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Marc P Forrest, Matthew J Hill, David H Kavanagh, Katherine E Tansey, Adrian J Waite, Derek J Blake
Background: Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophrenia. Conversely, rare damaging TCF4 mutations cause Pitt-Hopkins syndrome and have also been found in individuals with intellectual disability (ID) and autism spectrum disorder (ASD). Methods: Chromatin immunoprecipitation and next generation sequencing were used to identify the genomic targets of TCF4. These data were integrated with expression, epigenetic and disease gene sets using a range of computational tools...
December 8, 2017: Schizophrenia Bulletin
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two affected siblings, but no clinical evidence of PCD. We identified a homozygous DNAAF1 missense mutation, p...
December 7, 2017: Human Molecular Genetics
Pacifica Sommers, John L Darcy, Eli M S Gendron, Lee F Stanish, Elizabeth A Bagshaw, Dorota L Porazinska, Steven K Schmidt
Ice-lidded cryoconite holes on glaciers in the Taylor Valley, Antarctica, provide a unique system of natural mesocosms for studying community structure and assembly. We used high-throughput DNA sequencing to characterize both microbial eukaryotic communities and bacterial communities within cryoconite holes across three glaciers to study similarities in their spatial patterns. We expected that the alpha (phylogenetic diversity) and beta (pairwise community dissimilarity) diversity patterns of eukaryotes in cryoconite holes would be related to those of bacteria, and that they would be related to the biogeochemical gradient within the Taylor Valley...
December 6, 2017: FEMS Microbiology Ecology
Santa Mundi, Marika Massaro, Egeria Scoditti, Maria Annunziata Carluccio, Victor W M van Hinsbergh, M Luisa Iruela-Arispe, Raffaele De Caterina
Early atherosclerosis features functional and structural changes in the endothelial barrier function that affect the traffic of molecules and solutes between the vessel lumen and the vascular wall. Such changes are mechanistically related to the development of atherosclerosis.Proatherogenic stimuli and cardiovascular risk factors, such as dyslipidemias, diabetes, obesity, and smoking, all increase endothelial permeability sharing a common signalling denominator: an imbalance in the production/disposal of reactive oxygen species (ROS), broadly termed oxidative stress...
December 8, 2017: Cardiovascular Research
Asuka Onuma, Yoshie A Fujioka, Wataru Fujii, Koji Sugiura, Kunihiko Naito
Exportin 1 (XPO1) is a nuclear transport receptor involved in the nuclear export of majority proteins in somatic cells. In mammalian oocytes, however, only the presence of XPO1 has been reported at mRNA and protein levels, and the definitive functions of XPO1 and its effects on the meiotic maturation of oocytes have never been directly examined. In the present study, the expression state and the nuclear-export function of porcine XPO1 were analyzed in porcine oocytes. In addition, we investigated the effects of the overexpression and inhibition of XPO1 on meiotic regulation in full-grown and growing oocytes by mRNA injection and inhibitor treatment...
December 8, 2017: Biology of Reproduction
Nicholaus Meyers, Julian Schülke, Anita Ignatius, Lutz Claes
BACKGROUND: Distraction osteogenesis is a procedure widely used for the correction of large bone defects. However, a high complication rate persists, likely due to insufficient stability during maturation. Numerical fracture healing models predict bone regeneration under different mechanical conditions allowing fixation stiffness optimization. However, most models apply a linear elastic material law inappropriate for the transient stresses/strains present during limb lengthening or segment transport...
2017: PloS One
Joshua J Neumiller, Connie M Rhee, Kamyar Kalantar-Zadeh
No abstract text is available yet for this article.
December 11, 2017: American Journal of Nephrology
Ke Cao, Tiyu Ding, Dongmin Mao, Gengrui Zhu, Weichao Fang, Changwen Chen, Xinwei Wang, Lirong Wang
Peach is an important deciduous fruit tree species. Anthocyanins play an important role in fruit color formation and, through linkage analysis, previous studies have identified and mapped the key genes regulating anthocyanins' accumulation to chromosomes 3 and 5 in two different germplasms. To understand the overall regulatory network of anthocyanins biosynthesis, genes co-expressed with these key genes were identified in the red-fleshed 'Tianjin Shui Mi' and white-fleshed 'Hakuho' germplasms. Analysis of their flesh anthocyanin contents revealed differences 15 days before maturation...
