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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/29324392/abnormal-rna-splicing-and-genomic-instability-after-induction-of-dnmt3a-mutations-by-crispr-cas9-gene-editing
#1
Lauren G Banaszak, Valentina Giudice, Xin Zhao, Zhijie Wu, Shouguo Gao, Kohei Hosokawa, Keyvan Keyvanfar, Danielle M Townsley, Fernanda Gutierrez-Rodrigues, Maria Del Pilar Fernandez Ibanez, Sachiko Kajigaya, Neal S Young
DNA methyltransferase 3A (DNMT3A) mediates de novo DNA methylation. Mutations in DNMT3A are associated with hematological malignancies, most frequently acute myeloid leukemia. DNMT3A mutations are hypothesized to establish a pre-leukemic state, rendering cells vulnerable to secondary oncogenic mutations and malignant transformation. However, the mechanisms by which DNMT3A mutations contribute to leukemogenesis are not well-defined. Here, we successfully created four DNMT3A-mutated K562 cell lines with frameshift mutations resulting in truncated DNMT3A proteins...
January 4, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29227829/a-long-noncoding-rna-from-the-hbs1l-myb-intergenic-region-on-chr6q23-regulates-human-fetal-hemoglobin-expression
#2
Tasha A Morrison, Ibifiri Wilcox, Hong-Yuan Luo, John J Farrell, Ryo Kurita, Yukio Nakamura, George J Murphy, Shuaiying Cui, Martin H Steinberg, David H K Chui
The HBS1L-MYB intergenic region (chr6q23) regulates erythroid cell proliferation, maturation, and fetal hemoglobin (HbF) expression. An enhancer element within this locus, highlighted by a 3-bp deletion polymorphism (rs66650371), is known to interact with the promoter of the neighboring gene, MYB, to increase its expression, thereby regulating HbF production. RNA polymerase II binding and a 50-bp transcript from this enhancer region reported in ENCODE datasets suggested the presence of a long noncoding RNA (lncRNA)...
November 29, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29217295/investigation-of-a-minor-groove-binding-polyamide-targeted-to-e2f1-transcription-factor-in-chronic-myeloid-leukaemia-cml-cells
#3
LETTER
Kourosh Hayatigolkhatmi, Giacomo Padroni, Wu Su, Lijing Fang, Eduardo Gómez-Castañeda, Ya-Ching Hsieh, Lorna Jackson, Tessa L Holyoake, Francesca Pellicano, Glenn A Burley, Heather G Jørgensen
No abstract text is available yet for this article.
November 26, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29187290/therapeutic-position-of-eliglustat
#4
LETTER
Timothy M Cox, Pramod K Mistry
No abstract text is available yet for this article.
November 22, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29162392/hematological-phenotypes-in-children-according-to-the-%C3%AE-globin-genotypes
#5
Raffaella Origa, Susanna Barella, Maria Elisabetta Paglietti, Franco Anni, Fabrice Danjou, Anna Rita Denotti, Maria Franca Desogus, Daniela Loi, Valeria Orecchia, Maria Carla Sollaino, Paolo Moi
Limited information is available on the hematological characterization of the α-thalassemia carrier in pediatric age. The objective of this report was to evaluate the red cell indices according to the α-globin genotype in a cohort of children evaluated in Sardinia. Moreover, we verified the frequency of different α-globin genotypes in this cohort. A total of 453 subjects were investigated for hematological indices and for the most common α-globin defects present in Sardinia. Of them, 352 with HbA2≤3.2%, and no iron deficiency anemia were taken into consideration to evaluate the red cell indices according to the α-globin genotype in pediatric age...
November 3, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29137845/enumeration-of-bone-marrow-plasmacytoid-dendritic-cells-by-multiparameter-flow-cytometry-as-a-prognostic-marker-following-allogeneic-hematopoietic-stem-cell-transplantation
#6
Ruijun Jeanna Su, Ralph Green, Mingyi Chen
Plasmacytoid dendritic cells (pDCs) promote tolerance in solid organ transplants and hematopoietic stem cell transplantation (HSCT). pDCs originate from CD34(+) hematopoietic progenitors. Following allogeneic hematopoietic stem cell transplant (allo-HSCT), pDC reconstitution in the BM and PB gradually attain levels similar to those in healthy individuals. We have investigated the recovery of pDC following allo-HSCT as a means to predict successful marrow engraftment. We retrospectively studied immune reconstitution of pDC in the BM of 48 patients following allo-HSCT for initial diagnoses of leukemia or other malignancies...
