bluuebunny/crossref_metadata_2025_split huggingface dataset:
The autism spectrum phenotype in ADNP syndrome
Authors: Arnett Anne B. , Rhoads Candace L. , Hoekzema Kendra , Turner Tychele N. , Gerdts Jennifer , Wallace Arianne S. , Bedrosian‐Sermone Sandra , Eichler Evan E. , Bernier Raphael A. 
Published: August 2018

Pathogenic disruptions to the activity‐dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD‐associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4–22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD‐associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300–1310. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.Lay SummaryDisruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment.
The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2‐q13)
Authors: Wegiel Jarek , Brown W. Ted , La Fauci Giuseppe , Adayev Tatyana , Kascsak Richard , Kascsak Regina , Flory Michael , Kaczmarski Wojciech , Kuchna Izabela , Nowicki Krzysztof , Martinez‐Cerdeno Veronica , Wisniewski Thomas , Wegiel Jerzy 
Published: August 2018

Fragile X syndrome (FXS), caused by lack of fragile X mental retardation protein (FMRP), is associated with a high prevalence of autism. The deficit of FMRP reported in idiopathic autism suggests a mechanistic overlap between FXS and autism. The overall goal of this study is to detect neuropathological commonalities of FMRP deficits in the brains of people with idiopathic autism and with syndromic autism caused by dup15q11.2‐q13 (dup15). This study tests the hypothesis based on our preliminary data that both idiopathic and syndromic autism are associated with brain region‐specific deficits of neuronal FMRP and structural changes of the affected neurons. This immunocytochemical study revealed neuronal FMRP deficits and shrinkage of deficient neurons in the cerebral cortex, subcortical structures, and cerebellum in subjects with idiopathic and dup(15)/autism. Neuronal FMRP deficit coexists with surprising infiltration of the brains of autistic children and adults with FMRP‐positive astrocytes known to be typical only for the fetal and short postnatal periods. In the examined autistic subjects, these astrocytes selectively infiltrate the border between white and gray matter in the cerebral and cerebellar cortex, the molecular layer of the cortex, part of the amygdala and thalamus, central cerebellar white matter, and dentate nucleus. Astrocyte pathology results in an additional local loss of FMRP in neurons and their shrinkage. Neuronal deficit of FMRP and shrinkage of affected neurons in structures free of FMRP‐positive astrocytes and regions infiltrated with FMRP‐expressing astrocytes appear to reflect mechanistic, neuropathological, and functional commonalities of FMRP abnormalities in FXS and autism spectrum disorder.Autism Res2018, 11: 1316–1331. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.Lay summaryImmunocytochemistry reveals a deficit of fragile X mental retardation protein (FMRP) in neurons of cortical and subcortical brain structures but increased FMRP expression in astrocytes infiltrating gray and white matter. The detected shrinkage of FMRP‐deficient neurons may provide a mechanistic explanation of reported neuronal structural and functional changes in autism. This study contributes to growing evidence of mechanistic commonalities between fragile X syndrome and autism spectrum disorder.
To achieve self‐assembled collagen mimetic fibrils using designed peptides
Authors: Strawn Rebecca , Chen FangFang , Jeet Haven Parminder , Wong Sam , Park‐Arias Anne , De Leeuw Monique , Xu Yujia 
Published: August 2018

AbstractIt has proven challenging to obtain collagen‐mimetic fibrils by protein design. We recently reported the self‐assembly of a mini‐fibril showing a 35 nm, D‐period like, axially repeating structure using the designed triple helix Col108. Peptide Col108 was made by bacterial expression using a synthetic gene; its triple helix domain consists of three pseudo‐identical units of amino acid sequence arranged in tandem. It was postulated that the 35 nm d‐period of Col108 mini‐fibrils originates from the periodicity of the Col108 primary structure. A mutual staggering of one sequence unit of the associating Col108 triple helices can maximize the inter‐helical interactions and produce the observed 35 nm d‐period. Based on this unit‐staggered model, a triple helix consisting of only two sequence units is expected to have the potential to form the same d‐periodic mini‐fibrils. Indeed, when such a peptide, peptide 2U108, was made it was found to self‐assemble into mini‐fibrils having the same d‐period of 35 nm. In contrast, no d‐periodic mini‐fibrils were observed for peptide 1U108, which does not have long‐range repeating sequences in its primary structure. The findings of the periodic mini‐fibrils of Col108 and 2U108 suggest a way forward to create collagen‐mimetic fibrils for biomedical and industrial applications.
Long noncoding RNA HOXB13‐AS1 regulates HOXB13 gene methylation by interacting with EZH2 in glioma
Authors: Xiong Yu , Kuang Wei , Lu Shigang , Guo Hua , Wu Miaojing , Ye Minhua , Wu Lei 
Published: August 2018

