & Diseases
Marshall A Lichtman
No abstract text is available yet for this article.
October 2016: Blood Cells, Molecules & Diseases
Valeria Fiorentino, Valentina Brancaleoni, Francesca Granata, Giovanna Graziadei, Elena Di Pierro
The PPOX gene encodes for the protoporphyrinogen oxidase, which is involved in heme production. The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria. The tissue-specific regulation of other heme biosynthetic enzymes is extensively studied, but the information concerning transcriptional and post-transcriptional regulation of PPOX gene expression is scarcely available. In this study, we characterized functions of three variants identified in the regulatory regions of the PPOX gene, which show a novel role for the 5' untranslated exon 1...
October 2016: Blood Cells, Molecules & Diseases
Anupama Narla, Daniel Yuan, Shideh Kazerounian, Corinne LaVasseur, Jacob C Ulirsch, Jyothsna Narla, Bertil Glader, Vijay G Sankaran, Hanna Gazda
No abstract text is available yet for this article.
October 2016: Blood Cells, Molecules & Diseases
Kosha Mehta, Mark Busbridge, Derek Renshaw, Robert W Evans, Sebastien Farnaud, Vinood B Patel
Hepcidin is the key regulator of systemic iron homeostasis. The iron-sensing mechanisms and the role of intracellular iron in modulating hepatic hepcidin secretion are unclear. Therefore, we created a novel cell line, recombinant-TfR1 HepG2, expressing iron-response-element-independent TFRC mRNA to promote cellular iron-overload and examined the effect of excess holotransferrin (5g/L) on cell-surface TfR1, iron content, hepcidin secretion and mRNA expressions of TFRC, HAMP, SLC40A1, HFE and TFR2. Results showed that the recombinant cells exceeded levels of cell-surface TfR1 in wild-type cells under basal (2...
October 2016: Blood Cells, Molecules & Diseases
Xin Yao, Chengrong Li, Jun Yang, Guobing Wang, Changgang Li, Yu Xia
OBJECTIVE: This study aims to investigate the role of T follicular helper (TFH) cells in the immunopathogenesis of pediatric immune thrombocytopenia (ITP), as well as differences in TFH expansion and its regulation between newly diagnosed ITP (nITP) and chronic pediatric ITP (cITP). METHODS: Eighty-five children with ITP and 20 age-matched healthy controls were enrolled into this study. TFH cell frequencies and TFH cell-associated regulatory factors before and after treatment were analyzed by flow cytometry, RT-PCR and ELISA...
October 2016: Blood Cells, Molecules & Diseases
Rafiou Agoro, Catherine Mura
Iron is essential in all organisms. In mammals systemic iron homeostasis relies on hepcidin, a peptide hormone with defensin properties, and its target, the cell iron exporter ferroportin. Hepcidin and ferroportin transcription are both upregulated by high iron levels, but are inversely regulated upon inflammation, leading to hypoferremia. Thus, host iron genes regulation may affect the innate immune responses against infectious microorganisms. Since macrophages, which are crucial innate immune cells, express both hepcidin and ferroportin, we explored in these cells their transcriptional regulation upon inflammation which is not completely understood...
October 2016: Blood Cells, Molecules & Diseases
Ricardo Faria, Bruno Silva, Catarina Silva, Pedro Loureiro, Ana Queiroz, Sofia Fraga, Jorge Esteves, Diana Mendes, Rita Fleming, Luís Vieira, João Gonçalves, Paula Faustino
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients...
October 2016: Blood Cells, Molecules & Diseases
Omar Niss, Satheesh Chonat, Neha Dagaonkar, Marya O Almansoori, Karol Kerr, Zora R Rogers, Patrick T McGann, Maa-Ohui Quarmyne, Mary Risinger, Kejian Zhang, Theodosia A Kalfa
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. The clinical diagnosis of HE and HPP relies on identifying characteristic RBC morphology on peripheral blood smear and specific membrane biomechanical properties using osmotic gradient ektacytometry...
