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https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#1
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
September 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28927116/expression-of-family-with-sequence-similarity-172-member-a-and-nucleotide-binding-protein-1-is-associated-with-the-poor-prognosis-of-colorectal-carcinoma
#2
Wenjun Liu, Shuang Wang, Kai Qian, Jinqian Zhang, Zhi Zhang, Hao Liu
In our previous studies, a functionally unknown gene, family with sequence similarity 172, member A (FAM172A), was identified. High levels of FAM172A suppressed the cell cycle process, arresting HepG2 cells in G1/S and inhibiting cell proliferation. The present study aimed to confirm the expression levels of FAM172A and nucleotide-binding protein 1 (NUBP1) in colorectal cancer (CRC) tissues and normal colorectal tissues. The impact of FAM172A and NUBP1 on the prognosis of patients with CRC was also analyzed...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28927037/xrcc1-and-xpd-polymorphisms-and-their-relation-to-the-clinical-course-in-hepatocarcinoma-patients
#3
Qinghai Guan, Zhiqiang Chen, Qiangpu Chen, Xuting Zhi
In this study genotyping of hepatocellular carcinoma (HCC) patients was conducted to detect polymorphisms on the X-ray repair cross-complementing 1 (XRCC1) and xeroderma pigmentosum complementary group D (XPD) genes and analyze the relationship of their presence with the clinical features of the cancer. A total of 172 patients with HCC were selected in Qilu Hospital, Shandong University, from January 2010 to September 2011. All patients underwent resection of HCC and no tumor metastases were found. Peripheral venous blood samples (3-5 ml) were collected from the patients to extract genomic DNA...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28925698/an-ultraviolet-resonance-raman-spectroscopic-study-of-cisplatin-and-transplatin-interactions-with-genomic-dna
#4
Jiafeng Geng, Mena Aioub, Mostafa A El-Sayed, Bridgette A Barry
Ultraviolet resonance Raman (UVRR) spectroscopy is a label-free method to define biomacromolecular interactions with anticancer compounds. Using UVRR, we describe the binding interactions of two Pt(II) compounds, cisplatin (cis-diamminedichloroplatinum(II)) and its isomer, transplatin, with nucleotides and genomic DNA. Cisplatin binds to DNA and other cellular components and triggers apoptosis, whereas transplatin is clinically ineffective. Here, a 244 nm UVRR study shows that purine UVRR bands are altered in frequency and intensity when mononucleotides are treated with cisplatin...
September 19, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28924184/genetic-contributions-to-trail-making-test-performance-in-uk-biobank
#5
S P Hagenaars, S R Cox, W D Hill, G Davies, D C M Liewald, S E Harris, A M McIntosh, C R Gale, I J Deary
The Trail Making Test (TMT) is a widely used test of executive function and has been thought to be strongly associated with general cognitive function. We examined the genetic architecture of the TMT and its shared genetic aetiology with other tests of cognitive function in 23 821 participants from UK Biobank. The single-nucleotide polymorphism-based heritability estimates for trail-making measures were 7.9% (part A), 22.4% (part B) and 17.6% (part B-part A). Significant genetic correlations were identified between trail-making measures and verbal-numerical reasoning (rg>0...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28924022/pan-genomic-analyses-identify-key-helicobacter-pylori-pathogenic-loci-modified-by-carcinogenic-host-microenvironments
#6
Jennifer M Noto, Abha Chopra, John T Loh, Judith Romero-Gallo, M Blanca Piazuelo, Mark Watson, Shay Leary, Amber C Beckett, Keith T Wilson, Timothy L Cover, Simon Mallal, Dawn A Israel, Richard M Peek
OBJECTIVE: Helicobacter pylori is the strongest risk factor for gastric cancer; however, the majority of infected individuals do not develop disease. Pathological outcomes are mediated by complex interactions among bacterial, host and environmental constituents, and two dietary factors linked with gastric cancer risk are iron deficiency and high salt. We hypothesised that prolonged adaptation of H. pylori to in vivo carcinogenic microenvironments results in genetic modification important for disease...