AbstractDysregulation of long noncoding RNAs (lncRNAs) has been implicated in human diseases, in particular, cancers. In this study, we determined the expression of an lncRNA, HOXB13‐AS1, involving in glioma. We showed that HOXB13‐AS1 was significantly upregulated in glioma tissues and cells and was negatively correlated with its surrounding gene HOXB13 levels. Functional experiments in vitro and in vivo revealed that high level of HOXB13‐AS1 increased cell proliferation and tumor growth by promoting cell cycle progression. Conversely, knockdown of HOXB13‐AS1 resulted in decreased cell proliferation and tumor growth. Mechanistically, we showed that HOXB13‐AS1 overexpression increased DNMT3B‐mediated methylation of adjacent gene HOXB13 promoter by binding with the enhancer of zeste homolog 2 (EZH2) using bisulfite sequencing PCR (BSP), epigenetically suppressing HOXB13 expression. Additionally, the interaction between HOXB13‐AS1 and HOXB13 was validated by RNA immunoprecipitation (RIP) and chromatin immunoprecipitation (ChIP) assays using antibody against to EZH2. Taken together, our study indicated that HOXB13‐AS1 could regulate HOXB13 gene expression by methylation HOXB13 promoter and acts as an epigenetic oncogenic in glioma.
Cancer stem cell‐like characteristics and telomerase activity of the nasopharyngeal carcinoma radioresistant cell line CNE‐2R
Authors: Chen Kai‐Hua , Guo Ya , Li Ling , Qu Song , Zhao Wei , Lu Qi‐Teng , Mo Qi‐Yan , Yu Bin‐Bin , Zhou Lei , Lin Guo‐Xiang , Sun Yong‐Chu , Zhu Xiao‐Dong 
Published: August 2018

AbstractThe radioresistance of nasopharyngeal carcinoma (NPC) may be related to cancer stem cells (CSCs), and the characteristics of CSCs may be maintained by telomerase activity. In this study, we explored the CSC‐like characteristics and telomerase activity of the NPC radioresistant cell line CNE‐2R. This work provides a foundation for future studies on stem cell‐targeted therapies by targeting the radioresistance of NPC. The expression of stem cell‐related genes/proteins and the hTERT gene/protein in CNE‐2R and its parent radiosensitive cell line CNE‐2 were detected using qPCR/Western Blot. Label‐retaining cells (LRCs) were detected through immunocytochemistry, and telomerase activity was detected using a PCR‐ELISA kit. CD133 expression was detected with flow cytometry. CNE‐2R‐CD133+ and CNE‐2R‐CD133− cells were separated with magnetic‐activated cell sorting. The proliferation and tumorigenesis capacities of CNE‐2R‐CD133+, CNE‐2R‐CD133−, and CNE‐2R cells were compared with a CCK‐8 assay, sphere formation assay, and an in vivo experiment. Our results showed that the expression of stem cell‐related genes and the hTERT gene in CNE‐2R cells was higher than those in CNE‐2 cells. Similarly, the expression of stem cell‐related proteins and the hTERT protein in CNE‐2R cells was markedly higher than those in CNE‐2 cells. The proportion of LRCs in CNE‐2R and CNE‐2 cells was (3.10 ± 0.63%) vs (0.40 ± 0.35%; P < 0.001), respectively. Telomerase activity in CNE‐2R cells was remarkably higher than that in CNE‐2 cells. Flow cytometry suggested that the CD133 positive rates in CNE‐2R and CNE‐2 cells were (2.49 ± 0.56%) vs (0.76 ± 0.25%; P = 0.008), respectively. Meanwhile, the proliferation capacity, tumorigenesis capacity, and telomerase activity of CNE‐2R‐CD133+ cells were notably higher than those of CNE‐2R‐CD133− and CNE‐2R cells. Collectively, CNE‐2R displayed CSC‐like characteristics; our results also showed that CNE‐2R cells, especially the sorted CSCs, had high telomerase activity levels.
A visual simulation of ocean floating wind power system
Authors: Wang Lin , Kim Hyuncheol , Kim Imgyu , Han Soonhung 
Published: August 2018

