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https://www.readbyqxmd.com/read/29145541/variations-in-adipor1-but-not-adipor2-are-associated-with-hypertriglyceridemia-and-diabetes-in-an-admixed-latin-american-population
#1
Gustavo Gustavo Mora-García, María S Ruiz-Díaz, Fabian Espitia-Almeida, Doris Gómez-Camargo
BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial...
July 2017: Review of Diabetic Studies: RDS
https://www.readbyqxmd.com/read/29145455/association-of-polymorphisms-in-heat-shock-protein-70-genes-with-the-susceptibility-to-noise-induced-hearing-loss-a-meta-analysis
#2
Shimin Zong, Xue Zeng, Tianyi Liu, Fangmin Wan, Pan Luo, Hongjun Xiao
BACKGROUND: Several case-control studies reported the relationship between single nucleotide polymorphisms (SNPs) in HSP70 genes and noise-induced hearing loss (NIHL). However, their conclusions are conflicting. This meta-analysis aims to identify the association of HSP70 variants and NIHL susceptibility. METHOD: A systematical literature search was performed in PubMed, Web of Science, EMBASE, and Wanfang Chinese database. The pooled odds radio (OR), 95% confidence interval (CI) and p value were calculated in fixed- or random-effects model according to the I2 value in the heterogeneity test...
2017: PloS One
https://www.readbyqxmd.com/read/29145122/the-myo-inositol-proton-symporter-iolt1-contributes-to-d-xylose-uptake-in-corynebacterium-glutamicum
#3
Christian Brüsseler, Andreas Radek, Niklas Tenhaef, Karin Krumbach, Stephan Noack, Jan Marienhagen
Corynebacterium glutamicum has been engineered to utilize d-xylose as sole carbon and energy source. Recently, a C. glutamicum strain has been optimized for growth on defined medium containing d-xylose by laboratory evolution, but the mutation(s) attributing to the improved-growth phenotype could not be reliably identified. This study shows that loss of the transcriptional repressor IolR is responsible for the increased growth performance on defined d-xylose medium in one of the isolated mutants. Underlying reason is derepression of the gene for the glucose/myo-inositol permease IolT1 in the absence of IolR, which could be shown to also contribute to d-xylose uptake in C...
November 1, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/29144452/ubiquitination-and-degradation-of-gbps-by-a-shigella-effector-to-suppress-host-defence
#4
Peng Li, Wei Jiang, Qin Yu, Wang Liu, Ping Zhou, Jun Li, Junjie Xu, Bo Xu, Fengchao Wang, Feng Shao
Interferon-inducible guanylate-binding proteins (GBPs) mediate cell-autonomous antimicrobial defences. Shigella flexneri, a Gram-negative cytoplasmic free-living bacterium that causes bacillary dysentery, encodes a repertoire of highly similar type III secretion system effectors called invasion plasmid antigen Hs (IpaHs). IpaHs represent a large family of bacterial ubiquitin-ligases, but their function is poorly understood. Here we show that S. flexneri infection induces rapid proteasomal degradation of human guanylate binding protein-1 (hGBP1)...
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29144014/translocation-of-precision-polymers-through-biological-nanopores
#5
Mordjane Boukhet, Niklas Felix König, Abdelaziz Al Ouahabi, Gerhard Baaken, Jean-François Lutz, Jan C Behrends
Nanopore analysis, which is, currently, chiefly used for DNA sequencing, is also an appealing technique for characterizing abiotic polymers. As a first step toward this goal, nanopore detection of non-natural monodispersed poly(phosphodiester)s as candidate backbone structures is reported herein. Two model homopolymers containing phosphopropyl repeat units (i.e., 56 or 104 r.u.) and a short thymidine nucleotide sequence are analyzed in the present work. They are tested in two different biological nanopores, α-hemolysin from Staphylococcus aureus, and aerolysin from Aeromonas hydrophila...
November 16, 2017: Macromolecular Rapid Communications
https://www.readbyqxmd.com/read/29143920/distinguishing-the-disease-associated-snps-based-on-composition-frequency-analysis
#6
Wenling Li, Menglong Li, Xuemei Pu, Yanzhi Guo
Single-nucleotide polymorphism (SNP) is a basical variation in genome. When SNPs occur at the binding sites of microRNA, they can influence the binding efficiency, cause a fluctuation of the mRNA in vivo, and thus arouse posttranscriptional level abnormality. Therefore, SNP has a strong correlation with diseases. Although enormous SNPs have been experimentally identified, only a tiny proportion of them are truly disease-associated SNPs (dSNPs) that relate to microRNA modification and then are involved in disease causing process...
