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https://www.readbyqxmd.com/read/29786868/cis-acting-allele-specific-expression-ase-differences-induced-by-alcohol-and-impacted-by-sex-as-well-as-parental-genotype-of-origin
#1
Chiao-Ling Lo, Lawrence Lumeng, Richard L Bell, Tiebing Liang, Amy C Lossie, Williams M Muir, Feng C Zhou
BACKGROUND: Alcohol use disorders (AUDs) are influenced by complex interactions between the genetics of the individual and their environment. We have previously identified hundreds of polygenic genetic variants between the selectively bred high and low alcohol drinking (HAD and LAD) rat lines. Here we report allele specific expression (ASE) differences, between the HAD2 and LAD2 rat lines. METHODS: The HAD2 and LAD2 rats which have been sequenced were reciprocally crossed to generate 10 litters of F1 progeny...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786782/preclinical-impact-of-high-dose-intermittent-antiangiogenic-tyrosine-kinase-inhibitor-pazopanib-in-intrinsically-resistant-tumor-models
#2
Elaine Reguera-Nuñez, Shan Man, Ping Xu, Robert S Kerbel
Antiangiogenic tyrosine kinase inhibitors (TKIs) target vascular endothelial growth factor receptors and other receptor tyrosine kinases. As a result of toxicity, the clinical failures or the modest benefits associated with antiangiogenic TKI therapy may be related in some cases to suboptimal drug dosing and scheduling, thereby facilitating resistance. Most antiangiogenic TKIs, including pazopanib, are administered on a continuous daily basis. Here, instead, we evaluated the impact of increasing the dose and administering the drug intermittently...
May 21, 2018: Angiogenesis
https://www.readbyqxmd.com/read/29786729/application-of-a-constant-hole-volume-sanchez-lacombe-equation-of-state-to-mixtures-relevant-to-polymeric-foaming
#3
Kier von Konigslow, Chul B Park, Russell B Thompson
A variant of the Sanchez-Lacombe equation of state is applied to several polymers, blowing agents, and saturated mixtures of interest to the polymer foaming industry. These are low-density polyethylene-carbon dioxide and polylactide-carbon dioxide saturated mixtures as well as polystyrene-carbon dioxide-dimethyl ether and polystyrene-carbon dioxide-nitrogen ternary saturated mixtures. Good agreement is achieved between theoretically predicted and experimentally determined solubilities, both for binary and ternary mixtures...
May 22, 2018: Soft Matter
https://www.readbyqxmd.com/read/29786663/modeling-the-effect-of-primary-and-secondary-twinning-on-texture-evolution-during-severe-plastic-deformation-of-a-twinning-induced-plasticity-steel
#4
Laszlo S Toth, Christian Haase, Robert Allen, Rimma Lapovok, Dmitri A Molodov, Mohammed Cherkaoui, Haitham El Kadiri
Modeling the effect of deformation twinning and the ensuing twin-twin- and slip-twin-induced hardening is a long-standing problem in computational mechanical metallurgy of materials that deform by both slip and twinning. In this work, we address this effect using the twin volume transfer method, which obviates the need of any cumbersome criterion for twin variant selection. Additionally, this method is capable of capturing, at the same time, secondary or double twinning, which is particularly important for modeling in large strain regimes...
May 22, 2018: Materials
https://www.readbyqxmd.com/read/29786570/combination-of-metformin-and-pioglitazone-and-its-effect-in-treatment-of-comorbid-pathology
#5
Zlatoslava O Shaienko, Lyudmila Ye Bobyreva
OBJECTIVE: Introduction: The early development and high incidence of cardiovascular lesion in patients with type 2 diabetes mellitus is one of the most serious challenges for the diabetology worldwide. The aim: The purpose of the paper is to determine the dynamics of the insulin resistance indices in patients with type 2 diabetes mellitus concomitant with coronary heart disease in the combination therapy with metformin and pioglitazone during 3 and 6 months. PATIENTS AND METHODS: Materials and methods: 95 patients with type 2 diabetes mellitus and coronary heart disease have been treated and randomized into two groups: the comparison group (n=37), treated with metformin and sulfonylureas, and the study group (n=58), treated with metformin in combination with pioglitazone...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786123/genetic-variations-in-lta-gene-and-pdcd1-gene-and-intrauterine-infection-of-hepatitis-b-virus-a-case-control-study-in-china
#6
Tingting Liu, Zhihua Wan, Songxu Peng, Yanni Wang, Hongyan Chen, Xiu Li, Yukai Du
Intrauterine infection with hepatitis B virus (HBV) has been suggested to accounting for most cases of chronic HBV infection, which cannot be blocked by combined immunoprophylaxis. The fact that the genetic background might impact the susceptibility to intrauterine infection of HBV has been identified by recent researches. A case-control study included sixty-nine HBsAg-positive mother-newborn pairs with intrauterine infection as cases compared to 138 mother-newborn pairs without intrauterine infection as controls...
