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https://www.readbyqxmd.com/read/28110515/missense-variant-in-uba2-associated-with-aplasia-cutis-congenita-duane-anomaly-hip-dysplasia-and-other-anomalies-a-possible-new-disorder-involving-the-sumoylation-pathway
#1
Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola
We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. © 2016 Wiley Periodicals, Inc...
January 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#2
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28110455/influence-of-environmental-and-anthropogenic-factors-at-the-bottom-sediments-in-a-doce-river-tributary-in-brazil
#3
Deyse Almeida Dos Reis, Aníbal da Fonseca Santiago, Laura Pereira Nascimento, Hubert Mathias Peter Roeser
In developing countries, it is uncommon to find watersheds that have been the object of detailed environmental studies. It makes the assessment of the magnitude of environmental impacts and pollution of these sites difficult. This research demonstrated ways to understand the dynamics of river bottom sediments contamination, even for watersheds with a lack of environmental data. Based on geochemical affinity, we conducted a comprehensive study on the concentration of metals and metalloids. Then, we discussed the probable origin of the concentration of these elements at the bottom sediment along the Matipó River...
January 22, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28110450/application-of-a-statistical-model-for-the-assessment-of-environmental-quality-in-neotropical-semi-arid-reservoirs
#4
Evaldo de Lira Azevêdo, José Etham de Lucena Barbosa, Leandro Gomes Viana, Maria José Pinheiro Anacleto, Marcos Callisto, Joseline Molozzi
The aim of this study was to develop a statistical model to assess the environmental quality of reservoirs located in semi-arid region using metrics of anthropogenic disturbance, water quality variables, and benthic macroinvertebrate communities as indicators. The proposed model was applied to 60 sites located in three reservoirs in the Paraíba river basin, Brazilian semi-arid region. Collections were made in December 2011. In each site, we collected one sample of benthic macroinvertebrates and one water sample for the determination of physical and chemical parameters...
February 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28110333/requirements-for-septal-localization-and-chromosome-segregation-activity-of-the-dna-translocase-sfta-from-bacillus-subtilis
#5
Nina El Najjar, Christine Kaimer, Thomas Rösch, Peter L Graumann
Bacillus subtilis possesses 2 DNA translocases that affect late stages of chromosome segregation: SftA separates nonsegregated DNA prior to septum closure, while SpoIIIE rescues septum-entrapped DNA. We provide evidence that SftA is associated with the division machinery via a stretch of 47 amino acids within its N-terminus, suggesting that SftA is recruited by protein-protein interactions with a component of the division machinery. SftA was also recruited to mid-cell in the absence of its first 20 amino acids, which are proposed to contain a membrane-binding motif...
January 21, 2017: Journal of Molecular Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28110276/photosynthesis-in-c3-c4-intermediate-moricandia-species
#6
Urte Schlüter, Andrea Bräutigam, Udo Gowik, Michael Melzer, Pascal-Antoine Christin, Samantha Kurz, Tabea Mettler-Altmann, Andreas Pm Weber
Evolution of C4 photosynthesis is not distributed evenly in the plant kingdom. Particularly interesting is the situation in the Brassicaceae, because the family contains no C4 species, but several C3-C4 intermediates, mainly in the genus Moricandia Investigation of leaf anatomy, gas exchange parameters, the metabolome, and the transcriptome of two C3-C4 intermediate Moricandia species, M. arvensis and M. suffruticosa, and their close C3 relative M. moricandioides enabled us to unravel the specific C3-C4 characteristics in these Moricandia lines...
January 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28110273/shifting-balance-on-a-static-mutation-selection-landscape-a-novel-scenario-of-positive-selection
#7
Christopher T Jones, Noor Youssef, Edward Susko, Joseph P Bielawski
A version of the mechanistic mutation-selection (MutSel) model that accounts for temporal dynamics at a site is presented. This is used to show that the rate ratio dN/dS at a site can be transiently >1 even when fitness coefficients are fixed or the fitness landscape is static. This occurs whenever a site drifts away from its fitness peak and is then forced back by selection, a process reminiscent of shifting balance. Shifting balance is strongest when the substitution process is not dominated by selection or drift, but admits interplay between the two...
November 8, 2016: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28110230/identification-of-the-autotrophic-denitrifying-community-in-nitrate-removal-reactors-by-dna-stable-isotope-probing
#8
Wei Xing, Jinlong Li, Yuan Cong, Wei Gao, Zhongjun Jia, Desheng Li
Autotrophic denitrification has attracted increasing attention for wastewater with insufficient organic carbon sources. Nevertheless, in situ identification of autotrophic denitrifying communities in reactors remains challenging. Here, a process combining micro-electrolysis and autotrophic denitrification with high nitrate removal efficiency was presented. Two batch reactors were fed organic-free nitrate influent, with H(13)CO3(-) and H(12)CO3(-) as inorganic carbon sources. DNA-based stable-isotope probing (DNA-SIP) was used to obtain molecular evidence for autotrophic denitrifying communities...
