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https://www.readbyqxmd.com/read/28434122/the-status-of-pulmonary-fibrosis-in-systemic-sclerosis-is-associated-with-irf5-stat4-irak1-and-ctgf-polymorphisms
#1
Wenjie Zhao, Xiaoyang Yue, Kuai Liu, Junfeng Zheng, Runda Huang, Jun Zou, Gabriela Riemekasten, Frank Petersen, Xinhua Yu
Pulmonary fibrosis (PF) is one of the leading causes of death in systemic sclerosis (SSc) patients. Although all SSc patients are characterized by autoimmunity, only part of them suffer from PF, suggesting that beside autoimmunity, some additional factors are involved in the initiation of PF in SSc. In this study, we aimed to identify genetic polymorphisms associated with the status of PF in SSc. We performed that an exhaustive search of the PubMed database was performed to identify eligible studies. Then, a comprehensive meta-analysis was performed by comparing PF(+)-SSc and PF(-)-SSc patients to identify genetic polymorphisms associated with the status of PF in SSc...
April 22, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28434117/associations-of-tim-1-genetic-polymorphisms-with-asthma-a-meta-analysis
#2
Xiaochuan Xie, Xiaohan Shi, Peng Chen, Li Rao
PURPOSE: Recently, the roles of TIM-1 genetic polymorphisms in asthma have been extensively studied, with conflicting results. Therefore, we performed the present meta-analysis to better assess potential associations of TIM-1 genetic polymorphisms with asthma. METHODS: Eligible articles were searched in PubMed, Medline, EMBASE, Google Scholar, and CNKI up to December 2016. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to detect any potential associations between TIM-1 genetic polymorphisms and asthma...
April 22, 2017: Lung
https://www.readbyqxmd.com/read/28433796/genetic-diversity-and-virulence-genes-of-salmonella-enterica-subspecies-enterica-serotype-enteritidis-isolated-from-meats-and-eggs
#3
Fatemeh Fardsanei, Mohammad Mehdi Soltan Dallal, Masoumeh Douraghi, Taghi Zahraei Salehi, Mahmood Mahmoodi, Hamed Memariani, Farhad Nikkhahi
Salmonella enterica subspecies enterica serotype Enteritidis (S. Enteritidis) is one of the leading causes of food-borne gastroenteritis associated with the consumption of contaminated food products of animal origin. Little is known about the genetic diversity and virulence content of S. Enteritidis isolated from poultry meats and eggs in Iran. A total of 34 S. Enteritidis strains were collected from different food sources of animal origin in Tehran from May 2015 to July 2016. All of the S. Enteritidis strains were serotyped, antimicrobial susceptibility tested, and characterized for virulence genes...
April 19, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28433707/genetic-susceptibility-to-toxicologic-lung-responses-among-inbred-mouse-strains-following-exposure-to-carbon-nanotubes-and-profiling-of-underlying-gene-networks
#4
Evan A Frank, Vinicius S Carreira, Kumar Shanmukhappa, Mario Medvedovic, Daniel R Prows, Jagjit S Yadav
The risk of human exposure to fiber nanoparticles has risen in recent years due to increases in the manufacture and utilization of carbon nanotubes (CNTs). CNTs are present as airborne particulates in occupational settings and their hazard potential has been demonstrated in experimental lung exposure studies using inbred mouse strains. However, it is not known whether different inbred strains differ in lung responses to CNTs by virtue of their genetics. In this work, common inbred strains (BALB/c, C57Bl/6, DBA/2, and C3H/He) were exposed to CNTs via oropharyngeal aspiration and lung histology and bronchoalveolar lavage (BAL) samples were evaluated over 28days with the objective of evaluating sensitivity/resistance among strains...