AbstractThe development of ocean floating wind power has been burgeoning in recent years because of its low cost and high efficiency. To facilitate effectiveness, 3D visualization using virtual reality and augmented reality technologies has been applied to many operating systems. However, most of the existing 3D motion visualizations are “pseudo” visualization, and there are a few realistic visualization systems that base the motion of ocean floating wind power on simulation and experiment results. Therefore, in this paper, we conducted research related to the design for a realistic motion visualization system based on numerical simulation data using a commercial game engine (Unity 3D). In our system, the six‐degree‐of‐freedom motion (Surge, Sway, Heave, Roll, Pitch, and Yaw) is simulated and visualized based on numerical analysis results of two hydrodynamics simulation softwares, which can illuminate the nuance between simulation results and experiment results and give us a “real‐time” visual experience about motion in each direction. Meanwhile, comprehensive sea environment conditions, such as wind, rain, water, sound, and cloudiness, are also visualized in Unity 3D.
Magnetization Blocking in Fe2IIIDy2III Molecular Magnets: Ab Initio Calculations and EPR Spectroscopy
Authors: Vieru Veacheslav , Ungur Liviu , Cemortan Valeriu , Sukhanov Andrey , Baniodeh Amer , Anson Christopher E. , Powell Annie K. , Voronkova Violeta , Chibotaru Liviu F. 
Published: August 2018

AbstractThe magnetism and magnetization blocking of a series of [Fe2Dy2(OH)2(teaH)2(RC6H4COO)6] complexes was investigated, in which teaH3=triethanolamine and R=meta‐CN (1), para‐CN (2), meta‐CH3 (3), para‐NO2 (4) and para‐CH3 (5), by combining ab initio calculations and EPR measurements. The results of broken‐symmetry DFT calculations show that in all compounds the Fe–Fe exchange interaction is antiferromagnetic and stronger by far than the Fe–Dy and Dy–Dy interactions. As a result, the lowest two exchange doublets probed by EPR spectroscopy mostly originate from the Ising interaction of the dysprosium ions in all compounds. A correct quantitative description of the splitting of these two doublets requires, however, an explicit account of the Fe–Dy and Fe–Fe interactions. Due to the inversion symmetry of the complexes, the doublets under consideration are described by a collinear Ising exchange interaction. This picture is also supported by the EPR spectra, which could be simulated with parameters close to those extracted from the calculations. The magneto‐structural analysis shows an increase of the antiferromagnetic Fe–Fe exchange interaction with increasing Fe‐O‐Fe angle and Fe–Fe distance. For the Dy–Fe interaction, the opposite tendency is observed, that is, a decrease of antiferromagnetic exchange coupling with increasing Dy‐O‐Fe angle and Dy–Fe distance. The transversal g factors extracted from the ab initio calculations have values in the range of 0.01–0.2, testifying to the lack of high axiality of the ground state of the dysprosium ions. This explains the lack/poor single‐molecule magnetic behavior of this series of compounds at the investigated temperatures of a few Kelvin. Due to a very small gap (fractions of a wavenumber) between the ground and first‐excited exchange doublet, relaxation takes place by magnetic moment reversal at individual dysprosium sites in the considered temperature domain.
Photoinduced C—C Bond Cleavage and Oxidation of Cycloketoxime Esters
Authors: Zhao Binlin , Tan Hui , Chen Cheng , Jiao Ning , Shi Zhuangzhi 
Published: August 2018

