bluuebunny/crossref_metadata_2025_split huggingface dataset:
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Authors: Windheuser Isabelle C. , Becker Jessica , Cremer Kirsten , Hundertmark Hela , Yates Laura M. , Mangold Elisabeth , Peters Sophia , Degenhardt Franziska , Ludwig Kerstin U. , Zink Alexander M. , Lessel Davor , Bierhals Tatjana , Herget Theresia , Johannsen Jessika , Denecke Jonas , Wohlleber Eva , Strom Tim M. , Wieczorek Dagmar , Bertoli Marta , Colombo Roberto , Hempel Maja , Engels Hartmut 
Published: February 2020

AbstractBoth point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability, obesity, and behavioral problems. Thus, MYT1L is assumed to be the—at least mainly—causative gene in the 2p25.3 deletion syndrome. Here, we present comprehensive descriptions of nine novel individuals bearing MYT1L mutations; most of them single nucleotide variants (SNVs). This increases the number of known individuals with causative deletions or SNVs of MYT1L to 51. Since eight of the nine novel patients bear mutations affecting MYT1L only, the total number of such individuals now nearly equals the number of individuals with larger microdeletions affecting additional genes, allowing for a comprehensive phenotypic comparison of these two patient groups. For example, 55% of the individuals with mutations affecting MYT1L only were overweight or obese as compared to 86% of the individuals with larger microdeletions. A similar trend was observed regarding short stature with 5 versus 35%, respectively. However, these differences were nominally significant only after correction for multiple testing, further supporting the hypothesis that MYT1L haploinsufficiency is central to the 2p25.3 deletion phenotype. Most importantly, the large number of individuals with MYT1L mutations presented and reviewed here allowed for the delineation of a more comprehensive clinical picture. Seizures, postnatal short stature, macrocephaly, and microcephaly could be shown to be over‐represented among individuals with MYT1L mutations.
Impact of anthropogenic factors on affiliative behaviors among bonnet macaques
Authors: Balasubramaniam Krishna N. , Marty Pascal R. , Arlet Małgorzata E. , Beisner Brianne A. , Kaburu Stefano S. K. , Bliss‐Moreau Eliza , Kodandaramaiah Ullasa , McCowan Brenda 
Published: February 2020

AbstractObjectivesIn primates, allogrooming and other affiliative behaviors confer many benefits and may be influenced by many socioecological factors. Of these, the impact of anthropogenic factors remain relatively understudied. Here we ask whether interactions with humans decreased macaques' affiliative behaviors by imposing time‐constraints, or increased these behaviors on account of more free‐/available‐time due to macaques' consumption of high‐energy human foods.Materials and methodsIn Southern India, we collected data on human–macaque and macaque–macaque interactions using focal‐animal sampling on two groups of semi‐urban bonnet macaques for 11 months. For each macaque within each climatic season, we calculated frequencies of human–macaque interactions, rates of monitoring human activity and foraging on anthropogenic food, dominance ranks, grooming duration, number of unique grooming partners, and frequencies of other affiliative interactions.ResultsWe found strong evidence for time‐constraints on grooming. Macaques that monitored humans more groomed for shorter durations and groomed fewer partners, independent of their group membership, sex, dominance rank, and season. However, monitoring humans had no impact on other affiliative interactions. We found no evidence for the free‐time hypothesis: foraging on anthropogenic food was unrelated to grooming and other affiliation.DiscussionOur results are consistent with recent findings on other urban‐dwelling species/populations. Macaques in such environments may be especially reliant on other forms of affiliation that are of short duration (e.g., coalitionary support, lip‐smacking) and unaffected by time‐constraints. We stress on the importance of evaluating human impact on inter‐individual differences in primate/wildlife behavior for conservation efforts.
Historical human remains identification through maternal and paternal genetic signatures in a founder population with extensive genealogical record
Authors: Harding Tommy , Milot Emmanuel , Moreau Claudia , Lefebvre Jean‐Francois , Bournival Jean‐Sébastien , Vézina Hélène , Laprise Catherine , Lalueza‐Fox Carles , Anglada Roger , Loewen Brad , Casals Ferran , Ribot Isabelle , Labuda Damian 
Published: February 2020