December 7, 2017: Plant Physiology and Biochemistry: PPB
Klaudia Kosek, Katarzyna Kozak, Krystyna Kozioł, Katarzyna Jankowska, Stanisław Chmiel, Żaneta Polkowska
Persistent organic pollutants (POPs) have been a topic of interest in environmental sciences for >60years. POPs in the Arctic have been investigated since the 1970s, when first atmospheric measurements revealed the presence of these pollutants in the polar regions. Major contaminant transport routes to the Arctic include atmospheric and oceanic transport, as well as inflow from rivers and sea ice. The sources of pollutants, such as industry, power generators, vehicle and ship exhausts, introduce the PAHs, phenols, formaldehyde or metals into the Arctic...
December 8, 2017: Science of the Total Environment
Magdalena Rowińska-Żyrek
Efficient nickel transport is crucial for the survival and virulence of various bacteria and fungi, with Ni2+ being required for the activity of nine enzymes such as [NiFe] hydrogenase, which catalyzes the reversible oxidation of molecular hydrogen for energy production. This work focuses on a region of transmembrane domain I from the HupE nickel transporter, highly conserved in the HupE/UreJ and NiCoT permease families, analyzing its interactions with native Ni2+ and two other metal ions (Cu2+ and Zn2+), which might interfere with nickel binding...
December 1, 2017: Journal of Inorganic Biochemistry
Sandy Wong
This paper draws from Hägerstrand's space-time framework to generate new insights on the everyday mobilities of individuals with visual impairments in the San Francisco Bay Area. While existing research on visual impairment and mobility emphasizes individual physical limitations resulting from vision loss or inaccessible public spaces, this article highlights and bridges both the behavioral and social processes that influence individual mobility. A qualitative analysis of sit-down and mobile interview data reveals that the space-time constraints of people with visual impairments are closely linked to their access to transportation, assistive technologies, and mobile devices...
December 8, 2017: Health & Place
Xiaolin Wu, Yan Wang, Zhongyi Peng, Qun Chen
This paper surveys the reactions of Chinese drivers when encountering anger-provoking situations, including traffic congestion, pedestrians crossing the street illegally, being flashed by the high beams of cars traveling in the opposite direction, aberrant overtaking by other cars and when the car ahead drives slowly. A questionnaire survey found that 69.4% of participants wait when encountering traffic congestion and that 71% of drivers tolerate pedestrians crossing the street illegally; moreover, 61.3% of drivers are "angry but tolerant" when encountering aberrant overtaking...
December 8, 2017: Accident; Analysis and Prevention
Henriette S Frislev, Stine C L Jakobsen, Signe A Frank, Daniel E Otzen
Liprotides are complexes composed of partially denatured proteins and fatty acids in which the fatty acids form a micelle-like core surrounded by a shell of proteins. Liprotides, composed of α-lactalbumin (aLA) and oleic acid (OA), are similar in components and cytotoxicity to the original HAMLET protein-fatty acid complex. Liprotides composed of aLA and OA kill tumor cells by transferring the OA component to, and thus destabilizing, the cell membrane. Here we investigate liprotides' dynamics of transfer of contents between themselves and membranes using the hydrophobic fluorescent probe pyrene...
December 5, 2017: Biophysical Chemistry
Nick Barts, Ryan Greenway, Courtney N Passow, Lenin Arias-Rodriguez, Joanna L Kelley, Michael Tobler
Hydrogen sulfide (H2S) is a natural toxicant in some aquatic environments that has diverse molecular targets. It binds to oxygen transport proteins, rendering them non-functional by reducing oxygen-binding affinity. Hence, organisms permanently inhabiting H2S-rich environments are predicted to exhibit adaptive modifications to compensate for the reduced capacity to transport oxygen. We investigated ten lineages of fish of the family Poeciliidae that have colonized freshwater springs rich in H2S - along with related lineages from non-sulfidic environments - to test hypotheses about the expression and evolution of oxygen transport genes in a phylogenetic context...
