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H L Qu, D D Guo, T Xu, Z Li, J Yin, X P Tian, D Q Kong, X M Zhu, L Y Miao, D P Wu, X W Tang
Objective: To evaluate the effects of CYP2C19 genetic polymorphism on the plasma concentration of voriconazole in patients with hematological disease and the value of serial monitoring plasma concentrations in the treatment and prevention of invasive fungal disease (IFD). Methods: From January 2016 to December 2016, 65 hematological patients who received voriconazole intravenous administration for the treatment of invasive fungal disease were enrolled in this study. The population CYP2C19 polymorphism of voriconazole were performed using PCR-Pyrosequencing...
March 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
W Chen, M Jing, Q Zhang, R Yuan, S Jing
BACKGROUND: Several observational studies have investigated interleukin-18 (IL-18) gene polymorphisms with regard to susceptibility to hepatitis C virus (HCV) infection, but the results have been inconsistent. AIM: To evaluate the relationships between functional polymorphisms in the IL-18 gene and an individual's susceptibility to HCV infection, a meta-analysis was performed. Methods: A literature search was conducted using the PubMed, EMBASE, Web of Science and China BioMedicine databases to investigate the correlation between IL-18 gene polymorphisms and susceptibility to HCV infection...
January 2018: Acta Gastro-enterologica Belgica
Suresh Venkateswaran, Jarod Prince, David J Cutler, Urko M Marigorta, David T Okou, Sampath Prahalad, David Mack, Brendan Boyle, Thomas Walters, Anne Griffiths, Cary G Sauer, Neal LeLeiko, David Keljo, James Markowitz, Susan S Baker, Joel Rosh, Marian Pfefferkorn, Melvin B Heyman, Ashish Patel, Anthony Otley, Robert Baldassano, Joshua Noe, Paul Rufo, Maria Oliva-Hemker, Sonia Davis, Michael E Zwick, Greg Gibson, Lee A Denson, Jeffrey Hyams, Subra Kugathasan
Background: The genetic contributions to pediatric onset ulcerative colitis (UC), characterized by severe disease and extensive colonic involvement, are largely unknown. In adult onset UC, Genome Wide Association Study (GWAS) has identified numerous loci, most of which have a modest susceptibility risk (OR 0.84-1.14), with the exception of the human leukocyte antigen (HLA) region on Chromosome 6 (OR 3.59). Method: To study the genetic contribution to exclusive pediatric onset UC, a GWAS was performed on 466 cases with 2099 healthy controls using UK Biobank array...
March 19, 2018: Inflammatory Bowel Diseases
Lorraine A O'Reilly, Tracy L Putoczki, Lisa A Mielke, Jun T Low, Ann Lin, Adele Preaudet, Marco J Herold, Kelvin Yaprianto, Lin Tai, Andrew Kueh, Guido Pacini, Richard L Ferrero, Raffi Gugasyan, Yifang Hu, Michael Christie, Stephen Wilcox, Raelene Grumont, Michael D W Griffin, Liam O'Connor, Gordon K Smyth, Mathias Ernst, Paul Waring, Steve Gerondakis, Andreas Strasser
Polymorphisms in NFKB1 that diminish its expression have been linked to human inflammatory diseases and increased risk for epithelial cancers. The underlying mechanisms are unknown, and the link is perplexing given that NF-κB signaling reportedly typically exerts pro-tumorigenic activity. Here we have shown that NF-κB1 deficiency, even loss of a single allele, resulted in spontaneous invasive gastric cancer (GC) in mice that mirrored the histopathological progression of human intestinal-type gastric adenocarcinoma...
March 20, 2018: Immunity
Dale I Godfrey, Jérôme Le Nours, Daniel M Andrews, Adam P Uldrich, Jamie Rossjohn
Most studies on the immunotherapeutic potential of T cells have focused on CD8 and CD4 T cells that recognize peptide antigens (Ag) presented by polymorphic major histocompatibility complex (MHC) class I and MHC class II molecules, respectively. However, unconventional T cells, which interact with MHC class Ib and MHC-I like molecules, are also implicated in tumor immunity, although their role therein is unclear. These include unconventional T cells targeting MHC class Ib molecules such as HLA-E and its murine ortholog Qa-1b, natural killer T (NKT) cells, mucosal associated invariant T (MAIT) cells, and γδ T cells...
March 20, 2018: Immunity
Abolfazl Namazi, Mohammad Forat-Yazdi, Mohammadali Jafari, Soudabeh Farahnak, Rezvan Nasiri, Elnaz Foroughi, Seyed Mojtaba Abolbaghaei, Hossein Neamatzadeh
BACKGROUND: The promoter -1082 A/G (rs1800896) polymorphism of Interleukin-10 (IL-10) gene have been widely reported and considered to have a significant role on gastric cancer risk, but the results are inconsistent. OBJECTIVE: To clarify the association, we conducted a meta-analysis to investigate the associations IL-10 -1082 A/G polymorphism with gastric cancer. METHODS: Eligible articles were identified by searching databases including PubMed, Web of Science, and Google Scholar up to August 03, 2017...
