bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
Authors: Kolvenbach Caroline M. , van der Ven Amelie T. , Kause Franziska , Shril Shirlee , Scala Marcello , Connaughton Dervla M. , Mann Nina , Nakayama Makiko , Dai Rufeng , Kitzler Thomas M. , Schneider Ronen , Schierbaum Luca , Schneider Sophia , Accogli Andrea , Torella Annalaura , Piatelli Gianluca , Nigro Vincenzo , Capra Valeria , Hoppe Bernd , Märzheuser Stefanie , Schmiedeke Eberhard , Rehm Heidi L. , Mane Shrikant , Lifton Richard P. , Dworschak Gabriel C. , Hilger Alina C. , Reutter Heiko , Hildebrandt Friedhelm 
Published: August 2021

AbstractThe acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL‐like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN, and ZIC3 have been associated with the VATER/VACTERL association; however, large‐scale re‐sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL‐like phenotype to identify potentially novel genetic causes. Exome analysis identified biallelic and X‐chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. Our study suggests six biallelic and X‐chromosomal hemizygous VATER/VACTERL disease genes implicating all six genes in the expression of human renal malformations.
Strategien zur Vermeidung von Artefakten in der massenspektrometrischen Epitranskriptomanalytik
Authors: Kaiser Steffen , Byrne Shane R. , Ammann Gregor , Asadi Atoi Paria , Borland Kayla , Brecheisen Roland , DeMott Michael S. , Gehrke Tim , Hagelskamp Felix , Heiss Matthias , Yoluç Yasemin , Liu Lili , Zhang Qinghua , Dedon Peter C. , Cao Bo , Kellner Stefanie 
Published: August 2021

AbstractIn diesem Artikel führen wir eine Strukturvalidierung von RNA‐Phosphorothioat (PT)‐Modifikationen durch, von welchen vor Kurzem im Epitranskriptom von Bakterien und Eukaryoten, einschließlich des Menschen, berichtet wurde. Durch den Vergleich synthetischer PT‐haltiger Diribonukleotide mit nativen Spezies aus RNA‐Hydrolysaten mittels hochauflösender Massenspektrometrie (MS), metabolisch stabiler Isotopenmarkierung und PT‐spezifischer Iodoxidation, widerlegen wir die Existenz von PTs in RNA aus E. coli, S. cerevisiae, menschlichen Zelllinien und Mausgehirn. Darüber hinaus erläutern wir, wie 2′‐O‐methylierte Diribonukleotide durch ein MS‐Artefakt anfänglich als RNA‐Phosphorothioate fehlidentifiziert wurden. Um die Strukturvalidierung neuer Nukleinsäuremodifikationen zu unterstützen, präsentieren wir einen detaillierten Leitfaden für die MS‐Analyse von RNA‐Hydrolysaten und betonen, wie das gewählte RNA‐Verdauprotokoll ein entscheidender Faktor bei der Entdeckung und Quantifizierung von RNA‐Modifikationen in biologischen Proben sein kann.
Strategies to Avoid Artifacts in Mass Spectrometry‐Based Epitranscriptome Analyses
Authors: Kaiser Steffen , Byrne Shane R. , Ammann Gregor , Asadi Atoi Paria , Borland Kayla , Brecheisen Roland , DeMott Michael S. , Gehrke Tim , Hagelskamp Felix , Heiss Matthias , Yoluç Yasemin , Liu Lili , Zhang Qinghua , Dedon Peter C. , Cao Bo , Kellner Stefanie 
Published: August 2021

AbstractIn this report, we perform structure validation of recently reported RNA phosphorothioate (PT) modifications, a new set of epitranscriptome marks found in bacteria and eukaryotes including humans. By comparing synthetic PT‐containing diribonucleotides with native species in RNA hydrolysates by high‐resolution mass spectrometry (MS), metabolic stable isotope labeling, and PT‐specific iodine‐desulfurization, we disprove the existence of PTs in RNA from E. coli, S. cerevisiae, human cell lines, and mouse brain. Furthermore, we discuss how an MS artifact led to the initial misidentification of 2′‐O‐methylated diribonucleotides as RNA phosphorothioates. To aid structure validation of new nucleic acid modifications, we present a detailed guideline for MS analysis of RNA hydrolysates, emphasizing how the chosen RNA hydrolysis protocol can be a decisive factor in discovering and quantifying RNA modifications in biological samples.
Grafting the buffer interphase ''MOF‐5'' for acquiring carbon fiber reinforced composite with excellent mechanical and tribological properties
Authors: Ouyang Haibo , Zhou Man , Fei Jie , Duan Xiao , Liu Tian , Zhao Bei , Huang Jian Feng 
Published: August 2021

