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https://www.readbyqxmd.com/read/28941328/inducing-indel-mutation-in-the-sox6-gene-by-zinc-finger-nuclease-for-gamma-reactivation-an-approach-towards-gene-therapy-of-beta-thalassemia
#1
Mehran Modares, Laleh Shariati, Zahra Hejazi, Mansoureh Shahbazi, Mohammad Amin Tabatabaiefar, Hossein Khanahmad
β-thalassemia is a common autosomal recessive disorder characterized by a deficiency in the synthesis of β-chains.Evidences show that increased HbF levels improve the symptoms in patients with β-thalassemia or sickle cell anemia. In this study, ZFN technology was applied to induce a mutation in the binding domain region of SOX6 to reactivate γ-globin expression. The sequences coding for ZFP arrays were designed and sub cloned in TDH plus as a transfer vector. The ZFN expression was confirmed using Western blot analysis...
September 23, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28939159/marked-variation-in-prevalence-of-malaria-protective-human-genetic-polymorphisms-across-uganda
#2
Andrew Walakira, Stephen Tukwasibwe, Moses Kiggundu, Federica Verra, Patrick Kakeeto, Emmanuel Ruhamyankaka, Chris Drakeley, Grant Dorsey, Moses R Kamya, Samuel L Nsobya, Philip J Rosenthal
A number of human genetic polymorphisms are prevalent in tropical populations and appear to offer protection against symptomatic and/or severe malaria. We compared the prevalence of four polymorphisms, the sickle hemoglobin mutation (β globin E6V), the α-thalassemia 3.7kb deletion, glucose-6-phosphate dehydrogenase deficiency caused by the common African variant (G6PD A-), and the CD36 T188G mutation in 1344 individuals residing in districts in eastern (Tororo), south-central (Jinja), and southwestern (Kanungu) Uganda...
September 19, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28932402/comparative-study-of-sickle-cell-anemia-and-hemoglobin-sc-disease-clinical-characterization-laboratory-biomarkers-and-genetic-profiles
#3
Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves
BACKGROUND: In this study, we evaluate the association of different clinical profiles, laboratory and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in attempt to characterize the sickle cell disease (SCD) genotypes. METHODS: We conducted a cross-sectional study from 2013 to 2014 in 200 SCD individuals (141 with SCA; 59 with HbSC) and analyzed demographic data to characterize the study population. In addition, we determined the association of hematological, biochemical and genetic markers including the β(S)-globin gene haplotypes and the 3...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28927555/comparative-study-of-clinical-presentation-and-hematological-indices-in-hospitalized-sickle-cell-patients-with-severe-plasmodium-falciparum-malaria
#4
Prasanta Purohit, Pradeep Kumar Mohanty, Siris Patel, Padmalaya Das, Jogeswar Panigrahi, Kishalaya Das
BACKGROUND: Sickle-cell-gene has a high frequency in malaria endemic regions. In India, though the prevalence of both sickle-cell-gene and malaria are high, no study has been carried out. This study aims to find out the possible differences in hematological and clinical parameters in severe falciparum malaria with respect to sickle cell genotypes. METHODS: Five hundred fourteen adults with severe falciparum malaria hospitalized in Department of Medicine, Veer Surendra Sai Institute of Medical Sciences and Research, Burla, between August, 2010 to December, 2014 were included and categorized on the basis of sickle cell genotypes...
September 15, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28918749/effect-of-low-temperature-on-globin-expression-respiratory-metabolic-enzyme-activities-and-gill-structure-of-litopenaeus-vannamei
#5
Meng Wu, Nan Chen, Chun-Xiao Huang, Yan He, Yong-Zhen Zhao, Xiao-Han Chen, Xiu-Li Chen, Huan-Ling Wang
Low temperature frequently influences growth, development, and even survival of aquatic animals. In the present study, physiological and molecular responses to low temperature in Litopenaeus vannamei were investigated. The cDNA sequences of two oxygen-carrying proteins, cytoglobin (Cygb) and neuroglobin (Ngb), were isolated. Protein structure analysis revealed that both proteins share a globin superfamily domain. Real-time PCR analysis indicated that Cygb and Ngb mRNA levels gradually increased during decrease in temperatures from 25 to 15°C and then decreased at 10°C in muscle, brain, stomach, and heart, except for a continuing increase in gills, whereas they showed a different expression trend in the hepatopancreas...
