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https://www.readbyqxmd.com/read/27911294/deleterious-effect-of-butyrylcholinesterase-k-variant-in-donepezil-treatment-of-mild-cognitive-impairment
#1
Sophie Sokolow, Xiaohui Li, Lucia Chen, Kent D Taylor, Jerome I Rotter, Robert A Rissman, Paul S Aisen, Liana G Apostolova
BACKGROUND: Donepezil is an acetylcholinesterase inhibitor frequently prescribed for the treatment of mild cognitive impairment (MCI) though not approved by the Food and Drug Administration for this indication. In Alzheimer's disease, butyrylcholinesterase (BChE) activity increases with disease progression and may replace acetylcholinesterase function. The most frequent polymorphism of BChE is the K-variant, which is associated with lower acetylcholine-hydrolyzing activity. BChE-K polymorphism has been studied in Alzheimer's disease progression and donepezil therapy, and has led to contradictory results...
November 29, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27910885/bonobo-personality-traits-are-heritable-and-associated-with-vasopressin-receptor-gene-1a-variation
#2
Nicky Staes, Alexander Weiss, Philippe Helsen, Marisa Korody, Marcel Eens, Jeroen M G Stevens
Despite being closely related, bonobos and chimpanzees show remarkable behavioral differences, the proximate origins of which remain unknown. This study examined the link between behavioral variation and variation in the vasopressin 1a receptor gene (Avpr1a) in bonobos. Chimpanzees are polymorphic for a ~360 bp deletion (DupB), which includes a microsatellite (RS3) in the 5' promoter region of Avpr1a. In chimpanzees, the DupB deletion has been linked to lower sociability, lower social sensitivity, and higher anxiety...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27909141/developing-a-risk-scoring-model-for-ankylosing-spondylitis-based-on-a-combination-of-hla-b27-single-nucleotide-polymorphism-and-copy-number-variant-markers
#3
Seung-Hyun Jung, Sung-Min Cho, Seon-Hee Yim, So-Hee Kim, Hyeon-Chun Park, Mi-La Cho, Seung-Cheol Shim, Tae-Hwan Kim, Sung-Hwan Park, Yeun-Jun Chung
OBJECTIVE: To develop a genotype-based ankylosing spondylitis (AS) risk prediction model that is more sensitive and specific than HLA-B27 typing. METHODS: To develop the AS genetic risk scoring (AS-GRS) model, 648 individuals (285 cases and 363 controls) were examined for 5 copy number variants (CNV), 7 single-nucleotide polymorphisms (SNP), and an HLA-B27 marker by TaqMan assays. The AS-GRS model was developed using logistic regression and validated with a larger independent set (576 cases and 680 controls)...
December 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/27908386/genetic-polymorphisms-in-19q13-3-genes-associated-with-alteration-of-repair-capacity-to-bpde-dna-adducts-in-primary-cultured-lymphocytes
#4
Mingyang Xiao, Sha Xiao, Tahar van der Straaten, Ping Xue, Guopei Zhang, Xiao Zheng, Qianye Zhang, Yuan Cai, Cuihong Jin, Jinghua Yang, Shengwen Wu, Guolian Zhu, Xiaobo Lu
Benzo[a]pyrene(B[a]P), and its ultimate metabolite Benzo[a]pyrene 7,8-diol 9,10-epoxide (BPDE), are classic DNA damaging carcinogens. DNA damage in cells caused by BPDE is normally repaired by Nucleotide Excision Repair (NER) and Base Excision Repair (BER). Genetic variations in NER and BER can change individual DNA repair capacity to DNA damage induced by BPDE. In the present study we determined the number of in vitro induced BPDE-DNA adducts in lymphocytes, to reflect individual susceptibility to Polycyclic aromatic hydrocarbons (PAHs)-induced carcinogenesis...
December 2016: Mutation Research
https://www.readbyqxmd.com/read/27908255/solid-state-concerns-during-drug-discovery-and-development-thermodynamic-and-kinetic-aspects-of-crystal-polymorphism-and-the-special-cases-of-concomitant-polymorphs-co-crystals-and-glasses
#5
Daniel Petrus Otto, Melgardt Melvin De Villiers
During drug discovery and development the thermodynamics and kinetics of crystal form transitions must be studied and the fundamental properties of polymorphs must be identified. However, despite the accumulation of knowledge and experimental evidence that support the understanding of crystallization, its predictability still presents significant challenges. With the continuous development of new drug delivery technologies, even more complex situations arise such as difficult cases of polymorph selection, co-crystallization of different molecules, and manipulation of the crystallization environment by for example amorphous solids...
