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https://www.readbyqxmd.com/read/28738659/sample-treatment-in-m%C3%A3-ssbauer-spectroscopy-for-protein-related-analyses-nondestructive-possibilities-to-look-inside-metal-containing-biosystems
#1
Alexander A Kamnev, Anna V Tugarova
In this review, the unique possibilities are considered of the (57)Fe transmission (TMS) and (57)Co emission (EMS) variants of Mössbauer (nuclear γ-resonance) spectroscopy as nondestructive techniques with minimal sample preparation/treatment and a significant analytical potential, with a focus on the analysis of cation-binding sites in metalloproteins. The techniques are shown to provide unique structural and quantitative information on the coordination microenvironment, the chemical state and transformations of the Mössbauer nuclides in sophisticated metal-containing proteins, including those within complicated supramolecular structures, and in microbial cells or tissues...
November 1, 2017: Talanta
https://www.readbyqxmd.com/read/28738478/-less-common-variants-association-study-and-statistical-analysis
#2
X Liao, J Deng, J Y Xun, J X Yan
In the past decade, based on the "common disease-common variant" hypothesis, genomewide association studies (GWAS) have been extensively used to dissect the genetic components of complex diseases and quantitative traits. However, the identified disease-associated common variants by GWASs can only explain small part of the corresponding disease heritability. "Common disease-rare variant" hypothesis has been proposed to explore the missed heritability. With the development of the next generation sequencing technology, various association studies of less common variants are ongoing...
July 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28738464/-analysis-on-risk-factors-for-norovirus-outbreaks-in-guangdong-province-2008-2015
#3
F Yang, L M Sun, H Li, L L Guo, L Fang, X H Tan, Y F Long, C W Ke, J F He
Objective: To analyze transmission factors of norovirus outbreaks in Guangdong province during 2008-2015 and provide evidence for the prevention and control of norovirus infection. Methods: Epidemiological analysis was performed on the data of norovirus outbreaks reported in Guangdong from January 1, 2008 to December 31, 2015, which were obtained from the Public Health Emergency Management Information System of Guangdong province. The samples collected from the norovirus outbreaks were detected for norovirus by RT-PCR and the gene sequencing of the positive PCR products were performed...
July 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28738414/impact-of-amyotrophic-lateral-sclerosis-on-slow-tonic-myofiber-composition-in-human-extraocular-muscles
#4
Anton E Tjust, Adam Danielsson, Peter M Andersen, Thomas Brännström, Fatima Pedrosa Domellöf
Purpose: To analyze the proportion and cross-sectional area of myofibers containing myosin heavy chain slow-twitch (MyHCI) and myosin heavy chain slow tonic (MyHCsto) in extraocular muscles of autopsied amyotrophic lateral sclerosis (ALS) patients with either spinal or bulbar site of disease onset. Methods: Whole-muscle cross sections from the middle portion of the medial rectus were labeled with antibodies against MyHCI or MyHCsto and laminin. Myofibers labeled with the MyHC antibodies (MyHCI+sto) and the total number of myofibers were quantified in the orbital and global layer of 6 control individuals and 18 ALS patients...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28738329/distinct-involvement-of-the-sonic-hedgehog-signaling-pathway-in-gastric-adenocarcinoma-of-fundic-gland-type-and-conventional-gastric-adenocarcinoma
#5
Yuzuru Tajima, Takashi Murakami, Tsuyoshi Saito, Takafumi Hiromoto, Yoichi Akazawa, Noriko Sasahara, Hiroyuki Mitomi, Takashi Yao, Sumio Watanabe
BACKGROUND/AIMS: Gastric adenocarcinoma of fundic gland type (GAFG), which is a rare variant of gastric cancer, is reportedly associated with both Wnt/β-catenin signaling activation and guanine nucleotide binding protein, alpha stimulating complex (GNAS) mutations. This study aimed to elucidate potential roles of the Sonic hedgehog (Shh) signaling pathway in GAFG. METHODS: We performed immunostaining for β-catenin and Shh signal-associated proteins, including Patched (Ptch), Smoothened (Smo), and Glioma-associated oncogene-1 (Gli1), and the direct sequencing of GNAS/BRAF/KRAS in 27 GAFGs, and compared them with 30 conventional gastric adenocarcinomas (CGAs)...