January 12, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/28110143/non-denitrifying-polyphosphate-accumulating-organisms-obviate-requirement-for-anaerobic-condition
#9
A Anisa Cokro, Yingyu Law, Rohan B H Williams, Yeshi Cao, Per H Nielsen, Stefan Wuertz
Enhanced biological phosphorus removal (EBPR) is a widely used process in wastewater treatment that requires anaerobic/aerobic or anaerobic/anoxic cycling. Surprisingly, phosphorus (P) release was observed in the presence of nitrate in the anoxic compartment of the activated sludge tank in a full-scale treatment plant with the Modified Ludzack Ettinger configuration. We therefore studied the potential of this full-scale activated sludge community to perform EBPR under anoxic/aerobic cycling. The polyphosphate accumulating organism (PAO) Candidatus Accumulibacter represented 3...
January 3, 2017: Water Research
https://www.readbyqxmd.com/read/28110115/application-of-an-ecosystem-model-to-evaluate-the-importance-of-different-processes-and-food-web-structure-for-transfer-of-13-elements-in-a-shallow-lake
#10
L Konovalenko, C Bradshaw, E Andersson, U Kautsky
In environmental risk assessments of nuclear waste, there is need to estimate the potential risks of a large number of radionuclides over a long time period during which the environment is likely to change. Usually concentration ratios (CRs) are used to calculate the activity concentrations in organisms. However, CRs are not available for all radionuclides and they are not easily scalable to the varying environment. Here, an ecosystem transport model of elements, which estimates concentrations in organisms using carbon flows and food transfer instead of CR is presented...
January 18, 2017: Journal of Environmental Radioactivity
https://www.readbyqxmd.com/read/28110061/droplet-based-characterization-of-surfactant-efficacy-in-colloidal-stabilization-of-carbon-black-in-nonpolar-solvents
#11
Blake J Bleier, Benjamin A Yezer, Ben J Freireich, Shelley L Anna, Lynn M Walker
Development of an electrostatic stabilization mechanism for colloidal suspensions in nonpolar fluids requires an improved understanding of the interactions between the inverse micelles and particles as well as the roles that steric and electrostatic effects play. A droplet-based millifluidic device is designed and used to investigate the stabilization effects of surfactants on colloidal suspensions. A system containing carbon black and the surfactant OLOA 11000 suspended in dodecane is chosen as a well-characterized system to study sedimentation quantitatively...
January 10, 2017: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/28110047/are-cuo-nanoparticles-effects-on-hemocytes-of-the-marine-scallop-chlamys-farreri-caused-by-particles-and-or-corresponding-released-ions
#12
Xuemei Sun, Bijuan Chen, Bin Xia, Qian Han, Lin Zhu, Keming Qu
Manufactured nanoparticles (NPs) have become emerging pollutants and attracted extensive concern about their potential effects on the marine environment. However, the contribution of particles and their corresponding released ions to the overall toxicity of CuO NPs is poorly understood. In this study, we investigated the toxicological effects of CuO NPs and their corresponding released ions on the hemocytes of Chlamys farreri. Both copper species induced membrane damage, and increased lysosome contents in hemocytes...
January 19, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28110018/historical-records-and-sources-of-polycyclic-aromatic-hydrocarbons-pahs-and-organochlorine-pesticides-ocps-in-sediment-from-a-representative-plateau-lake-china
#13
Hezhog Yuan, Enfeng Liu, Enlou Zhang, Wenlei Luo, Liang Chen, Cheng Wang, Qi Lin
The PAH and OCP concentrations in sediment cores collected from a deep lake were measured and evaluated chronologically. The results indicated that the PAH and OCP concentrations significantly increased from the 1950s to the 1990s and subsequently decreased to recent years. Integrated molecular diagnostic ratios indicated that the predominant petrogenic sources occurred from the 1950s-1980s. Petroleum and fuel combustion dominated the source of contamination more recently as a result of energy structure changes in this region...
January 9, 2017: Chemosphere
https://www.readbyqxmd.com/read/28110005/concentrations-sources-and-human-health-risk-of-inhalation-exposure-to-air-toxics-in-edmonton-canada
#14
Md Aynul Bari, Warren B Kindzierski
With concern about levels of air pollutants in recent years in the Capital Region of Alberta, an investigation of ambient concentrations, sources and potential human health risk of hazardous air pollutants (HAPs) or air toxics was undertaken in the City of Edmonton over a 5-year period (2009-2013). Mean concentrations of individual HAPs in ambient air including volatile organic compounds (VOCs), polycyclic aromatic hydrocarbons (PAHs) and trace metals ranged from 0.04 to 1.73 μg/m(3), 0.01-0.54 ng/m(3), and 0...
