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Sarah Wright, Mary Porteous, Diane Stirling, Oliver Young, Charlie Gourley, Nina Hallowell
Changes in the nature and structure of healthcare pathways have implications for healthcare professionals' jurisdictional boundaries. The introduction of treatment focused BRCA1 and 2 genetic testing (TFGT) for newly diagnosed patients with breast cancer offers a contemporary example of pathway change brought about by technological advancements in gene testing and clinical evidence, and reflects the cultural shift towards genomics. Forming part of an ethnographically informed study of patient and practitioner experiences of TFGT at a UK teaching hospital, this paper focuses on the impact of a proposal to pilot a mainstreamed TFGT pathway on healthcare professionals' negotiations of professional jurisdiction...
February 13, 2019: Social Science & Medicine
Shengnan Kong, Qiaozhen Ke, Lin Chen, Zhixiong Zhou, Fei Pu, Ji Zhao, Huaqiang Bai, Wenzhu Peng, Peng Xu
The large yellow croaker (Larimichthys crocea) is the most economically important marine cage-farming fish in China in the past decade. However, the sustainable development of large yellow croaker aquaculture has been severely hampered by several diseases, of which, the white spot disease caused by ciliate protozoan parasite Cryptocaryon irritans ranks the most damaging disease in large yellow croaker cage farms. To better understand the genetic basis of parasite infection and disease resistance to C. irritans, it is vital to map the traits and localize the underlying candidate genes in L...
February 19, 2019: Marine Biotechnology
Hadi Zare Marzouni, Reza Farid-Hosseini, Farahzad Jabari-Azad, Jalil Tavakkol-Afshari, Farahnaz Tehranian, Maryam Khoshkhui, Amin Reza Nikpoor, Mojgan Mohammadi
Introduction: Allergic Rhinitis (AR) is a common inflammatory disease of the nasal mucosa. The CD14 is a receptor for lipopolysaccharide and inhaled endotoxin which can stimulate the production of interleukins by antigen presenting cells. Accordingly, CD14 plays an important role in allergic and atopic diseases, which can be one of the etiological factors for allergic diseases. The present study investigated the association between the CD14 gene polymorphism C-159T and AR and aimed to detect the correlation between serum levels of CD14 and AR...
January 2019: Iranian Journal of Otorhinolaryngology
Magdalena Kroc, Grzegorz Koczyk, Katarzyna A Kamel, Katarzyna Czepiel, Olga Fedorowicz-Strońska, Paweł Krajewski, Joanna Kosińska, Jan Podkowiński, Paulina Wilczura, Wojciech Święcicki
Unravelling the biosynthetic pathway of quinolizidine alkaloids (QAs), regarded as antinutritional compounds of narrow-leafed lupin (NLL) seeds, is fundamental to best exploit NLL as food or feed. We investigated 12 candidate genes connected to QA biosynthesis, selecting them by transcriptomic and genomic approaches, from the landscape of genes differentially expressed in leaves of the high- and low-alkaloid NLL accessions. Linkage analysis enabled the assessment of the location of the candidate genes in relation to iucundus, a major locus of unknown identity, that confers reduced QA content in seeds...
February 19, 2019: Scientific Reports
Agnès B Jousset, Saoussen Oueslati, Sandrine Bernabeu, Julie Takissian, Elodie Creton, Anaïs Vogel, Aimie Sauvadet, Garance Cotellon, Lauraine Gauthier, Rémy A Bonnin, Laurent Dortet, Thierry Naas
In Enterobacter cloacae complex (ECC), the over-production of the chromosome-encoded cephalosporinase (cAmpC) associated with decreased outer membrane permeability may result in carbapenem resistance. Here, we have characterized ACT-28, a cAmpC with weak carbapenemase activity, from a single Enterobacter kobei lineage. ECC clinical isolates were characterized by whole genome sequencing (WGS), susceptibility testing, minimal inhibitory concentration and carbapenemase activity was monitored using diverse carbapenem hydrolysis methods...
February 19, 2019: Antimicrobial Agents and Chemotherapy
Ben D Fulcher, John D Murray, Valerio Zerbi, Xiao-Jing Wang
The primate cerebral cortex displays a hierarchy that extends from primary sensorimotor to association areas, supporting increasingly integrated function underpinned by a gradient of heterogeneity in the brain's microcircuits. The extent to which these hierarchical gradients are unique to primate or may reflect a conserved mammalian principle of brain organization remains unknown. Here we report the topographic similarity of large-scale gradients in cytoarchitecture, gene expression, interneuron cell densities, and long-range axonal connectivity, which vary from primary sensory to prefrontal areas of mouse cortex, highlighting an underappreciated spatial dimension of mouse cortical specialization...
