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https://www.readbyqxmd.com/read/28732180/the-role-of-noncoding-genetic-variation-in-isolated-orofacial-clefts
#1
F Thieme, K U Ludwig
In the past decade, medical genetic research has generated multiple discoveries, many of which were obtained via genome-wide association studies (GWASs). A major GWAS finding is that the majority of risk variants for complex traits map to noncoding regions. This has resulted in a paradigm shift in terms of the interpretation of human genomic sequence variation, with more attention now being paid to what was previously termed "junk DNA." Translation of genetic findings into biologically meaningful results requires 1) large-scale and cell-specific efforts to annotate non-protein-coding regions and 2) the integration of comprehensive genomic data sets...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28732076/eincr1-is-an-egf-inducible-lincrna-overexpressed-in-lung-adenocarcinomas
#2
Karol Nowicki-Osuch, Yaoyong Li, Mairi Challinor, David T Gerrard, Neil A Hanley, Andrew D Sharrocks
Long non-coding RNAs are being increasingly recognised as important molecules involved in regulating a diverse array of biological functions. For example, many long non-coding RNAs have been associated with tumourigenesis and in this context their molecular functions often involves impacting on chromatin and transcriptional control processes. One important cellular control system that is often deregulated in cancer cells is the ERK MAP kinase pathway. Here we have investigated whether ERK pathway signaling in response to EGF stimulation, leads to changes in the production of long non-coding RNAs...
2017: PloS One
https://www.readbyqxmd.com/read/28732062/a-drosophila-model-for-toxicogenomics-genetic-variation-in-susceptibility-to-heavy-metal-exposure
#3
Shanshan Zhou, Sarah E Luoma, Genevieve E St Armour, Esha Thakkar, Trudy F C Mackay, Robert R H Anholt
The genetic factors that give rise to variation in susceptibility to environmental toxins remain largely unexplored. Studies on genetic variation in susceptibility to environmental toxins are challenging in human populations, due to the variety of clinical symptoms and difficulty in determining which symptoms causally result from toxic exposure; uncontrolled environments, often with exposure to multiple toxicants; and difficulty in relating phenotypic effect size to toxic dose, especially when symptoms become manifest with a substantial time lag...
July 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28731554/evaluation-of-a-healthiness-rating-system-for-food-outlet-types-in-australian-residential-communities
#4
Hamid Moayyed, Bridget Kelly, Xiaoqi Feng, Victoria Flood
AIM: To obtain expert consensus to develop and evaluate a rating system on the relative healthiness of Australian suburbs' food outlet types. METHODS: Twenty-four food outlet types and 10 local suburbs were identified from previous mapping studies and based on a scan of suburbs across one large Australian geographical region. Initial food outlet 'scores' for relative healthiness were proposed based on available literature, classified into five categories, from 'most' to 'least' healthy...
February 2017: Nutrition & Dietetics: the Journal of the Dietitians Association of Australia
https://www.readbyqxmd.com/read/28731059/optical-coherence-tomography-detection-of-characteristic-retinal-nerve-fiber-layer-thinning-in-nasal-hypoplasia-of-the-optic-disc
#5
M Haruta, R Kodama, R Yamakawa
PurposeTo determine the clinical usefulness of optical coherence tomography (OCT) for detecting thinning of the retinal nerve fiber layer (RNFL) in eyes with nasal hypoplasia of the optic discs (NHOD).Patients and methodsThe medical records of five patients (eight eyes) with NHOD were reviewed. The ratio of the disc-macula distance to the disc diameter (DM/DD) and the disc ovality ratio of the minimal to maximal DD were assessed using fundus photographs. The RNFL thicknesses of the temporal, superior, nasal, and inferior quadrants were evaluated using OCT quadrant maps...
