bluuebunny/crossref_metadata_2025_split huggingface dataset:
Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities
Authors: Koromina Maria , Flitton Miles , Blockley Alix , Mellor Ian R. , Knight Helen M. 
Published: December 2019

AbstractSchizophrenia (Scz), autism spectrum disorder (ASD) and intellectual disability are common complex neurodevelopmental disorders. Kainate receptors (KARs) are ionotropic glutamate ion channels involved in synaptic plasticity which are modulated by auxiliary NETO proteins. Using UK10K exome sequencing data, we interrogated the coding regions of KAR and NETO genes in individuals with Scz, ASD or intellectual disability and population controls; performed follow-up genetic replication studies; and, conducted in silico and in vitro functional studies. We found an excess of Loss-of-Function and missense variants in individuals with Scz compared with control individuals (p = 1.8 × 10−10), and identified a significant burden of functional variants for Scz (p < 1.6 × 10−11) and ASD (p = 6.9 × 10−18). Single allele associations for 6 damaging missense variants were significantly replicated (p < 5.0 × 10−15) and confirmed GRIK3 S310A as a protective genetic factor. Functional studies demonstrated that three missense variants located within GluK2 and GluK4, GluK2 (K525E) and GluK4 (Y555N, L825W), affect agonist sensitivity and current decay rates. These findings establish that genetic variation in KAR receptor ion channels confers risk for schizophrenia, autism and intellectual disability and provide new genetic and pharmacogenetic biomarkers for neurodevelopmental disease.
Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein
Authors: Lee Juhwan , Chang Iksoo , Yu Wookyung 
Published: December 2019

AbstractDestabilization of prion protein induces a conformational change from normal prion protein (PrPC) to abnormal prion protein (PrPSC). Hydrophobic interaction is the main driving force for protein folding, and critically affects the stability and solvability. To examine the importance of the hydrophobic core in the PrP, we chose six amino acids (V176, V180, T183, V210, I215, and Y218) that make up the hydrophobic core at the middle of the H2-H3 bundle. A few pathological mutants of these amino acids have been reported, such as V176G, V180I, T183A, V210I, I215V, and Y218N. We focused on how these pathologic mutations affect the hydrophobic core and thermostability of PrP. For this, we ran a temperature-based replica-exchange molecular dynamics (T-REMD) simulation, with a cumulative simulation time of 28 μs, for extensive ensemble sampling. From the T-REMD ensemble, we calculated the protein folding free energy difference between wild-type and mutant PrP using the thermodynamic integration (TI) method. Our results showed that pathological mutants V176G, T183A, I215V, and Y218N decrease the PrP stability. At the atomic level, we examined the change in pair-wise hydrophobic interactions from valine-valine to valine-isoleucine (and vice versa), which is induced by mutation V180I, V210I (I215V) at the 180th–210th (176th–215th) pair. Finally, we investigated the importance of the π-stacking between Y218 and F175.
Targeting AXL and RAGE to prevent geminin overexpression-induced triple-negative breast cancer metastasis
Authors: Ryan Daniel , Koziol Jim , ElShamy Wael M. 
Published: December 2019

AbstractDissemination of metastatic precursors from primaries is the primary reason for patient death. Dissemination encompasses tumor cells invasion of stroma, followed by intravasation through the endothelium barrier into the bloodstream. Here, we describe how geminin-overexpressing tumor cells acquire dissemination ability. Acetylated HMGB1 (Ac-HMGB1) secreted by geminin-overexpressing cells activates RAGE and CXCR4 expression on mesenchymal stem cells (MSCs) located in tumor stroma. Through secreting CXCL12, geminin-overexpressing cells recruit these CXCR4+-MSCs into the tumor. Within the tumor, MSCs differentiate into S100A4-secreting cancer-associated fibroblasts (CAFs). S100A4, in a reciprocal manner, activates geminin-overexpressing cells to secrete CCL2 that recruits M0-macrophages from the stroma into the tumor. Within the tumor, CCL2 polarizes M0-macrophages into Gas6-secreting M2-tumor-associated macrophages (M2-TAMs). In concert, geminin-overexpression, S100A4/RAGE and Gas6/AXL signaling promote the invasive and intravasation abilities in geminin-overexpressing cells through exacerbating their stemness and epithelial-to-mesenchymal phenotypes and enhancing expression and functional interaction of CD151 and α3β1-integrin in geminin-overexpressing cells. Tumors formed following injection of geminin-overexpressing cells admixed with MSCs/CAFs grew faster, metastasized earlier, especially to lungs, and were extremely sensitive to anti-c-Abl, anti-RAGE, and anti-AXL drugs. These data support an intrinsic ability in geminin-overexpressing tumor cells to promote their metastatic potential through recruitment and bi-directional interactions with MSCs/CAFs and M2-TAMs.
Amorphous Ge-Bi-Se Thin Films: A Mass Spectrometric Study
Authors: Mawale Ravi , Mandal Govinda , Bouška Marek , Gutwirth Jan , Bora Pankaj Lochan , Nazabal Virginie , Havel Josef , Němec Petr 
Published: December 2019