November 16, 2017: Interdisciplinary Sciences, Computational Life Sciences
https://www.readbyqxmd.com/read/29143727/characterization-of-clinically-isolated-thymidine-dependent-small-colony-variants-of-escherichia-coli-producing-extended-spectrum-%C3%AE-lactamase
#7
Tatsuya Negishi, Takehisa Matsumoto, Kazuki Horiuchi, Eriko Kasuga, Tatsuya Natori, Mina Matsuoka, Naoko Ogiwara, Mitsutoshi Sugano, Takeshi Uehara, Noriyuki Nagano, Takayuki Honda
PURPOSE: Thymidine-dependent small-colony variants (TD-SCVs) are difficult to detect or test for antimicrobial susceptibility. We investigated the characteristics of clonal TD-SCVs of Escherichia coli, both with and without blaCTX-M-3, isolated from a patient. METHODOLOGY: Mutation in the thyA gene was analysed by sequencing, and morphological abnormalities in the colonies and cells of the isolates were examined. Additionally, conjugational transfer experiments were performed to prove the horizontal transferability of plasmids harbouring resistance genes...
November 16, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/29143708/genome-wide-association-study-for-growth-traits-in-nelore-cattle
#8
A P N Terakado, R B Costa, G M F de Camargo, N Irano, T Bresolin, L Takada, C V D Carvalho, H N Oliveira, R Carvalheiro, F Baldi, L G de Albuquerque
The objective of this study was to investigate the association of single nucleotide polymorphisms (SNPs) with birth weight, weight gain from birth to weaning and from weaning to yearling, yearling height and cow weight in Nelore cattle. Data from 5064 animals participating in the DeltaGen and PAINT breeding programs were used. The animals were genotyped with a panel of 777 962 SNPs (Illumina BovineHD BeadChip) and 412 993 SNPs remained after quality control analysis of the genomic data. A genome-wide association study was performed using a single-step methodology...
November 16, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29143610/development-of-f1-hybrid-population-and-the-high-density-linkage-map-for-european-aspen-populus-tremula-l-using-radseq-technology
#9
Anatoly V Zhigunov, Pavel S Ulianich, Marina V Lebedeva, Peter L Chang, Sergey V Nuzhdin, Elena K Potokina
BACKGROUND: Restriction-site associated DNA sequencing (RADseq) technology was recently employed to identify a large number of single nucleotide polymorphisms (SNP) for linkage mapping of a North American and Eastern Asian Populus species. However, there is also the need for high-density genetic linkage maps for the European aspen (P. tremula) as a tool for further mapping of quantitative trait loci (QTLs) and marker-assisted selection of the Populus species native to Europe. RESULTS: We established a hybrid F1 population from the cross of two aspen parental genotypes diverged in their phenological and morphological traits...
November 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29143598/gwas-for-plant-growth-stages-and-yield-components-in-spring-wheat-triticum-aestivum-l-harvested-in-three-regions-of-kazakhstan
#10
Yerlan Turuspekov, Aida Baibulatova, Kanat Yermekbayev, Laura Tokhetova, Vladimir Chudinov, Grigoriy Sereda, Martin Ganal, Simon Griffiths, Saule Abugalieva
BACKGROUND: Spring wheat is the largest agricultural crop grown in Kazakhstan with an annual sowing area of 12 million hectares in 2016. Annually, the country harvests around 15 million tons of high quality grain. Despite environmental stress factors it is predicted that the use of new technologies may lead to increases in productivity from current levels of 1.5 to up to 3 tons per hectare. One way of improving wheat productivity is by the application of new genomic oriented approaches in plant breeding projects...
November 14, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/29142551/association-of-single-nucleotide-missence-polymorphism-val109asp-of-omentin-1-gene-and-coronary-artery-disease-in-pakistani-population-multicenter-study
#11
Shazia Nazar, Sitwat Zehra, Abid Azhar
Background & Objective: Coronary artery disease (CAD) is a most important cause of morbidity and mortality worldwide as well as in Pakistan. Recent studies have shown that the combination of obesity, insulin resistance and fluctuation in circulating adipocytokines levels is associated with the pathogenesis of coronary artery disease. Omentin-1 is recently found adipocytokine that is highly expressed in visceral adipose tissue. It has anti- inflammatory properties and is negatively correlated with ischemic heart disease...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142418/marantodes-pumilum-blume-kuntze-inhibited-secretion-of-lipopolysaccharide-and-monosodium-urate-crystal-stimulated-cytokines-and-plasma-prostaglandin-e2
#12
Eldiza Puji Rahmi, Jamia Azdina Jamal, Endang Kumolosasi, Juriyati Jalil, Nor-Ashila Aladdin
Background: Marantodes pumilum is traditionally used for dysentery, gonorrhea, and sickness in the bones. Previous studies revealed its antibacterial and xanthine oxidase inhibitory activities. Objective: To evaluate the inhibitory effects of three M. pumilum varieties on the secretion of lipopolysaccharide (LPS)- and monosodium urate crystal (MSU)-induced cytokines and plasma prostaglandin E2 (PGE2) in vitro. Materials and Methods: The leaves and roots of M...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29141672/a-novel-git2-braf-fusion-in-pilocytic-astrocytoma
#13
Jeffrey Helgager, Hart G Lidov, Navin R Mahadevan, Mark W Kieran, Keith L Ligon, Sanda Alexandrescu
BACKGROUND: KIAA1549-BRAF fusion is the most common genetic event in pilocytic astrocytoma (PA), and leads to activation of the mitogen activated protein kinase (MAPK) signaling pathway. Fusions of BRAF with other partner genes, as well as other genetic alterations not involving BRAF but also leading to MAPK pathway activation have been described rarely. CASE PRESENTATION: We present a new fusion partner in the low-grade glioma of a 10-year-old male, who presented with headaches and recent episodes of seizures...