AbstractThe metal organic frameworks (MOF‐5) with nanoscale porosity and organic–inorganic heterocyclic structure were chemically grafted onto carbon fibers by solvothermal for forming high mechanical interlocking composite architectures and releasing the interfacial forces, so as to obtain carbon fiber reinforced composite with excellent mechanical and tribological properties. With the multi‐scale enhancement of MOF‐5, the optimized tensile and bending strength of the composite increased by about 177.9% and 81.3%, respectively. Moreover, the friction coefficient was higher and relatively stable under the continuous wet friction condition, as well as the wear rate was reduced by 44.4%. The work suggests that the application of MOFs can be extended to the field of structural composites.
Enhanced thermal conductivity and wear resistance of polytetrafluoroethylene via incorporating hexagonal boron nitride and alumina particles
Authors: Chen Hong , Li Chenxi , Yao Quanwei , Chen Feng , Fu Qiang 
Published: August 2021

AbstractPolytetrafluoroethylene (PTFE) receives wide attention in electronic packaging materials due to its excellent dielectric properties, friction properties and thermal stability. However, its extremely low thermal conductivity limits its further application. In this work, hexagonal boron nitride (h‐BN) platelets are added into PTFE matrix to improve the thermal conductivity as the expense of largely deteriorated friction property. To make up the loss of friction property, alumina particles (AO) are also added and the effects of filler ratio between h‐BN and alumina on the thermal conductivity and tribological performance of PTFE composites are investigated. It is interesting to find that when the filler ratio of h‐BN and alumina is fixed at 2:1, the through‐plane and in‐plane thermal conductivity of PTFE composite filled with 30 vol% hybrid filler can be increased to 1.544 Wm−1 K−1 and 2.029 Wm−1 K−1 (5.5 and 5.7 times that of PTFE), respectively. Furthermore, the coefficient of friction of PTFE composites only increases by 21.32% and the wear rate decreased by 48.09%, compared with that of PTFE. Our work demonstrates a facile method to achieve much improved thermal conductivity of PTFE while maintaining its excellent dielectric properties and friction properties by using hybrid filler of h‐BN and AO.
Diastereoselectivity‐Switchable Gold‐Catalyzed Formal [3+2]‐Cycloadditions of N‐2,2,2‐Trifluoroethylisatin Ketimines with Yne−Enones
Authors: Xiao Jun‐An , Cheng Xiu‐Liang , Peng Hai , Liang Jin‐Shao , Luo Xiao‐Yan , Su Wei 
Published: August 2021

AbstractThe unexpected gold‐catalyzed formal [3+2]‐cycloaddition of N‐2,2,2‐trifluoroethylisatin ketimines with 2‐(1‐Alkynyl)‐2‐alken‐1‐ones is reported. Both diastereomers of the corresponding cycloadducts were formed in moderate to excellent yields with excellent diastereoselectivities by switching the catalytic system from mono‐gold to gold/silver bimetallic catalytic system. The practicality of this protocol is demonstrated by scale‐up reaction and the transformations of the cycloadduct.
Use of allied‐health services and medication among adults with ASD in Latin America
Authors: Torres Andy , Lecusay Denise , Valdez Daniel , Rosoli Analía , Garrido Gabriela , Cukier Sebastián , Paula Cristiane Silvestre , Garcia Ricardo , Rattazzi Alexia , Montiel‐Nava Cecilia 
Published: August 2021

AbstractASD is a neurodevelopmental disorder that affects people across the entire lifespan, yet most of the research identifying the health and medical needs for autistic individuals have been among minors. As individuals with ASD transition to emerging adulthood, the services, already limited, become less available. This study aimed to identify the use of services for Latin American adults on the spectrum. We surveyed 295 caregivers of adults with ASD from six Latin American countries. Comparing the results for all the possible services observed in this study, the adults in our sample were primarily underserved: 84.4%–95.9% were receiving zero hours per week, 3.7%–12.9% 1%–10 h, 0%–1.7% 11–20, and only 0%–1% above 20 h of services. Almost half of the sample used medication, and neurologists were the most consulted health providers. Next to inexistent health care usage in Latin American adults with ASD highlights socioeconomic and health disparities in service provision for ASD in the region. The lack of services places adults with ASD in Latin America at a higher risk of worse symptom severity than autistic adults from regions with broader access to services.Lay SummaryThis study aimed to identify the quantity of services received by adults with autism in Latin America. Most of our sample was not receiving health services yet almost half had access to medication. This could mean that adults with autism in Latin America are at higher risk for poorer health.
CDCA7‐regulated inflammatory mechanism through TLR4/NF‐κB signaling pathway in stomach adenocarcinoma
Authors: Guo Yu , Zhou Kaimei , Zhuang Xiang , Li Junjie , Shen Xianglin 
Published: August 2021

