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https://www.readbyqxmd.com/read/28434866/lentiviral-vectors-with-cellular-promoters-correct-anemia-and-lethal-bone-marrow-failure-in-a-mouse-model-for-diamond-blackfan-anemia
#1
Shubhranshu Debnath, Pekka Jaako, Kavitha Siva, Michael Rothe, Jun Chen, Maria Dahl, H Bobby Gaspar, Johan Flygare, Axel Schambach, Stefan Karlsson
Diamond-Blackfan anemia is a congenital erythroid hypoplasia and is associated with physical malformations and a predisposition to cancer. Twenty-five percent of patients with Diamond-Blackfan anemia have mutations in a gene encoding ribosomal protein S19 (RPS19). Through overexpression of RPS19 using a lentiviral vector with the spleen focus-forming virus promoter, we demonstrated that the Diamond-Blackfan anemia phenotype can be successfully treated in Rps19-deficient mice. In our present study, we assessed the efficacy of a clinically relevant promoter, the human elongation factor 1α short promoter, with or without the locus control region of the β-globin gene for treatment of RPS19-deficient Diamond-Blackfan anemia...
April 20, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28432529/ginseng-derived-panaxadiol-saponins-promote-hematopoiesis-recovery-in-cyclophosphamide-induced-myelosuppressive-mice-potential-novel-treatment-of-chemotherapy-induced-cytopenias
#2
Xin Sun, Yan-Na Zhao, Song Qian, Rui-Lan Gao, Li-Ming Yin, Li-Pei Wang, Beng-Hock Chong, Su-Zhan Zhang
OBJECTIVE: To investigate the potential efficacy of panaxadiol saponins component (PDS-C), a biologically active fraction isolated from total ginsenosides, to reverse chemotherapy-induced myelosuppression and pancytopenia caused by cyclophamide (CTX). METHODS: Mice with myelosuppression induced by CTX were treated with PDS-C at a low- (20 mg/kg), moderate- (40 mg/kg), or high-dose (80 mg/kg) for 7 consecutive days. The level of peripheral white blood cell (WBC), neutrophil (NEU) and platelet (PLT) were measured, the histopathology and colony formation were observed, the protein kinase and transcription factors in hematopoietic cells were determined by immunohistochemical staining and Western blot...
April 22, 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28428250/functional-roles-of-globin-proteins-in-hypoxia-tolerant-ectothermic-vertebrates
#3
Angela Fago
Globins are heme-containing proteins ubiquitously expressed in vertebrates, where they serve a broad range of biological functions, directly or indirectly related to the tight control of oxygen levels and its toxic products in vivo. Perhaps the most investigated of all proteins, hemoglobin and myoglobin are primarily involved in oxygen transport and storage, but also in facilitating arterial vasodilation, suppressing mitochondrial respiration and preventing tissue oxidative damage via accessory redox enzymatic activities during hypoxia...
April 20, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28424478/the-prevalence-of-thalassemia-in-mainland-china-evidence-from-epidemiological-surveys
#4
Ketong Lai, Guifeng Huang, Li Su, Yunyan He
Comprehensive data regarding the epidemiology and prevalence of thalassemia in mainland China are lacking. To assess the prevalence of thalassemia, we performed a meta-analysis including 16 articles published from 1981 to 2015. The overall prevalence of α-thalassemia, β-thalassemia and α + β-thalassemia was 7.88%, 2.21% and 0.48%, respectively. Trends in thalassemia prevalence in mainland China were not steady; a prevalence map based on a geographic information system (GIS) showed that the geographic distribution of thalassemia was highest in the south of China and decreased from south to north...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28420619/analysis-of-variants-in-upstream-open-reading-frames-of-human-globin-related-genes
#5
Ye Yuhua, Zhang Qianqian, Zhong Jianmei, Li Yihong, Zhang Li, Yu Qiuxia, Xu Xiangmin
β-thalassemia is an autosomal recessive monogenic disease that is caused by defects in the production of β-like globin chains. Activation of γ-globin gene and the increase in fetal hemoglobin expression have been demonstrated as one of the most important factors to ameliorate the clinical outcome of β-thalassemia patients. In this study, 202 genes or miRNAs associated with human hemoglobin gene expression from 1802 β-thalassemia patients were analyzed with target capture and next generation sequencing strategies in terms of functional variants that might affect hemoglobin gene expression...
