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https://www.readbyqxmd.com/read/28449558/in-silicomodel-driven-assessment-of-the-effects-of-brain-derived-neurotrophic-factor-deficiency-on-glutamate-and-gamma-aminobutyric-acid-implications-for-understanding-schizophrenia-pathophysiology
#1
Rimjhim Agrawal, Sunil Vasu Kalmady, Ganesan Venkatasubramanian
Objective: Deficient brain-derived neurotrophic factor (BDNF) is one of the important mechanisms underlying the neuroplasticity abnormalities in schizophrenia. Aberration in BDNF signaling pathways directly or circuitously influences neurotransmitters like glutamate and gamma-aminobutyric acid (GABA). For the first time, this study attempts to construct and simulate the BDNF-neurotransmitter network in order to assess the effects of BDNF deficiency on glutamate and GABA. Methods: Using CellDesigner, we modeled BDNF interactions with calcium influx via N-methyl-D-aspartate receptor (NMDAR)- Calmodulin activation; synthesis of GABA via cell cycle regulators protein kinase B, glycogen synthase kinase and β-catenin; transportation of glutamate and GABA...
May 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28449408/prediabetes-is-associated-with%C3%A2-genetic-variations-in-the-kir6-2-subunit%C3%A2-kcnj11-%C3%A2-of-pancreatic-atp-sensitive-potassium-channel-gene-a-case-control-study-in-youth-han-chinese-population
#2
Min Xu, Honglin Hu, Datong Deng, Mingwei Chen, Zhenshan Xu, Youmin Wang
BACKGROUND: E23K variant of the KCNJ11 has been reported to be associated with type 2 diabetes in multiple populations. However, little is known about the role of E23K polymorphism of the KCNJ11 in the development of prediabetes in youth in China. METHODS: To this end, we recruited 279 subjects with prediabetes and 240 normal controls. RESULTS: We found that prediabetic Chinese youth exhibited higher carrier rate of K23-allele-containing genotypes than control subjects (p = 0...
April 27, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#3
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28449375/the-genetic-dimension-of-pest-pressure-in-the-tropical-rainforest
#4
Marco Todesco, Quentin Cronk
Wet tropical forests are among the most diverse ecosystems on Earth and can host several hundreds of tree species per hectare. To maintain such diversity, the community must contain large numbers of relatively rare species rather than be dominated by a few very common trees, as is often the case in temperate forests. Explaining the mechanisms preventing dominance by common species has been a major task of tropical forest ecology. One of the most promising mechanisms is negative density dependence (NDD) of tree abundance driven by pests, including fungal diseases ('pest pressure')...
May 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28449374/genetic-variability-in-adenosine-deaminase-like-contributes-to-variation-in-alcohol-preference-in-mice
#5
Heidi M B Lesscher, Alexis Bailey, Louk J M J Vanderschuren
BACKGROUND: A substantial part of the risk for alcohol use disorder (AUD) is determined by genetic factors. We previously used chromosome substitution (CSS) mice, to identify a QTL for alcohol preference on mouse chromosome 2. The aim of this study was to identify candidate genes within this QTL that confer the risk for alcohol preference. METHODS: In order to delineate the neurobiological underpinnings of alcohol consumption, we expanded on the QTL approach to identify candidate genes for high alcohol preference in mice...
April 27, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28449344/endoscopic-features-and-genetic-background-of-inflammatory-bowel-disease-complicated-with-takayasu-arteritis
#6
Shintaro Akiyama, Toshimitsu Fujii, Katsuyoshi Matsuoka, Ebana Yusuke, Mariko Negi, Kento Takenaka, Masakazu Nagahori, Kazuo Ohtsuka, Mitsuaki Isobe, Mamoru Watanabe
BACKGROUND AND AIM: Takayasu arteritis (TA) is occasionally complicated with inflammatory bowel disease (IBD). This study assessed the endoscopic and genetic features of IBD complicated with TA (IBD-TA). METHODS: This study retrospectively reviewed the clinical charts of 142 TA patients (14 men and 128 women; median age 48.5 years [range, 18-97 years]). Human lymphocyte antigen (HLA) types and a single-nucleotide polymorphism rs6871626 in the IL12B gene were assessed in 101 and 81 patients with TA, respectively...