September 18, 2017: Gut
https://www.readbyqxmd.com/read/28923017/within-breed-and-multi-breed-gwas-on-imputed-whole-genome-sequence-variants-reveal-candidate-mutations-affecting-milk-protein-composition-in-dairy-cattle
#7
Marie-Pierre Sanchez, Armelle Govignon-Gion, Pascal Croiseau, Sébastien Fritz, Chris Hozé, Guy Miranda, Patrice Martin, Anne Barbat-Leterrier, Rabia Letaïef, Dominique Rocha, Mickaël Brochard, Mekki Boussaha, Didier Boichard
BACKGROUND: Genome-wide association studies (GWAS) were performed at the sequence level to identify candidate mutations that affect the expression of six major milk proteins in Montbéliarde (MON), Normande (NOR), and Holstein (HOL) dairy cattle. Whey protein (α-lactalbumin and β-lactoglobulin) and casein (αs1, αs2, β, and κ) contents were estimated by mid-infrared (MIR) spectrometry, with medium to high accuracy (0.59 ≤ R(2) ≤ 0.92), for 848,068 test-day milk samples from 156,660 cows in the first three lactations...
September 18, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28922469/one-pot-synthesis-of-gdp-mannose-by-a-multi-enzyme-cascade-for-enzymatic-assembly-of-lipid-linked-oligosaccharides
#8
Thomas F T Rexer, Anna Schildbach, Jan Klapproth, Angelika Schierhorn, Reza Mahour, Markus Pietzsch, Erdmann Rapp, Udo Reichl
Glycosylation of proteins is a key function of the biosynthetic-secretory pathway in the endoplasmic reticulum (ER) and Golgi apparatus. Glycosylated proteins play a crucial role in cell trafficking and signaling, cell-cell adhesion, blood-group antigenicity, and immune response. In addition, the glycosylation of proteins is an important parameter in the optimization of many glycoprotein-based drugs such as monoclonal antibodies. In vitro glycoengineering of proteins requires glycosyltransferases as well as expensive nucleotide sugars...
September 18, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/28922464/molecular-dynamics-simulation-revealed-binding-of-nucleotide-inhibitors-to-zikv-polymerase-over-444-nanoseconds
#9
Abdo A Elfiky, Wael M Elshemey
In the year 2015, new Zika virus (ZIKV) broke out in Brazil and spread away in more than 80 countries. Scientists directed their efforts toward viral polymerase in attempt to find inhibitors that might interfere with its function. In this study, molecular dynamics simulation (MDS) was performed over 444 ns for a ZIKV polymerase model. Molecular docking (MD) was then performed every 10 ns during the MDS course to ensure the binding of small molecules to the polymerase over the entire time of the simulation...
September 18, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28921927/fast-and-cost-effective-single-nucleotide-polymorphism-snp-detection-in-the-absence-of-a-reference-genome-using-semi-deep-next-generation-random-amplicon-sequencing-ramseq
#10
Helmut Bayerl, Robert H S Kraus, Carsten Nowak, Daniel W Foerster, Joerns Fickel, Ralph Kuehn
Biodiversity has suffered a dramatic global decline during the past decades and monitoring tools are urgently needed providing data for the development and evaluation of conservation efforts both on a species and a genetic level. However, in wild species the assessment of genetic diversity is often hampered by the lack of suitable genetic markers. In this article we present Random Amplicon Sequencing (RAMseq), a novel approach for fast and cost-effective detection of single nucleotide polymorphisms (SNPs) in non-model species by semi-deep sequencing of random amplicons...
September 15, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/28921602/human-leukocyte-antigen-variants-and-risk-of-hepatocellular-carcinoma-modified-by-hcv-genotypes-a-genome-wide-association-study
#11
Mei-Hsuan Lee, Yu-Han Huang, Hsuan-Yu Chen, Charles Seik-Soon Khor, Ya-Hsuan Chang, Yu-Ju Lin, Chin-Lan Jen, Sheng-Nan Lu, Hwai-I Yang, Nao Nishida, Masaya Sugiyama, Masashi Mizokami, Yong Yuan, Gibert L'Italien, Katsushi Tokunaga, Chien-Jen Chen
BACKGROUND & AIMS: We conducted a genome-wide association study (GWAS) to discover genetic variants associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC). METHODS: We genotyped 502 HCC cases and 749 non-HCC controls by using the Axiom(TM) -CHB genome-wide array. After identifying single nucleotide polymorphism (SNP) cluster located in the human leukocyte antigen region which were potentially associated with HCC, HLA-DQB1 genotyping was performed to analyze 994 anti-HCV seropositives collected in the period of 1991-2013 in a community-based cohort for evaluating long-term predictability of HLA variants for identifying the risk of HCC...
