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genetic susceptibility

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https://www.readbyqxmd.com/read/29783050/disruption-of-ergosterol-and-tryptophan-biosynthesis-as-well-as-cell-wall-integrity-pathway-and-the-intracellular-ph-homeostasis-lead-to-mono-2-ethylhexyl-phthalate-toxicity-in-budding-yeast
#1
Linghuo Jiang, Litong Wang, Tianshu Fang, Vassilios Papadopoulos
Endocrine disrupting chemicals (EDCs) are substances in the environment, food, and consumer products that interfere with hormone homeostasis, metabolism or reproduction in humans and animals. One such EDC, the plasticizer di-(2-ethylhexyl)-phthalate (DEHP), exerts its function through its principal bioactive metabolite, mono-(2-ethylhexyl)-phthalate (MEHP). To fully understand the effects of MEHP on cellular processes and metabolism as well as to assess the impact of genetic alteration on the susceptibility to MEHP-induced toxicity, we screened MEHP-sensitive mutations on a genome-scale in the eukaryotic model organism Saccharomyces cerevisiae...
May 15, 2018: Chemosphere
https://www.readbyqxmd.com/read/29782964/an-in-vitro-approach-for-prioritization-and-evaluation-of-chemical-effects-on-glucocorticoid-receptor-mediated-adipogenesis
#2
Jessica K Hartman, Tyler Beames, Bethany Parks, Daniel Doheny, Gina Song, Alina Efremenko, Miyoung Yoon, Briana Foley, Chad Deisenroth, Patrick D McMullen, Rebecca A Clewell
Rising obesity rates worldwide have socio-economic ramifications. While genetics, diet, and lack of exercise are major contributors to obesity, environmental factors may enhance susceptibility through disruption of hormone homeostasis and metabolic processes. The obesogen hypothesis contends that chemical exposure early in development may enhance adipocyte differentiation, thereby increasing the number of adipocytes and predisposing for obesity and metabolic disease. We previously developed a primary human adipose stem cell (hASC) assay to evaluate the effect of environmental chemicals on PPARG-dependent adipogenesis...
May 18, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29782842/paraoxonase-1-pon1-l55m-among-common-variants-in-the-coding-region-of-the-paraoxonase-gene-family-may-contribute-to-the-glycemic-control-in-type-2-diabetes
#3
Abdolkarim Mahrooz, Mohammad Bagher Hashemi-Soteh, Masoud Heydari, Ruzbeh Boorank, Fatemeh Ramazani, Ali Mahmoudi, Anvarsadat Kianmehr, Ahad Alizadeh
OBJECTIVE: Genome studies have shown that the genes encoding paraoxonase 1 (PON1) and PON2 are associated with glucose metabolism. The goal of this study was to simultaneously evaluate the association between functional variants in PON1 and PON2 genes and susceptibility for type 2 diabetes (T2D) and determine whether they can affect glycemic control. METHODS: We performed a case-control study with 145 newly diagnosed patients with T2D and 148 controls. The common variants including PON1-Q192R, PON1-L55M and PON2-S311C were genotyped by PCR-based RFLP...
May 18, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29781737/genetic-association-study-between-the-col11a1-and-col18a1-genes-and-high-myopia-in-a-han-chinese-population
#4
Haiyan Wu, Lingxi Jiang, Rui Zheng, Dongyan Luo, Xiaoqi Liu, Fang Hao, Zhilin Jiang, Bo Gong, Zhenglin Yang, Yi Shi
PURPOSE: To evaluate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in collagen, type XI, alpha 1 (COL11A1) and collagen, type XVIII, alpha 1 (COL18A1) genes in a Han Chinese population. MATERIALS AND METHODS: A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software...
May 21, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29781594/-monoclonal-spread-of-multi-drug-resistant-ctx-m-15-producing-klebsiella-pneumoniae-impact-of-measures-to-control-the-outbreak
#5
M A Asencio Egea, M Huertas Vaquero, C Muñoz-Cuevas, J Gaitán Pitera, O Herráez Carrera, P Alcázar Carmona, H D Patiño Ortega, M Franco Huerta, C Román Ortiz, M C Conde García, R Carranza González, J R Barberá, V Bautista Sánchez
OBJECTIVE: To describe an outbreak of multi-drug resistant extended-spectrum β-lactamases-producing Klebsiella pneumoniae (MDR-ESBL-KPN) and the impact of measures for its control. METHODS: We reviewed the patients´ clinical records with MDR-ESBL-KPN isolation during 2013-2016 with resistance to fluoroquinolones, aminoglycosides, fosfomycin, and nitrofurantoin; susceptible to imipenem, meropenem, colistin, and tigecycline and variable to ertapenem and cotrimoxazole (Vitek-2)...