May 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28449322/a-bacterium-with-close-genetic-identity-to-pseudomonas-mandelii-associated-with-spring-fish-kills-in-wild-bluegill-lepomis-macrochirus-rafinesque-and-pumpkinseed-sunfish-lepomis-gibbosus-linnaeus
#7
J Lovy, D Dicarlo-Emery, J M Hutcheson
Pseudomonas fluorescens are known bacterial pathogens in fish. The P. fluorescens group contains at least nine different bacterial species, although species from fish have rarely been differentiated. Two isolated fish kills affecting wild bluegills, Lepomis macrochirus Rafinesque, and pumpkinseed sunfish, Lepomis gibbosus (Linnaeus), occurred in the spring of 2015 during cool water temperatures (12.5°C-15.5°C). Disease signs included severe bacteraemia with rare gross external signs. Pure bacterial cultures isolated from kidneys of all affected fish were identified as P...
April 27, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28449317/a-comparison-of-individual-based-genetic-distance-metrics-for-landscape-genetics
#8
A J Shirk, E L Landguth, S A Cushman
A major aim of landscape genetics is to understand how landscapes resist gene flow and thereby influence population genetic structure. An empirical understanding of this process provides a wealth of information that can be used to guide conservation and management of species in fragmented landscapes, and also to predict how landscape change may affect population viability. Statistical approaches to infer the true model among competing alternatives are based on the strength of the relationship between pairwise genetic distances and landscape distances among sampled individuals in a population...
April 27, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/28449263/multi-dice-r-package-for-comparative-population-genomic-inference-under-hierarchical-co-demographic-models-of-independent-single-population-size-changes
#9
Alexander T Xue, Michael J Hickerson
Population genetic data from multiple taxa can address comparative phylogeographic questions about community-scale response to environmental shifts, and a useful strategy to this end is to employ hierarchical co-demographic models that directly test multi-taxa hypotheses within a single, unified analysis while benefiting in statistical power from aggregating datasets. This approach has been applied to classical phylogeographic datasets such as mitochondrial barcodes as well as reduced-genome polymorphism datasets that can yield 10,000s of SNPs, produced by emergent technologies such as RAD-seq and GBS...
April 27, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/28449233/an-evaluation-of-the-international-society-for-animal-genetics-recommended-parentage-and-identification-panel-for-the-domestic-pigeon-columba-livia-domestica
#10
M de Groot, W A van Haeringen
In this study, the International Society for Animal Genetics (ISAG) recommended panel for the identification of the domestic pigeon (Columba livia domestica) is characterized based on commonly used statistical parameters. The marker panel is based on 16 short tandem repeat (STR) loci (PIGN15, PIGN10, PIGN57, PIGN26, CliμD16, CliμD19, PIGN12, CliμD17, CliμT17, PIGN04, CliμD01, CliμD11, CliμD35, CliμT02, CliμT13, CliμT43). The alleles of the 16 loci consist of a mixture of tri-, tetra-, penta- and hexameric repeat patterns...
April 27, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#11
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449201/silencing-of-agrobacterium-tumefaciens-oncogenes-ipt-and-iaam-induces-resistance-to-crown-gall-disease-in-plum-but-not-in-apricot
#12
Nuria Alburquerque, Lydia Faize, Lorenzo Burgos
BACKGROUND: In this study two vectors with short-length chimeric transgenes were used to produce Prunus rootstocks resistant to crown gall disease through RNA interference-mediated gene silencing of the Agrobacterium tumefaciens oncogenes ipt and iaaM. RESULTS: Transgenic plum and apricot lines were produced with efficiencies of up to 7.7 and 1.1%, respectively. An in vitro evaluation method allowed identifying susceptible lines and reducing the number of lines to be evaluated in the greenhouse...
April 27, 2017: Pest Management Science
https://www.readbyqxmd.com/read/28449136/-alpha-2-macroglobulin-serum-level-in-patients-with-alpha-1-antitrypsin-deficiency
#13
V Kotke, S Wiedmann, C Nell, C Vogelmeier, R Bals, T Greulich, A Klemmer
Background and objectives Alpha-2 Macroglobulin (A2M) is a plasma protein with proteolytic effects on many proteases. In patients with an inborn alpha-1 antitrypsin deficiency (AATD) the homeostasis between proteases and antiproteases is disturbed. The aim of this study was to compare the levels of AAT and A2 M in patients and controls. We hypothesized that in patients with AATD A2 M levels are elevated. Methods Patients with AATD (polymorphism Pi*ZZ, Pi*SZ, Pi*MZ and rare gene variants) as well as healthy volunteers (Pi*MM) were tested for A2 M and AAT levels...