July 22, 2017: Digestion
https://www.readbyqxmd.com/read/28738232/molecular-tools-and-emerging-strategies-for-deep-genetic-genomic-refactoring-of-pseudomonas
#6
REVIEW
Esteban Martínez-García, Víctor de Lorenzo
The interest of the genus Pseudomonas largely relies on the virulence of some of its species for plants and animals (including humans). Yet, pathogenic features of some isolates coexist with others often present in environmental variants that promote plant growth and degrade chemical pollutants. Many of these traits can be traced to the intrinsic properties of the genomic chassis of this genus along with distinct genetic parts and devices. With the tools of Synthetic Biology these can be enhanced and/or repurposed for the sake of biological control, environmental remediation and whole-cell biocatalysis...
July 21, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/28738163/a-local-duplication-of-the-i-melanocortin-receptor-1-i-locus-in-i-astyanax-i
#7
Joshua B Gross, James Weagley, Bethany A Stahl, Li Ma, Luis Espinasa, Suzanne E McGaugh
In this study, we report evidence of a novel duplication of <i>Melanocortin receptor 1 (Mc1r)</i> in the cavefish genome. This locus was discovered following the observation of excessive allelic diversity in a ~820 bp fragment of <i>Mc1r</i> amplified via degenerate PCR from a natural population of <i>Astyanax aeneus</i> fish from Guerrero, Mexico. The cavefish genome reveals the presence of two closely related <i>Mc1r</i> open reading frames separated by a 1...
July 24, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28738155/engineering-aromatic-aromatic-interactions-to-nucleate-folding-in-intrinsically-disordered-regions-of-proteins
#8
Swati Balakrishnan, Siddhartha Peddibhotla Sarma
Aromatic interactions are known to be an important force in protein folding as they combine the stability of a hydrophobic interaction with the selectivity of a hydrogen bond. Much of our understanding of aromatic interactions comes from analyses of protein structures and from the contribution of these interactions to stabilizing secondary structure motifs in model peptides. In this study the structural consequences of aromatic interactions on protein folding have been explored in engineered mutants of the molten globule protein apo - cytochrome b5...
July 24, 2017: Biochemistry
https://www.readbyqxmd.com/read/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#9
Brian W Kunkle, Badri N Vardarajan, Adam C Naj, Patrice L Whitehead, Sophie Rolati, Susan Slifer, Regina M Carney, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Li-San Wang, Lindsay A Farrer, Christiane Reitz, Jonathan L Haines, Gary W Beecham, Eden R Martin, Gerard D Schellenberg, Richard P Mayeux, Margaret A Pericak-Vance
Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare variants contributing to the risk for EOAD. Design, Setting, and Participants: In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28737741/rapidly-inducible-cas9-and-dsb-ddpcr-to-probe-editing-kinetics
#10
John C Rose, Jason J Stephany, William J Valente, Bridget M Trevillian, Ha V Dang, Jason H Bielas, Dustin J Maly, Douglas M Fowler
We developed a chemically inducible Cas9 (ciCas9) and a droplet digital PCR assay for double-strand breaks (DSB-ddPCR) to investigate the kinetics of Cas9-mediated generation and repair of DSBs in cells. ciCas9 is a rapidly activated, single-component Cas9 variant engineered by replacing the protein's REC2 domain with the BCL-xL protein and fusing an interacting BH3 peptide to the C terminus. ciCas9 can be tunably activated by a compound that disrupts the BCL-xL-BH3 interaction within minutes. DSB-ddPCR demonstrates time-resolved, highly quantitative, and targeted measurement of DSBs...