July 21, 2017: Eye
https://www.readbyqxmd.com/read/28730846/spectral-behavior-of-white-pigment-mixtures-using-reflectance-ultraviolet-fluorescence-spectroscopy-and-multispectral-imaging
#6
Lucilla Pronti, Anna Candida Felici, Matthieu Ménager, Cathy Vieillescazes, Mario Piacentini
Reflectance spectroscopy, ultraviolet (UV)-fluorescence spectroscopy, and multispectral imaging have been widely employed for pigment identification on paintings. From ancient times to the present, lead white, zinc white, and titanium white have been the most important white pigments used for paintings and they are used as pigment markers for dating a work of art. The spectral behavior of these pigments is reported in several scientific papers and websites, but those of their mixtures are quite unknown. We present a combined nondestructive approach for identifying mixtures of lead white, zinc white, and titanium white as powder and dispersed in two different binder media (egg yolk and linseed oil) by using reflectance spectroscopy, spectrofluorimetry, multispectral reflectance and UV-fluorescence imaging...
January 1, 2017: Applied Spectroscopy
https://www.readbyqxmd.com/read/28730712/slow-conduction-through-an-arc-of-block-a-basis-for-arrhythmia-formation-post-myocardial-infarction
#7
Eugene Patterson, Benjamin J Scherlag, Edward J Berbari, Ralph Lazzara
INTRODUCTION: The electrophysiologic basis for characteristic rate-dependent, constant-late-coupled (390+54 msec) premature ventricular beats (PVBs) present 4-5 days following coronary artery occlusion were examined in 108 anesthetized dogs. METHODS AND RESULTS: Fractionated/double potentials were observed in injured zone bipolar and composite electrograms at prolonged sinus cycle lengths (1296 ± 396 msec). At shorter cycle lengths, conduction of the delayed potential decremented, separating from the initial electrogram by a progressively prolonged isoelectric interval...
July 21, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28730651/a-comparison-of-the-electrophysiologic-and-electroanatomic-characteristics-between-the-right-and-left-atrium-in-persistent-atrial-fibrillation-is-the-right-atrium-a-window-into-the-left
#8
Sandeep Prabhu, Aleksandr Voskoboinik, Alex Ja McLellan, Kah Y Peck, Bupesh Pathik, Chrishan J Nalliah, Geoff R Wong, Sonia M Azzopardi, Geoffrey Lee, Justin Mariani, Liang-Han Ling, Andrew J Taylor, Jonathan M Kalman, Peter M Kistler
INTRODUCTION: The right atrium (RA) is readily accessible; however, it is unclear whether changes in the RA are representative of the LA. We performed detailed bi-atrial electroanatomic mapping to determine the electrophysiological relationship between the atria. METHODS AND RESULTS: Consecutive patients with persistent AF underwent bi-atrial electroanatomical mapping with a contact force catheter acquiring points with a CF > 10 g prior to ablation. Points were analyzed for tissue voltage, complex electrograms, low voltage (< 0...
July 21, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28730464/genome-wide-association-mapping-of-canopy-wilting-in-diverse-soybean-genotypes
#9
Avjinder S Kaler, Jeffery D Ray, William T Schapaugh, C Andy King, Larry C Purcell
Genome-wide association analysis identified 61 SNP markers for canopy wilting, which likely tagged 51 different loci. Based on the allelic effects of the significant SNPs, the slowest and fastest wilting genotypes were identified. Drought stress is a major global constraint for crop production, and slow canopy wilting is a promising trait for improving drought tolerance. The objective of this study was to identify genetic loci associated with canopy wilting and to confirm those loci with previously reported canopy wilting QTLs...
July 20, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28730412/gns4-a-novel-allele-of-dwarf11-regulates-grain-number-and-grain-size-in-a-high-yield-rice-variety
#10
Yong Zhou, Yajun Tao, Jinyan Zhu, Jun Miao, Jun Liu, Yanhua Liu, Chuandeng Yi, Zefeng Yang, Zhiyun Gong, Guohua Liang
BACKGROUND: Rice plays an extremely important role in food safety because it feeds more than half of the world's population. Rice grain yield depends on biomass and the harvest index. An important strategy to break through the rice grain yield ceiling is to increase the biological yield. Therefore, genes associated with organ size are important targets for rice breeding. RESULTS: We characterized a rice mutant gns4 (grain number and size on chromosome 4) with reduced organ size, fewer grains per panicle, and smaller grains compared with those of WT...
