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Erythropoiesis

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https://www.readbyqxmd.com/read/28550182/recessive-grey-platelet-like-syndrome-with-unaffected-erythropoiesis-in-the-absence-of-the-splice-isoform-gfi1b-p37
#1
Harald Schulze, Axel Schlagenhauf, Georgi Manukjan, Christine Beham-Schmid, Oliver Andres, Eva Klopocki, Eva-Maria König, Harald Haidl, Simon Panzer, Karina Althaus, Wolfgang E Muntean, Wolfgang Schwinger, Christian Urban, Andreas Greinacher, Tamam Bakchoul, Markus G Seidel
No abstract text is available yet for this article.
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28548390/a-step-towards-removing-plasma-volume-variance-from-the-athlete-s-biological-passport-the-use-of-biomarkers-to-describe-vascular-volumes-from-a-simple-blood-test
#2
Louisa M Lobigs, Pierre-Edouard Sottas, Pitre C Bourdon, Zoran Nikolovski, Mohamed El-Gingo, Evdokia Varamenti, Peter Peeling, Brian Dawson, Yorck O Schumacher
The haematological module of the Athlete's Biological Passport (ABP) has significantly impacted the prevalence of blood manipulations in elite sports. However, the ABP relies on a number of concentration-based markers of erythropoiesis, such as haemoglobin concentration ([Hb]), which are influenced by shifts in plasma volume (PV). Fluctuations in PV contribute to the majority of biological variance associated with volumetric ABP markers. Our laboratory recently identified a panel of common chemistry markers (from a simple blood test) capable of describing ~67% of PV variance, presenting an applicable method to account for volume shifts within antidoping practices...
May 26, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28546302/considerations-and-controversies-in-managing-chronic-kidney-disease-an-update
#3
REVIEW
Lalita Prasad-Reddy, Diana Isaacs, Alexander Kantorovich
PURPOSE: Current considerations and controversies surrounding the management of chronic kidney disease (CKD) are reviewed. SUMMARY: Patients diagnosed with CKD require a unique clinical approach to prevent medication toxicities and ensure appropriate management of disease-progressing comorbidities, and they require attention to commonly occurring complications that may affect disease control and impact quality of life, including anemia and CKD-bone-mineral disorder (CKD-BMD)...
June 1, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28545085/splicing-factor-sf3b1k700e-mutant-dysregulates-erythroid-differentiation-via-aberrant-alternative-splicing-of-transcription-factor-tal1
#4
Shuiling Jin, Hairui Su, Ngoc-Tung Tran, Jing Song, Sydney S Lu, Ying Li, Suming Huang, Omar Abdel-Wahab, Yanyan Liu, Xinyang Zhao
More than 60% of myeloid dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a subtype of MDS. SF3B1K700E is the most frequently mutated site among mutations on SF3B1. Yet the molecular mechanisms on how mutations of splicing factors lead to defective erythropoiesis are not clear. SF3B1K700E mutant binds to an RNA binding protein, RBM15, stronger than the wild type SF3B1 protein in co-immunoprecipitation assays...
2017: PloS One
https://www.readbyqxmd.com/read/28542880/suicidal-death-of-erythrocytes-in-cancer-and-its-chemotherapy-a-potential-target-in-the-treatment-of-tumor-associated-anemia
#5
REVIEW
Elisabeth Lang, Rosi Bissinger, Syed M Qadri, Florian Lang
In analogy to apoptosis of nucleated cells, erythrocytes may enter eryptosis characterized by cell shrinkage and cell membrane scrambling. Eryptotic erythrocytes are rapidly cleared from circulating blood and may adhere to the vascular wall. Stimulation of eryptosis thus impairs microcirculation and leads to anemia as soon as the loss of erythrocytes cannot be fully compensated by enhanced erythropoiesis. Signaling stimulating eryptosis includes increase of cytosolic Ca(2+) -activity, ceramide, caspases, calpain, p38-kinase, protein-kinase C, Janus-activated kinase 3, casein-kinase 1α, and cyclin-dependent kinase 4...