April 19, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28433418/binge-alcohol-alters-pnpla3-levels-in-liver-through-epigenetic-mechanism-involving-histone-h3-acetylation
#5
REVIEW
Ricardo J Restrepo, Robert W Lim, Ronald J Korthuis, Shivendra D Shukla
The human PNPLA3 (patatin-like phospholipase domain-containing 3) gene codes for a protein which is highly expressed in adipose tissue and liver, and is implicated in lipid homeostasis. While PNPLA3 protein contains regions homologous to functional lipolytic proteins, the regulation of its tissue expression is reflective of lipogenic genes. A naturally occurring genetic variant of PNPLA3 in humans has been linked to increased susceptibility to alcoholic liver disease. We have examined the modulatory effect of alcohol on PNPLA3 protein and mRNA expression as well as the association of its gene promoter with acetylated histone H3K9 by chromatin immunoprecipitation (ChIP) assay in rat hepatocytes in vitro, and in vivo in mouse and rat models of acute binge, chronic, and chronic followed by acute binge ethanol administration...
March 12, 2017: Alcohol
https://www.readbyqxmd.com/read/28433409/managing-anthelmintic-resistance-in-parascaris-spp-a-modelling-exercise
#6
Dave M Leathwick, Christian W Sauermann, Thomas Geurden, Martin K Nielsen
A previously described model for the dynamics of the parasitic stages of Parascaris spp. was modified to include eggs outside the host and the genetics of anthelmintic resistance before being used to address questions regarding the development of resistance. Three broad questions were addressed; i) How sustainable is the current common practice of treating foals monthly for their first year of life (i.e. 12 treatments/year)? ii) Does the timing of treatments have an effect on resistance development? (i.e. do certain treatments select for resistance more strongly than others?), and iii) How sustainable is the currently recommended strategy of targeting ascarid infections in foals with two treatments applied during the first five months of life? A range of variations within these broad questions were considered, such as the value in rotational deworming, whether larvicidal treatments are more selective for resistance, and whether combination anthelmintics should be introduced...
March 30, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#7
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432847/genotype-phenotype-correlation-in-paediatric-pheochromocytoma-and-paraganglioma-a-single-centre-experience-from-india
#8
Kranti Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Reshma Pandit, Manjunath Goroshi, Vyankatesh Shivane, Anurag Lila, Tushar Bandgar, Nalini S Shah
BACKGROUND: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort. METHODS: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1)...
April 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28432518/correlation-between-heavy-metal-exposure-and-gstm1-polymorphism-in-iranian-multiple-sclerosis-patients
#9
Mehdi Aliomrani, Mohammad A Sahraian, Hamid Shirkhanloo, Mohammad Sharifzadeh, Mohammad R Khoshayand, Mohammad H Ghahremani
Multiple sclerosis (MS) is an immune-mediated chronic inflammatory disease of the central nervous system. Various exposures to heavy metals can lead to toxicity and oxidative stress. While glutathione-S-transferases are known as oxidative stress-related genes and involved in metal biotransformation. The aim of the present study is to investigate the correlation of GSTM1 polymorphism in MS patients and the possible association with blood concentration of arsenic (As) and cadmium (Cd) as major heavy metal pollutants...
April 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28432358/differential-sensitivity-to-infections-and-antimicrobial-peptide-mediated-immune-response-in-four-silkworm-strains-with-different-geographical-origin
#10
Ottavia Romoli, Alessio Saviane, Andrea Bozzato, Paola D'Antona, Gianluca Tettamanti, Andrea Squartini, Silvia Cappellozza, Federica Sandrelli
The domesticated silkworm Bombyx mori has an innate immune system, whose main effectors are the antimicrobial peptides (AMPs). Silkworm strains are commonly grouped into four geographical types (Japanese, Chinese, European and Tropical) and are generally characterised by a variable susceptibility to infections. To clarify the genetic and molecular mechanisms on which the different responses to infections are based, we exposed one silkworm strain for each geographical area to oral infections with the silkworm pathogens Enterococcus mundtii or Serratia marcescens...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28431891/-vulvovaginal-candidiasis-an-old-disease-with-new-challenges
#11
María Soledad Miró, Emilse Rodríguez, Cecilia Vigezzi, Paula Alejandra Icely, Marcelo Gonzaga de Freitas Araújo, Fernando Oscar Riera, Lara Vargas, Claudio Abiega, Juan Pablo Caeiro, Claudia Elena Sotomayor
Vulvovaginal candidiasis is an old disease that, even in a modern world, continues to have a high incidence. Despite the therapeutic advances, treatments are not always effective, and our understanding of the pathogenesis of this fungal infection is still incomplete. A discussion is presented in this article on the most significant developments related to the fungal virulence factors, the role of the immunological mechanisms involved in the vaginal protection, and the genetic alterations that confer susceptibility to the recurrent form of this mycosis...