May 18, 2018: Revista Española de Quimioterapia: Publicación Oficial de la Sociedad Española de Quimioterapia
https://www.readbyqxmd.com/read/29781410/the-addition-of-docosahexaenoic-acid-dha-and-antioxidants-glutathione-peroxidase-and-superoxide-dismutase-in-extenders-to-epididymal-sperm-cryopreservation-in-bulls
#6
João D A Losano, Daniel S R Angrimani, Bruno R Rui, Luana C Bicudo, Andressa Dalmazzo, Bárbara C S Silva, Carlos H C Viana, Camilla M Mendes, Mayra E O A Assumpção, Valquiria H Barnabe, Marcilio Nichi
SummaryThe cryopreservation of epididymal sperm is an important technique that allows genetic material to be preserved, even post mortem. However, cryopreservation leads to increased oxidative stress and impaired sperm viability. Polyunsaturated fatty acid (PUFA) supplementation may improve certain sperm characteristics, but it also makes sperm more susceptible to oxidative stress, therefore adding antioxidants that counteract oxidative stress has become an option. In this context, this study aimed to evaluate the effect of the interaction between docosahexaenoic acid (DHA) and antioxidants on the quality after the cryopreservation of epididymal bull sperm...
May 21, 2018: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/29780395/genetic-analysis-of-fusarium-head-blight-resistance-in-cimmyt-bread-wheat-line-c615-using-traditional-and-conditional-qtl-mapping
#7
Xin Yi, Jingye Cheng, Zhengning Jiang, Wenjing Hu, Tongde Bie, Derong Gao, Dongsheng Li, Ronglin Wu, Yuling Li, Shulin Chen, Xiaoming Cheng, Jian Liu, Yong Zhang, Shunhe Cheng
Fusarium head blight (FHB) is a destructive wheat disease present throughout the world, and host resistance is an effective and economical strategy used to control FHB. Lack of adequate resistance resource is still a main bottleneck for FHB genetics and wheat breeding research. The synthetic-derived bread wheat line C615, which does not carry the Fhb1 gene, is a promising source of FHB resistance for breeding. A population of 198 recombinant inbred lines (RILs) produced by crossing C615 with the susceptible cultivar Yangmai 13 was evaluated for FHB response using point and spray inoculations...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29779772/dissecting-whole-genome-sequencing-based-online-tools-for-predicting-resistance-in-mycobacterium-tuberculosis-can-we-use-them-for-clinical-decision-guidance
#8
Rita Macedo, Alexandra Nunes, Isabel Portugal, Sílvia Duarte, Luís Vieira, João Paulo Gomes
Whole-genome sequencing (WGS)-based bioinformatics platforms for the rapid prediction of resistance will soon be implemented in the Tuberculosis (TB) laboratory, but their accuracy assessment still needs to be strengthened. Here, we fully-sequenced a total of 54 multidrug-resistant (MDR) and five susceptible TB strains and performed, for the first time, a simultaneous evaluation of the major four free online platforms (TB Profiler, PhyResSE, Mykrobe Predictor and TGS-TB). Overall, the sensitivity of resistance prediction ranged from 84...
May 2018: Tuberculosis
https://www.readbyqxmd.com/read/29779728/association-between-aldehyde-dehydrogenase-2-glu504lys-polymorphism-and-alcoholic-liver-disease
#9
Binxia Chang, Shuli Hao, Longyu Zhang, Miaomiao Gao, Ying Sun, Ang Huang, Guangju Teng, Baosen Li, David W Crabb, Praveen Kusumanchi, Li Wang, Suthat Liangpunsakul, Zhengsheng Zou
BACKGROUND: Only a subset of patients with excessive alcohol use develop alcoholic liver disease (ALD), though the exact mechanism is not completely understood. Once ingested, alcohol is metabolized by 2 key oxidative enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). There are 2 major ALDH isoforms, cytosolic and mitochondrial, encoded by the aldehyde ALDH1 and ALDH2 genes, respectively. The ALDH2 gene was hypothesized to alter genetic susceptibility to alcohol dependence and alcohol-induced liver diseases...