May 23, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28540737/investigational-drugs-in-phase-i-and-phase-ii-clinical-trials-for-thalassemia
#6
Irene Motta, Natalia Scaramellini, Maria Domenica Cappellini
Regular transfusion and iron chelation are the current treatment of severe forms of thalassemia. As a result of this demanding supportive treatment, there are several unmet therapeutic needs. Due to a deeper understanding in the pathophysiology of thalassemia, new therapeutic strategies have been developed that are now in pre-clinical and clinical trials. Areas covered: Activin receptor ligand traps (luspatercept and sotatercept), drugs targeting ineffective erythropoiesis, showed encouraging results in Phase I and II clinical trials...
May 25, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28540293/altered-erythropoiesis-in-mouse-models-of-type-3-hemochromatosis
#7
R M Pellegrino, F Riondato, L Ferbo, M Boero, A Palmieri, L Osella, P Pollicino, B Miniscalco, G Saglio, A Roetto
Type 3 haemochromatosis (HFE3) is a rare genetic iron overload disease which ultimately lead to compromised organs functioning. HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2α and Tfr2β). Tfr2α is one of the hepatic regulators of iron inhibitor hepcidin. Tfr2β is an intracellular isoform of the protein involved in the regulation of iron levels in reticuloendothelial cells. It has been recently demonstrated that Tfr2 is also involved in erythropoiesis...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28533511/cd47-surface-stability-is-sensitive-to-actin-disruption-prior-to-inclusion-within-the-band-3-macrocomplex
#8
Kathryn E Mordue, Bethan R Hawley, Timothy J Satchwell, Ashley M Toye
CD47 is an important 'marker of self' protein with multiple isoforms produced though alternative splicing that exhibit tissue-specific expression. Mature erythrocytes express CD47 isoform 2 only, with membrane stability of this version dependent on inclusion within the band 3 macrocomplex, via protein 4.2. At present a paucity of information exists regarding the associations and trafficking of the CD47 isoforms during erythropoiesis. We show that CD47 isoform 2 is the predominant version maintained at the surface of expanding and terminally differentiating erythroblasts...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526957/cytomorphology-review-of-100-newly-diagnosed-lower-risk-mds-patients-in-the-european-leukemianet-mds-eumds-registry-reveals-a-high-inter-observer-concordance
#9
Louise de Swart, Alex Smith, Marius MacKenzie, Argiris Symeonidis, Judith Neukirchen, Dana Mikulenková, Teresa Vallespí, Gina Zini, Malgorzata Paszkowska-Kowalewska, Anton Kruger, Leonie Saft, Pierre Fenaux, David Bowen, Eva Hellström-Lindberg, Jaroslav Čermák, Reinhard Stauder, Aurelia Tatic, Mette Skov Holm, Luca Malcovati, Krzysztof Mądry, Jackie Droste, Nicole Blijlevens, Theo de Witte, Ulrich Germing
The European LeukemiaNet MDS (EUMDS) registry is collecting data of myelodysplastic syndrome (MDS) patients belonging to the IPSS low or intermediate-1 category, newly diagnosed by local cytologists. The diagnosis of MDS can be challenging, and some data report inter-observer variability with regard to the assessment of the MDS subtype. In order to ensure that correct diagnoses were made by the participating centres, blood and bone marrow slides of 10% of the first 1000 patients were reviewed by an 11-person panel of cytomorphologists...
May 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28522758/regulation-of-erythropoiesis-after-normoxic-return-from-chronic-sustained-and-intermittent-hypoxia
#10
Jihyun Song, Krishna Sundar, Radhika Gangaraju, Josef T Prchal
Hypoxia increases erythropoiesis mediated by hypoxia-inducible transcription factors (HIF) which regulate erythropoietin (EPO) transcription. Neocytolysis is a physiological mechanism that corrects polycythemia from chronic sustained hypoxemia (CSH) by transient, preferential destruction of young RBCs after normoxia is restored. We showed that neocytolysis is caused by excessive mitochondrial-derived reactive oxygen species (ROS) in reticulocytes mediated by down-regulation of HIF-controlled BNIP3L regulated mitophagy and a decrease in RBC antioxidant catalase (CAT) in hypoxia-produced erythrocytes...