AbstractThe Ge-Bi-Se thin films of varied compositions (Ge content 0–32.1 at. %, Bi content 0–45.7 at. %, Se content 54.3–67.9 at. %) have been prepared by rf magnetron (co)-sputtering technique. The present study was undertaken in order to investigate the clusters generated during the interaction of laser pulses with Ge-Bi-Se thin films using laser ablation time-of-flight mass spectrometry. The stoichiometry of the clusters was determined in order to understand the individual species present in the plasma plume. Laser ablation of Ge-Bi-Se thin films accompanied by ionization produces about 20 positively and/or negatively charged unary, binary and ternary (Gex+, Biy+, Sez+/−, GexSez+/−, BiySez+/− and GexBiySez−) clusters. Furthermore, we performed the laser ablation experiments of Ge:Bi:Se elemental mixtures and the results were compared with laser ablation time-of-flight mass spectrometry analysis of thin films. Moreover, to understand the geometry of the generated clusters, we calculated structures of some selected binary and ternary clusters using density functional theory. The generated clusters and their calculated possible geometries can give important structural information, as well as help to understand the processes present in the plasma processes exploited for thin films deposition.
B procyanidins of Annona crassiflora fruit peel inhibited glycation, lipid peroxidation and protein-bound carbonyls, with protective effects on glycated catalase
Authors: Justino Allisson B. , Franco Rodrigo R. , Silva Heitor C. G. , Saraiva André L. , Sousa Raquel M. F. , Espindola Foued S. 
Published: December 2019

AbstractAdvanced glycation end-products (AGEs) have been reported as results of increased oxidative stress. Consequently, the search for new antioxidant and anti-glycating agents is under intense investigation. Plant-derived procyanidins have previously demonstrated anti-glycation properties. Thus, this study aimed to isolate procyanidins from Annona crassiflora fruit peel, a species from the Brazilian Savanna, and investigate their antioxidant and anti-glycation effects. Free radical scavenging and quenching properties, formation of reactive oxygen species (ROS), AGEs, protein carbonyl and thiol groups, lipid peroxidation, crosslinked AGEs, as well as glycated catalase activity, were analyzed. In addition, in silico assessment of absorption, distribution, metabolism, excretion and toxicity was carried out. The procyanidins-enriched fraction, named here as F7, showed high antioxidant and anti-glycation capacities, with inhibitory activities against lipid peroxidation, and AGEs and ROS formation. In addition, there were reductions in AGEs-induced crosslinks and protein carbonyls and protective effects against oxidation of thiol groups and glycated-catalase. ADMET predictions of F7 showed favorable absorption and distribution, with no hepatotoxicity or mutagenicity. Together, our results support the anti-glycation activities of the procyanidins-enriched fraction from A. crassiflora, and suggest that these effects are triggered, at least in part, by scavenging free radical and dicarbonyls intermediates.
Comparative Genomics of 86 Whole-Genome Sequences in the Six Species of the Elizabethkingia Genus Reveals Intraspecific and Interspecific Divergence
Authors: Liang Chih-Yu , Yang Chih-Hui , Lai Chung-Hsu , Huang Yi-Han , Lin Jiun-Nong 
Published: December 2019

