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https://www.readbyqxmd.com/read/27933755/maternal-pre-pregnancy-bmi-downregulates-neonatal-cord-blood-lep-methylation
#1
R Kadakia, Y Zheng, Z Zhang, W Zhang, L Hou, J L Josefson
BACKGROUND: Neonatal adiposity has many determinants and may be a risk factor for future obesity. Epigenetic regulation of metabolically important genes is a potential contributor. OBJECTIVES: The objective of the study is to determine whether methylation changes in the LEP gene in cord blood DNA are impacted by the maternal environment or affect neonatal adiposity measures. METHODS: A cross-sectional study of 114 full-term neonates born to healthy mothers with normal glucose tolerance was performed...
December 8, 2016: Pediatric Obesity
https://www.readbyqxmd.com/read/27933721/shared-molecular-networks-in-orofacial-and-neural-tube-development
#2
Youssef A Kousa, Tamer A Mansour, Haitham Seada, Samaneh Matoo, Brian C Schutte
BACKGROUND: Single genetic variants can affect multiple tissues during development. Thus it is possible that disruption of shared gene regulatory networks might underlie syndromic presentations. In this study, we explore this idea through examination of two critical developmental programs that control orofacial and neural tube development and identify shared regulatory factors and networks. Identification of these networks has the potential to yield additional candidate genes for poorly understood developmental disorders and assist in modeling and perhaps managing risk factors to prevent morbidly and mortality...
December 9, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27933712/the-importance-of-mrna-structure-in-determining-the-pathogenicity-of-synonymous-and-non-synonymous-mutations-in-haemophilia
#3
N Hamasaki-Katagiri, B C Lin, J Simon, R C Hunt, T Schiller, E Russek-Cohen, A A Komar, H Bar, C Kimchi-Sarfaty
INTRODUCTION: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing of messenger RNA (mRNA), which can alter mRNA structure, cellular half-life and ribosome processivity/elongation...
December 9, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27933683/genetics-and-the-conservation-of-natural-populations-allozymes-to-genomes
#4
Fred W Allendorf
I consider how the study of genetic variation has influenced efforts to conserve natural populations over the last 50 years. Studies with allozymes in the 1970s provided the first estimates of the amount of genetic variation within and between natural populations at multiple loci. These early studies played an important role in developing plans to conserve species. The description of genetic variation in mitochondrial DNA in the early 1980s laid the foundation for the field of phylogeography, which provided a deeper look in time of the relationships and connectivity among populations...
December 9, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27933676/white-matter-hyperintensities-are-associated-with-disproportionate-progressive-hippocampal-atrophy
#5
Cassidy M Fiford, Emily N Manning, Jonathan W Bartlett, David M Cash, Ian B Malone, Gerard R Ridgway, Manja Lehmann, Kelvin K Leung, Carole Sudre, Sebastien Ourselin, Geert Jan Biessels, Owen T Carmichael, Nick C Fox, M Jorge Cardoso, Josephine Barnes
This study investigates relationships between white matter hyperintensity (WMH) volume, cerebrospinal fluid (CSF) Alzheimer's disease (AD) pathology markers, and brain and hippocampal volume loss. Subjects included 198 controls, 345 Mild Cognitive Impairment (MCI) and 154 AD subjects with serial volumetric 1.5T MRI. CSF Aβ42 and total tau were measured (n=353). Brain and hippocampal loss were quantified from serial MRI using the Boundary Shift Integral (BSI). Multiple linear regression models assessed the relationships between WMHs and hippocampal and brain atrophy rates...
December 9, 2016: Hippocampus
https://www.readbyqxmd.com/read/27933672/single-neuron-activity-and-theta-modulation-in-the-posterior-parietal-cortex-in-a-visuospatial-attention-task
#6
Fang-Chi Yang, T K Jacobson, R D Burwell
The posterior parietal cortex (PPC) is implicated in directing and maintaining visual attention to locations in space. We hypothesized that the PPC also engages other cognitive processes in the transformation of behaviorally relevant visual inputs into appropriate actions, for example, monitoring of multiple locations, selection of responses to locations in space, and monitoring the outcome of response selections. We recorded single cells and local field potentials in the rat PPC during performance on a novel visuospatial attention (VSA) task that requires visually monitoring locations in space in order to make appropriate stimulus-guided locomotor responses...
