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Association mapping

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https://www.readbyqxmd.com/read/28636133/association-of-chronic-hypertension-with-birth-of-small-for-gestational-age-neonates
#1
Anca M Panaitescu, Ahmet A Baschat, Ranjit Akolekar, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To examine the effect of chronic hypertension (CH), with and without superimposed preeclampsia (PE), on the incidence of small for gestational age (SGA) neonates, and explore possible mechanisms for such association. METHODS: The data for the study were derived from prospective screening for adverse pregnancy outcomes in women with singleton pregnancies attending for their first routine hospital visit at 11-13 weeks' gestation, which included recording of maternal characteristics and medical history and measurement of mean arterial pressure (MAP)...
June 21, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28635630/development-of-a-high-density-snp-based-linkage-map-and-detection-of-qtl-for-%C3%AE-glucans-protein-content-grain-yield-per-spike-and-heading-time-in-durum-wheat
#2
Ilaria Marcotuli, Agata Gadaleta, Giacomo Mangini, Antonio Massimo Signorile, Silvana Addolorata Zacheo, Antonio Blanco, Rosanna Simeone, Pasqualina Colasuonno
High-density genetic linkage maps of crop species are particularly useful in detecting qualitative and quantitative trait loci for important agronomic traits and in improving the power of classical approaches to identify candidate genes. The aim of this study was to develop a high-density genetic linkage map in a durum wheat recombinant inbred lines population (RIL) derived from two elite wheat cultivars and to identify, characterize and correlate Quantitative Trait Loci (QTL) for β-glucan, protein content, grain yield per spike and heading time...
June 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#3
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28634305/data-driven-extraction-of-a-nested-model-of-human-brain-function
#4
Taylor Bolt, Jason S Nomi, B T Thomas Yeo, Lucina Q Uddin
Decades of cognitive neuroscience research have revealed two basic facts regarding task-driven brain activation patterns. First, distinct patterns of activation occur in response to different task demands. Second, a superordinate, dichotomous pattern of activation/de-activation, is common across a variety of task demands. We explore the possibility that a hierarchical model incorporates these two observed brain activation phenomena into a unifying framework. We apply a latent variable approach, exploratory bi-factor analysis, to a large set of human (both sexes) brain activation maps (n = 108) encompassing cognition, perception, action and emotion behavioral domains, to determine the potential existence of a nested structure of factors that underlies a variety of commonly observed activation patterns...
June 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28634244/simple-expression-domains-are-regulated-by-discrete-crms-during-drosophila-oogenesis
#5
Nicole T Revaitis, Robert A Marmion, Maira Farhat, Vesile Ekiz, Wei Wang, Nir Yakoby
Eggshell patterning has been extensively studied in Drosophila melanogaster However, the cis-regulatory modules (CRMs), which control spatiotemporal expression of these patterns, are vastly unexplored. The FlyLight collection contains over 7,000 intergenic and intronic DNA fragments that, if containing CRMs, can drive the transcription factor GAL4. We cross-listed the 84 genes known to be expressed during D. melanogaster oogenesis with the ~1200 listed genes of the FlyLight collection, and found 22 common genes that are represented by 281 FlyLight fly lines...
June 20, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28634122/mapping-the-binding-interface-in-a-non-covalent-size-variant-of-a-monoclonal-antibody-using-native-mass-spectrometry-hydrogen-deuterium-exchange-mass-spectrometry-and-computational-analysis
#6
Yuetian Yan, Hui Wei, Sutjano Jusuf, Stanley R Krystek, Jie Chen, Guodong Chen, Richard T Ludwig, Li Tao, Tapan K Das
Variants of monoclonal antibody containing an extra light chain has been reported in protein products(1-3). Due to potential impact on potency and immunogenicity, it is important to understand the formation mechanism of such variants so that appropriate control strategies can be implemented to assure product quality. In a model monoclonal antibody, we observed a size variant with an extra light chain non-covalently associated with the monomer (later named as "1.2mer"). The interaction between monomer and the extra light chain was characterized by native spray and hydrogen/deuterium exchange mass spectrometry (HDX MS) techniques...
June 17, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28634041/a-machine-learning-algorithm-toward-color-analysis-for-chronic-liver-disease-classification-employing-ultrasound-shear-wave-elastography
#7
Ilias Gatos, Stavros Tsantis, Stavros Spiliopoulos, Dimitris Karnabatidis, Ioannis Theotokas, Pavlos Zoumpoulis, Thanasis Loupas, John D Hazle, George C Kagadis
The purpose of the present study was to employ a computer-aided diagnosis system that classifies chronic liver disease (CLD) using ultrasound shear wave elastography (SWE) imaging, with a stiffness value-clustering and machine-learning algorithm. A clinical data set of 126 patients (56 healthy controls, 70 with CLD) was analyzed. First, an RGB-to-stiffness inverse mapping technique was employed. A five-cluster segmentation was then performed associating corresponding different-color regions with certain stiffness value ranges acquired from the SWE manufacturer-provided color bar...