ABSTRACTTo investigate the role of cell division cycle associated 7 (CDCA7) in stomach carcinoma, detect whether CDCA7 knockdown could regulate the development of stomach carcinoma, and further observe the relationship between CDCA7 and inflammation through TLR4/NF‐κB signaling pathway in stomach adenocarcinoma (STAD) in vitro and in vivo. TIMER2.0, Kaplan–Meier plotter, Target Gene, and GEPIA systems were used to predict the potential function of CDCA7. Western blot and immunohistochemistry was used to analyze the expression of CDCA7 at different tissue or cell lines. The proliferation, development, inflammation, and apoptosis of STAD in vitro and in vivo were observed by using CDCA7 knockdown lentivirus through TLR4 suppression by its inhibitor. Bioinformatics analysis of CDCA7 with inflammation and western blot of CDCA7 with target protein of immune‐associated cells were observed by using CDCA7 knockdown lentivirus in vivo. Finally, the prognosis and associated of CDCA7 in some gene mutations of STAD was observed by Target Gene system. CDCA7 expression in STAD tumor tissue was higher than the normal. The CDCA7 expression in tumor or MGC803 cells was increased. Furthermore, CDCA7 knockdown lentivirus could inhibit STAD development in vitro and in vivo through weakening tumor cells proliferation, reducing tumor volume and biomarker levels, and then increasing apoptotic level. CDCA7 is possibly able to regulate inflammation in STAD through TLR4/NF‐κB signaling pathway. Furthermore, CDCA7 may be related with mast cells and the upstream target factor of TLR4/NF‐κB signaling pathway in inflammation. These results may provide a new strategy to stomach carcinoma development by regulating inflammation.
Integrated pan‐cancer of AURKA expression and drug sensitivity analysis reveals increased expression of AURKA is responsible for drug resistance
Authors: Miralaei Noushin , Majd Ahmad , Ghaedi Kamran , Peymani Maryam , Safaei Masoomeh 
Published: August 2021

AbstractIntroductionThe AURKA gene encodes a protein kinase involved in cell cycle regulation and plays an oncogenic role in many cancers. The main objective of this study is to analyze AURKA expression in 13 common cancers and its role in prognostic and drug resistance.MethodUsing the cancer genome atlas (TCGA) as well as CCLE and GDSC data, the level of AURKA gene expression and its role in prognosis and its association with drug resistance were evaluated, respectively. In addition, the expression level of AURKA was assessed in colorectal cancer (CRC) and gastric cancer (GC) samples. Besides, using Gene Expression Omnibus (GEO) data, drugs that could affect the expression level of this gene were also identified.ResultsThe results indicated that the expression level of AURKA gene in 13 common cancers increased significantly compared to normal samples or it survived poorly (HR >1, p < 0.01) in lung, prostate, kidney, bladder, and uterine cancers. Also, the gene expression data showed increased expression in CRC and GC samples compared to normal ones. The level of AURKA was significantly associated with the resistance to SB 505124, NU‐7441, and irinotecan drugs (p < 0.01). Eventually, GEO data showed that JQ1, actinomycin D1, and camptothecin could reduce the expression of AURKA gene in different cancer cell lines (logFC < 1, p < 0.01).ConclusionIncreased expression of AURKA is observed in prevalent cancers and associated with poor prognostic and the development of drug resistance. In addition, some chemotherapy drugs can reduce the expression of this gene.
The Effect of Pretreatment on the Reactivity of Pd/Al2O3 in Room Temperature Formaldehyde Oxidation
Authors: Zhang Lina , Zhang Bangjie , Xue Peng , Li Jiwei , Zhang Zhun , Yang Yanling , Wang Shuai , Lin Jingdong , Liao Honggang , Wang Yong , Yao Yali , Wan Shaolong , Xiong Haifeng 
Published: August 2021

