Genetic Risk Prediction for Normal-Karyotype Acute Myeloid Leukemia Using Whole-Exome Sequencing by Seong Gu Heo, Eun Pyo Hong, Ji Wan Park

“…We identified 21 nonsynonymous single nucleotide variants (SNVs) located in a coding region of 18 genes. …”
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A lethal disease of the European bison – posthitis is conditionally determined by its genomics by Sazia Kunvar, Sylwia Czarnomska, Cino Pertoldi, Astrid V. Stronen, Iwona Ruczyńska, Małgorzata Tokarska

“…In this study, we applied deep coverage targeted sequencing to 74 regions on 10 of the bison’s chromosomes (1, 9, 12, 13, 15, 23, 25, 26, 29, and X) in search for species-specific single nucleotide polymorphism (SNP) markers that could help to explain the mechanism of the disease and be used to test for posthitis susceptibility. …”
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Rs9939609 Variant of the Fat Mass and Obesity-Associated Gene and Trunk Obesity in Adolescents by Harald Mangge, Wilfried Renner, Gunter Almer, Daniel Weghuber, Reinhard Möller, Renate Horejsi

“…To investigate the genetic background of early obesity, we analysed the single nucleotide polymorphism (SNP) rs9939609 of FTO in 371 styrian adolescents towards degree of obesity, subcutaneous adipose tissue (SAT)-distribution determined by lipometry, early metabolic and preatherosclerotic symptoms. …”
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Cannabinoid Receptor 1 Gene Polymorphisms and Nonalcoholic Fatty Liver Disease in Women with Polycystic Ovary Syndrome and in Healthy Controls by Justyna Kuliczkowska Plaksej, Lukasz Laczmanski, Andrzej Milewicz, A. Lenarcik-Kabza, Anna Trzmiel-Bira, Urszula Zaleska-Dorobisz, Felicja Lwow, Lidia Hirnle

“…Hepatic steatosis was assessed by ultrasound evaluation. Single nucleotide polymorphisms of CNR1 (rs806368, rs12720071, rs1049353, rs806381, rs10485170, rs6454674) were genotyped. …”
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Cysteinyl Leukotriene Receptor-1 Antagonists as Modulators of Innate Immune Cell Function by A. J. Theron, H. C. Steel, G. R. Tintinger, C. M. Gravett, R. Anderson, C. Feldman

“…Underlying mechanisms include interference with cyclic nucleotide phosphodiesterases, 5′-lipoxygenase, and the proinflammatory transcription factor, nuclear factor kappa B. …”
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Genomic Analysis of a Serotype 5 Streptococcus pneumoniae Outbreak in British Columbia, Canada, 2005–2009 by Ruth R. Miller, Morgan G. I. Langille, Vincent Montoya, Anamaria Crisan, Aleksandra Stefanovic, Irene Martin, Linda Hoang, David M. Patrick, Marc Romney, Gregory Tyrrell, Steven J. M. Jones, Fiona S. L. Brinkman, Patrick Tang

“…The sequences were analyzed for single nucleotide variants (SNVs) and putative genomic islands. …”
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Simulating Molecular Interactions of Carbon Nanoparticles with a Double-Stranded DNA Fragment by Zhuang Wang, Hao Fang, Se Wang, Fan Zhang, Degao Wang

“…Moreover, C60, DWNT, and GOQD bind to the dsDNA molecules at the minor groove of the nucleotide, and C70, SWNT, and GQD bind to the dsDNA molecules at the hydrophobic ends. …”
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Aquaporin 12 Is Expressed in the Stomach and Liver of the Spiny Dogfish (<i>Squalus acanthias</i>) by Christopher P. Cutler, Jade Bender, Sarah Conner, Esosa Omoregie

“…The sequence of Aquaporin 12 (AQP12) cDNA was amplified from spiny dogfish (<i>Squalus acanthias</i>) cDNAs using degenerate PCR, followed by 5′ and 3′ RACE PCR. The AQP12 nucleotide sequence had an open reading frame of 300 amino acids, which included one or more N-glycosylation sites. …”
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A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Gra... by Massimo Buscema, Silvana Penco, Enzo Grossi

“…In this pilot case-control study single nucleotide polymorphism (SNP) in several genes has been evaluated with a novel data mining approach based on an AutoCM. …”
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Major Histocompatibility Class II Pathway Is Not Required for the Development of Nonalcoholic Fatty Liver Disease in Mice by Gilles Willemin, Catherine Roger, Armelle Bauduret, Kaori Minehira

“…Single-nucleotide polymorphisms within major histocompatibility class II (MHC II) genes have been associated with an increased risk of drug-induced liver injury. …”
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NCK2 Is Significantly Associated with Opiates Addiction in African-Origin Men by Zhifa Liu, Xiaobo Guo, Yuan Jiang, Heping Zhang