September 16, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28921561/the-ribokinases-of-arabidopsis-thaliana-and-saccharomyces-cerevisiae-are-required-for-ribose-recycling-from-nucleotide-catabolism-which-in-plants-is-not-essential-to-survive-prolonged-dark-stress
#12
Rebekka Y Schroeder, Anting Zhu, Holger Eubel, Kathleen Dahncke, Claus-Peter Witte
Nucleotide catabolism in Arabidopsis thaliana and Saccharomyces cerevisiae leads to the release of ribose, which requires phosphorylation to ribose-5-phosphate mediated by ribokinase (RBSK). We aimed to characterize RBSK in plants and yeast, to quantify the contribution of plant nucleotide catabolism to the ribose pool, and to investigate whether ribose carbon contributes to dark stress survival of plants. We performed a phylogenetic analysis and determined the kinetic constants of plant-expressed Arabidopsis and yeast RBSKs...
September 18, 2017: New Phytologist
https://www.readbyqxmd.com/read/28920408/characterization-of-gene-expression-and-genetic-variation-of-horse-errfi1-in-thoroughbreds
#13
Jae-Young Choi, Hyun-Jun Jang, Jeong-Woong Park, Jae-Don Oh, Donghyun Shin, Nam Young Kim, Jin Hyeog Oh, Ki-Duk Song, Byung-Wook Cho
Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through PROMO. A general linear model (GLM) was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance...
September 18, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28918882/genome-wide-associations-related-to-hepatic-histology-in-nonalcoholic-fatty-liver-disease-in-hispanic-boys
#14
Julia Wattacheril, Joel E Lavine, Naga P Chalasani, Xiuqing Guo, Soonil Kwon, Jeffrey Schwimmer, Jean P Molleston, Rohit Loomba, Elizabeth M Brunt, Yii-Der Ida Chen, Mark O Goodarzi, Kent D Taylor, Katherine P Yates, James Tonascia, Jerome I Rotter
OBJECTIVE: To identify genetic loci associated with features of histologic severity of nonalcoholic fatty liver disease in a cohort of Hispanic boys. STUDY DESIGN: There were 234 eligible Hispanic boys age 2-17 years with clinical, laboratory, and histologic data enrolled in the Nonalcoholic Steatohepatitis Clinical Research Network included in the analysis of 624 297 single nucleotide polymorphisms (SNPs). After the elimination of 4 outliers and 22 boys with cryptic relatedness, association analyses were performed on 208 DNA samples with corresponding liver histology...
September 14, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28918476/effects-of-stocking-density-on-lipid-deposition-and-expression-of-lipid-related-genes-in-amur-sturgeon-acipenser-schrenckii
#15
Yuanyuan Ren, Haishen Wen, Yun Li, Jifang Li, Feng He, Meng Ni
To investigate the correlation between lipid deposition variation and stocking density in Amur sturgeon (Acipenser schrenckii) and the possible physiological mechanism, fish were conducted in different stocking densities (LSD 5.5 kg/m(3), MSD 8.0 kg/m(3), and HSD 11.0 kg/m(3)) for 70 days and then the growth index, lipid content, lipase activities, and the mRNA expressions of lipid-related genes were examined. Results showed that fish subjected to higher stocking density presented lower final body weights (FBW), specific growth ratio (SGR), and gonad adipose tissue index (GAI) (P < 0...
September 16, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28918326/a-surrogate-analyte-based-liquid-chromatography-tandem-mass-spectrometry-method-for-the-determination-of-endogenous-cyclic-nucleotides-in-rat-brain
#16
Jie Chen, Ali Tabatabaei, Doug Zook, Yan Wang, Anne Danks, Kathe Stauber
A robust high-performance liquid chromatography tandem mass spectrometry (LC-MS/MS) assay was developed and qualified for the measurement of cyclic nucleotides (cNTs) in rat brain tissue. Stable isotopically labeled 3',5'-cyclic adenosine-(13)C5 monophosphate ((13)C5-cAMP) and 3',5'-cyclic guanosine-(13)C,(15)N2 monophosphate ((13)C(15)N2-cGMP) were used as surrogate analytes to measure endogenous 3',5'-cyclic adenosine monophosphate (cAMP) and 3',5'-cyclic guanosine monophosphate (cGMP). Pre-weighed frozen rat brain samples were rapidly homogenized in 0...