July 24, 2017: Nature Methods
https://www.readbyqxmd.com/read/28737676/high-dose-ascorbate-causes-both-genotoxic-and-metabolic-stress-in-glioma-cells
#11
Maria Leticia Castro, Georgia M Carson, Melanie J McConnell, Patries M Herst
We have previously shown that exposure to high dose ascorbate causes double stranded breaks (DSBs) and a build-up in S-phase in glioblastoma (GBM) cell lines. Here we investigated whether or not this was due to genotoxic stress as well as metabolic stress generated by exposure to high dose ascorbate, radiation, ascorbate plus radiation and H₂O₂ in established and primary GBM cell lines. Genotoxic stress was measured as phosphorylation of the variant histone protein, H2AX, 8-oxo-7,8-dihydroguanine (8OH-dG) positive cells and cells with comet tails...
July 22, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28737576/hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-combined-with-adrenocortical-carcinoma-on-18f-fdg-pet-ct
#12
Xiuyu Guo, Haojun Chen, Hao Fu, Hua Wu
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a recognized distinct phenotypic variant of multiple cutaneous and uterine leiomyomatosis. The present case reports an extremely rare case of HLRCC syndrome combined with adrenocortical carcinoma. The case suggests that HLRCC should be considered in any young patient with bulky uterine leiomyomas and renal cell cancer, and F-FDG PET/CT can help detect unexpected additional primary malignancy in a patient with known cancer.
July 22, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28737528/genetic-variants-of-increased-waist-circumference-in-psychosis
#13
Dzana S Hukic, Urban Ösby, Eric Olsson, Agneta Hilding, Claes-Göran Östenson, Harvest F Gu, Ewa Ehrenborg, Gunnar Edman, Martin Schalling, Catharina Lavebratt, Louise Frisén
OBJECTIVE: We examined whether established metabolic risk genetic variants in the population confer a risk for increased waist circumference in patients with schizophrenia spectrum disorders and also an association with schizophrenia spectrum disorders irrespective of waist circumference. PATIENTS AND METHODS: We analyzed the association in (i) a case-case model in which patients with schizophrenia spectrum disorder with increased waist circumference (≥80 cm for women and ≥94 cm for men) (n=534) were compared with patients with normal waist circumference (<80 cm for women; <94 cm for men) (n=124), and in (ii) a case-control model in which schizophrenia spectrum disorder patients with increased waist circumference or irrespective of waist circumference were compared with population-derived controls (n=494) adjusted for age, sex, fasting glucose, smoking, and family history of diabetes...
July 21, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28737463/prevalence-of-a-new-variant-oxa-204-and-oxa-48-carbapenemases-plasmids-encoded-in-klebsiella-pneumoniae-clinical-isolates-in-tunisia
#14
Rym Ouertani, Mariem Ben Jomàa-Jemili, Haythem Gharsa, Anne Limelette, Thomas Guillard, Lucien Brasme, Christophe de Champs, Chedly Chouchani
Carbapenemase-producing Klebsiella pneumoniae strains have emerged as a major problem for healthcare systems. The aim of this study was to determine the role and diversity of plasmids harboring carbapenemases encoding genes from a collection of K. pneumoniae isolates recovered between July 2011 and January 2012, with decreased susceptibility to carbapenems. Imipenem (IPM), ertapenem (ETP), meropenem (MEM), and doripenem (DOR) minimum inhibitory concentrations (MICs) were determined by E-test. Carbapenemase production was detected with the modified Hodge test...
July 24, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/28737288/linkage-disequilibrium-among-commonly-genotyped-snp-variants-detected-from-bull-sequence
#15
W M Snelling, L A Kuehn, B N Keel, R M Thallman, G L Bennett
Genomic prediction utilizing causal variants could increase selection accuracy above that achieved with SNPs genotyped by currently available arrays used for genomic selection. A number of variants detected from sequencing influential sires are likely to be causal, but noticeable improvements in prediction accuracy using imputed sequence variant genotypes have not been reported. Improvement in accuracy of predicted breeding values may be limited by the accuracy of imputed sequence variants. Using genotypes of SNPs on a high-density array and non-synonymous SNPs detected in sequence from influential sires of a multibreed population, results of this examination suggest that linkage disequilibrium between non-synonymous and array SNPs may be insufficient for accurate imputation from the array to sequence...