December 2017: Rice
https://www.readbyqxmd.com/read/28730301/biopsychosocial-factors-predict-quality-of-life-in-thoracolumbar-spine-surgery
#11
Dean A Tripp, Edward Abraham, Maude Lambert, Kate Wagg, Erin Bigney, Eden Daly, Phylicia Verreault, Neil Manson
PURPOSE: Surgical intervention is a treatment option for various spinal pathology but many patients report no improvement or even an exacerbation of symptoms like pain. This study examined the association of preoperative (pre-op) biopsychosocial risk factors with poor quality of life at 2 and 6 months using hierarchical models controlling demographic and medical variables. METHOD: Participants undergoing thoracolumbar spine surgery (N = 214) were provided with questionnaire packages to complete pre-op, at 2 and at 6-month postoperative clinical follow-ups (i...
July 20, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28729943/relationship-between-cerebellar-structure-and-emotional-memory-in-depression
#12
Li-Yan Xu, Fang-Cheng Xu, Can Liu, Yi-Fu Ji, Jin-Min Wu, Ying Wang, Hai-Bao Wang, Yong-Qiang Yu
BACKGROUND: A few studies have been conducted on the relationship between cerebellar volume and emotional memory or clinical severity in major depressive disorder (MDD). In this study, we aimed to compare the volume and density of the cerebellar gray matter (GM) in patients with MDD and in healthy controls (HCs) and explore the association between these cerebellar parameters and measurements of emotional memory and clinical severity. METHOD: Voxel-based morphometry (VBM) and Individual Brain Atlases using Statistical Parametric Mapping (IBASPM) were used to assess GM density and volume in the cerebellum, respectively, in patients with MDD and the HCs...
July 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28729935/single-trial-eeg-informed-fmri-analysis-of-emotional-decision-problems-in-hot-executive-function
#13
Qian Guo, Tiantong Zhou, Wenjie Li, Li Dong, Suhong Wang, Ling Zou
BACKGROUND: Executive function refers to conscious control in psychological process which relates to thinking and action. Emotional decision is a part of hot executive function and contains emotion and logic elements. As a kind of important social adaptation ability, more and more attention has been paid in recent years. OBJECTIVE: Gambling task can be well performed in the study of emotional decision. As fMRI researches focused on gambling task show not completely consistent brain activation regions, this study adopted EEG-fMRI fusion technology to reveal brain neural activity related with feedback stimuli...
July 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28729877/genetic-diversity-population-structure-and-linkage-disequilibrium-of-an-association-mapping-panel-revealed-by-genome-wide-snp-markers-in-sesame
#14
Chengqi Cui, Hongxian Mei, Yanyang Liu, Haiyang Zhang, Yongzhan Zheng
The characterization of genetic diversity and population structure can be used in tandem to detect reliable phenotype-genotype associations. In the present study, we genotyped a set of 366 sesame germplasm accessions by using 89,924 single-nucleotide polymorphisms (SNPs). The number of SNPs on each chromosome was consistent with the physical length of the respective chromosome, and the average marker density was approximately 2.67 kb/SNP. The genetic diversity analysis showed that the average nucleotide diversity of the panel was 1...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28729732/evidence-of-selection-on-splicing-associated-loci-in-human-populations-and-relevance-to-disease-loci-mapping
#15
Eric R Gamazon, Anuar Konkashbaev, Eske M Derks, Nancy J Cox, Younghee Lee
We performed a whole-genome scan of genetic variants in splicing regulatory elements (SREs) and evaluated the extent to which natural selection has shaped extant patterns of variation in SREs. We investigated the degree of differentiation of single nucleotide polymorphisms (SNPs) in SREs among human populations and applied long-range haplotype- and multilocus allelic differentiation-based methods to detect selection signatures. We describe an approach, sampling a large number of loci across the genome from functional classes and using the consensus from multiple tests, for identifying candidates for selection signals...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729714/maize-zea-mays-l-genome-size-indicated-by-180-bp-knob-abundance-is-associated-with-flowering-time