March 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28413201/detection-of-%C3%AE-thalassaemia-in-neonates-on-cord-blood-and-dried-blood-spot-samples-by-capillary-electrophoresis
#6
H Alauddin, M Langa, M Mohd Yusoff, R Z A Raja Sabudin, A Ithnin, N F Abdul Razak, N H Sardi, N H Hussin
INTRODUCTION: Haemoglobin Bart's (Hb Bart's) level is associated with α-thalassaemia traits in neonates, enabling early diagnosis of α-thalassaemia. The study aimed to detect and quantify the Hb Bart's using Cord Blood (CB) and CE Neonat Fast Hb (NF) progammes on fresh and dried blood spot (DBS) specimen respectively by capillary electrophoresis (CE). METHODS: Capillarys Hemoglobin (E) Kit (for CB) and Capillarys Neonat Hb Kit (for NF) were used to detect and quantify Hb Bart's by CE in fresh cord blood and dried blood spot (DBS) specimens respectively...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28410531/tumor-grade-related-expression-of-neuroglobin-is-negatively-regulated-by-ppar%C3%AE-and-confers-antioxidant-activity-in-glioma-progression
#7
Jing Hu, Xiyue Cao, Dejiang Pang, Qihui Luo, Yuanfeng Zou, Bin Feng, Lixia Li, Zhengli Chen, Chao Huang
Neuroglobin (NGB), distributed mainly in central and peripheral nervous systems, is a nerve globin with neuroprotective effects against oxidative stress resulting from hypoxia and ischemia. Recent studies have indicated that the expression of NGB is related to neurodegenerative disorders and cancers, but the molecular mechanisms for its transcriptional regulation and protection are not well defined. Here, we report that the expression of NGB in glioma is grade related and is negatively regulated by PPARγ. Specific PPARγ agonist reduces the expression of NGB, while its inhibitor enhances the expression...
April 1, 2017: Redox Biology
https://www.readbyqxmd.com/read/28406128/variations-in-the-%C3%AE-globin-genes-of-sickle-cell-anaemia-patients-in-zaria-northwestern-nigeria
#8
S Awwalu, A I Mamman, A Hassan, L G Dogara, A D Waziri, S M Aminu, A U Musa, H Bello-Manga
CONTEXT: Sickle Cell Anaemia (SCA) is a genetic disorder with a life-long disability, which is of public health importance. The diversity in its clinico-pathologic and laboratory presentations may be due to the interplay between additional genetic differences and environmental factors. The genetic factors may be within the β-globin gene itself, the β-globin gene cluster or elsewhere in the genome. AIM: To characterize the β-globin gene for variations associated with the Sickle Cell mutation...
April 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28395745/establishment-of-mui009-a-human-induced-pluripotent-stem-cells-from-a-32year-old-male-with-homozygous-%C3%AE-%C3%A2-thalassemia-coinherited-with-heterozygous-%C3%AE-thalassemia-2
#9
Wasinee Wongkummool, Warun Maneepitasut, Pirut Tong-Ngam, Amornrat Tangprasittipap, Thongperm Munkongdee, Chanikarn Boonchuay, Saovaros Svasti, Narisorn Kitiyanant, Kittiphong Paiboonsukwong, Suthat Fucharoen, Alisa Tubsuwan
The thalassemias are a group of genetic disorders characterized by a deficiency in the synthesis of globin chains. In this study the MUi009-A human induced pluripotent stem cell line was successfully generated from peripheral blood CD34+ haematopoietic progenitors of a 32year old male who had coinherited a homozygous β°-thalassemia mutation at codon 41/42 (-TCTT) and a heterozygous α-thalassemia 4.2 deletion. The MUi009-A cell line exhibited embryonic stem cell characteristics with consistent pluripotency marker expression and the capability of differentiating into the three germ layers...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395547/a-novel-mutation-of-the-%C3%AE-2-globin-gene-causing-%C3%AE-thalassemia-hb-nanning-hba2-c-369_370delinsga
#10
Biyan Chen, Li Lin, Shang Yi, Qiuli Chen, Hongwei Wei, Guojian Li, Chenguang Zheng, Sheng He, XiaoXia Qiu
We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α(+)-thalassemia (α(+)-thal) patient.