AbstractObjectivesWe describe a method to identify human remains excavated from unmarked graves in historical Québec cemeteries by combining parental‐lineage genetic markers with the whole‐population genealogy of Québec contained in the BALSAC database.Materials and methodsThe remains of six men were exhumed from four historical cemeteries in the province of Québec, Canada. DNA was extracted from the remains and genotyped to reveal their mitochondrial and Y‐chromosome haplotypes, which were compared to a collection of haplotypes of genealogically‐anchored modern volunteers. Maternal and paternal genealogies were searched in the BALSAC genealogical record for parental couples matching the mitochondrial and the Y‐chromosome haplotypic signatures, to identify candidate sons from whom the remains could have originated.ResultsAnalysis of the matching genealogies identified the parents of one man inhumed in the cemetery of the investigated parish during its operating time. The candidate individual died in 1833 at the age of 58, a plausible age at death in light of osteological analysis of the remains.DiscussionThis study demonstrates the promising potential of coupling genetic information from living individuals to genealogical data in BALSAC to identify historical human remains. If genetic coverage is increased, the genealogical information in BALSAC could enable the identification of 87% of the men (n = 178,435) married in Québec before 1850, with high discriminatory power in most cases since >75% of the parental couples have unique biparental signatures in most regions. Genotyping and identifying Québec's historical human remains are a key to reconstructing the genomes of the founders of Québec and reinhuming archeological remains with a marked grave.
Ni(COD)(DQ): An Air‐Stable 18‐Electron Nickel(0)–Olefin Precatalyst
Authors: Tran Van T. , Li Zi‐Qi , Apolinar Omar , Derosa Joseph , Joannou Matthew V. , Wisniewski Steven R. , Eastgate Martin D. , Engle Keary M. 
Published: February 2020

AbstractWe report that Ni(COD)(DQ) (COD=1,5‐cyclooctadiene, DQ=duroquinone), an air‐stable 18‐electron complex originally described by Schrauzer in 1962, is a competent precatalyst for a variety of nickel‐catalyzed synthetic methods from the literature. Due to its apparent stability, use of Ni(COD)(DQ) as a precatalyst allows reactions to be conveniently performed without use of an inert‐atmosphere glovebox, as demonstrated across several case studies.
Corrosion of Heritage Objects: Collagen‐Like Triple Helix Found in the Calcium Acetate Hemihydrate Crystal Structure
Authors: Bette Sebastian , Stelzner Jörg , Eggert Gerhard , Schleid Thomas , Matveeva Galina , Kolb Ute , Dinnebier Robert E. 
Published: February 2020

AbstractHelical motifs are common in nature, for example, the DNA double or the collagen triple helix. In the latter proteins, the helical motif originates from glycine, the smallest amino acid, whose molecular confirmation is closely related to acetic acid. The combination of acetic acid with calcium and water, which are also omnipresent in nature, materializing as calcium acetate hemihydrate, was now revealed to exhibit a collagen‐like triple helix structure. This calcium salt is observed as efflorescence phase on calcareous heritage objects, like historic Mollusca shells, pottery or marble reliefs. In a model experiment pure calcium acetate hemihydrate was crystallized on the surface of a terracotta vessel. Calcium acetate hemihydrate crystallizes in a surprisingly large unit cell with a volume of 11,794.5(3) Å3 at ambient conditions. Acetate ions bridge neighboring calcium cations forming spiral chains, which are arranged in a triple helix motif.
A Bio‐Inspired Magnetically Recoverable Palladium Nanocatalyst for the Ullmann Coupling reaction of Aryl halides and Arylboronic acids In Aqueous Media
Authors: Dubey Abhishek V. , Kumar A. Vijay 
Published: February 2020

AbstractPalladium nanoparticles supported on polydopamine‐coated iron oxide nanoparticles (Pd/Fe3O4@PDA) were found to catalyze the Ullmann homocoupling of a wide variety of aryl halides, arylboronic acids and aryldiazonium salts in aqueous media in the presence of randomly methylated β‐cyclodextrin (RM‐β‐CD). The synthesized nanoparticles were characterized by techniques such as TEM, SEM, EDX, XPS, ICP‐AES and XRD. The synthesized catalyst can be easily recovered magnetically and reused up to five cycles without any significant loss of activity. This is the first report demonstrating the use of magnetically recoverable catalyst for Ullmann homocoupling reactions of aryl halides, arylboronic acids and aryldiazonium salts in water.
Preparation and properties of high viscosity and elasticity asphalt by styrene–butadiene–styrene/polyurethane prepolymer composite modification
Authors: Tian Zhongnan , Zhang Zhengqi , Zhang Kaiwen , Huang Shuolei , Luo Yaofei 
Published: February 2020