January 2018: Arquivos de Gastroenterologia
Xiaowei Wu, Changxin Li, Jinming Mao, Ling Li, Yan Liu, Yao Hou
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations...
March 15, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
Jian Zeng, Dorian Garrick, Jack Dekkers, Rohan Fernando
Genomic prediction exploits single nucleotide polymorphisms (SNPs) across the whole genome for predicting genetic merit of selection candidates. In most models for genomic prediction, e.g. BayesA, B, C, R and GBLUP, independence of SNP effects is assumed. However, SNP effects are expected to be locally dependent given the presence of a nearby QTL because SNPs surrounding the QTL do not segregate independently. A consequence of ignoring this dependence is that SNPs with small effects may be overly shrunk, e...
2018: PloS One
João Paulo Limongi França Guilherme, Mariana Sussi Silva, Rômulo Bertuzzi, Antonio Herbert Lancha Junior
The main purpose of this study was to investigate if the rs11091046 (A>C) polymorphism in AGTR2 gene is associated with athletic status in top-level athletes from Brazil. Since the AGTR2 gene is located on the X chromosome, the case-control association study was done separately for women and men. The female cohort was composed of 205 athletes and 241 non-athletes, and the male cohort was composed of 419 athletes and 490 non-athletes. We did not identify an association between the C-allele and the endurance phenotype...
March 21, 2018: Journal of Sports Sciences
Simon D Kloß, Andreas Weis, Sophia Wandelt, Wolfgang Schnick
We describe the oxonitridophosphates M1- x PO3+4 x N1-4 x ( x ≈ 0.05) and the isotypic oxophosphates M0.75 PO4 ( M = Zr, Hf) obtained by high-pressure metathesis. The structures (ZrSiO4 -type, space group I41 / amd (no. 141), a = 6.5335(7)-6.6178(12), c = 5.7699(7)-5.8409(9) Å, Z = 4) were refined from single-crystal X-ray diffraction data, and the powder samples were examined with quantitative Rietveld refinement. Infrared spectroscopy did not indicate the presence of X-H ( X = O, N) bonds. The optical band gaps, between 3...
March 21, 2018: Inorganic Chemistry
Xiaoyue Zhu, Liying Jiang, Yihua Lu, Chunli Wang, Shuai Zhou, He Wang, Tian Tian
OBJECTIVE: Several human studies have been conducted to explore the association between aspirin (ASPN) D-repeat polymorphisms and OA susceptibility, but these provide inconsistent results. Our primary aim is to examine whether D-repeat polymorphisms are related to OA risk. METHODS: We conducted a meta-analysis to investigate the association between ASPN D-repeat polymorphisms and OA. Electronic database was searched, including PubMed, Embase, CNKI, Ovid, and the reference lists of relevant articles published from the inception to January 24, 2018...
March 2018: Medicine (Baltimore)
Lihong Wang, Chih-Hsin Tang, Tingting Lu, Yi Sun, Guohong Xu, Chien-Chung Huang, Shun-Fa Yang, Chen-Ming Su
Rheumatoid arthritis (RA) is a chronic systemic inflammatory disease. To date, the specific mechanisms that drive RA disease remain unknown and provide the impetus for genetic investigations into the development of RA. Researchers hope to identify gene polymorphisms that could serve as treatment targets in patients with RA. We have previously suggested that the gene encoding the pro-inflammatory adipokine resistin (RETN) may correlate with RA development. In this report, we sought to determine whether selected RETN single nucleotide polymorphisms (SNPs) are associated with RA susceptibility and clinicopathological characteristics...
March 2018: Medicine (Baltimore)
Julien Ramade, Léon Marcel Andriambariarijaona, Violette Steinmetz, Nicolas Goubet, Laurent Legrand, Thierry Barisien, Frédérick Bernardot, Christophe Testelin, Emmanuel Lhuillier, Alberto Bramati, Maria Chamarro
All inorganic CsPbX3 (X = Cl, Br, I) nanocrystals (NCs) belong to the novel class of confined metal-halide perovskites which are currently arousing enthusiasm and stimulating huge activity across several fields of optoelectronics due to outstanding properties. A deep knowledge of the band-edge excitonic properties of these materials is thus crucial to further optimize their performances. Here, high-resolution photoluminescence (PL) spectroscopy of single bromide-based NCs reveals the exciton fine structure in the form of sharp peaks that are linearly polarized and grouped in doublets or triplets, which directly mirror the adopted crystalline structure, tetragonal (D4h symmetry) or orthorhombic (D2h symmetry)...