December 11, 2017: Genome Génome / Conseil National de Recherches Canada
Nadzeya A Kukhta, Tomas Matulaitis, Dmytro Volyniuk, Khrystyna Ivaniuk, Pavlo Turyk, Pavlo Stakhira, Juozas Vidas Grazulevicius, Andrew P Monkman
Elaboration of the appropriate host materials proved to be not less important for the fabrication of a highly efficient OLED, than the design of emitters. In present work we show how by simple variation of molecular structure both blue emitters exhibiting delayed fluorescence and ambipolar high triplet energy hosts can be obtained. The compounds with para-junction revealed higher thermal stability (TID up to 480 oC), lower ionization potentials (5.51-5.60 eV), exclusively hole transport and higher photoluminescence quantum efficiencies (0...
December 11, 2017: Journal of Physical Chemistry Letters
Rinaldo Raccichini, James W Dibden, Ashley Brew, John R Owen, Nuria Garcia-Araez
The Lithium-Sulfur battery is considered to be one of the main candidates for the "post-lithium-ion" battery generation, because of its high theoretical specific capacity and inherently low cost. The role of the electrolyte is particularly important in this system and remarkable battery performances have been reported by tuning the amount of salt in the electrolyte. To further understand the reasons for such improvements we chose the lithium bis(trifluoromethanesulfonyl)imide in 1,3-dioxolane electrolyte as a model salt-solvent system for a systematic study of conductivity and viscosity over a wide range of concentration from 10-5 up to 5 molal...
December 11, 2017: Journal of Physical Chemistry. B
Mu-Fa Zou, Jianjing Cao, Ara M Abramyan, Theresa Kopajtic, Claudio Zanettini, Daryl A Guthrie, Rana Rais, Barbara S Slusher, Lei Shi, Claus J Loland, Amy Hauck Newman
The development of medications to treat cocaine use disorders has thus far defied success, leaving this patient population without pharmacotherapeutic options. As the dopamine transporter (DAT) plays a prominent role in the reinforcing effects of cocaine that can lead to addiction, atypical DAT inhibitors have been developed that prevent cocaine from binding to DAT, but they themselves are not cocaine-like. Herein, a series of novel DAT inhibitors were synthesized, and based on its pharmacological profile, the lead compound 10a was evaluated in phase I metabolic stability studies in mouse liver microsomes and compared to cocaine in locomotor activity and drug discrimination paradigms in mice...
December 11, 2017: Journal of Medicinal Chemistry
Mengxiao Liu, Christian Hilty
Hyperpolarization by dissolution dynamic nuclear polarization (D-DNP) has emerged as a technique for enhancing NMR signals by several orders of magnitude, thereby facilitating the characterization of metabolic pathways both in vivo and in vitro. Following the introduction of an externally hyperpolarized compound, real-time NMR enables the measurement of metabolic flux in the corresponding pathway. Spin relaxation however limits the maximum experimental time and prevents the use of this method with compounds exhibiting slow membrane transport rates...
December 11, 2017: Analytical Chemistry
Michael H Huang, Gollapally Naresh, Hsiang-Sheng Chen
Recent studies on the electrical conductivity and photocatalytic activity properties of semiconductor nanocrystals such as Cu2O, Ag2O, TiO2, PbS, and Ag3PO4 exposing well-defined surfaces have revealed strong facet effects. For example, the electrical conductivity of Cu2O crystals can vary from highly conductive to non-conductive, and they can be highly photocatalytically active or inactive depending on the exposed faces. The crystal surfaces can even tune their light absorption wavelengths. Our understanding is that the emergence of these unusual phenomena can be explained in terms of the presence of an ultrathin surface layer having different band structures and degrees of band bending for different surfaces, which affects charge transport and photons into and out of the crystals...
December 11, 2017: ACS Applied Materials & Interfaces
Thiago M A Santos, Matthew G Lammers, Maoquan Zhou, Ian L Sparks, Madhusudan Rajendran, Dong Fang, Crystal L Y De Jesus, Gabriel F R Carneiro, Qiang Cui, Douglas B Weibel
Bacterial cell division requires identification of the division site, assembly of the division machinery, and constriction of the cell envelope. These processes are regulated in response to several cellular and environmental signals. Here, we use small molecule iron chelators to characterize the surprising connections between bacterial iron homeostasis and cell division. We demonstrate that iron starvation downregulates the transcription of genes encoding proteins involved in cell division, reduces protein biosynthesis, and prevents correct positioning of the division machinery at the division site...
December 11, 2017: ACS Chemical Biology
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