May 21, 2018: Amino Acids
https://www.readbyqxmd.com/read/29786121/genome-sequence-of-the-novel-virulent-bacteriophage-pmbt14-with-lytic-activity-against-pseudomonas-fluorescens-dsm-50090-r
#7
Sabrina Koberg, Stefanie Gieschler, Erik Brinks, Mareike Wenning, Horst Neve, Charles M A P Franz
Psychrotrophic gram-negative Pseudomonas spp. represent a serious problem in the dairy industry as they can cause spoilage of milk and dairy products. Bacteriophages have moved into focus as promising biocontrol agents for such food spoilage bacteria. The virulent Siphoviridae phage PMBT14 was isolated on a mutant variant of P. fluorescens DSM 50090 challenged with an unrelated virulent P. fluorescens DSM 50090 Podoviridae phage (i.e., mutant strain DSM 50090R ). PMBT14 has a 47,820-bp dsDNA genome with 76 predicted open reading frames (ORFs)...
May 21, 2018: Archives of Virology
https://www.readbyqxmd.com/read/29786119/full-length-and-defective-enterovirus-g-genomes-with-distinct-torovirus-protease-insertions-are-highly-prevalent-on-a-chinese-pig-farm
#8
Yan Wang, Wen Zhang, Zhijian Liu, Xingli Fu, Jiaqi Yuan, Jieji Zhao, Yuan Lin, Quan Shen, Xiaochun Wang, Xutao Deng, Eric Delwart, Tongling Shan, Shixing Yang
Recombination occurs frequently between enteroviruses (EVs) which are classified within the same species of the Picornaviridae family. Here, using viral metagenomics, the genomes of two recombinant EV-Gs (strains EVG 01/NC_CHI/2014 and EVG 02/NC_CHI/2014) found in the feces of pigs from a swine farm in China are described. The two strains are characterized by distinct insertion of a papain-like protease gene from toroviruses classified within the Coronaviridae family. According to recent reports the site of the torovirus protease insertion was located at the 2C/3A junction region in EVG 02/NC_CHI/2014...
May 21, 2018: Archives of Virology
https://www.readbyqxmd.com/read/29786095/high-throughput-creation-and-functional-profiling-of-dna-sequence-variant-libraries-using-crispr-cas9-in-yeast
#9
Xiaoge Guo, Alejandro Chavez, Angela Tung, Yingleong Chan, Christian Kaas, Yi Yin, Ryan Cecchi, Santiago Lopez Garnier, Eric D Kelsic, Max Schubert, James E DiCarlo, James J Collins, George M Church
Construction and characterization of large genetic variant libraries is essential for understanding genome function, but remains challenging. Here, we introduce a Cas9-based approach for generating pools of mutants with defined genetic alterations (deletions, substitutions, and insertions) with an efficiency of 80-100% in yeast, along with methods for tracking their fitness en masse. We demonstrate the utility of our approach by characterizing the DNA helicase SGS1 with small tiling deletion mutants that span the length of the protein and a series of point mutations against highly conserved residues in the protein...
May 21, 2018: Nature Biotechnology
https://www.readbyqxmd.com/read/29786080/atomic-structures-of-tdp-43-lcd-segments-and-insights-into-reversible-or-pathogenic-aggregation
#10
Elizabeth L Guenther, Qin Cao, Hamilton Trinh, Jiahui Lu, Michael R Sawaya, Duilio Cascio, David R Boyer, Jose A Rodriguez, Michael P Hughes, David S Eisenberg
The normally soluble TAR DNA-binding protein 43 (TDP-43) is found aggregated both in reversible stress granules and in irreversible pathogenic amyloid. In TDP-43, the low-complexity domain (LCD) is believed to be involved in both types of aggregation. To uncover the structural origins of these two modes of β-sheet-rich aggregation, we have determined ten structures of segments of the LCD of human TDP-43. Six of these segments form steric zippers characteristic of the spines of pathogenic amyloid fibrils; four others form LARKS, the labile amyloid-like interactions characteristic of protein hydrogels and proteins found in membraneless organelles, including stress granules...