June 17, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28634025/impaired-cerebral-autoregulation-in-preoperative-newborn-infants-with-congenital-heart-disease
#8
Jodie K Votava-Smith, Christopher J Statile, Michael D Taylor, Eileen C King, Jesse M Pratt, David P Nelson, Erik C Michelfelder
OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633642/prediction-and-analysis-of-three-gene-families-related-to-leaf-rust-puccinia-triticina-resistance-in-wheat-triticum-aestivum-l
#9
Fred Y Peng, Rong-Cai Yang
BACKGROUND: The resistance to leaf rust (Lr) caused by Puccinia triticina in wheat (Triticum aestivum L.) has been well studied over the past decades with over 70 Lr genes being mapped on different chromosomes and numerous QTLs (quantitative trait loci) being detected or mapped using DNA markers. Such resistance is often divided into race-specific and race-nonspecific resistance. The race-nonspecific resistance can be further divided into resistance to most or all races of the same pathogen and resistance to multiple pathogens...
June 20, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28633624/the-automatic-mapping-of-magnitude-to-temporal-order-is-space-dependent
#10
Shachar Ben-Meir, Dana Ganor-Stern, Joseph Tzelgov
Past research has shown that performance in ordinal magnitude tasks is enhanced when stimuli are presented in ascending order, suggesting that magnitude is mapped to temporal order, with small magnitude associated with early and large with late presentation. The present study addresses the automaticity of this effect and its limitations. We used the "same/different" task for numbers (Experiment 1) and physical sizes of shapes (Experiment 2) as well as identity of shapes (Experiment 3). The advantage for stimuli in ascending order was found for both numbers and physical sizes of shapes...
May 2017: Experimental Psychology
https://www.readbyqxmd.com/read/28632760/the-development-of-acquired-equivalence-from-childhood-to-adulthood-a-cross-sectional-study-of-265-subjects
#11
Gábor Braunitzer, Attila Őze, Gabriella Eördegh, Anna Pihokker, Petra Rózsa, László Kasik, Szabolcs Kéri, Attila Nagy
Acquired equivalence (AE) is a form of feedback-based associative learning where the subject learns that two or more stimuli are equivalent in terms of being mapped onto the same outcomes or responses. While several studies dealt with how various neurological and psychiatric conditions affect performance on AE tasks (typically with small populations), studies dealing with AE in healthy subjects are rare, and no study has ever made an attempt to plot the development of this form of learning from the childhood through adulthood...
2017: PloS One
https://www.readbyqxmd.com/read/28632039/thiocyanate-a-review-and-evaluation-of-the-kinetics-and-the-modes-of-action-for-thyroid-hormone-perturbations
#12
Marie-Emilie Willemin, Annie Lumen
Exposure of the population to thiocyanate is predominantly through the diet and cigarette smoke. Thiocyanate is a potential thyroid disruptor due to its capacity to inhibit the uptake of iodide by the thyroid. Thiocyanate also interacts with the enzymatic reactions associated with iodide organification and thyroid hormone synthesis. Quantification of the dose-response relationships of thiocyanate and alteration in thyroid hormone levels is important for evaluating the risk of exposure to thiocyanate in humans...
March 6, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/28632007/what-do-medical-students-do-for-self-care-a-student-centered-approach-to-well-being
#13
Erin E Ayala, Aisha M Omorodion, Dennis Nmecha, Jeffrey S Winseman, Hyacinth R C Mason
Phenomenon: Despite the promotion of medical student health and wellness through recent program and curricular changes, research continues to show that medical education is associated with decreased well-being in medical students. Although many institutions have sought to more effectively assess and improve self-care in medical students, no self-care initiatives have been designed using the explicit perspectives of students themselves. APPROACH: Using concept mapping methodology, the research team created a student-generated taxonomy of self-care behaviors taken from a national sample of medical students in response to a brainstorming prompt...
February 16, 2017: Teaching and Learning in Medicine
https://www.readbyqxmd.com/read/28631747/optimization-of-the-mean-arterial-pressure-and-timing-of-surgical-decompression-in-traumatic-spinal-cord-injury-a-retrospective-study
#14
A Dakson, D Brandman, G Thibault-Halman, S D Christie
STUDY DESIGN: A retrospective comparative study. OBJECTIVES: This study aims to investigate the extent to which early surgical decompression and maintenance of MAP ⩾85 mm Hg for 5 days postinjury affected neurological recovery utilizing internal controls for comparison of outcomes in patients with traumatic spinal cord injury. SETTING: Acute trauma center, Halifax, Nova Scotia, Canada. METHODS: We identified 94 cases of traumatic SCI...