April 18, 2017: Revista Iberoamericana de Micología
https://www.readbyqxmd.com/read/28431796/lessons-learned-from-twins-in-autoimmune-and-chronic-inflammatory-diseases
#12
REVIEW
Elena Generali, Angela Ceribelli, Maria Antonietta Stazi, Carlo Selmi
Autoimmunity and chronic inflammation recognize numerous shared factors and, as a result, the resulting diseases frequently coexist in the same patients or respond to the same treatments. Among the convenient truths of autoimmune and chronic inflammatory diseases, there is now agreement that these are complex conditions in which the individual genetic predisposition provides a rate of heritability. The concordance rates in monozygotic and dizygotic twins allows to estimate the weight of the environment in determining disease susceptibility, despite recent data supporting that only a minority of immune markers depend on hereditary factors...
April 18, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28431168/identifying-new-susceptibility-genes-on-dopaminergic-and-serotonergic-pathways-for-the-framing-effect-in-decision-making
#13
Xiaoxue Gao, Jinting Liu, Pingyuan Gong, Junhui Wang, Wan Fang, Hongming Yan, Lusha Zhu, Xiaolin Zhou
The framing effect refers the tendency to be risk-averse when options are presented positively but be risk-seeking when the same options are presented negatively during decision-making. This effect has been found to be modulated by the serotonin transporter gene (SLC6A4) and the catechol-o-methyltransferase gene (COMT) polymorphisms, which are on the dopaminergic and serotonergic pathways and which are associated with affective processing. The current study aimed to identify new genetic variations of genes on dopaminergic and serotonergic pathways that may contribute to individual differences in the susceptibility to framing...
April 19, 2017: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/28430869/inhibition-of-the-p2x7-panx1-complex-suppresses-spreading-depolarization-and-neuroinflammation
#14
Shih-Pin Chen, Tao Qin, Jessica L Seidel, Yi Zheng, Matthias Eikermann, Michel D Ferrari, Arn M J M van den Maagdenberg, Michael A Moskowitz, Cenk Ayata, Katharina Eikermann-Haerter
Spreading depolarization is a wave of neuronal and glial depolarization. Within minutes after spreading depolarization, the neuronal hemichannel pannexin 1 (PANX1) opens and forms a pore complex with the ligand-gated cation channel P2X7, allowing the release of excitatory neurotransmitters to sustain spreading depolarization and activate neuroinflammation. Here, we explore the hypothesis that the P2X7-PANX1 pore complex is a critical determinant of spreading depolarization susceptibility with important consequences for neuroinflammation and trigeminovascular activation...
April 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28430867/emerging-evidence-for-the-role-of-differential-tumor-microenvironment-in-breast-cancer-racial-disparity-a-closer-look-at-the-surroundings
#15
Sachin Kumar Deshmukh, Sanjeev K Srivastava, Nikhil Tyagi, Aamir Ahmad, Ajay P Singh, Ahmed Al Ghadhban, Donna L Dyess, James E Carter, Kari Dugger, Seema Singh
Although increased awareness leading to early detection and prevention, as well as advancements in treatment strategies, have resulted in superior clinical outcomes, African American women with breast cancer continue to have greater mortality rates, compared to Caucasian American counterparts. Moreover, African American women are more likely to have breast cancer at a younger age and be diagnosed with aggressive tumor sub-types. Such racial disparities can be attributed to socioeconomic differences, but it is increasingly being recognized that these disparities may indeed be due to certain genetic and other non-genetic biological differences...