AbstractThe porous asphalt pavements is often used in important occasion for its special properties and performance which can be to a great extent attributed to the binder—high viscosity and elasticity asphalt (HVEA). To prepare high demanding binder for porous asphalt pavements, the polyurethane prepolymer (PUP) and styrene–butadiene–styrene (SBS) were used to modify the matrix asphalt compositely. First, based on a series of physical tests, the effects of binder composition on performance of SBS/PUP HVEA binder (SBS/PUP‐HVEA) were investigated. Then the Fourier transform infrared (FTIR) test was conducted to investigate the reaction mechanism of SBS/PUP‐HVEA binder. Last, the fluorescence microscopy, stability tests, multiple stress creep recovery test, and differential scanning calorimetry test were carried out to evaluate and compare the phase structure, storage, high‐temperature performance, thermostability characteristics of several HVEA binders. It is found that the composite modification of SBS and PUP can produce high quality binder which possesses high viscosity and high elasticity. And the composition of SBS/PUP‐HVEA were recommended as follows: Shell‐70# can be chosen as matrix asphalt, the contents of SBS modifier (SBS1301:SBS4303 = 1:2), H2122A PUP, chain extender M‐OEA, and crosslinker sulfur were suggested 4%, 5%, 0.5%, and 1‰, respectively. The new functional groups observed in FTIR confirmed the existence of physical and chemical reactions in the modification process, which were beneficial to improve the high temperature performance and storage stability of the binder. SBS/PUP‐HVEA had good phase structure, storage stability, high temperature performance, and thermostability compared to other HVEA binders. This study demonstrated that the SBS/PUP compositely modified asphalt possessed high viscosity and high elasticity, which can be used in the porous asphalt mixture and other highly demanding working environment as well.
Biodegradation of 3D‐printed polylactic acid milliprojections under physiological conditions
Authors: Tang Tiffany Obog , Simon George Philip 
Published: February 2020

AbstractThe degradation of 3D‐printed polylactic acid (PLA) milliprojections of different molecular weights and crystallinity was studied under physiological conditions for a few months. The motivation of the work was to investigate the use of such printed materials as a potential release device in a transdermal patch. Upon being subjecting to a degradation environment, the remnant milliprojections were investigated in terms of weight loss and change in molecular weight. The critical molecular weights of the polymers were found to be between 8,000 g/mol and 13,000 g/mol. Among the polymers examined, the amorphous PLA had the fastest rate of degradation, losing almost half of its weight at the end of the study. Differential scanning calorimetry analysis further showed that the onset of degradation was favored in the amorphous regions of the polymers while scanning electron microscopy (SEM) findings suggest enhanced hydrolysis due to greater exposure caused by the increased porosity and crack formation upon reaching the critical molecular weight. Gel permeation chromatography (GPC) showed the emergence of multimodal molecular weight distribution during degradation indicating the fragmentation in the polymer bulk. The results of SEM and GPC analysis suggest that bulk erosion was the main mechanism of degradation of the 3D‐printed models.
Plasma‐modified CNFs, GPs, and their mixtures for enhanced polypropylene thermal conductivity
Authors: Covarrubias‐Gordillo Carlos Andrés , Soriano‐Corral Florentino , Ávila‐Orta Carlos Alberto , Fonseca‐Florido Heidi Andrea , González‐Morones Pablo , Cruz‐Delgado Víctor Javier , Cabello‐Alvarado Christian Javier 
Published: February 2020

AbstractLow thermal conductivity of polypropylene (PP) is a key factor in limiting its use for the manufacture of solar heaters. To overcome this problem, in the present work, two different methods were tested to increase the thermal conductivity of a PP matrix by increasing the dispersion and compatibility between PP and carbon nanoparticles (CNPs). In the first method, CNPs modified superficially by plasma of propylene were used, and in the second, mixtures of CNPs (carbon nanofibers and graphene platelets in 9:1, 8:2, and 7:3 ratios) were used. Dispersion and compatibility between PP and CNPs were tested by scanning electron microscopy (SEM), transmission electron microscopy (TEM) and Raman spectroscopy. The results show that both methodologies increase the dispersion and compatibility and, therefore, the thermal conductivity of the PP matrix (0.14 W m−1 K−1), which reached up 0.90 W m−1 K−1. It was also observed that dispersion is a key factor in high concentrations (5 wt/wt%) of CNPs to obtain high thermal conductivity and compatibility in low concentrations (1 wt/wt%). Finally, only a synergistic effect was observed at 1 wt/wt% when using surface‐modified CNPs by plasma and at 5 wt/wt% when the CNPs were used without surface treatment.
Band‐Edge Luminescence from Oxide and Halide Perovskite Semiconductors
Authors: Kanemitsu Yoshihiko , Yamada Yasuhiro 
Published: February 2020