March 20, 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29779171/carrying-minor-allele-of-fads1-and-haplotype-of-fads1-and-fads2-increased-the-risk-of-metabolic-syndrome-and-moderate-but-not-low-fat-diets-lowered-the-risk-in-two-korean-cohorts
#10
Sunmin Park, Da Sol Kim, Suna Kang
PURPOSE: Delta-5-desaturase (fatty acid desaturase-1, FADS1) and delta-6 desaturase (fatty acid desaturase-2, FADS2), rate-limiting enzymes in the biosynthesis of long-chain polyunsaturated fatty acids, may be associated with the risk of metabolic syndrome (MetS). We investigated how FADS1 rs174547 and FADS2 rs2845573 variants modify the prevalence of MetS and whether the risk is modulated by interactions with dietary fat. METHODS: Genetic, anthropometric, biochemical, and dietary data were collected from the Ansan/Ansung (8842 adults) and City-Rural (5512 adults) cohorts in Korea...
May 19, 2018: European Journal of Nutrition
https://www.readbyqxmd.com/read/29778423/genetic-variants-of-treml2-are-associated-with-hla-b27-positive-ankylosing-spondylitis
#11
Yuan Feng, Yaqiang Hong, Xin Zhang, Chunwei Cao, Xichao Yang, Shujuan Lai, Chunmei Fan, Feng Cheng, Mei Yan, Chaohua Li, Wan Huang, Wei Chen, Ping Zhu, Changqing Zeng
Although ankylosing spondylitis (AS) is a common, highly heritable arthropathy, the precise genetic mechanism underlying the disease remains elusive. Here, we investigate the disease-causing mutations in a large AS family with distinguished complexity, consisting of 23 patients covering four generations and exhibiting a mixed HLA-B27 (+) and (-) status. Linkage analysis with 32 members using three methods and whole-exome sequencing analysis with three HLA-B27 (+) patients, one HLA-B27 (-) patient, and one healthy individual did not identify a mutation common to all of the patients, strongly suggesting the existence of genetic heterogeneity in this large pedigree...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29778191/antimicrobial-susceptibility-and-genetic-relatedness-of-respiratory-tract-pathogens-in-weaner-pigs-over-a-12-month-period
#12
Lisa Niemann, Petra Müller, Jasmin Brauns, Rolf Nathaus, Franziska Schäkel, Kerstin Kipschull, Doris Höltig, Michael Wendt, Stefan Schwarz, Kristina Kadlec
The collaboration project VASIB aims at reducing the antibiotic consumption in pig production by integrating information from consulting expertise in clinical inspection, hygiene, epidemiology, microbiology and pharmacology. In this VASIB subproject, we investigated the antimicrobial susceptibility and relatedness of porcine respiratory tract pathogens. Bordetella bronchiseptica (n = 47), Pasteurella multocida (n = 18) and Streptococcus suis (n = 58) were obtained from weaner pigs at two farms. Antimicrobial susceptibility testing was performed by broth microdilution according to CLSI standards...
June 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/29777385/changes-in-selection-intensity-on-the-mitogenome-of-subterranean-and-fossorial-rodents-respective-to-aboveground-species
#13
William Corrêa Tavares, Hector N Seuánez
Several rodent lineages independently acquired the ability to dig complex networks of tunnels where fossorial and subterranean species spend part or their whole life, respectively. Their underground lifestyles imposed harsh physiological demands, presumably triggering strong selective pressures on genes involved in energy metabolism like those coding for mitochondrial proteins. Moreover, underground lifestyles must have increased inbreeding and susceptibility to population bottlenecks as well as restricted migration, leading to small effective population size (Ne ) that, in turn, must have reduced the effectiveness of selection...
May 18, 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29777376/comprehensive-molecular-diagnosis-of-epstein-barr-virus-associated-lymphoproliferative-diseases-using-next-generation-sequencing
#14
Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio
Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming...
May 18, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29777041/evolving-role-of-diet-in-the-pathogenesis-and-treatment-of-inflammatory-bowel-diseases
#15
REVIEW
Arie Levine, Rotem Sigall Boneh, Eytan Wine
Recent advances in basic and clinical science over the last 3 years have dramatically altered our appreciation of the role of diet in inflammatory bowel diseases (IBD). The marked increase in incidence of these diseases along with the important role of non-genetic susceptibility among patients with IBD has highlighted that these diseases have a strong environmental component. Progress in the field of microbiome and IBD has demonstrated that microbiome appears to play an important role in pathogenesis, and that diet may in turn impact the composition and functionality of the microbiome...