#16
Yinqiao Jian, Cheng Xu, Zifeng Guo, Shanhong Wang, Yunbi Xu, Cheng Zou
Flowering time is considered one of the most important agronomic traits in maize (Zea mays L.), and previous studies have indicated that this trait is correlated with genome size. We observed a significant difference in genome size between tropical and temperate inbred lines and a moderate positive correlation between genome size and 180-bp knob abundance determined by high-throughput sequencing in maize inbred lines in this study. We assembled the reads that were mapped to 180-bp knob sequences and found that the top ten abundant 180-bp knob sequences are highly variable...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729405/super-enhancer-analysis-defines-novel-epigenomic-subtypes-of-non-apl-aml-including-an-rar%C3%AE-dependency-targetable-by-sy-1425-a-potent-and-selective-rar%C3%AE-agonist
#17
Michael R McKeown, M Ryan Corces, Matthew L Eaton, Chris Fiore, Emily Lee, Jeremy T Lopez, Mei Wei Chen, Darren Smith, Steven M Chan, Julie L Koenig, Kathryn Austgen, Matt G Guenther, David A Orlando, Jakob Lovén, Christian C Fritz, Ravindra Majeti
We characterized the enhancer landscape of 66 AML patients, identifying 6 novel subgroups and their associated regulatory loci. These subgroups are defined by their super-enhancer (SE) maps, orthogonal to somatic mutations, and are associated with distinct leukemic cell states. Examination of transcriptional drivers for these epigenomic subtypes uncovers a subset of patients with a particularly strong super-enhancer at the retinoic acid receptor alpha (RARA) gene locus. Presence of a RARA SE and concomitant high levels of RARA mRNA predisposes cell lines and ex vivo models to exquisite sensitivity to a selective agonist of RARα, SY-1425 (tamibarotene)...
July 20, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28729293/3d-pseudocontinuous-arterial-spin-labeling-mr-imaging-in-the-preoperative-evaluation-of-gliomas
#18
Q Zeng, B Jiang, F Shi, C Ling, F Dong, J Zhang
BACKGROUND AND PURPOSE: Previous studies showed conflicting results concerning the value of CBF maps obtained from arterial spin-labeling MR imaging in grading gliomas. This study was performed to investigate the effectiveness of CBF maps derived from 3D pseudocontinuous arterial spin-labeling in preoperatively assessing the grade, cellular proliferation, and prognosis of gliomas. MATERIALS AND METHODS: Fifty-eight patients with pathologically confirmed gliomas underwent preoperative 3D pseudocontinuous arterial spin-labeling...
July 20, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28729114/altered-intrinsic-functional-connectivity-in-the-latent-period-of-epileptogenesis-in-a-temporal-lobe-epilepsy-model
#19
Hyoin Lee, Seungmoon Jung, Peter Lee, Yong Jeong
The latent period, a seizure-free phase, is the duration between brain injury and the onset of spontaneous recurrent seizures (SRSs) during epileptogenesis. The latent period is thought to involve several progressive pathophysiological events that lead to the evolution of the chronic epilepsy phase. Hence, it is vital to investigate the changes in the latent period during epileptogenesis in order to better understand temporal lobe epilepsy (TLE), and to achieve early diagnosis and appropriate management of the condition...
July 17, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28728987/genetic-analysis-of-virulence-in-the-pyrenophora-teres-f-teres-population-bb25-%C3%A3-fgoh04ptt-21
#20
Vaidehi M Koladia, Jonathan K Richards, Nathan A Wyatt, Justin D Faris, Robert S Brueggeman, Timothy L Friesen
Pyrenophora teres f. teres is the causal agent of net form net blotch (NFNB) of barley. In order to map the genetics of avirulence/virulence in P. teres f. teres, a fungal population was developed using P. teres f. teres isolates BB25 (Denmark) and FGOH04Ptt-21 (North Dakota, USA) due to these two isolates differing in virulence on several common barley lines. 109 progeny isolates were obtained from the BB25 by FGOH04Ptt-21 cross that were then used for NFNB disease evaluation across eight barley lines, four of which have been used commonly as NFNB differential lines as well as four cultivars commonly used in barley production in the Northern Great Plains...
July 17, 2017: Fungal Genetics and Biology: FG & B
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