September 14, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28917985/the-effect-of-particle-shape-on-cellular-interaction-and-drug-delivery-applications-of-micro-and-nanoparticles
#17
REVIEW
Anil B Jindal
Encapsulation of therapeutic agents in nanoparticles offers several benefits including improved bioavailability, site specific delivery, reduced toxicity and in vivo stability of proteins and nucleotides over conventional delivery options. These benefits are consequence of distinct in vivo pharmacokinetic and biodistribution profile of nanoparticles, which is dictated by the complex interplay of size, surface charge and surface hydrophobicity. Recently, particle shape has been identified as a new physical parameter which has exerted tremendous impact on cellular uptake and biodistribution, thereby in vivo performance of nanoparticles...
September 13, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28916551/genetic-determinants-of-radiographic-knee-osteoarthritis-in-african-americans
#18
Youfang Liu, Michelle S Yau, Laura M Yerges-Armstrong, David J Duggan, Jordan B Renner, Marc C Hochberg, Braxton D Mitchell, Rebecca D Jackson, Joanne M Jordan
OBJECTIVE: The etiology of knee osteoarthritis (OA), the most common form of arthritis, is complex and may differ by race or ethnicity. In recent years, genetic studies have identified many genetic variants associated with OA, but nearly all the studies were conducted in European whites and Asian Americans. Few studies have focused on the genetics of knee OA in African Americans. METHODS: We performed a genome-wide association study of radiographic knee OA in 1217 African Americans from 2 North American cohort studies: 590 subjects from the Johnston County Osteoarthritis Project and 627 subjects from the Osteoarthritis Initiative...
September 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28916543/cryopyrin-associated-periodic-syndromes-in-italian-patients-evaluation-of-the-rate-of-somatic-nlrp3-mosaicism-and-phenotypic-characterization
#19
Denise Lasigliè, Anna Mensa-Vilaro, Denise Ferrera, Roberta Caorsi, Federica Penco, Giuseppe Santamaria, Marco Di Duca, Giulia Amico, Kenji Nakagawa, Francesca Antonini, Alberto Tommasini, Rita Consolini, Antonella Insalaco, Marco Cattalini, Laura Obici, Romina Gallizzi, Francesca Santarelli, Genny Del Zotto, Mariasavina Severino, Anna Rubartelli, Roberto Ravazzolo, Alberto Martini, Isabella Ceccherini, Ryuta Nishikomori, Marco Gattorno, Juan I Arostegui, Silvia Borghini
OBJECTIVE: To evaluate the rate of somatic NLRP3 mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS). METHODS: The study enrolled 14 patients with a clinical phenotype consistent with CAPS in whom Sanger sequencing of the NLRP3 gene yielded negative results. Patients' DNA were subjected to amplicon-based NLRP3 deep sequencing. RESULTS: Low-level somatic NLRP3 mosaicism has been detected in 4 patients, 3 affected with chronic infantile neurological cutaneous and articular syndrome and 1 with Muckle-Wells syndrome...
September 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28916376/transcriptome-profiling-of-the-plutella-xylostella-lepidoptera-plutellidae-ovary-reveals-genes-involved-in-oogenesis
#20
Lu Peng, Lei Wang, Yi-Fan Yang, Ming-Min Zou, Wei-Yi He, Yue Wang, Qing Wang, Liette Vasseur, Min-Sheng You
BACKGROUND: As a specialized organ, the insect ovary performs valuable functions by ensuring fecundity and population survival. Oogenesis is the complex physiological process resulting in the production of mature eggs, which are involved in epigenetic programming, germ cell behavior, cell cycle regulation, etc. Identification of the genes involved in ovary development and oogenesis is critical to better understand the reproductive biology and screening the potential molecular targets in Plutella xylostella, a worldwide destructive pest of economically major crops...
September 12, 2017: Gene
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