December 1, 2016: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/27905605/an-efficient-2d-11-b-11-b-solid-state-nmr-spectroscopy-strategy-for-monitoring-covalent-self-assembly-of-boronic-acid-derived-compounds-the-transformation-and-unique-architecture-of-bortezomib-molecules-in-the-solid-state
#6
J Brus, J Czernek, M Urbanova, L Kobera, A Jegorov
The difficulty in the prediction of the complicated solid-state structure of boronic acid derivatives, resulting from the complex pathway of reversible covalent interactions, represents a significant obstacle to the development of a new generation of advanced supramolecular systems such as covalent organic frameworks of efficient anticancer drugs. In this contribution, various 2D (11)B-(11)B solid-state NMR correlation techniques supported by DFT calculations were explored to formulate a reliable tool for monitoring the covalent assembly of boronic acid residues in the solid state...
December 1, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27905519/the-impact-of-dna-damage-response-gene-polymorphisms-on-therapeutic-outcomes-in-late-stage-ovarian-cancer
#7
F Guffanti, R Fruscio, E Rulli, G Damia
Late stage epithelial ovarian cancer has a dismal prognosis. Identification of pharmacogenomic markers (i.e. polymorphisms) to stratify patients to optimize individual therapy is of paramount importance. We here report the retrospective analysis of polymorphisms in 5 genes (ATM, ATR, Chk1, Chk2 and CDK12) involved in the cellular response to platinum in a cohort of 240 cancer patients with late stage ovarian cancer. The aim of the present study was to evaluate associations between the above mentioned SNPs and patients' clinical outcomes: overall survival (OS) and progression free survival (PFS)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905213/hepatic-lipid-and-genetic-factors-associated-with-obesity-crosstalk-with-alcohol-dependence
#8
Kimberly Goodyear, Mary R Lee, Melanie L Schwandt, Colin A Hodgkinson, Lorenzo Leggio
OBJECTIVES: Alcohol dependence represents a leading cause of mortality and morbidity. Understanding the variables that contribute to this diagnosis and its severity is critical. An overlap between factors that may predispose people to become obese and those that may increase the risk of alcohol dependence may exist. However, data in the literature are not conclusive. Therefore, this study aimed to identify the association between alcohol dependence and obesity-related factors, including biochemical and genetic factors...
December 1, 2016: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/27904804/mining-snps-in-extracellular-vesicular-transcriptome-of-trypanosoma-cruzi-a-step-closer-to-early-diagnosis-of-neglected-chagas-disease
#9
Pallavi Gaur, Anoop Chaturvedi
One of the newest and strongest members of intercellular communicators, the Extracellular vesicles (EVs) and their enclosed RNAs; Extracellular RNAs (exRNAs) have been acknowledged as putative biomarkers and therapeutic targets for various diseases. Although a very deep insight has not been possible into the physiology of these vesicles, they are believed to be involved in cell-to-cell communication and host-pathogen interactions. EVs might be significantly helpful in discovering biomarkers for possible target identification as well as prognostics, diagnostics and developing vaccines...
2016: PeerJ
https://www.readbyqxmd.com/read/27904617/the-interferon-lambda-4-rs368234815-predicts-treatment-response-to-pegylated-interferon-alpha-and-ribavirin-in-hemophilic-patients-with-chronic-hepatitis-c
#10
Maryam Keshvari, Seyed Moayed Alavian, Bita Behnava, Ali Pouryasin, Heidar Sharafi
BACKGROUND: A dinucleotide variant rs368234815 in interferon lambda 4 (IFNL4) gene was recently found to be associated with the hepatitis C virus (HCV) treatment response. This study aimed to assess the impact of IFNL4 rs368234815 polymorphism on treatment response to pegylated-IFN alpha (Peg-IFN-α) and ribavirin (RBV) in hemophilic patients with chronic hepatitis C (CHC). MATERIALS AND METHODS: In this retrospective study, 92 hemophilic patients with CHC who were treated with Peg-IFN-α/RBV were investigated...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27903797/accumulation-of-pol-mutations-selected-by-hla-b-52-01-c-12-02-protective-haplotype-restricted-ctls-causes-low-plasma-viral-load-due-to-low-viral-fitness-of-mutant-viruses
#11
Hayato Murakoshi, Madoka Koyanagi, Takayuki Chikata, Mohammad Arif Rahman, Nozomi Kuse, Keiko Sakai, Hiroyuki Gatanaga, Shinichi Oka, Masafumi Takiguchi
: HLA-B*52:01-C*12:02, which is the most abundant haplotype in Japan, has a protective effect on disease progression in HIV-1-infected Japanese individuals, whereas HLA-B*57 and -B*27 protective alleles are very rare in Japan. A previous study on HLA-associated polymorphisms demonstrated that the number of HLA-B*52:01-associated mutations at four Pol positions was inversely correlated with plasma viral load (pVL) in HLA-B*52:01-negative individuals, suggesting that the transmission of HIV-1 with these mutations could modulate the pVL in the population...