February 19, 2019: Proceedings of the National Academy of Sciences of the United States of America
Sumita Jain, Ana M Chang, Manjot Singh, Jeffrey S McLean, Stephen R Coats, Roger W Kramer, Richard P Darveau
Removal of one acyl chain from bacterial lipid A by deacylase activity is a mechanism used by many pathogenic bacteria to evade the host's Toll-like receptor 4 (TLR4)-mediated innate immune response. In Porphyromonas gingivalis , a periodontal pathogen, lipid A deacylase activity converts a majority of the initially synthesized penta-acylated lipid A, a TLR4 agonist, to tetra-acylated structures, which effectively evade TLR4 sensing by being either inert or antagonistic at TLR4. In this paper, we report successful identification of the gene that encodes the P...
February 19, 2019: Journal of Bacteriology
Yusuke Adachi, Takekuni Hayashi, Takeshi Mitsuhashi, Kenichi Sakakura, Yoko Yamada, Yuko Wada, Minoru Horie, Shin-Ichi Momomura, Hideo Fujita
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized by fibrofatty replacement and ventricular arrhythmias. ARVC is believed to be a disease of the young, with most cases being diagnosed before the age of 40 years. We report here a case of newly diagnosed ARVC in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene (PKP2). CASE PRESENTATION: An 80-year-old Japanese man was referred for sustained ventricular tachycardia...
February 19, 2019: BMC Cardiovascular Disorders
Yao Chen, Yanyan Hu, Zhenju Song
BACKGROUND: This article intends to explore the association between interleukin-6 gene (IL-6) -174 G/C single nucleotide polymorphism (SNP) and the risk and mortality of sepsis by conducting this updated meta-analysis with trial sequential analysis. METHODS: References were made to PubMed, Web of Science, China National Knowledge Infrastructure for studies available by September 2018. Each publication was screened for its eligibility and data accessible. Statistical analysis was conducted on Stata 14...
February 19, 2019: BMC Medical Genetics
Man Zhao, Wenyi Wang, Lei Wei, Peng Chen, Li Peng, Zhen Qin, Fengjie Yuan, Zhao Wang, Xiangxian Ying
Unsaturated fatty acids are the main components of vegetable oils. Fatty acid desaturase 2 (FAD2) catalyzes oleic acid (OA) into linoleic acid (LA) transformations, which are essential to the profile of FAs in seeds. To further understand the roles of FAD2s in the synthesis of oil, the evolution and biocatalysis of FAD2s were comprehensively analyzed. The evolution history of the FAD2 gene family showed that most of the FAD2 genes formed monophyletic clades except in eudicots. The FAD2 genes in some eudicots diverged into constitutive and seed-specific expression clades...
February 15, 2019: International Journal of Molecular Sciences
Thi Dao Dinh, Jacob Njaramba Ngatia, Liang Yu Cui, Yue Ma, Thomas D Dhamer, Yan Chun Xu
Species identification is fundamental to wildlife forensic practice. The desirability of molecular genetic methods is increasing rapidly. The sequence of a marker, rather than its particular diagnostic nucleotides, provides greater safety through comparisons between intra- and inter-specific pairwise genetic distances. However, it has not been well described how reliability of species assignment is influenced by distance computing methods and reference sample sizes. In this study, the influences were tested using 12 species from 4 genera of passerine birds and the sequences of partial Cytochrome b (Cyt b) and Cytochrome Oxidase subunit I (COI) genes...
February 13, 2019: Forensic Science International. Genetics
Sari Rytkönen, Jarmo Ritari, Juha Peräsaari, Ville Saarela, Matti Nuutinen, Timo Jahnukainen
BACKGROUND: Tubulointerstitial nephritis (TIN) and uveitis syndrome (TINU) are likely to be autoimmune diseases. Based on previous studies, adults with isolated idiopathic uveitis have polymorphisms in interleukin 10 (IL-10) and tumor necrosis factor α (TNF-α) genes. We aimed to evaluate the presence of IL-10 and TNF-α polymorphisms in a nationwide cohort of pediatric TIN/TINU patients. METHODS: Single nucleotide polymorphisms in IL-10 (+434T/C, +504G/T, -1082G/A, -2849C/T) and in TNFα (-308G/A, -238G/A, -857C/T) genes were genotyped in 30 well-defined pediatric patients with idiopathic TIN/TINU syndrome...
2019: PloS One
Shouchuan Jiang, Nini Zhou, Yufeng Li, Jiahui An, Tianhao Chang
Porcine circovirus 3 (PCV3), a recently discovered virus, has spread widely in pigs throughout the world. In order to investigate the possibility of mice used to study the infection of PCV3, commercially sourced Balb/C and ICR mice were screened for PCV3 infection. Blood samples were collected from 20 mice (10 each of Balb/c and ICR), DNA was extracted, and subjected to PCR with PCV3 specific primers. We found all 20 serum samples tested positive for PCV3 DNA. From four mice, the complete genomes of PCV3 were amplified and sequenced, and a phylogenetic tree was constructed...