March 21, 2018: Nanoscale
V N Shishkova, T V Adasheva, A Yu Remenik, V N Valyaeva, V M Shklovsky
AIM: To study the relationship between clinical-anthropometric, biochemical, metabolic, vascular-inflammatory, molecular-genetic parameters and the development of the first ischemic stroke, and to develop a prognostic model for determining the probability of its occurrence. MATERIAL AND METHODS: The study included 196 first ischemic stroke patients and 119 healthy people matched for age, place of residence and nationality to the group of patients. The main anthropometric, clinical, biochemical, metabolic parameters and markers of vascular inflammation and endothelial dysfunction were assessed...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Ena Xiao, Qiang Chen, Aaron L Goldman, Hao Yang Tan, Kaitlin Healy, Brad Zoltick, Saumitra Das, Bhaskar Kolachana, Joseph H Callicott, Dwight Dickinson, Karen F Berman, Daniel R Weinberger, Venkata S Mattay
BACKGROUND: We explored the cumulative effect of several late-onset Alzheimer's disease (LOAD) risk loci using a polygenic risk profile score (RPS) approach on measures of hippocampal function, cognition, and brain morphometry. METHODS: In a sample of 231 healthy control subjects (19-55 years of age), we used an RPS to study the effect of several LOAD risk loci reported in a recent meta-analysis on hippocampal function (determined by its engagement with blood oxygen level-dependent functional magnetic resonance imaging during episodic memory) and several cognitive metrics...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
Afaf Elsaid, Rasha Zahran, Rami Elshazli, Ahmed El-Sayed, Marwa Abou Samra, Fatma El-Tarapely, Camelia Abdel-Malak
BACKGROUND: Previous reports demonstrated the role of TP53 gene polymorphisms with CRC risk among several ethnic populations. The purpose of this study is to assess the association of the TP53 Arg72Pro and Pro47Ser variants with CRC risk among Egyptian patients. SUBJECTS AND METHODS: This work was conducted on 120 unrelated CRC Egyptian patients who were compared to 140 healthy controls. DNA was genotyped for these variants using the PCR-RFLP technique. RESULTS: CRC patients observed a significant association of the rare genotype of TP53 Arg72Pro polymorphism compared with healthy controls...
March 21, 2018: Archives of Physiology and Biochemistry
Seyma Katrinli, G Nilay Karatas Erkut, Kamil Ozdil, Feruze Yilmaz Enc, Oguzhan Ozturk, Resul Kahraman, Ilyas Tuncer, Gizem Dinler Doganay, Levent Doganay
AIM: Chronic hepatitis B (CHB) is a global health problem. Recent genome-wide association studies (GWAS) exposed signifi-cant association between the human leukocyte antigen (HLA) class II region, including both DP and DQ loci, and chronic hepatitis B. Previous research also indicated the involvement of adaptive immune system in Hepatitis B seroconversion. The aim of this study is to investigate possible polymorphisms in the HLA-DP locus that can contribute to immune response to Hepatitis B virus (HBV)...
July 2017: Acta Gastro-enterologica Belgica
Vallence Nsabiyera, Harbans S Bariana, Naeela Qureshi, Debbie Wong, Matthew J Hayden, Urmil K Bansal
A new adult plant stripe rust resistance gene, Yr80, was identified in a common wheat landrace Aus27284. Linked markers were developed and validated for their utility in marker-assisted selection. Stripe rust, caused by Puccinia striiformis f. sp. tritici (Pst), is among the most important constraints to global wheat production. The identification and characterisation of new sources of host plant resistance enrich the gene pool and underpin deployment of resistance gene pyramids in new cultivars. Aus27284 exhibited resistance at the adult plant stage against predominant Pst pathotypes and was crossed with a susceptible genotype Avocet S...
March 20, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Xinwei Chen, Dominika Lewandowska, Miles R Armstrong, Katie Baker, Tze-Yin Lim, Micha Bayer, Brian Harrower, Karen McLean, Florian Jupe, Kamil Witek, Alison K Lees, Jonathan D Jones, Glenn J Bryan, Ingo Hein
A broad-spectrum late blight disease-resistance gene from Solanum verrucosum has been mapped to potato chromosome 9. The gene is distinct from previously identified-resistance genes. We have identified and characterised a broad-spectrum resistance to Phytophthora infestans from the wild Mexican species Solanum verrucosum. Diagnostic resistance gene enrichment (dRenSeq) revealed that the resistance is not conferred by previously identified nucleotide-binding, leucine-rich repeat genes. Utilising the sequenced potato genome as a reference, two complementary enrichment strategies that target resistance genes (RenSeq) and single/low-copy number genes (Generic-mapping enrichment Sequencing; GenSeq), respectively, were deployed for the rapid, SNP-based mapping of the resistance through bulked-segregant analysis...
March 20, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Yan Yan, Ai-Ping Deng, Wen Chen, Yu-Hua Ming, Xian-Tao Zeng, Wei-Dong Leng
Background: The human 8-oxoguanine glycosylase 1 ( hOGG1 ) Ser326Cys polymorphism has been involved in the risk of head and neck squamous cell carcinoma (HNSCC), but the results of published studies on this topic still inconsistent. Results: Finally 11 qualified publications with 13 independent case-control studies were yielded. Overall, we observed significant differences in CysCys vs. SerSer [odds ratio (OR) = 1.55, 95% confidence interval (95% CI) = 1.01-2.38] and CysCys vs...
February 27, 2018: Oncotarget
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