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https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#1
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805222/heme-isomers-substantially-affect-heme-s-electronic-structure-and-function
#2
Kasper P Kepp
Inspection of heme protein structures in the protein data bank reveals four isomers of heme characterized by different relative orientations of the vinyl side chains; remarkably, all these have been reported in multiple protein structures. Density functional theory computations explain this as due to similar energy of the isomers but with a sizable (25 kJ mol(-1)) barrier to interconversion arising from restricted rotation around the conjugated bonds. The four isomers, EE, EZ, ZE, and ZZ, were then investigated as 4-coordinate hemes, as 5-coordinate deoxyhemes, in 6-coordinate O2-adducts of globins and as compound I intermediates typical of heme peroxidases...
August 14, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28800727/a-phased-snp-based-classification-of-sickle-cell-anemia-hbb-haplotypes
#3
Elmutaz M Shaikho, John J Farrell, Abdulrahman Alsultan, Hatem Qutub, Amein K Al-Ali, Maria Stella Figueiredo, David H K Chui, Lindsay A Farrer, George J Murphy, Gustavo Mostoslavsky, Paola Sebastiani, Martin H Steinberg
BACKGROUND: Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28798140/the-hemoglobin-homolog-cytoglobin-in-smooth-muscle-inhibits-apoptosis-and-regulates-vascular-remodeling
#4
Frances L Jourd'heuil, Haiyan Xu, Timothy Reilly, Keneta McKellar, Chaymae El Alaoui, Julia Steppich, Yong Feng Liu, Wen Zhao, Roman Ginnan, David Conti, Reynold Lopez-Soler, Arif Asif, Rebecca K Keller, John J Schwarz, Le Thi Thanh Thuy, Norifumi Kawada, Xiaochun Long, Harold A Singer, David Jourd'heuil
OBJECTIVE: The role of hemoglobin and myoglobin in the cardiovascular system is well established, yet other globins in this context are poorly characterized. Here, we examined the expression and function of cytoglobin (CYGB) during vascular injury. APPROACH AND RESULTS: We characterized CYGB content in intact vessels and primary vascular smooth muscle (VSM) cells and used 2 different vascular injury models to examine the functional significance of CYGB in vivo. We found that CYGB was strongly expressed in medial arterial VSM and human veins...
August 10, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28795619/hematological-and-molecular-characterization-of-a-novel-hb-a2-variant-with-homozygous-%C3%AE-thalassemia-2-in-a-southern-thai-individual
#5
Manit Nuinoon, Nutjaree Jeenduang, Aumpika Kesornsit, Dararat Horpet, Thunyaluk Plyduang
We report here the hematological and molecular features of a novel δ-globin chain variant found in a Southern Thai woman. Her complete blood count was as follows: red blood cell (RBC) count 5.90 × 10(12)/L, hemoglobin concentration (Hb) 12.6 g/dL, packed cell volume (PCV) 0.41 L/L, mean corpuscular volume (MCV) 69.5 fL, mean corpuscular Hb (MCH) 21.4 pg, mean corpuscular Hb concentration (MCHC) 30.7 g/dL and RBC distribution width (RDW) 13.1%. The blood smear demonstrated microcytic hypochromic RBCs suggestive of thalassemia trait...
August 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28794124/phenotypic-evaluations-of-hbb-c-93-23t-c-a-nucleotide-substitution-in-the-ivs-i-nt-108-of-%C3%AE-globin-gene
#6
Margherita Vinciguerra, Filippo Cassarà, Monica Cannata, Disma Renda, Giuseppina Calvaruso, Filippo Leto, Cristina Passarello, Aurelio Maggio, Antonino Giambona
BACKGROUND: Thalassaemia and variant haemoglobin are the most common severe monogenic disorders worldwide. AIMS: To develop prenatal diagnosis programmes for the prevention of the most important haemoglobin disorders and identify healthy carriers of thalassaemia. METHODS: Sequencing analysis was used to obtain complete data on gene structure and to correlate specific phenotypic expression with mutations, especially for new or very rare mutations in globin genes...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28792538/the-importance-of-conserved-amino-acids-in-heme-based-globin-coupled-diguanylate-cyclases
#7
Xuehua Wan, Jennifer A Saito, James S Newhouse, Shaobin Hou, Maqsudul Alam
Globin-coupled diguanylate cyclases contain globin, middle, and diguanylate cyclase domains that sense O2 to synthesize c-di-GMP and regulate bacterial motility, biofilm formation, and virulence. However, relatively few studies have extensively examined the roles of individual residues and domains of globin-coupled diguanylate cyclases, which can shed light on their signaling mechanisms and provide drug targets. Here, we report the critical residues of two globin-coupled diguanylate cyclases, EcGReg from Escherichia coli and BpeGReg from Bordetella pertussis, and show that their diguanylate cyclase activity requires an intact globin domain...