May 18, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28514729/meglitinides-increase-the-risk-of-hypoglycemia-in-diabetic-patients-with-advanced-chronic-kidney-disease-a-nationwide-population-based-study
#11
Pei-Chen Wu, Vin-Cent Wu, Cheng-Jui Lin, Chi-Feng Pan, Chih-Yang Chen, Tao-Min Huang, Che-Hsiung Wu, Likwang Chen, Chih-Jen Wu
The safety of short-acting meglitinides in diabetic patients with advanced chronic kidney disease (CKD) has not been widely reported.Diabetic patients with advanced CKD who had a serum creatinine level of > 6 mg/dL a hematocrit level of ≦ 28% and received erythropoiesis-stimulating agent treatment between 2000 and 2010, were included in this nationwide study in Taiwan.The outcomes of interest were defined as hypoglycemia and long-term mortality. The risks of hypoglycemia and death were analyzed using Cox proportional hazards models, with end-stage renal disease and anti-diabetic drugs as time-dependent variables...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28510276/canine-reticulocyte-hemoglobin-content-ret-he-in-different-types-of-iron-deficient-erythropoiesis
#12
Jannika Fuchs, Andreas Moritz, Esther Grußendorf, Jörg Lechner, Felix Neuerer, Rafael Nickel, Thomas Rieker, Claudia Schwedes, Dennis B DeNicola, James Russell, Natali Bauer
BACKGROUND: Reticulocyte hemoglobin content (RET-He) is a diagnostic marker for iron deficiency (ID) in people and dogs. OBJECTIVES: The aim of our study was to evaluate the clinical utility of RET-He in the diagnosis of different causes of iron-deficient erythropoiesis (IDE). METHODS: Canine CBCs were separated into 2 groups according to RET-He values, < 20.9 pg or ≥ 20.9 pg. Erythrocyte and reticulocyte variables were compared between dogs with decreased and normal RET-He values...
May 16, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28504901/tale-of-two-erythropoiesis-stimulating-agents-utilization-dosing-litigation-and-costs-of-darbepoetin-and-epoetin-among-south-carolina-medicaid-covered-patients-with-cancer-and-chemotherapy-induced-anemia
#13
Virginia Noxon, Kevin B Knopf, LeAnn B Norris, Brian Chen, Y Tony Yang, Zaina P Qureshi, William Hrushesky, Akida A Lebby, Benjamin Schooley, Neset Hikmet, Michael Dickson, Mae Thamer, Dennis Cotter, Paul R Yarnold, Charles L Bennett
PURPOSE: The US Food and Drug Administration (FDA) has approved epoetin and darbepoetin for chemotherapy-induced anemia (CIA). Approved epoetin and darbepoetin dosing schedules were three times per week and weekly, respectively, although off-label, less frequent scheduling was common. In 2004, 2007, and 2008, a US Food and Drug Administration Advisory Committees warned of risks associated with erythropoiesis-stimulating agents. During this period, lawsuits alleging illegal darbepoetin marketing practices have concluded, resulting in $1...
May 15, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28504707/regulation-of-mitochondrial-biogenesis-in-erythropoiesis-by-mtorc1-mediated-protein%C3%A2-translation
#14
Xin Liu, Yuannyu Zhang, Min Ni, Hui Cao, Robert A J Signer, Dan Li, Mushan Li, Zhimin Gu, Zeping Hu, Kathryn E Dickerson, Samuel E Weinberg, Navdeep S Chandel, Ralph J DeBerardinis, Feng Zhou, Zhen Shao, Jian Xu
Advances in genomic profiling present new challenges of explaining how changes in DNA and RNA are translated into proteins linking genotype to phenotype. Here we compare the genome-scale proteomic and transcriptomic changes in human primary haematopoietic stem/progenitor cells and erythroid progenitors, and uncover pathways related to mitochondrial biogenesis enhanced through post-transcriptional regulation. Mitochondrial factors including TFAM and PHB2 are selectively regulated through protein translation during erythroid specification...