November 30, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27902803/alphasim-software-for-breeding-program-simulation
#12
Anne-Michelle Faux, Gregor Gorjanc, R Chris Gaynor, Mara Battagin, Stefan M Edwards, David L Wilson, Sarah J Hearne, Serap Gonen, John M Hickey
This paper describes AlphaSim, a software package for simulating plant and animal breeding programs. AlphaSim enables the simulation of multiple aspects of breeding programs with a high degree of flexibility. AlphaSim simulates breeding programs in a series of steps: (i) simulate haplotype sequences and pedigree; (ii) drop haplotypes into the base generation of the pedigree and select single-nucleotide polymorphism (SNP) and quantitative trait nucleotide (QTN); (iii) assign QTN effects, calculate genetic values, and simulate phenotypes; (iv) drop haplotypes into the burn-in generations; and (v) perform selection and simulate new generations...
November 2016: Plant Genome
https://www.readbyqxmd.com/read/27901483/meta-analysis-on-the-association-of-vegfr1-genetic-variants-with-sunitinib-outcome-in-metastatic-renal-cell-carcinoma-patients
#13
Xiaoyan Liu, Jesse J Swen, Epie Boven, Daniel Castellano, Hans Gelderblom, Ron H J Mathijssen, Cristina Rodríguez-Antona, Jesus García-Donas, Brian I Rini, Henk-Jan Guchelaar
VEGFR1 rs9582036 and rs9554320 were previously reported the association with sunitinib progression-free survival (PFS) and overall survival (OS) in patients with metastatic renal cell carcinoma (mRCC). Hereafter, the association of both single nucleotide polymorphisms (SNPs) with PFS/OS was confirmed in two independent mRCC cohorts. The aim of the current study was to validate the associations of both SNPs with sunitinib outcome in three independent well-characterized cohorts (SUTOX, CCF and SOGUG) including 286 sunitinib-treated mRCC patients, as well as to perform a meta-analysis of current and published data combined...
November 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27901061/inter-individual-variability-and-modeling-of-electrical-activity-a-possible-new-approach-to-explore-cardiac-safety
#14
Jean-Yves Le Guennec, Jérôme Thireau, Aude Ouillé, Julien Roussel, Jérôme Roy, Serge Richard, Sylvain Richard, Eric Martel, Pascal Champéroux
Safety pharmacology aims to predict rare side effects of new drugs. We explored whether rare pro-arrhythmic effects could be linked to the variability of the effects of these drugs on ion currents and whether taking into consideration this variability in computational models could help to better detect and predict cardiac side effects. For this purpose, we evaluated how intra- and inter-individual variability influences the effect of hERG inhibition on both the action potential duration and the occurrence of arrhythmias...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27900402/effects-of-ugt1a9-genetic-polymorphisms-on-monohydroxylated-derivative-of-oxcarbazepine-concentrations-and-oxcarbazepine-monotherapeutic-efficacy-in-chinese-patients-with-epilepsy
#15
Yao Lu, Youxin Fang, Xunyi Wu, Chunlai Ma, Yue Wang, Lan Xu
AIM: The human UDP-glucuronosyltransferase which is genetically polymorphic catalyzes glucuronidations of various drugs. The interactions among UGT1A4, UGT1A6, UGT1A9, and UGT2B15 genetic polymorphisms, monohydroxylated derivative (MHD) of oxcarbazepine (OXC) plasma concentrations, and OXC monotherapeutic efficacy were explored in 124 Chinese patients with epilepsy receiving OXC monotherapy. METHOD: MHD is the major active metabolite of OXC, and its plasma concentration was measured using high-performance liquid chromatography when patients reached their maintenance dose of OXC...