October 2016: Blood Cells, Molecules & Diseases
Maddalena Martella, Nadia Quaglia, Anna Chiara Frigo, Giuseppe Basso, Raffaella Colombatti, Laura Sainati
No abstract text is available yet for this article.
October 2016: Blood Cells, Molecules & Diseases
N Scott Reading, Mahmoud M Sirdah, Mohammad E Shubair, Benjamin E Nelson, Mustafa S Al-Kahlout, Jamal M Al-Tayeb, Lina N Aboud, Maysaa Abu Shaban, Lucio Luzzatto, Josef T Prchal
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic abnormality known to predispose to acute hemolytic anemia (AHA), which can be triggered by certain drugs or infection. However, the commonest trigger is fava beans (Vicia faba) ingestion, causing AHA (favism), which may be life-threatening especially in children. G6PD deficiency is genetically highly heterogeneous, as nearly 200 different mutations have been observed. We have investigated the hematological features of acute favism in the Palestinian Gaza community that is characterized by the polymorphic coexistence of three different G6PD deficiency genes (G6PD A-, G6PD Cairo, G6PD Med)...
September 2016: Blood Cells, Molecules & Diseases
Martine Regenboog, Anneloes E Bohte, Inne Somers, Otto M van Delden, Mario Maas, Carla E M Hollak
In Gaucher disease (GD) imaging of liver and spleen is part of routine follow-up of GD patients. Focal lesions in both liver and spleen are frequently reported at radiological examinations. These lesions often represent benign accumulations of Gaucher cells, so-called "gaucheroma", but malignancies, especially hepatocellular carcinoma, are more frequently found in GD as well. We report the imaging characteristics of all focal lesions in liver and spleen in the Dutch GD cohort. Of the 95 GD1 patients, 40% had focal splenic and/or hepatic lesions, associated with more severe GD...
September 2016: Blood Cells, Molecules & Diseases
Mingyi Chen, Hong Qiu, Xin Lin, David Nam, Lucy Ogbu-Nwobodo, Hannah Archibald, Amelia Joslin, Ted Wun, Tatsuya Sawamura, Ralph Green
Lectin-like oxidized low-density lipoprotein (LDL) receptor-1 (LOX-1) is an endothelial receptor for oxidized LDL. Increased expression of LOX-1 has been demonstrated in atherosclerotic lesions and diabetic vasculopathy. In this study, we investigate the expression of LOX-1 receptor in sickle cell disease (SCD) vasculopathy. Expression of LOX-1 in brain vascular endothelium is markedly increased and LOX-1 gene expression is upregulated in cultured human brain microvascular endothelial cells by incubation with SCD erythrocytes...
September 2016: Blood Cells, Molecules & Diseases
Bonnie Patchen, Tiago Koppe, Aaron Cheng, Young Ah Seo, Marianne Wessling-Resnick, Paula G Fraenkel
Hepcidin, a peptide produced in the liver, decreases intestinal iron absorption and macrophage iron release by causing degradation of the iron exporter, ferroportin. Because its levels are inappropriately low in patients with iron overload syndromes, hepcidin is a potential drug target. We previously conducted a chemical screen that revealed ipriflavone, an orally available small molecule, as a potent inducer of hepcidin expression. To evaluate ipriflavone's effect on iron homeostasis, we placed groups of 5-week old wild type or thalassemia intermedia (Hbb(Th3+/-)) mice on a soy-free, iron-sufficient diet, AIN-93G containing 220mg iron and 0-750mgipriflavone/kg of food for 50days...
September 2016: Blood Cells, Molecules & Diseases
Antonella Minelli, Lucia Nacci, Roberto Valli, Giampiero Pietrocola, Ugo Ramenghi, Franco Locatelli, Letizia Brescia, Elena Nicolis, Marco Cipolli, Cesare Danesino
No abstract text is available yet for this article.
September 2016: Blood Cells, Molecules & Diseases
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