2017: PloS One
https://www.readbyqxmd.com/read/28791912/coinheritance-of-high-oxygen-affinity-hb-helsinki-hbb-c-248a-t-%C3%AE-82-ef6-lys%C3%A2-met-with-hb-h-disease
#8
Shir-Ying Lee, Jia-Hui Goh, Karen M L Tan, Te-Chih Liu
Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] is a high oxygen affinity hemoglobin (Hb) causing polycythemia, whereas Hb H (β4) disease causes mild to severe chronic hemolytic anemia. The clinical characteristics, gel electrophoresis, capillary electrophoresis (CE) and molecular genotyping of a case of Hb Helsinki coinherited with Hb H disease in an ethnic Malay is described, illustrating the interaction between the β-globin variant and coinheritance of three α gene deletions. The proband was asymptomatic, exhibited microcytosis and a normal with Hb value...
August 9, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28791910/a-novel-31-1%C3%A2-kb-%C3%AE-thalassemia-deletion-mex3-found-in-a-mexican-family
#9
Víctor M Rentería-López, Francisco J Perea-Díaz, Lourdes C Rizo-delaTorre, Josefina Y Sánchez-López, Bertha Ibarra-Cortés
α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -(MEX3) (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably originated from non homologous recombination between two Alu sequences; the 5' Alu element has been involved in at least two other α-thal deletions [- -(FIL) (NG_000006.1: g.11684_43534del) and - -(KOL)] and possesses a core homologous sequence next to the - -(MEX3) breakpoint...
August 9, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28791595/high-resolution-melting-analysis-for-prenatal-diagnosis-of-beta-thalassemia-in-northern-thailand
#10
Pimlak Charoenkwan, Supatra Sirichotiyakul, Arunee Phusua, Sudjai Suanta, Kanda Fanhchaksai, Rattika Sae-Tung, Torpong Sanguansermsri
High-resolution melting (HRM) analysis is a rapid mutation analysis which assesses the pattern of reduction of fluorescence signal after subjecting the amplified PCR product with saturated fluorescence dye to an increasing temperature. We used HRM analysis for prenatal diagnosis of beta-thalassemia disease in northern Thailand. Five PCR-HRM protocols were used to detect point mutations in five different segments of the beta-globin gene, and one protocol to detect the 3.4 kb beta-globin deletion. We sought to characterize the mutations in carriers and to enable prenatal diagnosis in 126 couples at risk of having a fetus with beta-thalassemia disease...
August 8, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28777854/-a-novel-double-heterozygote-of-hbb-c-219t-a-220g-t-gene-diagnosis-and-pedigree-analysis
#11
Jiezhong Lv, Zhaofan Luo, Jianpei Fang, Tao Du, Hongman Xue, Yong Liu, Jianping Zhang
OBJECTIVE: To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing. METHODS: EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28776729/sirt1-activates-the-expression-of-fetal-hemoglobin-genes
#12
Yan Dai, Tyngwei Chen, Heba Ijaz, Elizabeth H Cho, Martin H Steinberg
High fetal hemoglobin (HbF, α2 γ2 ) levels ameliorate the clinical manifestations of sickle cell disease and β thalassemia. The mechanisms that repress HbF expression and silence γ-globin genes in adults are incompletely characterized and only a single HbF inducer, hydroxyurea, is approved for treatment, and only in patients with sickle cell disease. We identified SIRT1, a protein deacetylase, as a new inducer of γ-globin. SIRT1 knockdown decreased, while SIRT1 ectopic expression upregulated γ-globin gene (HBG) expression in primary human erythroid cells and in K562 cells...
August 4, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28774922/ube2o-is-a-quality-control-factor-for-orphans-of-multiprotein-complexes
#13
Kota Yanagitani, Szymon Juszkiewicz, Ramanujan S Hegde
Many nascent proteins are assembled into multiprotein complexes of defined stoichiometry. Imbalances in the synthesis of individual subunits result in orphans. How orphans are selectively eliminated to maintain protein homeostasis is poorly understood. Here, we found that the conserved ubiquitin-conjugating enzyme UBE2O directly recognized juxtaposed basic and hydrophobic patches on unassembled proteins to mediate ubiquitination without a separate ubiquitin ligase. In reticulocytes, where UBE2O is highly up-regulated, unassembled α-globin molecules that failed to assemble with β-globin were selectively ubiquitinated by UBE2O...