December 9, 2016: Hippocampus
https://www.readbyqxmd.com/read/27933584/matrine-treatment-blocks-nogoa-induced-neural-inhibitory-signaling-pathway-in-ongoing-experimental-autoimmune-encephalomyelitis
#7
Quan-Cheng Kan, Hui-Jun Zhang, Yuan Zhang, Xing Li, Yu-Ming Xu, Rodolfo Thome, Ming-Liang Zhang, Nan Liu, Yao-Juan Chu, Guang-Xian Zhang, Li Zhu
Myelin-associated inhibitors, such as NogoA, myelin-associated glycoprotein (MAG), and oligodendrocyte myelin glycoprotein (OMgp), play a pivotal role in the lack of neuroregeneration in multiple sclerosis, an inflammatory demyelinating disease of the central nervous system (CNS). Matrine (MAT), a monomer that is used in traditional Chinese medicine as an anti-inflammatory agent, has shown beneficial effects in experimental autoimmune encephalomyelitis (EAE), an animal model of MS. However, the underlying mechanisms of MAT-induced EAE amelioration are not fully understood...
December 9, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27933539/systems-genetics-analysis-of-iron-and-its-regulation-in-brain-and-periphery
#8
Byron C Jones, Leslie C Jellen
In this contribution, we demonstrate the utility of the systems genetics-systems biology approach to the study of iron regulation while employing a comprehensive database. We describe our work in iron regulation in the brain and periphery under normal iron and iron-restricted dietary conditions in the BXD family of recombinant inbred mouse strains. Using multiple measures, we showed wide variation among the strains in the effect of being fed an iron-restricted diet for 100 days in every measure from brain and from the periphery...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933538/systems-genetics-of-liver-fibrosis
#9
Rabea A Hall, Frank Lammert
This systems genetics analysis comprises quantitative measurements of hepatic fibrogenesis in mouse models and mapping of quantitative traits in mouse genetic reference populations. It is part of a large mapping project of fibrogenic genes including the analyses of experimental crosses from different inbred mouse strains. Extensive quantitative trait loci (QTL) mapping of fibrosis phenotypes and liver expression profiling in combination with in silico mapping facilitated the identification of QTL regions and underlying candidate genes that confer fibrosis susceptibility also in humans...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933532/precise-network-modeling-of-systems-genetics-data-using-the-bayesian-network-webserver
#10
Jesse D Ziebarth, Yan Cui
The Bayesian Network Webserver (BNW, http://compbio.uthsc.edu/BNW ) is an integrated platform for Bayesian network modeling of biological datasets. It provides a web-based network modeling environment that seamlessly integrates advanced algorithms for probabilistic causal modeling and reasoning with Bayesian networks. BNW is designed for precise modeling of relatively small networks that contain less than 20 nodes. The structure learning algorithms used by BNW guarantee the discovery of the best (most probable) network structure given the data...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933530/visualization-of-results-from-systems-genetics-studies-in-chromosomal-context
#11
Karen Y Oróstica, Ricardo A Verdugo
This chapter describes methods currently available for visualizing results from systems genetics experiments. Here, we abstract from the statistical methods used for genetic mapping, which are dependent on the specific resource being used, i.e. F2, RILs, or outbred populations among others. We use a public dataset with results from a mouse eQTL experiment for three examples of visualization: genome-wide dot plots of marker-by-gene association, karyotype-like plots, and circos plots. Dot plots give a first overview of the results from eQTL mapping, allowing detecting genome-wide patterns of cis- and trans-genetic association to transcription level...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933528/rna-seq-in-the-collaborative-cross
#12
Richard Green, Courtney Wilkins, Martin T Ferris, Michael Gale
The Collaborative Cross (CC) is a large panel of inbred mouse strains currently being developed for multiple areas of research. Scientists are taking integrated omics-style approaches to collecting data in order to obtain a deeper understanding of the biological mechanisms underlying a number of diverse disease phenotypes. As the cost of the next generation sequencing (NGS) decreases, RNA-sequencing (RNA-seq) has become the favored approach to transcriptomic analyses versus microarrays due to increases in sensitivity and resolution...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933523/integrative-functional-genomics-for-systems-genetics-in-geneweaver-org
#13
Jason A Bubier, Michael A Langston, Erich J Baker, Elissa J Chesler
The abundance of existing functional genomics studies permits an integrative approach to interpreting and resolving the results of diverse systems genetics studies. However, a major challenge lies in assembling and harmonizing heterogeneous data sets across species for facile comparison to the positional candidate genes and coexpression networks that come from systems genetic studies. GeneWeaver is an online database and suite of tools at www.geneweaver.org that allows for fast aggregation and analysis of gene set-centric data...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933507/determinants-of-maternal-vitamin%C3%A2-d-concentrations-in-slovenia-a%C3%A2-prospective-observational-study
#14
Andraž Dovnik, Faris Mujezinović, Milena Treiber, Breda Pečovnik Balon, Maksimiljan Gorenjak, Uroš Maver, Iztok Takač
OBJECTIVE: To analyze the vitamin D status of pregnant women in Slovenia and the factors influencing it. METHODS: The study was performed in Maribor University Medical Centre (location 46°N). Maternal serum 25-hydroxy-vitamin D (25(OH)D) in 4 groups of 100 pregnant women in 4 different seasons of the year was measured at the time of delivery. Data on life style, eating habits, sunbathing and intake of vitamin D supplements during pregnancy were obtained using a questionnaire...