May 18, 2018: Gut
https://www.readbyqxmd.com/read/29776969/identifying-genetic-players-in-cell-sheet-morphogenesis-using-a-drosophila-deficiency-screen-for-genes-on-chromosome-2r-involved-in-dorsal-closure
#16
Richard D Mortensen, Regan P Moore, Stephanie M Fogerson, Hellen Y Chiou, Chimdindu V Obinero, Neel K Prabhu, Angela H Wei, Janice M Crawford, Daniel P Kiehart
Cell sheet morphogenesis characterizes key developmental transitions and homeostasis, in vertebrates and throughout phylogeny, including gastrulation, neural tube formation and wound healing. Dorsal closure, a process during Drosophila embryogenesis, has emerged as a model for cell sheet morphogenesis. ∼140 genes are currently known to affect dorsal closure and new genes are identified each year. Many of these genes were identified in screens that resulted in arrested development. Dorsal closure is remarkably robust and many questions regarding the molecular mechanisms involved in this complex biological process remain...
May 18, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29775752/the-genetics-and-molecular-pathogenesis-of-systemic-lupus-erythematosus-sle-in-populations-of-different-ancestry
#17
REVIEW
George N Goulielmos, Maria I Zervou, Vassilis M Vazgiourakis, Yogita Ghodke-Puranik, Alexandros Garyfallos, Timothy B Niewold
Systemic lupus erythematosus (SLE; OMIM 152700) is a highly heterogeneous disorder, characterized by differences in autoantibody profile, serum cytokines, and a multi-system involvement commonly affecting the skin, renal, musculoskeletal, and hematopoetic systems clinical manifestations involving. Disease features range from mild manifestations, such as rash or arthritis, to life-threatening end-organ manifestations, such as glomerulonephritis or thrombosis, and it is difficult to predict which manifestations will affect a given patient...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29775685/phenotypic-and-genetic-resistance-traits-in-pseudomonas-aeruginosa-strains-infecting-cystic-fibrosis-patients-a-french-cohort-study
#18
Nathalie Courtois, Yvan Caspar, Max Maurin
Pseudomonas aeruginosa is responsible for chronic respiratory tract colonisation and acute exacerbations in cystic fibrosis (CF) patients. This Gram-negative bacterium often develops multidrug resistance, which represents a therapeutic challenge. Our objective was to characterize the phenotypic and genetic β-lactam resistance traits of P. aeruginosa strains isolated from CF patients followed at Grenoble Alpes university hospital. The susceptibility to β-lactam compounds of 123 P. aeruginosa strains collected from the lower respiratory tract of 45 CF patients, between 2010 and 2014, was evaluated...
May 15, 2018: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/29774989/first-report-of-wild-boar-susceptibility-to-porcine-circovirus-type-3-high-prevalence-in-the-colli-euganei-regional-park-italy-in-the-absence-of-clinical-signs
#19
Giovanni Franzo, Claudia Maria Tucciarone, Michele Drigo, Mattia Cecchinato, Marco Martini, Alessandra Mondin, Maria Luisa Menandro
The genus Circovirus includes one of the most relevant infectious agents affecting domestic pigs, Porcine circovirus type 2 (PCV-2). The wild boar susceptibility to this pathogen has also been demonstrated although the actual epidemiological role of wild populations is still debated. In recent times, a new circovirus, Porcine circovirus type 3 (PCV-3), has been discovered and reported in the presence of several clinical conditions. However, no information is currently available about PCV-3 circulation and prevalence in wild boar...
May 18, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29774869/genetic-epidemiology-and-risk-factors-for-brain-tumors
#20
Xuejun Li, Hang Cao, Yanhong Liu
This report summarized current knowledge and findings relevant to environmental and genetic risk factors in brain tumors, with a particular focus on glioma. To date, the established risk factors for brain tumors are family history and ionizing radiation exposure; whereas there is an inverse association between tumors and other factors such as history of allergies, atopic conditions, chickenpox, and varicella zoster virus infection. To identify inherited genetic variants impacting susceptibility of brain tumors, large scale familial linkage-scan pedigree analysis, population-based candidate genes, and genome-wide association study were performed...
April 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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