AbstractA Pd/Al2O3 nanocatalyst was pretreated at 750 °C in air, Ar or H2O/Ar, respectively. The effect of these different pretreatments on the active species and reactivity of Pd/Al2O3 in formaldehyde oxidation at room temperature was investigated. The pretreatment was found to affect both the phase transformation of PdO to Pd metal and the Pd dispersion, leading to different catalytic performances. We found that the Pd/Al2O3 nanocatalyst pretreated in both Ar and H2O/Ar show 60 % and 100 % formaldehyde conversion at 25 °C, respectively, while the catalyst pretreated in air is not active under the same condition. Pretreatments in both Ar and H2O/Ar were found to facilitate the formation of metallic Pd on Pd/Al2O3 catalyst, confirmed by both experiments and calculation based on the function of the equilibrium oxygen pressure and temperature. We further found that the catalyst pretreated in H2O/Ar has higher Pd dispersion and more surface OH groups compared to that pretreated in Ar, leading to improved activity in formaldehyde oxidation.
Improved Durability and Activity in Pt/Mo2C Fuel Cell Cathodes by Magnetron Sputtering of Tantalum
Authors: Hamo Eliran R. , Rosen Brian A. 
Published: August 2021

AbstractCost reduction together with durability represent the primary challenges for cathode catalysts in polymer electrolyte membrane fuel cells (PEMFCs). The catalyst is often supported by carbon, which suffers from parasitic corrosion, particularly during start‐up and shut‐down operations. Transition metal carbides (TMCs) have attracted attention as a potential replacement for carbon supports because some of them have electronic structures likened to noble metals. Mo2C has shown promising activity as platinum support for the oxygen reduction reaction (ORR) but can suffer from oxidation and dissolution. Here, Mo2C supports are modified by surface tantalum (Ta) treatment using a variety of DC magnetron sputtering operating parameters. All supports modified by Ta showed improved corrosion resistance compared to the untreated support. Pt/Mo2C modified with Ta using a 500 V bias, 6 mTorr working pressure, and 2 min sputter time additionally showed improved kinetic current density and mass activity. Ta sputtering under these conditions were applied to the cathode side of a Pt/Mo2C membrane electrode assembly and showed significantly improved durability when subjected to an accelerated stress test. Ta‐modified Pt/Mo2C cathodes showed resistance to void formation and loss of electrochemical surface area. Ta magnetron sputtering can therefore be considered a viable surface treatment for improving the activity and stability of PEMFCs using Mo2C‐based supports.
Turning the Light on Phenols: New Opportunities in Organic Synthesis
Authors: Bartolomei Beatrice , Gentile Giuseppe , Rosso Cristian , Filippini Giacomo , Prato Maurizio 
Published: August 2021

AbstractPhenols (I) are extremely relevant chemical functionalities in natural, synthetic and industrial chemistry. Their corresponding electron‐rich anions, namely phenolates (I), are characterized by interesting physicochemical properties that can be drastically altered upon light excitation. Specifically, phenolates (I) become strong reducing agents in the excited state and are able to generate reactive radicals from suitable precursors via single‐electron transfer processes. Thus, these species can photochemically trigger strategic bond‐forming reactions, including their direct aromatic C−H functionalization. Moreover, substituted phenolate anions can act as photocatalysts to enable synthetically useful organic transformations. An alternative mechanistic manifold is represented by the ability of phenolate derivatives I to form ground state electron donor‐acceptor (EDA) complexes with electron‐poor radical sources. These complementary scenarios have paved the way for the development of a wide range of relevant organic reactions. In this Minireview, we present the main examples of this research field, and give insight on emerging trends in phenols photocatalysis towards richer organic synthesis.
A schizophrenia risk factor induces marked anatomical deficits at GABAergic‐dopaminergic synapses in the rat ventral tegmental area: Essential evidence for new targeted therapies
Authors: Seo Steve , Sizemore Rachel J. , Reader Karen L. , Smither Roseanna A. , Wicky Hollie E. , Hughes Stephanie M. , Bilkey David K. , Parr‐Brownlie Louise C. , Oorschot Dorothy E. 
Published: August 2021