May 21, 2018: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29785987/variant-myopia-a-new-presentation
#11
Jameel Rizwana Hussaindeen, Mithra Anand, Viswanathan Sivaraman, Krishna Kumar Ramani, Peter M Allen
Purpose: Variant myopia (VM) presents as a discrepancy of >1 diopter (D) between subjective and objective refraction, without the presence of any accommodative dysfunction. The purpose of this study is to create a clinical profile of VM. Methods: Fourteen eyes of 12 VM patients who had a discrepancy of >1D between retinoscopy and subjective acceptance under both cycloplegic and noncycloplegic conditions were included in the study. Fourteen eyes of 14 age- and refractive error-matched participants served as controls...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785925/comparison-of-two-genotyping-methods-for-distinguishing-recrudescence-from-reinfection-in-antimalarial-drug-efficacy-effectiveness-trials
#12
Joseph R M Fulakeza, Rachel L Banda, Trancizeo R Lipenga, Dianne J Terlouw, Standwell C Nkhoma, Eva Maria Hodel
Genotyping of allelic variants of Plasmodium falciparum merozoite surface proteins 1 and 2 ( msp-1 and msp-2 ), and the glutamate-rich protein is the gold standard for distinguishing reinfections from recrudescences in antimalarial drug trials. We compared performance of the recently developed 24-single-nucleotide polymorphism (SNP) Barcoding Assay against msp-1 and msp-2 genotyping in a cluster-randomized effectiveness trial of artemether-lumefantrine and dihydroartemisinin-piperaquine in Malawi. Rates of recrudescence and reinfection estimated by the two methods did not differ significantly (Fisher's exact test; P = 0...
May 21, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29785904/identification-of-an-immune-modulation-locus-utilising-a-bovine-mammary-gland-infection-challenge-model
#13
Mathew D Littlejohn, Sally-Anne Turner, Caroline G Walker, Sarah D Berry, Kathryn Tiplady, Ric G Sherlock, Greg Sutherland, Simon Swift, Dorian Garrick, S Jane Lacy-Hulbert, Scott McDougall, Richard J Spelman, Russell G Snell, J Eric Hillerton
Inflammation of the mammary gland following bacterial infection, commonly known as mastitis, affects all mammalian species. Although the aetiology and epidemiology of mastitis in the dairy cow are well described, the genetic factors mediating resistance to mammary gland infection are not well known, due in part to the difficulty in obtaining robust phenotypic information from sufficiently large numbers of individuals. To address this problem, an experimental mammary gland infection experiment was undertaken, using a Friesian-Jersey cross breed F2 herd...
May 2018: Journal of Dairy Research
https://www.readbyqxmd.com/read/29785886/treatment-of-homozygous-familial-hypercholesterolaemia-in-paediatric-patients-a-monocentric-experience
#14
Paola S Buonuomo, Marina Macchiaiolo, Giovanna Leone, Paola Valente, Gerarda Mastrogiorgio, Maria Gnazzo, Ippolita Rana, Michaela V Gonfiantini, Maria G Gagliardi, Francesca Romano, Andrea Bartuli
Background Homozygous familial hypercholesterolaemia is a rare life-threatening disease characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) concentrations and accelerated atherosclerosis. The presence of double gene defects in the LDL-Receptor, either the same defect (homozygous) or two different LDL-raising mutations (compound heterozygotes) or other variants, identify the homozygous phenotype (HopFH). Apheresis is a procedure in which plasma is separated from red blood cells before the physical removal of LDL-C or the LDL-C is directly removed from whole blood...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29785881/variants-in-genes-coding-for-glutathione-s-transferases-and-asthma-outcomes-in-children
#15
Steve Turner, Ben Francis, Nuha Wani, Susanne Vijverberg, Maria Pino-Yanes, Somnath Mukhopadhyay, Roger Tavendale, Colin Palmer, Esteban G Burchard, Simon Kebede Merid, Erik Melén, Anke H Maitland-van der Zee, On Behalf Of The Pharmacogenomics In Childhood Asthma Consortium
Our hypothesis was that children with mutations in genes coding for glutathione S-transferases (GST) have worse asthma outcomes compared with children with active type genotype. Data were collected in five populations. The rs1695 single nucleotide polymorphism (GSTP1) was determined in all cohorts (3692 children) and GSTM1 and GSTT1 null genotype were determined in three cohorts (2362 children). GSTT1 null (but not other genotypes) was associated with a minor increased risk for asthma attack and there were no significant associations between GST genotypes and asthma severity...