June 20, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28631354/cross-population-myelination-covariance-of-human-cerebral-cortex
#15
Zhiwei Ma, Nanyin Zhang
Cross-population covariance of brain morphometric quantities provides a measure of interareal connectivity, as it is believed to be determined by the coordinated neurodevelopment of connected brain regions. Although useful, structural covariance analysis predominantly employed bulky morphological measures with mixed compartments, whereas studies of the structural covariance of any specific subdivisions such as myelin are rare. Characterizing myelination covariance is of interest, as it will reveal connectivity patterns determined by coordinated development of myeloarchitecture between brain regions...
June 20, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28631147/the-motor-cortical-representation-of-a-muscle-is-not-homogeneous-in-brain-connectivity
#16
Jo Armour Smith, Alaa Albishi, Sarine Babikian, Skulpan Asavasopon, Beth E Fisher, Jason J Kutch
Functional connectivity patterns of the motor cortical representational area of single muscles have not been extensively mapped in humans, particularly for the axial musculature. Functional connectivity may provide a neural substrate for adaptation of muscle activity in axial muscles that have both voluntary and postural functions. The purpose of this study was to combine brain stimulation and neuroimaging to both map the cortical representation of the external oblique (EO) in primary motor cortex (M1) and supplementary motor area (SMA), and to establish the resting-state functional connectivity associated with this representation...
June 19, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28631117/multi-criteria-decision-analysis-to-model-ixodes-ricinus-habitat-suitability
#17
Raphaël Rousseau, Guy McGrath, Barry J McMahon, Sophie O Vanwambeke
Tick-borne diseases present a major threat to both human and livestock health throughout Europe. The risk of infection is directly related to the presence of its vector. Thereby it is important to know their distribution, which is strongly associated with environmental factors: the presence and availability of a suitable habitat, of a suitable climate and of hosts. The present study models the habitat suitability for Ixodes ricinus in Ireland, where data on tick distribution are scarce. Tick habitat suitability was estimated at a coarse scale (10 km) with a multi-criteria decision analysis (MCDA) method according to four different scenarios (depending on the variables used and on the weights granted to each of them)...
June 19, 2017: EcoHealth
https://www.readbyqxmd.com/read/28630682/overexpressed-prame-is-a-potential-immunotherapy-target-in-sarcoma-subtypes
#18
Jason Roszik, Wei-Lien Wang, John A Livingston, Christina L Roland, Vinod Ravi, Cassian Yee, Patrick Hwu, Andrew Futreal, Alexander J Lazar, Shreyaskumar R Patel, Anthony P Conley
BACKGROUND: PRAME (preferentially expressed antigen in melanoma), a member of the cancer-testis antigen family, has been shown to have increased expression in solid tumors, including sarcoma, and PRAME-specific therapies are currently in development for other cancers such as melanoma. METHODS: To map the landscape of PRAME expression in sarcoma, we used publicly available data from The Cancer Genome Atlas (TCGA) and the Cancer Cell Line Encyclopedia (CCLE) projects and determined which sarcoma subtypes and subsets are associated with increased PRAME expression...
2017: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/28630289/green-mamba-peptide-targets-type-2-vasopressin-receptor-against-polycystic-kidney-disease
#19
Justyna Ciolek, Helen Reinfrank, Loïc Quinton, Say Viengchareun, Enrico A Stura, Laura Vera, Sabrina Sigismeau, Bernard Mouillac, Hélène Orcel, Steve Peigneur, Jan Tytgat, Laura Droctové, Fabrice Beau, Jerome Nevoux, Marc Lombès, Gilles Mourier, Edwin De Pauw, Denis Servent, Christiane Mendre, Ralph Witzgall, Nicolas Gilles
Polycystic kidney diseases (PKDs) are genetic disorders that can cause renal failure and death in children and adults. Lowering cAMP in cystic tissues through the inhibition of the type-2 vasopressin receptor (V2R) constitutes a validated strategy to reduce disease progression. We identified a peptide from green mamba venom that exhibits nanomolar affinity for the V2R without any activity on 155 other G-protein-coupled receptors or on 15 ionic channels. Mambaquaretin-1 is a full antagonist of the V2R activation pathways studied: cAMP production, beta-arrestin interaction, and MAP kinase activity...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28630253/cold-induced-thermogenesis-and-inflammation-associated-cold-seeking-behavior-are-represented-by-different-dorsomedial-hypothalamic-sites-a-three-dimensional-functional-topography-study-in-conscious-rats
#20
Samuel P Wanner, M Camila Almeida, Yury P Shimansky, Daniela L Oliveira, Justin R Eales, Cândido C Coimbra, Andrej A Romanovsky
In the past, we showed that large electrolytic lesions of the dorsomedial hypothalamus (DMH) promoted hypothermia in cold-exposed restrained rats, but attenuated hypothermia in rats challenged with a high dose of bacterial lipopolysaccharide (LPS) in a thermogradient apparatus. The goal of this study was to identify the thermoeffector mechanisms and DMH representation of the two phenomena and, hence, understand how the same lesion could produce two opposite effects on body temperature. We found that the permissive effect of large electrolytic DMH lesions on cold-induced hypothermia was due to suppressed thermogenesis...
June 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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