AbstractBecause perovskite crystals exhibit unique magnetic, conductive, and optical properties, they have been the subject of many fundamental investigations in various research fields. However, investigations related to their use as optoelectronic device materials are still in their early days. Regarding oxide perovskites, which have been investigated for a long time, the efficiency of photoluminescence (PL) induced by band‐to‐band transitions is extremely low because of the localized nature of the carriers in these materials. On the other hand, halide perovskites exhibit a highly efficient band‐edge PL attributable to the recombination of delocalized photocarriers. Therefore, it is expected that this class of high‐quality materials will be advantageous for optoelectronic devices such as solar cells and light‐emitting diodes. In this Minireview, we discuss various aspects of the PL properties and carrier dynamics of SrTiO3 and CH3NH3PbX3 (X=I, Br), which are representative oxide and halide perovskites.
Diastereoselective Synthesis of Benzoxanthenones
Authors: Neuhaus William C. , Kozlowski Marisa C 
Published: February 2020

AbstractAn oxidative catalytic vanadium(V) system was developed to access the naturally nonabundant diastereomers of carpanone from the corresponding alkenyl phenol monomer in one pot by tandem oxidation, oxidative coupling, and 4+2 cyclization. This system was applied to the synthesis of two other analogues of carpanone. Mild oxidizing silver salts were used as the terminal oxidant to minimize background oxidation which produces the natural diastereomer of carpanone. Further, the first examples of enantioselective oxidative benzoxanthenone formation are reported. Solvent polarity has a strong effect on enantioselectivity, consistent with a mechanism involving binding of vanadium Schiff base catalysts to the alcoholic moiety of the alkenyl phenols during the cyclization step.
Impact of CRISPR interference on strain development in biotechnology
Authors: Schultenkämper Kerstin , Brito Luciana F. , Wendisch Volker F. 
Published: February 2020

AbstractGenetic perturbation systems are of great interest to redirect metabolic fluxes for value‐added production, as well as genetic screening for the development of new drugs, or to identify new targets for biotechnological applications. Here, we review CRISPR interference (CRISPRi), a method for gene expression using a catalytically inactive version of the CRISPR‐associated protein 9 (dCas9) of the widely applied CRISPR‐Cas9 genome editing system. In combination with the appropriate sgRNA, dCas9 binds to specific DNA sequences without causing double‐stranded DNA breakage but interfering with transcription initiation or elongation. Besides manifold uses to interrogate the physiology of a bacterial cell, CRISPRi is used in applications for metabolic engineering and strain development in industrial biotechnology. Albeit in its infancy, CRISPRi has already delivered the first success stories; however, we also analyze limitations of the CRISPRi system and give future perspectives.
Recent advances in fluorescence sensors based on DNA–MOF hybrids
Authors: Wu Fen , Ye Jianhan , Cao Yulu , Wang Ziyuan , Miao Tingting , Shi Qian 
Published: February 2020

AbstractIn this review, the recent advances in the development of fluorescence sensors based on DNA and metal–organic framework hybrids have been reported for nucleic acid, metal ion and amino acid detection. The main detection mechanism depends on different adsorption capacities of MOFs towards different DNA structures (single‐stranded DNA, double‐stranded DNA), and consequently the fluorescence intensity of probe DNA is changed. These results might open up a way to study their potential application in material science and clinical diagnosis of some related diseases.
Two miRNA prognostic signatures of head and neck squamous cell carcinoma: A bioinformatic analysis based on the TCGA dataset
Authors: Wu Chaoying , Tong Lingxia , Wu Chaoqun , Chen Dong , Chen Jianguo , Li Qianyun , Jia Fang , Huang Zirui 
Published: February 2020