AbstractTo develop new therapies for schizophrenia, evidence accumulated over decades highlights the essential need to investigate the GABAergic synapses that presynaptically influence midbrain dopaminergic neurons. Since current technology restricts these studies to animals, and evidence accumulated in recent decades indicates a developmental origin of schizophrenia, we investigated synaptic changes in male rat offspring exposed to maternal immune activation (MIA), a schizophrenia risk factor. Using a novel combination of lentiviruses, peroxidase‐immunogold double labeling, three‐dimensional serial section transmission electron microscopy and stereology, we observed clear anatomical alterations in synaptic inputs on dopaminergic neurons in the midbrain posterior ventral tegmental area (pVTA). These changes relate directly to a characteristic feature of schizophrenia: increased dopamine release. In 3‐month‐old and 14‐month‐old MIA rats, we found a marked decrease in the volume of presynaptic GABAergic terminals from the rostromedial tegmental nucleus (RMTg) and in the length of the synapses they made, when innervating pVTA dopaminergic neurons. In MIA rats in the long‐term, we also discovered a decrease in the volume of the postsynaptic density (PSD) and in the maximum thickness of the PSD at the same synapses. These marked deficits were evident in conventional GABA‐dopamine synapses and in synaptic triads that we discovered involving asymmetric synapses that innervated RMTg GABAergic presynaptic terminals, which in turn innervated pVTA dopaminergic neurons. In triads, the PSD thickness of asymmetric synapses was significantly decreased in MIA rats in the long‐term cohort. The extensive anatomical deficits provide a potential basis for new therapies targeted at synaptic inputs on midbrain pVTA dopaminergic neurons, in contrast to current striatum‐targeted antipsychotic drugs.
Multiple species‐specific molecular markers using nanofluidic array as a tool to detect prey DNA from carnivore scats
Authors: Di Bernardi Cecilia , Wikenros Camilla , Hedmark Eva , Boitani Luigi , Ciucci Paolo , Sand Håkan , Åkesson Mikael 
Published: August 2021

AbstractLarge carnivore feeding ecology plays a crucial role for management and conservation for predators and their prey. One of the keys to this kind of research is to identify the species composition in the predator diet, for example, prey determination from scat content. DNA‐based methods applied to detect prey in predators’ scats are viable alternatives to traditional macroscopic approaches, showing an increased reliability and higher prey detection rate. Here, we developed a molecular method for prey species identification in wolf (Canis lupus) scats using multiple species‐specific marker loci on the cytochrome b gene for 18 target species. The final panel consisted of 80 assays, with a minimum of four markers per target species, and that amplified specifically when using a high‐throughput Nanofluidic array technology (Fluidigm Inc.). As a practical example, we applied the method to identify target prey species DNA in 80 wolf scats collected in Sweden. Depending on the number of amplifying markers required to obtain a positive species call in a scat, the success in determining at least one prey species from the scats ranged from 44% to 92%. Although we highlight the need to evaluate the optimal number of markers for sensitive target species detection, the developed method is a fast and cost‐efficient tool for prey identification in wolf scats and it also has the potential to be further developed and applied to other areas and large carnivores as well.
Cyanopyridines – Suitable Heterocycles for Cocrystal Syntheses
Authors: Enkelmann Dennis , Lipinski Gregor , Merz Klaus 
Published: August 2021

Abstract2‐cyanopyridine and 4‐cyanopyridine were investigated for the controlled synthesis of cocrystals by applying the pKa rule. Cocrystals were designed with oxalic, glutaric and adipic acids and analyzed by single crystal X‐ray diffraction. To get a deeper insight into the aggregation behavior of the designed cocrystals, UNI Force Field Calculations were used to compare the intermolecular potentials of the main interactions of the crystal structures.
“The liberation of LGBTQ+ will also liberate heterosexuals”: Heterosexual feminist women's participation in solidarity‐based collective action for LGBTQ+ rights
Authors: Uysal Mete Sefa , Uluğ Özden Melis , Kanık Betül , Aydemir Aslı 
Published: August 2021

AbstractThe current studies aim to examine the underlying predictors of heterosexual feminist women's willingness to participate in solidarity‐based collective action for LGBTQ+ rights. We hypothesized that feminist identification, perceived discrimination against LGBTQ+, and strategic intra‐minority alliance between feminists and LGBTQ+ would predict their willingness to participate in solidarity‐based collective action. Study 1 (N = 141) showed that higher feminist identification and more endorsement of the strategic intra‐minority alliance predicted more willingness to participate in solidarity‐based collective action among heterosexual feminist women in Turkey. Study 2 (N = 644) replicated and extended the findings of Study 1 with a larger sample by showing that higher awareness of sexual orientation privilege predicts more willingness to participate in solidarity‐based collective action. By following an intersectional and multi‐identity approach in Study 3 (N = 280), we showed that higher feminist identification predicted more willingness to participate in solidarity‐based collective action, whereas higher heterosexual identification predicted less willingness.