August 4, 2017: Science
https://www.readbyqxmd.com/read/28774900/ube2o-remodels-the-proteome-during-terminal-erythroid-differentiation
#14
Anthony T Nguyen, Miguel A Prado, Paul J Schmidt, Anoop K Sendamarai, Joshua T Wilson-Grady, Mingwei Min, Dean R Campagna, Geng Tian, Yuan Shi, Verena Dederer, Mona Kawan, Nathalie Kuehnle, Joao A Paulo, Yu Yao, Mitchell J Weiss, Monica J Justice, Steven P Gygi, Mark D Fleming, Daniel Finley
During terminal differentiation, the global protein complement is remodeled, as epitomized by erythrocytes, whose cytosol is ~98% globin. The erythroid proteome undergoes a rapid transition at the reticulocyte stage; however, the mechanisms driving programmed elimination of preexisting cytosolic proteins are unclear. We found that a mutation in the murine Ube2o gene, which encodes a ubiquitin-conjugating enzyme induced during erythropoiesis, results in anemia. Proteomic analysis suggested that UBE2O is a broad-spectrum ubiquitinating enzyme that remodels the erythroid proteome...
August 4, 2017: Science
https://www.readbyqxmd.com/read/28774421/thalassaemia
#15
REVIEW
Ali T Taher, David J Weatherall, Maria Domenica Cappellini
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and β-thalassaemia, including the co-inheritance of β-thalassaemia with haemoglobin E resulting in haemoglobin E/β-thalassaemia, have been described. The disease hallmarks include imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic haemolytic anaemia, compensatory haemopoietic expansion, hypercoagulability, and increased intestinal iron absorption...
July 31, 2017: Lancet
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#16
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28770911/targeting-%C3%AE-cys93-in-hemoglobin-s-with-an-antisickling-agent-possessing-dual-allosteric-and-antioxidant-effects
#17
Tigist Kassa, Michael Brad Strader, Akito Nakagawa, Warren M Zapol, Abdu I Alayash
Sickle cell disease (SCD) is an inherited blood disorder caused by a β globin gene mutation of hemoglobin (HbS). The polymerization of deoxyHbS and its subsequent aggregation (into long fibers) is the primary molecular event which leads to red blood cell (RBC) sickling and ultimately hemolytic anemia. We have recently suggested that HbS oxidative toxicity may also contribute to SCD pathophysiology due to its defective pseudoperoxidase activity. As a consequence, a persistently higher oxidized ferryl heme is formed which irreversibly oxidizes "hotspot" residues (particularly βCys93) causing protein unfolding and subsequent heme loss...
August 3, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#18
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28768505/tough-decoy-targeting-of-predominant-let-7-mirna-species-in-adult-human-hematopoietic-cells
#19
Jaira F de Vasconcellos, Colleen Byrnes, Y Terry Lee, Joshua M Allwardt, Megha Kaushal, Antoinette Rabel, Jeffery L Miller
BACKGROUND: In humans, the heterochronic cascade composed of the RNA-binding protein LIN28 and its major target, the let-7 family of microRNAs (miRNAs), is highly regulated during human erythroid ontogeny. Additionally, down-regulation of the let-7 miRNAs in cultured adult CD34(+) cells or the over-expression of LIN28 in cultured erythrocytes from pediatric patients with HbSS genotype causes increased levels of fetal hemoglobin (HbF) in the range of 19-40% of the total. Therefore, we hypothesized that focused targeting of individual let-7 miRNA family members would exhibit regulatory effect on HbF expression in human adult erythroblasts...
August 2, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28768465/interaction-between-hb-e-and-hb-yala-hbb-c-129delt-a-novel-frameshift-beta-globin-gene-mutation-resulting-in-hemoglobin-e-%C3%AE-0-thalassemia
#20
Supachai Ekwattanakit, Suchada Riolueang, Vip Viprakasit
OBJECTIVES: There are more than 200 known mutations found in patients with β-thalassemia, a possibility to identify an unknown or novel mutation becomes less possible. Here, we report a novel mutation in a patient from Thailand who presented with chronic hemolytic anemia. METHODS: A comprehensive hematology and DNA analysis was applied in the index patient and her mother. RESULTS: Hematological and hemoglobin analyses were consistent with the clinical diagnosis of Hb E/β(0)-thalassemia...
August 3, 2017: Hematology (Amsterdam, Netherlands)
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