AbstractBacteria of the genus Elizabethkingia are emerging infectious agents that can cause infection in humans. The number of published whole-genome sequences of Elizabethkingia is rapidly increasing. In this study, we used comparative genomics to investigate the genomes of the six species in the Elizabethkingia genus, namely E. meningoseptica, E. anophelis, E. miricola, E. bruuniana, E. ursingii, and E. occulta. In silico DNA–DNA hybridization, whole-genome sequence-based phylogeny, pan genome analysis, and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were performed, and clusters of orthologous groups were evaluated. Of the 86 whole-genome sequences available in GenBank, 21 were complete genome sequences and 65 were shotgun sequences. In silico DNA–DNA hybridization clearly delineated the six Elizabethkingia species. Phylogenetic analysis confirmed that E. bruuniana, E. ursingii, and E. occulta were closer to E. miricola than to E. meningoseptica and E. anophelis. A total of 2,609 clusters of orthologous groups were identified among the six type strains of the Elizabethkingia genus. Metabolism-related clusters of orthologous groups accounted for the majority of gene families in KEGG analysis. New genes were identified that substantially increased the total repertoire of the pan genome after the addition of 86 Elizabethkingia genomes, which suggests that Elizabethkingia has shown adaptive evolution to environmental change. This study presents a comparative genomic analysis of Elizabethkingia, and the results of this study provide knowledge that facilitates a better understanding of this microorganism.
Collision cross sections obtained with ion mobility mass spectrometry as new descriptor to predict blood-brain barrier permeation by drugs
Authors: Guntner Armin Sebastian , Thalhamer Bernhard , Klampfl Christian , Buchberger Wolfgang 
Published: December 2019

AbstractEvaluating the ability of a drug to permeate the blood-brain barrier is not a trivial task due to the structural complexity of the central nervous system. Nevertheless, it is of immense importance to identify related properties of the drugs either to be able to produce a desired effect in the brain or to avoid unwanted side effects there. In the past, multiple methods have been used for that purpose. However, these are sometimes methodologically problematic and do not claim universal validity. Therefore, additional new methods for judging blood-brain barrier penetration by drugs are advantageous. Accordingly, within the scope of this study, we tried to introduce a new structure-derived parameter to predict the blood-brain barrier permeation of small molecules based on ion mobility mass spectrometry experiments – the collision cross section, as an illustration of the branching and the molecular volume of a molecule. In detail, we used ion mobility quadrupole time-of-flight mass spectrometric data of 46 pharmacologically active small-molecules as well as literature-derived permeability and lipophilicity data to set up our model. For the first time we were able to show a strong correlation between the brain penetration of pharmacologically active ingredients and their mass spectrometric collision cross sections.
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications
Authors: Faggion Vinholo Thais , Brownstein Adam J. , Ziganshin Bulat A. , Zafar Mohammad A. , Kuivaniemi Helena , Body Simon C. , Bale Allen E. , Elefteriades John A. 
Published: December 2019

AbstractThoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention. Molecular genetics will continue to bolster this burgeoning catalog of culprit genes, enabling the provision of personalized aortic care.
Exceptional photocatalytic activity for Ag,Cr- SrTiO3 activated by H2O2 for removal of organic pollutants
Authors: Zhao Zhihuan , Zhang Xiao , Lei Yunyu , Yang Pengfei , Fan Jimin , Zhang Bing , Yin Shu 
Published: December 2019

Abstract
Ag,Cr-SrTiO3 nanocomposite was successfully prepared through the one-pot situ solvothermal method by using butyl titanate, CrCl3·6H2O and Sr(NO3)2 as raw materials. The obtained nanocomposites were characterized by x-ray diffraction, scanning electron microscopy and x-ray photoelectron spectroscopy. UV-visible diffuse reflectance spectroscopy was used to investigate the optical properties and the results demonstrated the extension of spectral response from ultraviolet to visible light region. Compared with pure SrTiO3, Ag,Cr-SrTiO3 exhibited remarkable enhancement in adsorption and photocatalytic ability. More importantly, samples activated by H2O2 revealed extraordinary photocatalytic activity, which could remove 98.8% of MO within 60 min with 0.4 wt% Ag,Cr-SrTiO3. This work not only indicates that Ag,Cr-SrTiO3 is a desired photocatalytic material to degrade of organic pollutants under enlarging response range of solar light, but also shows that the addition of H2O2 can promote the photodegradation reaction.
Catalytic degradation of Acid Orange 7 in water by persulfate activated with CuFe2O4@RSDBC
Authors: Guan Kun , Zhou Peijiang , Zhang Junye , Zhu Longlong 
Published: December 2019