October 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29126700/structure-and-function-of-haemoglobins
#7
REVIEW
David A Gell
Haemoglobin (Hb) is widely known as the iron-containing protein in blood that is essential for O2 transport in mammals. Less widely recognised is that erythrocyte Hb belongs to a large family of Hb proteins with members distributed across all three domains of life-bacteria, archaea and eukaryotes. This review, aimed chiefly at researchers new to the field, attempts a broad overview of the diversity, and common features, in Hb structure and function. Topics include structural and functional classification of Hbs; principles of O2 binding affinity and selectivity between O2/NO/CO and other small ligands; hexacoordinate (containing bis-imidazole coordinated haem) Hbs; bacterial truncated Hbs; flavohaemoglobins; enzymatic reactions of Hbs with bioactive gases, particularly NO, and protection from nitrosative stress; and, sensor Hbs...
October 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29108692/a-novel-nonsense-mutation-in-a-patient-with-hermansky-pudlak-syndrome-type-4
#8
Kirstin Sandrock-Lang, Doris Böckelmann, Wolfgang Eberl, Sophie Schmitt-Kästner, Barbara Zieger
No abstract text is available yet for this article.
October 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29100877/prospective-studies-of-the-incidence-of-pediatric-arterial-ischaemic-stroke
#9
LETTER
Andrew A Mallick, Finbar J O'Callaghan
No abstract text is available yet for this article.
October 25, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29079134/impact-of-chromosome-alterations-genetic-mutations-and-clonal-hematopoiesis-of-indeterminate-potential-chip-on-the-classification-and-risk-stratification-of-mds
#10
REVIEW
Bani Bandana Ganguly, Debasis Banerjee, Mohan B Agarwal
The advent of technological development has undoubtedly advanced biological and molecular inputs for better understanding the heterogeneous hematopoietic pre-malignant disorder of the stem cells known as myelodysplastic syndromes (MDS). Chromosomal rearrangements, including del(3q/5q/7q/11q/12p/20q), loss of 5/7/Y, trisomy 8/19, i(17q), etc. frequently detected in MDS with variable frequencies and combinations, are the integral components of the 5-tier risk-stratification and WHO-2016 classification. Observations on mutations in genes involved in RNA-splicing, DNA methylation, chromatin modification, transcription factor, signal transduction/kinases, RAS pathway, cohesin complex, DNA repair and other pathways have given insights in independent effects and biological interaction of co-occurrence on disease-phenotype and treatment outcome...
October 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29107441/real-life-experience-with-hydroxyurea-in-sickle-cell-disease-a-multicenter-study-in-a-cohort-of-patients-with-heterogeneous-descent
#11
Paolo Rigano, Lucia De Franceschi, Laura Sainati, Antonio Piga, Frédéric B Piel, Maria Domenica Cappellini, Carmelo Fidone, Nicoletta Masera, Giovanni Palazzi, Barbara Gianesin, Gian Luca Forni
We conducted the first nation-wide cohort study of sickle cell disease (SCD) in Italy, a Southern European country exposed to intense recent flux migration from endemic areas for SCD. We evaluate the impact of hydroxyurea on a total of 652 pediatric and adult patients from 33 Reference Centers for SCD (mean age 24.5±15years, 51.4% males). Hydroxyurea median treatment duration was 7years (range: <1year to 29years) at a mean therapeutic dose of 18±4.7mg/kg/day. Hydroxyurea was associated with a significant increase in mean total and fetal hemoglobin and a significant decrease in mean hemoglobin S, white blood and platelet counts, and lactate dehydrogenase levels...