April 11, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28395541/hb-presbyterian-hbb-c-327c-g-in-a-nicaraguan-family
#11
Allan Pernudy-Ubau, Jaslyn Salinas-Molina, Yaneris Requenez, Marianela Ortiz-Lopez, Ann-Christin Puller, Kenia García-Rosales, Anaishelle Rodríguez-Estrada, Walter Rodríguez-Romero, Gerardo Mejía-Baltodano, Hong-Yuan Luo, David H K Chui
Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the β-globin gene results in the substitution of asparagine by lysine. Here, we document the identification of HBB: c...
April 11, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28394017/multidomain-truncated-hemoglobins-new-members-of-the-globin-family-exhibiting-tandem-repeats-of-globin-units-and-domain-fusion
#12
Mangesh Dattu Hade, Jagdeep Kaur, Pradip K Chakraborti, Kanak L Dikshit
Truncated hemoglobins (trHbs) are considered the most primitive members of globin superfamily and traditionally exist as a single domain heme protein in three distinct structural organizations, type I (trHb1_N), type II (trHb2_O) and type III (trHb3_P). Our search of microbial and lower eukaryotic genomes revealed a broad array of multidomain organization, representing multiunit and chimeric forms of trHbs, where multiple units of trHbs are joined together and/or integrated with distinct functional domains...
April 10, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28393874/cytoglobin-regulates-blood-pressure-and-vascular-tone-through-nitric-oxide-metabolism-in-the-vascular-wall
#13
Xiaoping Liu, Mohamed A El-Mahdy, James Boslett, Saradhadevi Varadharaj, Craig Hemann, Tamer M Abdelghany, Raed S Ismail, Sean C Little, Danlei Zhou, Le Thi Thanh Thuy, Norifumi Kawada, Jay L Zweier
The identity of the specific nitric oxide dioxygenase (NOD) that serves as the main in vivo regulator of O2-dependent NO degradation in smooth muscle remains elusive. Cytoglobin (Cygb) is a recently discovered globin expressed in fibroblasts and smooth muscle cells with unknown function. Cygb, coupled with a cellular reducing system, efficiently regulates the rate of NO consumption by metabolizing NO in an O2-dependent manner with decreased NO consumption in physiological hypoxia. Here we show that Cygb is a major regulator of NO degradation and cardiovascular tone...
April 10, 2017: Nature Communications
https://www.readbyqxmd.com/read/28391745/a-clinical-update-of-the-hb-siirt-%C3%AE-27-b9-ala%C3%A2-gly-hbb-c-83c-g-hemoglobin-variant
#14
Maria Pia Cappabianca, Alessia Colosimo, Annalaura Sabatucci, Enrico Dainese, Paola Di Biagio, Roberta Piscitelli, Ofelia Sarra, Daniela Zei, Antonio Amato
We report a clinical update of the hemoglobin (Hb) variant [β27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c.17_18delCT) frameshift mutation and of the ααα (anti 3.7) triplication. Her initial moderate β-thalassemia intermedia (β-TI) phenotype worsened with time, causing the patient to become a transfusion-dependent subject at the age of ∼40 years. Subsequent molecular characterization of both parents revealed that the Hb Siirt variant was inherited by the mother, while the other two globin alterations (HBB: c...