AbstractA novel structural reorganization of cycloketoxime esters beyond the traditional Beckmann rearrangement process has been established to build cyano‐containing ketones in the presence of photocatalyst. This novel transformation is remarkable with selective C—C bond cleavage and an oxidation process enabled by DMSO used as the solvent, oxidant, and oxygen source avoiding acid, base and toxic cyanide salts as the cyano source. Further applications in late‐stage modification of complex and chiral molecules have also been reported.
Computational Prediction of Carbohydrate‐Binding Proteins and Binding Sites
Authors: Zhao Huiying , Taherzadeh Ghazaleh , Zhou Yaoqi , Yang Yuedong 
Published: August 2018

AbstractProtein‐carbohydrate interaction is essential for biological systems, and carbohydrate‐binding proteins (CBPs) are important targets when designing antiviral and anticancer drugs. Due to the high cost and difficulty associated with experimental approaches, many computational methods have been developed as complementary approaches to predict CBPs or carbohydrate‐binding sites. However, most of these computational methods are not publicly available. Here, we provide a comprehensive review of related studies and demonstrate our two recently developed bioinformatics methods. The method SPOT‐CBP is a template‐based method for detecting CBPs based on structure through structural homology search combined with a knowledge‐based scoring function. This method can yield model complex structure in addition to accurate prediction of CBPs. Furthermore, it has been observed that similarly accurate predictions can be made using structures from homology modeling, which has significantly expanded its applicability. The other method, SPRINT‐CBH, is a de novo approach that predicts binding residues directly from protein sequences by using sequence information and predicted structural properties. This approach does not need structurally similar templates and thus is not limited by the current database of known protein‐carbohydrate complex structures. These two complementary methods are available at https://sparks‐lab.org. © 2018 by John Wiley & Sons, Inc.
Water‐Deactivated Polyelectrolyte Hydrogel Electrolytes for Flexible High‐Voltage Supercapacitors
Authors: Wei Junjie , Zhou Jie , Su Shasha , Jiang Jinhua , Feng Jing , Wang Qigang 
Published: August 2018

AbstractWith the boom of flexible electronic products and wearable devices, flexible energy storage devices, for example, supercapacitors with high performance, are attracting increasing interest. A flexible water‐deactivated polyelectrolyte hydrogel electrolyte with good mechanical properties and high ionic conductivity was prepared by using an anionic polymer, carboxy methyl cellulose, and a cationic monomer, methacrylamidopropyltrimethyl ammonium chloride. It was then applied in a supercapacitor with flexible activated carbon electrodes. This flexible supercapacitor possesses a high operating voltage of 2.1 V owing to the low electrochemical activity for water within the hydrogel as a result of the ‘molecular cages’ effect and hydrophilic interactions between functional groups and surrounding water molecules. Furthermore, this supercapacitor exhibits good flexibility and tailorability. As the first example of water‐deactivated polyelectrolyte hydrogel electrolytes in applications involving flexible high‐voltage supercapacitors, this work provides a platform for the design of energy storage devices with high energy density for flexible and wearable electronic devices.
Design and analysis of a simple predictive power controller for a 1.0‐kV single‐phase NPC PWM rectifier
Authors: Lahooti Eshkevari Alireza , Mosallanejad Ali , Sepasian Mohammad Sadegh 
Published: August 2018