July 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28916723/fibroblast-growth-factor-2-fgf2-regulates-cytoglobin-expression-and-activation-of-human-hepatic-stellate-cells-via-jnk-signaling
#6
Misako Sato-Matsubara, Tsutomu Matsubara, Atsuko Daikoku, Yoshinori Okina, Lisa Longato, Krista Rombouts, Le Thi Thanh Thuy, Jun Adachi, Takeshi Tomonaga, Kazuo Ikeda, Katsutoshi Yoshizato, Massimo Pinzani, Norifumi Kawada
Cytoglobin (CYGB) belongs to the mammalian globin family and is exclusively expressed in hepatic stellate cells (HSCs) in the liver. In addition to its gas-binding ability, CYGB is relevant to hepatic inflammation, fibrosis, and cancer because of its antioxidative properties; however, the regulation of CYGB gene expression remains unknown. Here, we sought to identify factors that induce CYGB expression in HSCs and to clarify the molecular mechanism involved. We used the human HSC cell line HHSteC and primary human HSCs isolated from intact human liver tissues...
September 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28916711/comparative-analysis-of-three-dimensional-chromosomal-architecture-identifies-a-novel-fetal-hemoglobin-regulatory-element
#7
Peng Huang, Cheryl A Keller, Belinda Giardine, Jeremy D Grevet, James O J Davies, Jim R Hughes, Ryo Kurita, Yukio Nakamura, Ross C Hardison, Gerd A Blobel
Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and found that, globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detected distinct folding patterns at the developmentally controlled β-globin locus. Specifically, new fetal stage-specific contacts were uncovered between a region separating the fetal (γ) and adult (δ and β) globin genes (encompassing the HBBP1 and BGLT3 noncoding genes) and two distal chromosomal sites (HS5 and 3'HS1) that flank the locus...
September 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28910278/defective-erythropoiesis-caused-by-mutations-of-the-thyroid-hormone-receptor-%C3%AE-gene
#8
Sunmi Park, Cho Rong Han, Jeong Won Park, Li Zhao, Xuguang Zhu, Mark Willingham, David M Bodine, Sheue-Yann Cheng
Patients with mutations of the THRA gene exhibit classical features of hypothyroidism, including erythroid disorders. We previously created a mutant mouse expressing a mutated TRα1 (denoted as PV; Thra1PV/+ mouse) that faithfully reproduces the classical hypothyroidism seen in patients. Using Thra1PV/+ mice, we explored how the TRα1PV mutant acted to cause abnormalities in erythropoiesis. Thra1PV/+ mice exhibited abnormal red blood cell indices similarly as reported for patients. The total bone marrow cells and erythrocytic progenitors were markedly reduced in the bone marrow of Thra1PV/+ mice...
September 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28899945/bindings-of-no-co-and-o2-to-multi-functional-globin-type-dehaloperoxidase-follow-the-sliding-scale-rule
#9
Gang Wu, Jing Zhao, Stefan Franzen, Ah-Lim Tsai
Dehaloperoxidase-hemoglobin (DHP), a multifunctional globin protein, functions not only as an oxygen carrier as typical globins such as myoglobin, but also as a peroxidase, a mono- and di-oxygenase, peroxygenase, and an oxidase. Kinetics of DHP binding to NO, CO, and O2 were characterized for wild type DHP A and B and the H55D and H55V DHP A mutants. All three gaseous ligands bind to DHP significantly more weakly than sperm whale myoglobin (SWMb). Both CO and NO bind to DHP in a one-step process to form a stable six-coordinate complex...