April 27, 2017: Pneumologie
https://www.readbyqxmd.com/read/28449129/phenotypic-differences-determine-drought-stress-responses-in-ecotypes-of-arundo-donax-adapted-to-different-environments
#14
Mastaneh Ahrar, Dilyana Doneva, Massimiliano Tattini, Cecilia Brunetti, Antonella Gori, Mirco Rodeghiero, Georg Wohlfahrt, Franco Biasioli, Claudio Varotto, Francesco Loreto, Violeta Velikova
Arundo donax has been identified as an important biomass and biofuel crop. Yet, there has been little research on photosynthetic and metabolic traits, which sustain the high productivity of A. donax under drought conditions. This study determined phenotypic differences between two A. donax ecotypes coming from stands with contrasting adaptation to dry climate. We hypothesized that the Bulgarian (BG) ecotype, adapted to drier conditions, exhibits greater drought tolerance than the Italian (IT) ecotype, adapted to a more mesic environment...
April 25, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28449122/up-regulation-of-nced3-and-aba-biosynthesis-occur-within-minutes-of-a-decrease-in-leaf-turgor-but-ahk1-is-not-required
#15
Frances C Sussmilch, Timothy J Brodribb, Scott A M McAdam
A major environmental signal influencing day-time stomatal aperture is the vapour pressure deficit between the leaf and atmosphere (VPD). In angiosperms, increased VPD triggers biosynthesis of abscisic acid (ABA), prompting rapid stomatal closure. Altered cell turgor has been proposed as the trigger for ABA biosynthesis, but the timing and nature of the genetic signals linking these processes have remained uncertain. We investigated this in Arabidopsis by examining changes induced by a decrease in leaf turgor, simulating a natural increase in VPD...
April 25, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28449110/veqtl-mapper-variance-association-mapping-for-molecular-phenotypes
#16
Andrew Anand Brown
Motivation: Genetic loci associated with the variance of phenotypic traits have been of recent interest as they can be signatures of genetic interactions, gene by environment interactions, parent of origin effects and canalisation. We present a fast efficient tool to map loci affecting variance of gene expression and other molecular phenotypes in cis. Results: Applied to the publicly available Geuvadis gene expression dataset, we identify 816 loci associated with variance of gene expression using an additive model, and 32 showing differences in variance between homozygous and heterozygous alleles, signatures of parent of origin effects...
April 25, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28449106/microbiomeanalyst-a-web-based-tool-for-comprehensive-statistical-visual-and-meta-analysis-of-microbiome-data
#17
Achal Dhariwal, Jasmine Chong, Salam Habib, Irah L King, Luis B Agellon, Jianguo Xia
The widespread application of next-generation sequencing technologies has revolutionized microbiome research by enabling high-throughput profiling of the genetic contents of microbial communities. How to analyze the resulting large complex datasets remains a key challenge in current microbiome studies. Over the past decade, powerful computational pipelines and robust protocols have been established to enable efficient raw data processing and annotation. The focus has shifted toward downstream statistical analysis and functional interpretation...
April 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28449091/gwab-a-web-server-for-the-network-based-boosting-of-human-genome-wide-association-data
#18
Jung Eun Shim, Changbae Bang, Sunmo Yang, Tak Lee, Sohyun Hwang, Chan Yeong Kim, U Martin Singh-Blom, Edward M Marcotte, Insuk Lee
During the last decade, genome-wide association studies (GWAS) have represented a major approach to dissect complex human genetic diseases. Due in part to limited statistical power, most studies identify only small numbers of candidate genes that pass the conventional significance thresholds (e.g. P ≤ 5 × 10-8). This limitation can be partly overcome by increasing the sample size, but this comes at a higher cost. Alternatively, weak association signals can be boosted by incorporating independent data. Previously, we demonstrated the feasibility of boosting GWAS disease associations using gene networks...
April 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28449073/genetics-of-phenotypic-plasticity-and-biomass-traits-in-hybrid-willows-across-contrasting-environments-and-years
#19
Sofia Berlin, Henrik R Hallingbäck, Friderike Beyer, Nils-Erik Nordh, Martin Weih, Ann-Christin Rönnberg-Wästljung
Background and Aims: Phenotypic plasticity can affect the geographical distribution of taxa and greatly impact the productivity of crops across contrasting and variable environments. The main objectives of this study were to identify genotype-phenotype associations in key biomass and phenology traits and the strength of phenotypic plasticity of these traits in a short-rotation coppice willow population across multiple years and contrasting environments to facilitate marker-assisted selection for these traits...
April 25, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#20
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
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