May 15, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28503326/incomplete-paraplegia-caused-by-extramedullary-hematopoiesis-in-a-patient-with-thalassemia-intermedia
#15
Nurhasyimah Hisamud-Din, Nadia Mohd Mustafah, Aishah Ahmad Fauzi, Natiara Mohamad Hashim
INTRODUCTION: Extramedullary hematopoiesis (EMH) is the production of blood cell precursors outside the bone marrow that occur in various hematological diseases. In patients with thalassemia intermedia, ineffective erythropoiesis drives compensatory EMH in the liver, pancreas, pleura, spleen, ribs and spine. CASE PRESENTATION: We describe a patient with thalassemia intermedia who presented with acute neurological symptoms caused by paraspinal EMH, which responded well to combination therapy of steroid, hypertransfusion, laminectomy and excision of pseudotumor and hydroxyurea therapy to boost the formation of fetal haemoglobin...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#16
Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28501597/reciprocal-regulation-between-hepcidin-and-erythropoiesis-and-its-therapeutic-application-in-erythroid-disorders
#17
REVIEW
Caiyi Wang, Zheng Fang, Zesen Zhu, Jing Liu, Huiyong Chen
Iron is required for hemoglobin production, and it plays a key role during erythropoiesis. Systemic iron homeostasis is mainly negatively regulated by the peptide hormone hepcidin, coded by the gene HAMP. Hepcidin excess may cause iron deficiency, iron-restricted erythropoiesis and anemia. Conversely, hepcidin insufficiency leads to iron overload and oxidative damage in multiple tissues. During regulation of hepcidin synthesis, multiple promoter elements in the HAMP gene respond to variable signaling pathways corresponding to different extracellular situations...
May 10, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28491927/iron-supplements-for-infants-at-risk-for-iron-deficiency
#18
Brianna C MacQueen, Vickie L Baer, Danielle M Scott, Con Yee Ling, Elizabeth A O'Brien, Caitlin Boyer, Erick Henry, Robert E Fleming, Robert D Christensen
Professional societies have published recommendations for iron dosing of preterm neonates, but differences exist between guidelines. To help develop standardized guidelines, we performed a 10-year analysis of iron dosing in groups at risk for iron deficiency: IDM (infants of diabetic mothers), SGA (small for gestational age), and VLBW premature neonates (very low birth weight, <1500 g). We analyzed iron dosing after red cell transfusions and erythropoiesis-stimulating agents (ESA). Of IDM, 11.8% received iron in the hospital; 9...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28490570/mouse-runx1c-regulates-pre-megakaryocytic-erythroid-output-and-maintains-survival-of-megakaryocyte-progenitors
#19
Julia E Draper, Patrycja Sroczynska, Hui Sun Leong, Muhammad Z H Fadlullah, Crispin Miller, Valerie Kouskoff, Georges Lacaud
RUNX1 is crucial for the regulation of megakaryocyte specification, maturation and thrombopoiesis. Runx1 possesses two promoters: the distal P1 and proximal P2 promoters. The major protein isoforms generated by P1 and P2 are RUNX1C and RUNX1B respectively, which differ solely in their N-terminal amino acid sequences. RUNX1C is the most abundantly expressed isoform in adult hematopoiesis, present in all RUNX1-expressing populations, including the cKit(+) hematopoietic stem and progenitor cells (HSPCs). RUNX1B expression is more restricted, being highly expressed in the megakaryocyte lineage but downregulated during erythropoiesis...
May 10, 2017: Blood
https://www.readbyqxmd.com/read/28488351/homozygous-microdeletion-of-the-eri1-and-mfhas1-genes-in-a-patient-with-intellectual-disability-limb-abnormalities-and-cardiac-malformation
#20
Nancy Choucair, Mariam Rajab, André Mégarbané, Eliane Chouery
A male child, born from consanguineous parents and having intellectual disability, short stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported. Chromosomal microarray analysis showed that the patient presents with an 8p23.1 homozygous deletion, containing the microRNA miR-4660, the exoribonuclease 1 (ERI1), and malignant fibrous histiocytoma amplified sequence 1 (MFHAS1) genes. The microRNA miR-4660 has no known function. MFHAS1 is an immunomodulatory protein involved in Toll-like receptor signaling, erythropoiesis, and cancer...
May 9, 2017: American Journal of Medical Genetics. Part A
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