Abstract
In this study, a novel series of rectorite/sludge derived biochar (RSDBC) supporting CuFe2O4 (CuFe2O4@RSDBC) composites were prepared as an effective catalyst to active persulfate (PS) for the removal of Acid Orange 7 (AO7) in water. The character of catalyst was analyzed by scanning electron microscope (SEM), transmission electron microscopy (TEM), fourier transform infrared spectroscopy (FTIR) and x-ray diffraction (XRD). Various influencing factors including initial pH, PS concentration, catalyst dosage, initial dye concentration and reaction temperature were investigated. The optimal reaction conditions were found to be: PS concentration 2 mM; catalyst dosage 0.6 g l−1; initial pH value 7.0 and 25 °C of reaction temperature. Further radical quenching tests were performed by using ethanol, tert-butanol (TBA) and benzoquinone (BQ), which confirmed that sulfate radicals (

SO

4

·
−

) and hydroxyl radicals (HO•−) were the reactive species in the degradation process. The Gas chromatography-mass spectrometry (GC-MS) analysis was employed to determine the intermediate products and a plausible degradation pathway is proposed. In addition, the CuFe2O4@RSDBC sample exhibited high color removal ability (95%) and stable performance after three successive runs. At last, the catalyst proved a good removal effect for actual dye wastewater. These results indicate that CuFe2O4@RSDBC hybrids could be as effective catalysts for PS activation on dye pollutants elimination.
Effects of Sr addition on microstructures and mechanical properties of Mg-1Zn-1Ca-xSr alloys
Authors: Geng-Yi Dong , Gui-Ying Sha , Teng Liu , Chong Zhang 
Published: December 2019

Abstract
The Sr-containing magnesium alloys have unique characteristics and demonstrate potentials to broaden the application of magnesium alloys. The microstructures and room temperature tensile properties of the as-cast Mg-1Zn-1Ca-xSr (x = 0.1, 0.5, 1.5, 2.5 weight%) alloys were investigated in this study. The results indicated that the grains of the Sr-containing alloys were gradually refined and the quantity of second phases was obviously increased with increasing the Sr content. In addition, the phase constituents of the alloys were found to be α-Mg, Mg2Ca, Mg6Ca2Zn3 and Mg17Sr2. The tensile results at room temperature showed that the tensile strength and elongation increased for low Sr-content alloys, but didn’t change or even decreased a little for high Sr-content alloys. The yield strength changed little with increasing Sr content. The alloy with 0.1% Sr exhibited the best comprehensive properties, with yield strength of 65.69 MPa, tensile strength of 118.23 MPa and elongation of 2.45%. Fracture analysis showed that the fracture mode of the alloys was mainly quasi-cleavage mechanism.
Surface remelting treatment of 7075 aluminum alloy—microstructural and technological aspects
Authors: Iwaszko Józef , Kudła Krzysztof 
Published: December 2019

Abstract
7075 aluminum alloy in the T6 state was subjected to surface remelting treatment using Gas Tungsten Arc Welding (GTAW). The changes in the material microstructure were examined by means of light microscopy, scanning electron microscopy and EDS. Moreover, profilometric tests and comparative measurements of material hardness in the state before and after the treatment were conducted. In the remelted layer strong microstructure refinement and the disappearance of microstructure banding were found. A fine dendritic microstructure was dominant in the remelted zone. Use of the GTAW method reduced the number of intermetallic precipitates in the surface layer. A consequence of dissolving the precipitates was a decrease in the hardness of the material in relation to the hardness before the modification. All the samples were characterized by the presence of a remelted zone, a narrow partially remelted zone and a wide heat affected zone. With an increase in the heat source travel speed, and consequently less heat entering the remelted material, the dimensions of the individual zones decreased. The conducted research showed that GTAW technology can be used in the surface remelting treatment of aluminum alloys and can be a competitive solution in comparison to other technologies.
Effect of calcium phosphate synthesis conditions on its physico-chemical properties and evaluation of its antibacterial activity
Authors: Souad Guerfi , Baghdadi Chouial 
Published: December 2019