April 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28386676/attitudes-and-beliefs-among-high-and-low-risk-population-groups-towards-%C3%AE-thalassemia-prevention-a-cross-sectional-descriptive-study-from-india
#15
Swati Chawla, Rajnish Kumar Singh, Bhaskar V K S Lakkakula, Raghavendra Rao Vadlamudi
β-thalassemia is an autosomal recessive blood disorder caused by gene mutations that affect all aspects of β-globin production. In majority of Asian countries including India, the frequency of β-thalassemia is closely intertwined with social, cultural, and religious issues of the respective country. Several national level screening programs imparted education regarding β-thalassemia, but follow-up evaluation revealed that education was not effective. It has been hypothesized that the beliefs and attitudes, carrier screening, and education among "high risk communities" will have far-reaching implications towards β-thalassemia prevention in the country...
April 6, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28385923/phenotype-of-mutations-in-the-promoter-region-of-the-%C3%AE-globin-gene
#16
Paloma Ropero, Sara Erquiaga, Beatriz Arrizabalaga, Germán Pérez, Silvia de la Iglesia, María José Torrejón, Celia Gil, Cela Elena, María Tenorio, Jorge M Nieto, Félix de la Fuente-Gonzalo, Ana Villegas, Fernando-Ataúlfo González Fernández, Rafael Martínez
BACKGROUND: β(+)-Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age. A total of 37 alterations in the promoter region have been described so far...
April 6, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28385057/a-comprehensive-molecular-investigation-of-%C3%AE-thalassemia-in-an-iranian-cohort-from-different-provinces-of-north-iran
#17
Hajar Eftekhari, Ahmad Tamaddoni, Hassan Mahmoudi Nesheli, Mohsen Vakili, Sadegh Sedaghat, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing...
April 7, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28381468/blood-pressure-and-arterial-stiffness-in-kenyan-adolescents-with-%C3%AE-thalassemia
#18
Anthony O Etyang, Christopher Khayeka-Wandabwa, Sailoki Kapesa, Esther Muthumbi, Emily Odipo, Marylene Wamukoya, Nicholas Ngomi, Tilahun Haregu, Catherine Kyobutungi, Metrine Tendwa, Johnstone Makale, Alex Macharia, J Kennedy Cruickshank, Liam Smeeth, J Anthony G Scott, Thomas N Williams
BACKGROUND: Recent studies have discovered that α-globin is expressed in blood vessel walls where it plays a role in regulating vascular tone. We tested the hypothesis that blood pressure (BP) might differ between normal individuals and those with α(+)thalassemia, in whom the production of α-globin is reduced. METHODS AND RESULTS: The study was conducted in Nairobi, Kenya, among 938 adolescents aged 11 to 17 years. Twenty-four-hour ambulatory BP monitoring and arterial stiffness measurements were performed using an arteriograph device...
April 5, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28378164/computational-evidence-support-the-hypothesis-of-neuroglobin-also-acting-as-an-electron-transfer-species
#19
Licia Paltrinieri, Giulia Di Rocco, Gianantonio Battistuzzi, Marco Borsari, Marco Sola, Antonio Ranieri, Laura Zanetti-Polzi, Isabella Daidone, Carlo Augusto Bortolotti
Neuroglobin (Ngb) is a recently identified hexa-coordinated globin, expressed in the nervous system of humans. Its physiological role is still debated: one hypothesis is that Ngb serves as an electron transfer (ET) species, possibly by reducing cytochrome c and preventing it to initiate the apoptotic cascade. Here, we use the perturbed matrix method (PMM), a mixed quantum mechanics/molecular dynamics approach, to investigate the redox thermodynamics of two neuroglobins, namely the human Ngb and GLB-6 from invertebrate Caenorhabditis elegans...
April 4, 2017: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/28376286/microfluidics-for-investigating-vaso-occlusions-in-sickle-cell-disease
#20
Renita E Horton
Sickle Cell Disease (SCD) stems from a mutation in the beta globin gene. Upon deoxygenation, hemoglobin polymerizes and triggers red blood cell remodeling. This phenomenon is central to SCD pathogenesis as individuals suffering from the disease are plagued by painful vaso-occlusive crises episodes. These episodes are the result of a combination of processes including inflammation, thrombosis, and blood cell adhesion to the vascular wall which leads to blockages within the vasculature termed vaso-occlusions...
April 4, 2017: Microcirculation: the Official Journal of the Microcirculatory Society, Inc
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