AbstractMicroRNAs(miRNAs) are maladjusted in multifarious malignant tumor and can be considered as both carcinogens and tumor‐inhibiting factor. In the present study, we analyzed the miRNAs expression profiles and clinical information of 481 patients with head and neck squamous cell carcinoma (HNSCC) through the TCGA dataset to identify the prognostic miRNAs signature. A total of 114 significantly differentially expressed miRNAs (SDEMs) were identified, consisting of 60 up‐adjusted and 54 down‐adjusted miRNAs. The Kaplan‐Meier survival method identified the prognostic function of 2 miRNAs (miR‐4652‐5p and miR‐99a‐3P). Univariate and multivariate Cox regression analyses indicated that the 2 miRNAs were significant prognostic elements of HNSCC. Furthermore, bioinformatic analysis was conducted by means of 4 online gene predicted toolkits to recognize the target genes, and enrichment analysis was performed on the target genes by DAVID. The outcomes depicted that target genes were correlated with calcium, as well as cell proliferation, circadian entrainment, EGFR, PI3K‐Akt‐mTOR, and P53 signaling pathways. Finally, the PPI network was conducted in view of STRING database and Cytoscape. Eight hub genes were identified by CytoHubba and MCODE app, respectively, CBL, SKP1, H2AFX, HGF, POLR2F, UBE2I, VAMP2, and GNAI2 genes. As a result, we identified 2 miRNAs signatures, 8 hub genes, and significant signaling pathways for estimating the prognosis of HNSCC. In order to further explore the molecular mechanism of HNSCC occurrence and development, more comprehensive basic and clinical studies are needed.
Do they want contact with us? The role of intergroup contact meta‐perceptions on positive contact and attitudes
Authors: Stathi Sofia , Di Bernardo Gian Antonio , Vezzali Loris , Pendleton Samantha , Tropp Linda R. 
Published: February 2020

AbstractThis research examined the role of contact meta‐perceptions on positive intergroup contact and outgroup attitudes. Specifically, perceptions of the ingroup's and outgroup's desire for intergroup contact were simultaneously tested as predictors of intergroup contact and outgroup attitudes. Three correlational studies were conducted in three distinct contexts, international students' view of British students, general public views of people with schizophrenia, and both Muslims' and non‐Muslims' views of one another. Among these three intergroup relationships, the role of outgroup contact meta‐perceptions was consistently highlighted as predictor of intergroup contact. In stark contrast, ingroup contact meta‐perceptions did not emerge as a significant predictor of contact. Intergroup contact then predicted outgroup attitudes (Studies 1, 2, and 3) and stereotyping (Studies 2 and 3) via reduced anxiety (Studies 2 and 3). The results demonstrate the importance of explicitly highlighting outgroups' openness for intergroup interactions and are discussed in the context of intergroup relations literature.
Lipidomics Analysis of Timosaponin BII in INS‐1 Cells Induced by Glycolipid Toxicity and Its Relationship with Inflammation
Authors: Shi Kexin , Zhu Jiancheng , Chen Deqi , Ren Cui , Guo Mingxin , Wang Juanxia , Wu Xia , Feng Yifan 
Published: February 2020

AbstractAnemarrhena asphodeloides Bunge is a traditional Chinese medicine. The timosaponin BII is one of the most abundant and widely studied active ingredients in Anemarrhena asphodeloides Bunge. Related studies have shown that timosaponin BII has potential value for development and further utilization. The protective effect of timosaponin BII on islet β cells under type 2 diabetes was investigated in the glycolipid toxic INS‐1 cell model and possible biomarkers were explored by lipidomics analysis. Timosaponin BII was isolated from Anemarrhena asphodeloides Bunge by polyamide resin and Sephadex LH‐20. Then, the glycolipid toxicity INS‐1 cell model was established to investigate the protective effect of timosaponin BII. The results showed that timosaponin BII could significantly influence the levels of malondialdehyde (MDA) and glutathione (GSH), thereby restoring the insulin secretion ability and cell viability of model cells. Lipidomics analysis was combined with multivariate statistical analysis for marker selection. The four most common pathological and pharmacological lipid markers were phosphatidylserine (PS), suggesting that timosaponin BII had protective effects on model cells related to the reduction oxidative stress and macrophage inflammation. RAW264.7 macrophages were stimulated by LPS to establish a model of inflammation and study the effect of timosaponin BII on the nodes of NOD‐like receptor P3 (NLRP3) inflammasome pathway in the model cells. In conclusion, timosaponin BII may have the effect of protecting INS‐1 pancreatic β cells through reducing IL‐1β (interleukin‐1β) production by inhibiting the NLRP3 inflammasome in macrophage and restoring the insulin secretion ability and cell viability by reducing oxidative stress.