July 24, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28737247/a-single-base-deletion-in-the-slc45a2-gene-in-a-bullmastiff-with-oculocutaneous-albinism
#16
M Caduff, A Bauer, V Jagannathan, T Leeb
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism...
July 24, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28737212/a-genome-wide-association-study-for-equine-recurrent-airway-obstruction-in-european-warmblood-horses-reveals-a-suggestive-new-quantitative-trait-locus-on-chromosome-13
#17
D Schnider, S Rieder, T Leeb, V Gerber, M Neuditschko
Recurrent airway obstruction (RAO), also known as heaves, is an asthma-like respiratory disease. Its development is strongly influenced by environmental risk factors such as sensitization and exposure to moldy hay, straw bedding and stabling indoors. A hereditary component has been documented in previous studies; however, so far no causative genetic variant that influences the risk of developing RAO has been identified. In this study, we revised an existing dataset and selected 384 horses for genotyping on the Affymetrix high-density equine SNP array...
July 24, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28736931/genetic-variants-in-hsd17b3-smad3-and-ipo11-impact-circulating-lipids-in-response-to-fenofibrate-in-individuals-with-type-2-diabetes
#18
Daniel M Rotroff, Sonja S Pijut, Skylar W Marvel, John R Jack, Tammy M Havener, Aurora Pujol, Agatha Schluter, Greg A Graf, Henry N Ginsberg, Hetal S Shah, He Gao, Mario-Luca Morieri, Alessandro Doria, Josyf C Mychaleckyi, Howard L McLeod, John B Buse, Michael J Wagner, Alison A Motsinger-Reif
Individuals with type 2 diabetes (T2D) and dyslipidemia are at an increased risk of cardiovascular disease. Fibrates are a class of drugs prescribed to treat dyslipidemia, but variation in response has been observed. To evaluate common and rare genetic variants that impact lipid responses to fenofibrate in statin-treated T2D patients, we examined lipid changes in response to fenofibrate therapy using genome-wide association(GWA). Associations were followed-up using gene expression studies in mice. Common variants in SMAD3 and IPO11 were marginally associated with lipid changes in black subjects(p<5x10(-6) )...
July 24, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28736924/evaluation-of-spiral-acquisition-variants-for-functional-imaging-of-human-superior-colliculus-at-3t-field-strength
#19
Vimal Singh, Josef Pfeuffer, Tiejun Zhao, David Ress
PURPOSE: High-resolution functional magnetic resonance imaging of human subcortical brain structures is challenging because of their deep location in the cranium, and their comparatively weak blood oxygen level dependent responses to strong stimuli. Magnetic resonance imaging data for subcortical brain regions exhibit both low signal-to-noise ratio and low functional contrast-to-noise ratio. To overcome these challenges, this work evaluates the use of dual-echo spiral variants that combine outward and inward trajectories...
July 24, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28736886/size-of-thyroid-carcinoma-by-histotype-and-variants-a-population-based-study-in-a-mildly-iodine-deficient-area
#20
Michela Marina, Gian Paolo Ceda, Luigi Corcione, Paolo Sgargi, Maria Michiara, Enrico Maria Silini, Graziano Ceresini
BACKGROUND: Data relating the size of thyroid cancer with histological types and variants are scarce. METHODS: All incident thyroid cancer diagnosed between 2003 and 2012 in a mildly iodine-deficient area were derived from a population-based tumor registry. Undifferentiated/anaplastic thyroid cancer and incidental cases were excluded. Major diameter of thyroid cancer, as assessed by pathological examination, was stratified in classes: ≤10 mm; 11-20 mm; 21-40 mm; and >40 mm...
July 24, 2017: Head & Neck
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