April 18, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28430712/apolipoprotein-e-variants-and-genetic-susceptibility-to-combat-related-post-traumatic-stress-disorder-a-meta-analysis
#16
Yang Roby
BACKGROUND: Apolipoprotein E (APOE) has recently been studied as a risk factor for association with developing combat-related post-traumatic stress disorder (PTSD) in the military population. These studies have yielded inconsistent findings. The present study carried out a meta-analysis to establish whether the APOE polymorphism confers increased susceptibility to combat-related PTSD. METHODS: PubMed, Medline, Embase, PsycInfo, and Google Scholar were searched for potential publications relating to patients with PTSD in military settings with combat exposure...
April 18, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28430673/antimicrobial-resistant-streptococcus-pneumoniae-prevalence-mechanisms-and-clinical-implications
#17
Regine Cherazard, Marcia Epstein, Thien-Ly Doan, Tanzila Salim, Sheena Bharti, Miriam A Smith
BACKGROUND: Streptococcus pneumoniae is a major cause of pneumonia, meningitis, sepsis, bacteremia, and otitis media. S. pneumoniae has developed increased resistance to multiple classes of antibiotics. STUDY DESIGN: Systematic literature review of prevalence, mechanisms, and clinical implications in S. pneumoniae resistance. AREAS OF UNCERTAINTY: Since S. pneumoniae resistance to penicillin was first reported with subsequent development of resistance to other classes of drugs, selection of appropriate antibiotic treatment is challenging...
April 19, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28430664/identification-of-a-novel-pd-l1-positive-solid-tumor-transplantable-in-hla-a-0201-drb1-0101-transgenic-mice
#18
Laurie Rangan, Jeanne Galaine, Romain Boidot, Mohamad Hamieh, Magalie Dosset, Julie Francoual, Laurent Beziaud, Jean-René Pallandre, Elodie Lauret Marie Joseph, Afag Asgarova, Christophe Borg, Talal Al Saati, Yann Godet, Jean Baptiste Latouche, Séverine Valmary-Degano, Olivier Adotévi
HLA-A*0201/DRB1*0101 transgenic mice (A2/DR1 mice) have been developed to study the immunogenicity of tumor antigen-derived T cell epitopes. To extend the use and application of this mouse model in the field of antitumor immunotherapy, we described a tumor cell line generated from a naturally occurring tumor in A2/DR1 mouse named SARC-L1. Histological and genes signature analysis supported the sarcoma origin of this cell line. While SARC-L1 tumor cells lack HLA-DRB1*0101 expression, a very low expression of HLA-A*0201 molecules was found on these cells...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430632/association-analysis-of-apo-gene-polymorphisms-with-ischemic-stroke-risk-a-case-control-study-in-a-chinese-han-population
#19
Rongjun Xiao, Shuaiqi Sun, Jiayi Zhang, Yongri Ouyang, Ning Zhang, Min Yang, Tianbo Jin, Ying Xia
This study aimed to assess the association of APO gene polymorphisms and ischemic stroke risk in a Chinese Han population. In this case-control study, we geno-typed 14 single nucleotide polymorphisms (SNPs) in 3 APO genes in 488 cases and 503 controls using Sequenom Mass-ARRAY technology and evaluated their association with ischemic stroke using the χ2 and genetic model analysis. In the allelic model analysis, we determined three SNPs were significantly associated with ischemic stroke: rs693 with a p value of 0...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430620/genetic-association-between-psa-158g-a-polymorphism-and-the-susceptibility-of-benign-prostatic-hyperplasia-a-meta-analysis
#20
REVIEW
Xin-Jun Su, Xian-Tao Zeng, Cheng Fang, Tong-Zu Liu, Xing-Huan Wang
Inconsistency between reported findings on the association of prostate specific antigen (PSA) gene -158G/A polymorphism with benign prostatic hyperplasia (BPH) susceptibility need a meta-analysis to obtain a more accurate conclusion. A systematic search was conducted in electronic databases for the collection of eligible studies on PSA -158G/A polymorphism and BPH susceptibility. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were then calculated. 7 case-control studies with 758 cases and 752 controls were included into the present meta-analysis...
February 16, 2017: Oncotarget
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