May 22, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29785877/hepatitis-b-virus-lymphotropism-emerging-details-and-challenges
#16
Shivali S Joshi, Carla S Coffin
The hepatitis B virus (HBV) is predominantly a hepatotropic virus but also infects cells of the lymphatic system. HBV genomes (DNA, messenger (m)RNA, covalently closed circular (ccc) DNA) and proteins have been found in extrahepatic sites such as peripheral blood mononuclear cells (PBMC), lymph nodes, spleen, bone marrow and cerebrospinal fluid. HBV entry into hepatocytes occurs by binding of the HBV preS1 surface protein to its specific receptor, the bile acid transporter, sodium taurocholate co-transporting polypeptide (NTCP)...
May 22, 2018: Biotechnology & Genetic Engineering Reviews
https://www.readbyqxmd.com/read/29785653/valproic-acid-treatment-response-in-vitro-is-determined-by-tp53-status-in-medulloblastoma
#17
Bruna Mascaro-Cordeiro, Indhira Dias Oliveira, Francine Tesser-Gamba, Lorena Favaro Pavon, Nasjla Saba-Silva, Sergio Cavalheiro, Patrícia Dastoli, Silvia Regina Caminada Toledo
PURPOSE: Histone deacetylate inhibitors (HDACi), as valproic acid (VA), have been reported to enhance efficacy and to prevent drug resistance in some tumors, including medulloblastoma (MB). In the present study, we investigated VA role, combined to cisplatin (CDDP) in cell viability and gene expression of MB cell lines. METHODS: Dose-response curve determined IC50 values for each treatment: (1) VA single, (2) CDDP single, and (3) VA and CDDP combined. Cytotoxicity and flow cytometry evaluated cell viability after exposure to treatments...
May 22, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29785651/genetic-analysis-of-the-human-insulin-like-3-gene-in-pediatric-patients-with-testicular-torsion
#18
Anna Paola Capra, Elisa Ferro, Maria Angela La Rosa, Silvana Briuglia, Tiziana Russo, Salvatore Arena, Carmelo Salpietro Damiano, Carmelo Romeo, Pietro Impellizzeri
PURPOSE: Testicular torsion (TT) mainly affects boys under 18 years old. To avoid orchiectomy, TT requires an immediate operative management. The etiology of TT is still controversial. Observed familiar recurrence suggests the presence of a genetic involvement. The INSL3 gene consists of two exons, and it is specifically expressed in fetal and adult Leydig cells. In transgenic mice, deletion of this gene was observed an increased testicular mobility and testicular torsion. We have hypothesized the possible involvement of the INSL3 gene as a predisposing factor of human TT...
May 21, 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29785647/mrna-analysis-of-genes-encoded-with-phytochelatin-synthase-pcs-in-rice-seedlings-exposed-to-chromium-the-role-of-phytochelatins-in-cr-detoxification
#19
Xiao-Zhang Yu, Qin-Long Ling, Yan-Hong Li, Yu-Juan Lin
Transcriptional changes of genes encoded with phytochelatins synthase (PCS) was investigated in rice seedlings exposed to potassium chromate Cr(VI) or chromium nitrate Cr(III) using qRT-PCR. Our study demonstrates that both Cr variants initiated different responses of phytochelatin content and PCS activities in rice tissues. Six putative PCS genes were expressed differentially in response to both Cr species. Comparing gene expression between root/shoots, only LOC_Os05g34290.1 and LOC_Os06g01260.1 genes were expressed in similar patterns in Cr(VI) treatment, while none of them were expressed equally in Cr(III) treatments...
May 21, 2018: Bulletin of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#20
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
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