October 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29032941/ferritin-iron-regulators-pcbp1-and-ncoa4-respond-to-cellular-iron-status-in-developing-red-cells
#12
Moon-Suhn Ryu, Kari A Duck, Caroline C Philpott
Developing red blood cells exhibit multiple, redundant systems for regulating and coordinating the uptake of iron, the synthesis of heme, and the formation of hemoglobin during terminal differentiation. We recently described the roles of poly rC-binding protein (PCBP1) and nuclear coactivator 4 (NCOA4) in mediating the flux of iron through ferritin in developing erythroid cells, with PCBP1, an iron chaperone, delivering iron to ferritin and NCOA4, an autophagic cargo receptor, directing ferritin to the lysosome for degradation and iron release...
September 28, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29030091/clinical-characteristics-of-acute-promyelocytic-leukemiawith-the-stat5b-rara-fusion-gene
#13
LETTER
Congxiao Zhang, Ying Wang, Bingcheng Liu, Benfa Gong, Xiaoyuan Gong, Yuntao Liu, Yingchang Mi, Jianxiang Wang
No abstract text is available yet for this article.
September 27, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28964680/polarization-of-neutrophil-granules-a-characteristic-of-inflammatory-states
#14
LETTER
Kalyan C Mantripragada, Peter J Quesenberry
No abstract text is available yet for this article.
September 25, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29032940/molecular-basis-of-%C3%AE-thalassemia
#15
REVIEW
Samaneh Farashi, Cornelis L Harteveld
α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in the world population. The clinical severity varies from almost asymptomatic, to mild microcytic hypochromic, and to a lethal hemolytic condition, called Hb Bart's Hydrops Foetalis Syndrome. The molecular basis are usually deletions and less frequently, point mutations affecting the expression of one or more of the duplicated α-genes. The clinical variation and increase in disease severity is directly related to the decreased expression of one, two, three or four copies of the α-globin genes...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28954710/mechanisms-of-anti-cancer-effects-of-ascorbate-cytotoxic-activity-and-epigenetic-modulation
#16
REVIEW
Domenico Mastrangelo, Elvira Pelosi, Germana Castelli, Francesco Lo-Coco, Ugo Testa
Vitamin C (Vit C or Ascorbate) is essential for many fundamental biochemical processes. Vit C is an essential nutrient with redox functions at normal physiologic concentrations. The main physiologic function of this vitamin is related to its capacity to act as a co-factor for a large family of enzymes, collectively known as Fe and 2-oxoglutarate-dependent dioxygenases. It also modulates epigenetic gene expression through the control of TET enzymes activity. Vit C also has several biological properties allowing to restore the deregulated epigenetic response observed in many tumors...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28951038/losartan-therapy-decreases-albuminuria-with-stable-glomerular-filtration-and-permselectivity-in-sickle-cell-anemia
#17
Marianne E Yee, Peter A Lane, David R Archer, Clinton H Joiner, James R Eckman, Antonio Guasch
Sickle cell nephropathy begins with hyperfiltration and microalbuminuria and may progress to renal failure. The aim of this study was to determine the effects of losartan on glomerular function and albumin excretion in sickle cell anemia (SCA). Individuals with SCA on hydroxyurea with persistent albuminuria were enrolled in a 1-year study of losartan. Glomerular filtration rate (GFR) measured by iohexol clearance, albumin excretion rate (AER), and fractional clearance of dextran were assessed at baseline, short-term (1-2month), and long-term (≥12month) intervals...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28935503/should-eliglustat-be-first-line-therapy-for-patients-with-type-1-gaucher-disease-definitions-of-safety-and-efficacy
#18
Ari Zimran, Jack Goldblatt, Jeff Szer
No abstract text is available yet for this article.
September 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28918238/recent-advances-and-future-challenges-in-gaucher-disease
#19
EDITORIAL
Ari Zimran, Jeff Szer
No abstract text is available yet for this article.
September 8, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28918237/preface-to-the-special-issue-on-gaucher-disease-2017
#20
EDITORIAL
Ari Zimran, Jeff Szer
No abstract text is available yet for this article.
September 8, 2017: Blood Cells, Molecules & Diseases
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