“…Most of the GWAS discoveries were only based on single nucleotide polymorphisms (SNPs) and a single dichotomized outcome. …”
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Association between Genetic Instability and Helicobacter pylori Infection in Gastric Epithelial Dysplasia by Jin Su Kim, Woo Chul Chung, Kang-Moon Lee, Chang Nyol Paik, Kyeong Soo Lee, Hye Ji Kim, Young Wook Kim, Ji Han Jung, Seung June Noh, Yun Kyung Lee

“…In gastric carcinogenesis, changes of DNA methylation appear to be an early molecular event, and the genome-wide methylation state is closely correlated with the level of long interspersed nucleotide element-1 (LINE-1) methylation. In this study, we measured LINE-1 methylation level according to genetic instability and evaluated the effect of Helicobacter pylori infection on genetic instability in gastric epithelial dysplasia. …”
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Modern approaches to production of safe and effective genetically modified rabies vaccines for animals by M. I. Doronin, A. Mazloum, D. V. Mikhalishin, M. N. Mitrofanova, A. Yu. Sukharkov, V. V. Kiseleva, A. V. Sprygin

“…It provides new approaches to study functions of a specific gene by analyzing phenotypic effects after direct manipulations with nucleotide sequences. The methods of reverse genetics have revolutionized molecular biology and have become apowerful tool to study genetics of RNA viruses. …”
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The Stability of a Model Substrate for Topoisomerase 1-Mediated DNA Religation Depends on the Presence of Mismatched Base Pairs by William H. Gmeiner, Freddie Salsbury, Chris M. Olsen, Luis A. Marky

“…These results provide a biophysical rationale for the inhibition of Top1-mediated DNA religation by nucleotide analog substitution.…”
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Naturally Occurring Hepatitis B Virus B-Cell and T-Cell Epitope Mutants in Hepatitis B Vaccinated Children by Yu-Min Lin, Guey-Mei Jow, Shu-Chi Mu, Bing-Fang Chen

“…HBV serum markers, including hepatitis B surface antigen (HBsAg) and antibodies to HBsAg (anti-HBs) and core antigen (anti-HBc), were detected by ELISA. Nucleotide sequences encoding the S and the pre-S regions of HBsAg were analyzed in all HBsAg positive sera. …”
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Performance Comparison of Two Gene Set Analysis Methods for Genome-wide Association Study Results: GSA-SNP vs i-GSEA4GWAS by Ji-sun Kwon, Jihye Kim, Dougu Nam, Sangsoo Kim

“…We compared the performance of two different GSA implementations that accept GWAS p-values of single nucleotide polymorphisms (SNPs) or gene-by-gene summaries thereof, GSA-SNP and i-GSEA4GWAS, under the same settings of inputs and parameters. …”
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Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer by Marco Capezzone, Maja Rossi, Elisabetta Macerola, Silvia Cantara, Francesco Pepe, Eugenia Maria Morabito, Gilda Dalmazio, Sara Bardi, Agostino Ognibene, Massimo Alessandri, Gabriele Materazzi, Luigi De Napoli, Michele Cirianni, Liborio Torregrossa

“…BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance. …”
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Phosphodiesterase Type 5 Inhibitors in Male Reproduction: Molecular Mechanisms and Clinical Implications for Fertility Management by Aris Kaltsas, Fotios Dimitriadis, Athanasios Zachariou, Nikolaos Sofikitis, Michael Chrisofos

“…This narrative review integrates current evidence from in vitro studies, animal models, and clinical research to clarify the roles of PDEs in effecting the male reproductive tract, with an emphasis on the mechanistic pathways underlying cyclic nucleotide signaling, the cellular specificity of PDE isoform expression, and the effects of PDE5 inhibitors on Leydig and Sertoli cell functions. …”
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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

“…Our results expand the compendium of SOX5 damaging single-nucleotide variation mutations and suggest that SOX5 haploinsufficiency might not be restrictively associated with childhood-onset syndromic disease.…”
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Cytochrome P450 Metabolism of Betel Quid-Derived Compounds: Implications for the Development of Prevention Strategies for Oral and Pharyngeal Cancers by Che-Yi Lin, Tien-Szu Pan, Chun-Chan Ting, Shih-Shin Liang, Shu-Hung Huang, Hsiu-Yueh Liu, Edward Cheng-Chuan Ko, Chung-Wei Wu, Jen-Yang Tang, Ping-Ho Chen

“…Future studies will establish a strong foundation for the development of chemoprevention strategies, polymorphism-based clinical diagnostic tools (e.g., specific single-nucleotide polymorphism (SNP) “barcodes”), and effective treatments for BQ-related oral disorders.…”
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