Abstract
The antibacterial activity of non-stoichiometric calcium phosphate particles prepared by precipitation under controlled experimental conditions at pH ∼ 9 and sintered at high temperature was studied against Staphylococcus aureus bacteria. The effects of operating parameters developed according to an experimental design of Plackett-Burman type on the physicochemical characteristics and the capacity to inhibit bacterial growth were identified using a thermal analysis (TGA-DTA-DSC), x-ray Diffraction (XR), Raman Spectroscopy, Scanning Electron Microscope (SEM) and the Kirby Bauer Method. The XRD spectrum shows that the synthetic crystalline nanoparticles powders consist of multiphasic calcium phosphate β-TCP/β-CPP/OCP/HA and that the average particle size is between 56 and 123 nm calculated by the Debay-Shearer equation. The Raman spectrum of sintered powder shows the main absorption bands that are assigned to the asymmetric / symmetric P-O stretching vibrations in PO4
−3 and the symmetric O-H stretching mode of the hydroxyl group in addition of Ca-PO4 and Ca-OH modes. The samples were found to possess different morphologies consisting of nano-rods of different lengths, semi / spherical structures and fine granules, in addition to irregular clusters. The antibacterial tests results showed that the high concentration calcium phosphate powder exhibited better antibacterial activity against Staphylococcus aureus bacteria with inhibition zones ranging from 0.2–0.7 cm.
Facile preparation of flexible and highly stable graphene oxide-silver nanowire hybrid transparent conductive electrode
Authors: Zhang Yan , Bai Shengchi , Chen Tianrui , Yang Hui , Guo Xingzhong 
Published: December 2019

Abstract
The flexible and highly stable graphene oxide (GO)/silver nanowires (AgNWs) hybrid transparent conductive electrode (TCE) was fabricated by coating AgNWs and GO inks on the surface of polyethylene terephthalate (PET) using a Meyer rod. The as-prepared GO/AgNWs hybrid TCE with a GO concentration of 0.75 mg·ml−1 exhibits excellent optoelectronic performances with a sheet resistance of 25 Ω·sq−1, a transmittance of 87.6% at 550 nm, and a lower surface roughness with a root mean square (RMS) roughness value of 4.86 nm. The existence of protective GO layer endows excellent thermal oxidation resistance and outperforming mechanical stabilities for GO/AgNWs hybrid TCE even at the conditions of temperature 80 °C, relative humidity (RH) 75% for 16 days, at room temperature in ambient air for 3 months, and mechanical bending of 2200 times, respectively. The GO/AgNWs hybrid TCE is a promising candidate for ITO used in optical devices such as organic light-emitting diodes (OLEDs), solar cells and flat panel displays.
Gases of driving methane out of a carbon nanotube
Authors: Meng Xianwen , Shen Ling 
Published: December 2019

Abstract
Methane is a kind of clean energy resource. Driving methane molecules out of a nanochannel efficiently is helpful to increase mining efficiency. Injecting other gas molecules is an ideal method to increase methane production. By molecular dynamics simulation, we take the adsorption behaviors of methane (CH4) and nitrogen (N2) mixture in a carbon nanotube for example. Compared with nitrogen (N2), methane (CH4) obtains an advantage on adsorption in a carbon nanotube when methane concentration changes from 0.1 to 0.9. By changing the parameters of ε and σ, we find two parameters can regulate the adsorption behaviors of methane in a carbon nanotube. The probability of driving CH4 molecules out of a carbon nanotube increases with increasing the parameter of ε at the same σ, while the probability of driving CH4 out of a carbon nanotube increases at first and then decreases with increasing σ at the same ε. We expect the results could guide the process of methane production efficiently in a physical view.
Infinitesimal Chow dilogarithm
Authors: Ünver Si̇nan 
Published: December 2019

LetC2C_{2}be a smooth and projective curve over the ring of dual numbers of a fieldk.k.Given non-zero rational functionsf,g,f,g,andhhonC2,C_{2},we define an invariantρ(f∧g∧h)∈k.\rho (f\wedge g \wedge h) \in k.This is an analog of the real analytic Chow dilogarithm and the extension to non-linear cycles of the additive dilogarithm of [Algebra Number Theory 3 (2009), pp. 1–34]. Using this construction we state and prove an infinitesimal version of the strong reciprocity conjecture of Goncharov [J. Amer. Math. Soc. 18 (2005), pp. 1–60] with an explicit formula for the homotopy map. Also usingρ,\rho ,we define an infinitesimal regulator on algebraic cycles of weight two which generalizes Park’s construction in the case of cycles with modulus [Amer. J. Math. 131 (2009), pp. 257–276].