February 19, 2019: Veterinary Medicine and Science
Da Wei Huang, Moez Dawood, Calvin A Johnson, Roland Schmitz
High-throughput mRNA sequencing (RNA-Seq) provides both qualitative and quantitative evaluation of the transcriptome. This method uses complementary DNA (cDNA) to generate several millions of short sequence reads that are aligned to a reference genome allowing the comprehensive characterization of the transcripts in a cell. RNA-Seq has a wide variety of applications which lead to a pervasive adoption of this method well beyond the genomics community and a deployment of this technique as a standard part of the toolkit applied in life sciences...
2019: Methods in Molecular Biology
Yaoyao Li, Xiguo Yuan, Junying Zhang, Liying Yang, Jun Bai, Shan Jiang
BACKGROUND: Copy number variation (CNV) is an important form of genomic structural variation and is linked to dozens of human diseases. Using next-generation sequencing (NGS) data and developing computational methods to characterize such structural variants is significant for understanding the mechanisms of diseases. OBJECTIVE: The objective of this study is to develop a new statistical method of detection recurrent CNVs across multiple samples from genomic sequences...
February 18, 2019: Genes & Genomics
Nicole E Wheeler, Timothy Blackmore, Angela D Reynolds, Anne C Midwinter, Jonathan Marshall, Nigel P French, Matthew S Savoian, Paul P Gardner, Patrick J Biggs
Campylobacter jejuni is the most common cause of bacterial diarrheal disease in the world. Clinical outcomes of infection can range from asymptomatic infection to life-threatening extraintestinal infections. This variability in outcomes for infected patients has raised questions as to whether genetic differences between C. jejuni isolates contribute to their likelihood of causing severe disease. In this study, we compare the genomes of ten C. jejuni isolates that were implicated in extraintestinal infections with reference gastrointestinal isolates, in order to identify unusual patterns of sequence variation associated with infection outcome...
February 19, 2019: Microbial Genomics
Satnam Singh, Mridula Gupta, Suneet Pandher, Gurmeet Kaur, Neha Goel, Pankaj Rathore, Subba Reddy Palli
BACKGROUND: Thrips tabaci is a severe pest of onion and cotton. Due to lack of information on its genome or transcriptome, not much is known about this insect at the molecular level. To initiate molecular studies in this insect, RNA was sequenced; de novo transcriptome assembly and analysis were performed. The RNAseq data was used to identify reference and RNAi pathway genes in this insect. Additionally, feeding RNAi was demonstrated in T. tabaci for the first time. RESULTS: From the assembled transcriptome, 27,836 coding sequence (CDS) with an average size of 1236 bp per CDS were identified...
February 18, 2019: BMC Molecular Biology
Misuzu Ueki, Haruo Takeshita, Junko Fujihara, Kaori Kimura-Kataoka, Reiko Iida, Toshihiro Yasuda
Recently it has been recognized that a considerable number of copy number variations (CNVs) are associated with diseases and other complex human traits. In our previous study, we developed a simple quantitative real-time PCR (Q-PCR) method for analysis of CNV copy number, which had the advantage of obviating the need for reference DNA with a known copy number. Using DNA samples obtained from 231 Japanese individuals, we applied this method for analyzing the copy number of a candidate CNV associated with body height, located in the neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase (NEDD4L) gene...
February 11, 2019: Legal Medicine
Subhashini Arimilli, Patrudu Makena, Gang Liu, G L Prasad
Cigarette smoking exerts diverse physiological effects including immune suppression. To better characterize the biological effects of different categories of tobacco products, a genome-wide gene expression study was performed. Transcriptomic profiling was performed in PBMCs treated with different equi-nicotine units of aqueous extracts of cigarette smoke (termed Whole Smoke-Conditioned Medium, or WS-CM), or a single dose smokeless tobacco extract (STE) prepared from reference tobacco products. WS-CM induced dose-dependent changes in the expression of several genes...
February 15, 2019: Toxicology in Vitro: An International Journal Published in Association with BIBRA
Rongxia Li, Xuenan Mi, Shujun Yang, Yunyun Yang, Shuyuan Zhang, Rutai Hui, Yu Chen, Weili Zhang
The role of angiotensin II (Ang II) in hypertension has been clarified, but recent studies show that aging-associated arterial changes and those with hypertension as well as atherosclerosis may have some common pathogenesis. This study aimed to clarify the effects of Ang II on endothelial senescence by establishing a replicative senescence model of human umbilical vein endothelial cells (HUVECs) in vitro. The population-doubling level (PDL) was calculated, PDL5 and PDL25 respectively referred to cells cultured for 2 days and 30 days...
February 15, 2019: Experimental Gerontology
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