November 15, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29140456/minimotif-miner-4-a-million-peptide-minimotifs-and-counting
#14
Kenneth F Lyon, Xingyu Cai, Richard J Young, Abdullah-Al Mamun, Sanguthevar Rajasekaran, Martin R Schiller
Minimotif Miner (MnM) is a database and web system for analyzing short functional peptide motifs, termed minimotifs. We present an update to MnM growing the database from ∼300 000 to >1 000 000 minimotif consensus sequences and instances. This growth comes largely from updating data from existing databases and annotation of articles with high-throughput approaches analyzing different types of post-translational modifications. Another update is mapping human proteins and their minimotifs to know human variants from the dbSNP, build 150...
November 11, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29138903/next-generation-sequencing-to-identify-candidate-genes-and-develop-diagnostic-markers-for-a-novel-phytophthora-resistance-gene-rpshc18-in-soybean
#15
Chao Zhong, Suli Sun, Yinping Li, Canxing Duan, Zhendong Zhu
A novel Phytophthora sojae resistance gene RpsHC18 was identified and finely mapped on soybean chromosome 3. Two NBS-LRR candidate genes were identified and two diagnostic markers of RpsHC18 were developed. Phytophthora root rot caused by Phytophthora sojae is a destructive disease of soybean. The most effective disease-control strategy is to deploy resistant cultivars carrying Phytophthora-resistant Rps genes. The soybean cultivar Huachun 18 has a broad and distinct resistance spectrum to 12 P. sojae isolates...
November 14, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29138304/refactoring-the-genetic-code-for-increased-evolvability
#16
Gur Pines, James D Winkler, Assaf Pines, Ryan T Gill
The standard genetic code is robust to mutations during transcription and translation. Point mutations are likely to be synonymous or to preserve the chemical properties of the original amino acid. Saturation mutagenesis experiments suggest that in some cases the best-performing mutant requires replacement of more than a single nucleotide within a codon. These replacements are essentially inaccessible to common error-based laboratory engineering techniques that alter a single nucleotide per mutation event, due to the extreme rarity of adjacent mutations...
November 14, 2017: MBio
https://www.readbyqxmd.com/read/29138009/human-papillomavirus-hpv-infection-in-females-with-normal-cervical-cytology-genotyping-and-phylogenetic-analysis-among-women-in-punjab-pakistan
#17
Hafsa Aziz, Huma Iqbal, Humera Mahmood, Shazia Fatima, Muhammad Faheem, Areej Abdul Sattar, Sobia Tabassum, Sanum Napper, Syeda Batool, Nuzhat Rasheed
OBJECTIVE: Cervical cancer is the fourth most common cancer in the world, seventh overall with account for an estimated 300,000 annual deaths. HPV is the second most common cause of cervical cancer worldwide. HPV screening is not a common practice in Pakistan. The present study aims to determine the prevalence of HPV and HPV types in females with normal cytology of cervix in Upper and Lower region of Punjab Pakistan and analyze the risk factors for HPV in this region. METHOD: In this study, we performed PCR analysis for 1011 female patients with normal cytology of cervix from various districts in Punjab Province, Pakistan and risk factors for acquisition of HPV were studied...
November 11, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/29137381/gene-expression-and-molecular-pathway-activation-signatures-of-mycn-amplified-neuroblastomas
#18
Ivan Petrov, Maria Suntsova, Elena Ilnitskaya, Sergey Roumiantsev, Maxim Sorokin, Andrew Garazha, Pavel Spirin, Timofey Lebedev, Nurshat Gaifullin, Sergey Larin, Olga Kovalchuk, Dmitry Konovalov, Vladimir Prassolov, Alexander Roumiantsev, Anton Buzdin
Neuroblastoma is a pediatric cancer arising from sympathetic nervous system. Remarkable heterogeneity in outcomes is one of its widely known features. One of the traits strongly associated with the unfavorable subtype is the amplification of oncogene MYCN. Here, we performed cross-platform biomarker detection by comparing gene expression and pathway activation patterns from the two literature reports and from our experimental dataset, combining profiles for the 761 neuroblastoma patients with known MYCN amplification status...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137376/impact-of-vegfa-polymorphisms-on-glioma-risk-in-chinese
#19
Peng Zhao, Anjing Chen, Qichao Qi, Wenjing Zhou, Zichao Feng, Jiwei Wang, Ning Yang, Xingang Li, Jian Wang, Qibing Huang, Bin Huang
Several single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor A (VEGFA) gene have been previously reported to be associated with glioma susceptibility, but individual studies have demonstrated inconclusive results. In the current study, a meta-analysis was performed to derive a more precise estimation of the involvement of VEGFA polymorphisms in glioma development. A comprehensive literature search conducted in PubMed, Embase, the Cochrane Library, and OVID databases through February 25, 2017 yielded 4 eligible studies consisting of 2,275 cases and 2,475 controls...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#20
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
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