December 8, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27933467/osteosarcoma-overview
#15
REVIEW
Brock A Lindsey, Justin E Markel, Eugenie S Kleinerman
Osteosarcoma (OS) is the most common primary malignancy of bone and patients with metastatic disease or recurrences continue to have very poor outcomes. Unfortunately, little prognostic improvement has been generated from the last 20 years of research and a new perspective is warranted. OS is extremely heterogeneous in both its origins and manifestations. Although multiple associations have been made between the development of osteosarcoma and race, gender, age, various genomic alterations, and exposure situations among others, the etiology remains unclear and controversial...
December 8, 2016: Rheumatology and Therapy
https://www.readbyqxmd.com/read/27933429/establishing-the-values-for-patient-engagement-pe-in-health-related-quality-of-life-hrqol-research-an-international-multiple-stakeholder-perspective
#16
Kirstie Haywood, Anne Lyddiatt, Samantha J Brace-McDonnell, Sophie Staniszewska, Sam Salek
PURPOSE: Active patient engagement is increasingly viewed as essential to ensuring that patient-driven perspectives are considered throughout the research process. However, guidance for patient engagement (PE) in HRQoL research does not exist, the evidence-base for practice is limited, and we know relatively little about underpinning values that can impact on PE practice. This is the first study to explore the values that should underpin PE in contemporary HRQoL research to help inform future good practice guidance...
December 8, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27933415/association-between-gamma-glutamyltransferase-and-albuminuria-in-nondiabetic-adults-with-normal-renal-function
#17
Sun-Hye Ko, Myong Ki Baeg, Kyung-Do Han, Seung-Yeon Ko, Sae-Bom Shin, Seung-Hyun Ko, Yu-Bae Ahn
BACKGROUND: Serum gamma-glutamyltransferase (GGT) has been associated with albuminuria in diabetes patients, but it has not been investigated in the general population. We aimed to investigate the association between serum GGT and albuminuria in the nondiabetic Korean population with normal kidney function. METHODS: Study participants (3948; 1549 men and 2399 women) with an estimated glomerular filtration rate ≥60 mL/min/1.73 m(2) were analyzed from the fifth Korean National Health and Nutrition Examination Survey (2011)...
December 9, 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/27933412/genetic-diversity-study-on-12-x-str-loci-of-investigator%C3%A2-argus-x-str-kit-in-bangladeshi-population
#18
Abu Sufian, Md Ismail Hosen, Kaniz Fatema, Tania Hossain, Md Mahamud Hasan, Ashish Kumar Mazumder, Sharif Akhteruzzaman
The X-chromosome short tandem repeat (STR) loci are of particular interest for solving complex kinship and paternity cases. Here, we report the genetic data from 209 unrelated Bangladeshi individuals (102 males and 107 females) that were genotyped using the 12 X-chromosomal STR markers included in the Investigator® Argus X-12 kit (Qiagen). The 12 X-STR markers are located in four linkage groups (linkage group I: DXS10135, DXS10148, and DXS8378; linkage group II: DXS7132, DXS10079, and DXS10074; linkage group III: DXS10103, HPRTB, and DXS10101; and linkage group IV: DXS10146, DXS10134, and DXS7423)...
December 8, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27933409/imaging-trends-in-suspected-appendicitis-a-canadian-perspective
#19
Victoria F Tan, Michael N Patlas, Douglas S Katz
PURPOSE: The purpose of our study was to assess trends in the imaging of suspected appendicitis in adult patients in emergency departments of academic centers in Canada. METHODS: A questionnaire was sent to all 17 academic centers in Canada to be completed by a radiologist who works in emergency radiology. The questionnaires were sent and collected over a period of 4 months from October 2015 to February 2016. RESULTS: Sixteen centers (94%) responded to the questionnaire...
December 8, 2016: Emergency Radiology
https://www.readbyqxmd.com/read/27933382/the-impact-of-hereditary-multiple-exostoses-on-quality-of-life-satisfaction-global-health-status-and-pain
#20
Riccardo D'Ambrosi, Vincenza Ragone, Camilla Caldarini, Nicola Serra, Federico Giuseppe Usuelli, Renato Mario Facchini
PURPOSE: The aim of the study was to evaluate quality of life (QOL), global health status, pain, and level of satisfaction in patients with hereditary multiple exostoses (HME), and to correlate the association between the severity of diseases and age, sex, number of surgical procedures, and number of exostoses. METHODS: The data of 50 patients with HME were retrospectively evaluated and recorded. QOL was evaluated with the Short-Form Health Survey (SF-12) questionnaire, the 12-Item General Health Questionnaire (GHQ-12), and Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF); intensity of pain was measured using the visual analogue scale (VAS)...
December 8, 2016: Archives of Orthopaedic and Trauma Surgery
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