January 7, 2017: Chemosphere
https://www.readbyqxmd.com/read/28109947/design-and-synthesis-of-benzodiazepine-analogs-as-isoform-selective-human-lysine-deacetylase-inhibitors
#15
D Rajasekhar Reddy, Flavio Ballante, Nancy J Zhou, Garland R Marshall
A comprehensive investigation was performed to identify new benzodiazepine (BZD) derivatives as potent and selective human lysine deacetylase inhibitors (hKDACis). A total of 108 BZD compounds were designed, synthesized and from that 104 compounds were biologically evaluated against human lysine deacetylases (hKDACs) 1, 3 and 8 (class I) and 6 (class IIb). The most active compounds showed mid-nanomolar potencies against hKDACs 1, 3 and 6 and micromolar activity against hKDAC8, while a promising compound (6q) showed selectivity towards hKDAC3 among the different enzyme isoforms...
December 18, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28109901/study-of-ciprofloxacin-adsorption-and-regeneration-of-activated-carbon-prepared-from-enteromorpha-prolifera-impregnated-with-h3po4-and-sodium-benzenesulfonate
#16
Man Wang, Gang Li, Lihui Huang, Jing Xue, Quan Liu, Nan Bao, Ji Huang
Activated carbons were derived from Enteromorpha prolifera immersed in H3PO4 solution or the H3PO4 solution mixed with sodium benzenesulfonate (SBS), producing AC and AC-SBS. NaOH solution was employed in regeneration of ciprofloxacin (CIP)-loaded AC and AC-SBS to obtain RAC and RAC-SBS. The properties of the original and regenerated activated carbons were characterized by thermo-gravimetric analysis (TGA), scanning electron microscopy (SEM), N2 adsorption/desorption isotherms and Fourier transform infrared spectroscopy (FTIR)...
January 18, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28109889/vascular-remodeling-a-redox-modulated-mechanism-of-vessel-caliber-regulation
#17
REVIEW
Leonardo Y Tanaka, Francisco R M Laurindo
Vascular remodeling, i.e. whole-vessel structural reshaping, determines lumen caliber in (patho)physiology. Here we review mechanisms underlying vessel remodeling, with emphasis in redox regulation. First, we discuss confusing terminology and focus on strictu sensu remodeling. Second, we propose a mechanobiological remodeling paradigm based on the concept of tensional homeostasis as a setpoint regulator. We first focus on shear-mediated models as prototypes of remodeling closely dominated by highly redox-sensitive endothelial function...
January 18, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28109777/physiological-tremor-8-12hz-component-in-isometric-force-control
#18
Thomas Novak, Karl M Newell
The experiment investigated the influence of physiological tremor (8-12Hz band) on the variability of isometric force control as a function of force level and hand dominance. Subjects were instructed to match a constant force level target line on a computer screen and minimize error in a uni-manual isometric finger abduction task at 5%, 25%, 45%, 65%, and 85% of their maximal voluntary contraction (MVC). The experimental protocol was performed independently with the left and right hands in separate blocks of performance...
January 18, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28109751/cord-blood-natural-killer-cells-expressing-a-dominant-negative-tgf-%C3%AE-receptor-implications-for-adoptive-immunotherapy-for-glioblastoma
#19
Eric S Yvon, Rachel Burga, Allison Powell, Conrad R Cruz, Rohan Fernandes, Cecilia Barese, Tuongvan Nguyen, Mohamed S Abdel-Baki, Catherine M Bollard
Cord blood (CB) natural killer (NK) cells are promising effector cells for tumor immunotherapy but are currently limited by immune-suppressive cytokines in the tumor microenvironment, such as transforming growth factor (TGF-β). We observed that TGF-β inhibits expression of activating receptors such as NKG2D and DNAM1 and decreases killing activity against glioblastoma tumor cells through inhibition of perforin secretion. To overcome the detrimental effects of TGF-β, we engrafted a dominant negative TGF-β receptor II (DNRII) on CB-derived NK cells by retroviral transduction and evaluated their ability to kill glioblastoma cells in the presence of TGF-β...
January 19, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28109653/an-examination-of-outlaw-motorcycle-gangs-and-their-involvement-in-the-illicit-drug-market-and-the-effectiveness-of-anti-association-legislative-responses
#20
Terry Goldsworthy, Laura McGillivray
BACKGROUND: In 2013 the Queensland Government introduced criminal association and mandatory sentencing laws for members of outlaw motorcycle gangs (OMCGs). Forms of "criminal association" or "anti-bikie" laws have been introduced in several Australian jurisdictions, and recent High Court decisions upholding their constitutionality will ensure that they remain part of our justice landscape. Generally, the aims of these laws are to declare a specific organisation as "criminal" and impose various legal orders and offences that thwart the consorting of members and address organised crime, such as unexplained wealth regimes...
January 18, 2017: International Journal on Drug Policy
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