September 12, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28895851/gene-therapy-approaches-to-hemoglobinopathies
#10
REVIEW
Giuliana Ferrari, Marina Cavazzana, Fulvio Mavilio
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with a lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Preclinical and early clinical studies showed the safety and potential efficacy of this therapeutic approach as well as the hurdles still limiting its general application. In addition, for both beta-thalassemia and sickle cell disease, an altered bone marrow microenvironment reduces the efficiency of stem cell harvesting as well as engraftment...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28887661/widening-the-spectrum-of-deletions-and-molecular-mechanisms-underlying-alpha-thalassemia
#11
José Ferrão, Marisa Silva, Lúcia Gonçalves, Susana Gomes, Pedro Loureiro, Andreia Coelho, Armandina Miranda, Filomena Seuanes, Ana Batalha Reis, Francisca Pina, Raquel Maia, Paula Kjöllerström, Estela Monteiro, João F Lacerda, João Lavinha, João Gonçalves, Paula Faustino
Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, multiplex ligation-dependent probe amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the sub-telomeric region of the short arm of chromosome 16, possibly explaining the α-thalassemia/HbH disease phenotype in ten patients. We have found six different deletions, in heterozygosity, ranging from approximately 3...
September 8, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28887325/at-least-20-donor-myeloid-chimerism-is-necessary-to-reverse-the-sickle-phenotype-after-allogeneic-hsct
#12
Courtney D Fitzhugh, Stefan Cordes, Tiffani Taylor, Wynona Coles, Katherine Roskom, Mary Link, Matthew M Hsieh, John F Tisdale
Novel curative therapies employing genetic transfer of normal globin-producing genes into autologous hematopoietic stem cells (HSCs) are in clinical trials for patients with sickle cell disease (SCD). The percentage of transferred globin necessary to cure SCD is currently not known. In the setting of allogeneic nonmyeloablative hematopoietic stem cell transplants (HSCT), stable mixed chimerism is sufficient to reverse the disease. We regularly monitored 67 patients after HSCT. After initially robust engraftment, three of these patients experienced declining donor myeloid chimerism (DMC) levels with eventual return of disease...
September 8, 2017: Blood
https://www.readbyqxmd.com/read/28886314/alterations-on-high-hbf-levels-may-be-associated-with-klf1-gene-mutations
#13
M Aydin, E Rencuzogullari, S Bayram, Y Sevgiler, A Genc
The KLF1 gene synthesizes a transcription factor in the zinc finger structure that regulates the transcription of β-, γ-globin, and Foxm1 genes. This factor plays an important role in the erythropoiesis mechanism by modifying the chromatin structure and is involved in the regulation of transcription in the opening of the β-globin gene. β-globin gene expression could be disrupted by a mutation, which may be a possible cause of a disruption in regulation of the promotor of the β-globin gene where the KLF1 transcription factor binds...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28884403/resonance-raman-studies-on-the-flavohemoglobin-of-the-protist-giardia-intestinalis-evidence-of-a-type-i-ii-peroxidase-like-heme-environment-and-roles-of-the-active-site-distal-residues
#14
Brian Lukaszewicz, Eliza McColl, Janet Yee, Steven Rafferty, Manon Couture
Flavohemoglobins are microbial enzymes that counter nitrosative stress, but the details of their underlying enzymatic activities and structure-function relationships are not completely understood. These enzymes have been identified in Gram-negative bacteria, certain fungi, and the parasitic protist Giardia intestinalis (gFlHb) which, despite lacking the ability to make heme, encodes several hemeproteins. To gain knowledge about the biophysical properties of the active site of gFlHb, we used resonance Raman spectroscopy to probe the wild-type protein and variants at globin domain positions E11, E7, and B10 on the distal, ligand-binding side of the heme...
September 7, 2017: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/28883470/cytoglobin-promotes-cardiac-progenitor-cell-survival-against-oxidative-stress-via-the-upregulation-of-the-nf%C3%AE%C2%BAb-inos-signal-pathway-and-nitric-oxide-production
#15
Shuning Zhang, Xiuchun Li, Frances L Jourd'heuil, Shunlin Qu, Neil Devejian, Edward Bennett, David Jourd'heuil, Chuanxi Cai
Human cardiac stem/progenitor cells (hCPCs) may serve in regenerative medicine to repair the infarcted heart. However, this approach is severely limited by the poor survival of donor cells. Recent studies suggest that the mammalian globin cytoglobin (CYGB) regulates nitric oxide (NO) metabolism and cell death. In the present study, we found that CYGB is expressed in hCPCs. Through molecular approaches aimed at increasing or decreasing CYGB expression in hCPCs, we found that CYGB functions as a pro-survival factor in response to oxidative stress...