SummaryThis paper proposes a 1‐kV single‐phase neutral point clamped (NPC) PWM rectifier with a simple predictive power controller (PPC). It includes the three‐level NPC converter and a simplified PPC. This system achieved to feature multi‐level converters and the ability to provide high voltage gain, and a control with accurate and straightforward predictive strategy without the need of PLL and PI controller. It also takes advantages of a digital delay compensator unit, a user‐friendly single‐phase three‐level space vector modulation (SVM) with neutral point balancing, and bidirectional active and reactive power flow. The proposed rectifier provides low input current harmonic distortion (THD < 2%), input sinusoidal current waveforms, zero or desired reactive power flow, fast dynamic response (=5 cycles), high stability, high efficiency, and the lower DC voltage ripple (<6%). Simulations have been carried out for a 1 kV/20 kW rectifier under different conditions. In this analysis, various practical conditions have been investigated and discussed in details. Furthermore, the proposed system was compared with the other literature and conventional methods.
Flow cytometric detection of most proteins in the cell surface proteome is unaffected by trypsin treatment
Authors: Donnenberg Vera S. , Corselli Mirko , Normolle Daniel P. , Meyer E. Michael , Donnenberg Albert D. 
Published: August 2018

AbstractFlow cytometry is often performed on adherent cells or solid tissues that have been released from their growth substrate or disaggregated by enzymatic digestion. Although detection of strongly expressed cell surface proteins following such procedures indicates that many survive treatment with proteolytic enzymes, applications such as cell surface proteomics involve assessment of the expression of more than 200 proteins and it is important to know how to interpret negative results. To address this problem, we performed flow cytometry‐based cell surface proteomic analysis on two non‐adherent cell lines, THP1 and K562, after mock and authentic trypsin treatment, according to a widely used protocol to remove adherent cells (0.25% trypsin, 2.21 mM EDTA, 37°C, 5 min). In a single screening experiment, we examined the effect of treatment on mean fluorescence intensity and on the percent of positive cells and determined the false negative rate. Of 164 determinations that were ≥20% positive after mock treatment, 13 (7.9%) were <20% positive after trypsin treatment. Four proteins were chosen for time‐course studies (performed in triplicate), confirming initial sensitivity results but revealing significant variability in the magnitude of the trypsin effect. When trypsin sensitivity of individual proteins was examined as a function of the number of predicted high probability extracellular trypsin cleavage sites, we found that the markers that yielded false negatives all had high numbers of sites (>30), but even so, the majority of proteins with high numbers of trypsin sites could still be detected after mild trypsin treatment. We conclude that the great majority of cell surface proteins can be detected after mild trypsin treatment, but that negative results should not be over‐interpreted, due to the possibility of false negatives.
A comparative analysis of metabarcoding and morphology‐based identification of benthic communities across different regional seas
Authors: Cahill Abigail E. , Pearman John K. , Borja Angel , Carugati Laura , Carvalho Susana , Danovaro Roberto , Dashfield Sarah , David Romain , Féral Jean‐Pierre , Olenin Sergej , Šiaulys Andrius , Somerfield Paul J. , Trayanova Antoaneta , Uyarra Maria C. , Chenuil Anne 
Published: August 2018

AbstractIn a world of declining biodiversity, monitoring is becoming crucial. Molecular methods, such as metabarcoding, have the potential to rapidly expand our knowledge of biodiversity, supporting assessment, management, and conservation. In the marine environment, where hard substrata are more difficult to access than soft bottoms for quantitative ecological studies, Artificial Substrate Units (ASUs) allow for standardized sampling. We deployed ASUs within five regional seas (Baltic Sea, Northeast Atlantic Ocean, Mediterranean Sea, Black Sea, and Red Sea) for 12–26 months to measure the diversity and community composition of macroinvertebrates. We identified invertebrates using a traditional approach based on morphological characters, and by metabarcoding of the mitochondrial cytochrome oxidase I (COI) gene. We compared community composition and diversity metrics obtained using the two methods. Diversity was significantly correlated between data types. Metabarcoding of ASUs allowed for robust comparisons of community composition and diversity, but not all groups were successfully sequenced. All locations were significantly different in taxonomic composition as measured with both kinds of data. We recovered previously known regional biogeographical patterns in both datasets (e.g., low species diversity in the Black and Baltic Seas, affinity between the Bay of Biscay and the Mediterranean). We conclude that the two approaches provide complementary information and that metabarcoding shows great promise for marine monitoring. However, until its pitfalls are addressed, the use of metabarcoding in monitoring of rocky benthic assemblages should be used in addition to classical approaches rather than instead of them.