November 29, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27900399/quantitative-trait-loci-mapping-of-heat-tolerance-in-broccoli-brassica-oleracea-var-italica-using-genotyping-by-sequencing
#16
Sandra E Branham, Zachary J Stansell, David M Couillard, Mark W Farnham
Five quantitative trait loci and one epistatic interaction were associated with heat tolerance in a doubled haploid population of broccoli evaluated in three summer field trials. Predicted rising global temperatures due to climate change have generated a demand for crops that are resistant to yield and quality losses from heat stress. Broccoli (Brassica oleracea var. italica) is a cool weather crop with high temperatures during production decreasing both head quality and yield. Breeding for heat tolerance in broccoli has potential to both expand viable production areas and extend the growing season but breeding efficiency is constrained by limited genetic information...
November 29, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27899579/snp2tfbs-a-database-of-regulatory-snps-affecting-predicted-transcription-factor-binding-site-affinity
#17
Sunil Kumar, Giovanna Ambrosini, Philipp Bucher
SNP2TFBS is a computational resource intended to support researchers investigating the molecular mechanisms underlying regulatory variation in the human genome. The database essentially consists of a collection of text files providing specific annotations for human single nucleotide polymorphisms (SNPs), namely whether they are predicted to abolish, create or change the affinity of one or several transcription factor (TF) binding sites. A SNP's effect on TF binding is estimated based on a position weight matrix (PWM) model for the binding specificity of the corresponding factor...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27899155/comparative-sequence-analysis-of-cyclospora-cayetanensis-apicoplast-genomes-originating-from-diverse-geographical-regions
#18
Hediye Nese Cinar, Yvonne Qvarnstrom, Yuping Wei-Pridgeon, Wen Li, Fernanda S Nascimento, Michael J Arrowood, Helen R Murphy, AhYoung Jang, Eunje Kim, RaeYoung Kim, Alexandre da Silva, Gopal R Gopinath
BACKGROUND: Cyclospora cayetanensis is an emerging coccidian parasite that causes endemic and epidemic diarrheal disease called cyclosporiasis, and this infection is associated with consumption of contaminated produce or water in developed and developing regions. Food-borne outbreaks of cyclosporiasis have occurred almost every year in the USA since the 1990s. Investigations of these outbreaks are currently hampered due to lack of molecular epidemiological tools for trace back analysis...
November 29, 2016: Parasites & Vectors
https://www.readbyqxmd.com/read/27899135/analysis-of-pvama1-genes-from-china-myanmar-border-reveals-little-regional-genetic-differentiation-of-plasmodium-vivax-populations
#19
Xiaotong Zhu, Pan Zhao, Si Wang, Fei Liu, Jun Liu, Jian Wang, Zhaoqing Yang, Guiyun Yan, Qi Fan, Yaming Cao, Liwang Cui
BACKGROUND: With the premise of diminishing parasite genetic diversity following the reduction of malaria incidence, the analysis of polymorphic antigenic markers may provide important information about the impact of malaria control on local parasite populations. Here we evaluated the genetic diversity of Plasmodium vivax apical membrane antigen 1 (Pvama1) gene in a parasite population from the China-Myanmar border and compared it with global P. vivax populations. METHODS: We performed evolutionary analysis to examine the genetic diversity, natural selection, and population differentiation of 73 Pvama1 sequences acquired from the China-Myanmar border as well as 615 publically available Pvama1 sequences from seven global P...
November 29, 2016: Parasites & Vectors
https://www.readbyqxmd.com/read/27898835/genomic-prediction-of-barley-hybrid-performance
#20
Norman Philipp, Guozheng Liu, Yusheng Zhao, Sang He, Monika Spiller, Gunther Stiewe, Klaus Pillen, Jochen C Reif, Zuo Li
Hybrid breeding in barley ( L.) offers great opportunities to accelerate the rate of genetic improvement and to boost yield stability. A crucial requirement consists of the efficient selection of superior hybrid combinations. We used comprehensive phenotypic and genomic data from a commercial breeding program with the goal of examining the potential to predict the hybrid performances. The phenotypic data were comprised of replicated grain yield trials for 385 two-way and 408 three-way hybrids evaluated in up to 47 environments...
July 2016: Plant Genome
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