September 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28879539/synergistic-effect-of-two-%C3%AE-globin-gene-cluster-mutations-leading-to-the-hereditary-persistence-of-fetal-hemoglobin-hpfh-phenotype
#16
Priya Hariharan, Madhavi Sawant, Manju Gorivale, Ruma Manchanda, Roshan Colah, K Ghosh, Anita Nadkarni
Co-inheritance of gamma and beta globin gene mutations in a compound heterozygous state is rare but of clinical interest as it provides an important data on understanding the HbF expression. Hematological analysis was carried out (Sysmex KX-21). F-cells were enumerated using flow cytometry. Beta globin gene was analysed by CRDB technique and by DNA sequencing. Gamma globin promoter region was sequenced and expression studies were carried out using real time Taqman assay. We report a family, where two inherited defects of the β globin gene cluster segregate...
September 6, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28879424/increasing-the-involvement-of-diverse-populations-in-genomics-based-health-care-lessons-from-haemoglobinopathies
#17
Helen M Robinson
Integrating genomic medicine into health care delivery poses significant challenges to health professionals. To draw clinical benefit from genomic information, there is a need to build an evidence-based relationship between genotype and the physical expression of that genomic information. The work presented here uses preliminary work in the field of haemoglobinopathies to address two important challenges: to ensure that health care professionals in low- and middle-income countries are actively involved in the processes that will support genomic medicine, and that equity and diversity concerns are met so that clinical services can have relevance across all population and sub-population groups...
September 6, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28871148/editing-an-%C3%AE-globin-enhancer-in-primary-human-hematopoietic-stem-cells-as-a-treatment-for-%C3%AE-thalassemia
#18
Sachith Mettananda, Chris A Fisher, Deborah Hay, Mohsin Badat, Lynn Quek, Kevin Clark, Philip Hublitz, Damien Downes, Jon Kerry, Matthew Gosden, Jelena Telenius, Jackie A Sloane-Stanley, Paula Faustino, Andreia Coelho, Jessica Doondeea, Batchimeg Usukhbayar, Paul Sopp, Jacqueline A Sharpe, Jim R Hughes, Paresh Vyas, Richard J Gibbons, Douglas R Higgs
β-Thalassemia is one of the most common inherited anemias, with no effective cure for most patients. The pathophysiology reflects an imbalance between α- and β-globin chains with an excess of free α-globin chains causing ineffective erythropoiesis and hemolysis. When α-thalassemia is co-inherited with β-thalassemia, excess free α-globin chains are reduced significantly ameliorating the clinical severity. Here we demonstrate the use of CRISPR/Cas9 genome editing of primary human hematopoietic stem/progenitor (CD34+) cells to emulate a natural mutation, which deletes the MCS-R2 α-globin enhancer and causes α-thalassemia...
September 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28868125/restoration-of-correct-splicing-in-ivsi-110-mutation-of-%C3%AE-globin-gene-with-antisense-oligonucleotides-implications-and-applications-in-functional-assay-development
#19
Sima Mansoori Derakhshan, Mahmoud Shekari Khaniani
OBJECTIVES: The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by aberrant splicing. Selection of the appropriate target site is essential in the success of an AO therapy. In this study, in search for a splice model system to facilitate the evaluation of AOs to redirect defective splicing of IVSI-110 β-globin intron, an EGFP-based IVSI-110 specific cellular reporter assay system has been developed and a number of AOs were tested in this cellular splicing assay...
June 2017: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28866736/peroxynitrite-scavenging-by-campylobacter-jejuni-truncated-hemoglobin-p
#20
Paolo Ascenzi, Alessandra Pesce
Truncated hemoglobins (trHb) are present in protozoa, cyanobacteria, nemertean, bacteria, algae, and plants. They are characterized by the 2-on-2 topology and are ordered in four phylogenetic groups (I or N, II or O, III or P, and IV or Q). Several functions have been attributed to trHbs including the inactivation of reactive nitrogen and oxygen species, permitting the survival of microorganisms in the host. Here, the kinetics of peroxynitrite scavenging by ferric Campylobacter jejuni truncated hemoglobin P [i...
September 2, 2017: Journal of Biological Inorganic Chemistry: JBIC
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