bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
Authors: Bruce Laurel , Peter Beate 
Published: July 2022

AbstractBCL11A is implicated in BCL11A‐Related Intellectual Development Disorder (BCL11A‐IDD). Previously reported cases had various types of BCL11A variants (copy‐number variations [CNVs], singlenucleotide variants [SNVs]). Phenotypes included global, cognitive, and motor delays, autism spectrum disorder (ASD), craniofacial dysmorphology, and speech and language delays described generally, with only two reports specifying childhood apraxia of speech (CAS). Here, we present three additional children with CAS and de novo BCL11A variants, a p.Ala182Thr nonconservative missense and a p.GLu611.Ter nonsense variant, both in exon 4, and a 106 kb deletion harboring exons 1 and 2. All three children have fine and gross motor discoordination, feeding difficulties, and visual motor disorders. Intellectual and learning disabilities and disordered language skills were seen only in the child with the missense variant and the child with the deletion. These findings align with, and expand, previous findings in that BCL11A variants have significant and highly penetrant apraxic effects across motor systems, consistent with cerebellar involvement. The deletion of exons 1 and 2 is the smallest BCL11A CNV with the full phenotypic expression reported to date. The present results support previous findings in that BCL11A‐IDD can result from BCL11A variants regardless of type (deletion, SNVs). A gene expression study shows that BCL11 is expressed highly in the early developing cerebellum and primary motor and auditory cortices. Significant co‐expression rates in these regions with genes previously implicated in disorders of spoken language and in ASD support the phenotypic overlaps in children with BCL11A‐IDD, CAS, and ASD.
The impacts of seasonal variation and climate on food utilization in a population of critically endangered cotton‐top tamarins (Saguinus oedipus) in Colombia: A 22‐year longitudinal study
Authors: Savage A. , Snowdon C. T. , Soto L. , Castro J. , Medina F. , Emeris G. , Garcia L. C. , Guillen R. 
Published: July 2022

AbstractTo examine how precipitation patterns and climate change impact feeding choices made by a population of critically endangered cotton‐top tamarins (Saguinus oedipus), we examined 22 years of feeding data (1999–2020) from 21 groups collected at Parque Natural Regional Bosque Seco El Ceibal Mono Tití in Santa Catalina, Colombia. We describe the diet and examine the role of seasonal rainfall and annual variation in rainfall on diet. Rainfall is highly seasonal (mean annual rainfall 1562 mm [range 940–2680 mm]) with a dry, early rainy, and late rainy season in each year. Over 80 species of plants formed part of the fruit, nectar, and exudate components of the diet. Fruits, although available year‐round, were more commonly available and consumed during the late rainy seasons (August–November). Exudates were consumed more frequently in the dry season (December–March) and invertebrate consumption was stable across the year. Nectar feeding from a single species (Combretum fruticosum) peaked in November. Rainfall varied over the years, with 13 years exceeding the 99% confidence intervals for mean rainfall. Ten of these extreme years (both drought and extremely wet) occurred in the last 11 years. Fruit consumption did not vary between extreme and average years, but cotton‐top tamarins consumed more invertebrates and exudates in wet years. Presently, cotton‐top tamarins appear to be able to cope with these extreme variations in rainfall due to their highly varied diet. However, the forests that these primates depend upon for survival are threatened by human exploitation making it critically important to maintain a generalist feeding strategy for survival as many fruiting trees that compose a large proportion of the diet are removed. As conservation efforts continue, plant species consumed by cotton‐top tamarins provide useful data when selecting species for habitat restoration programs.
Development of an optimized preoperative computed tomography imaging checklist for endoscopic sinus surgery utilizing a systematic review of the literature and the modified Delphi method
Authors: Leong Stephen , Yang Nathan , Ray Amrita , Akbar Nadeem , Colley Patrick M. , Signore Anthony Del , Eloy Jean Anderson , Govindaraj Satish , Gudis David A. , Helman Samuel , Hsueh Wayne , Iloreta Alfred‐Marc , Kacker Ashutosh , Lieberman Seth , Pearlman Aaron N. , Schaberg Madeleine R. , Tabaee Abtin , Overdevest Jonathan B. ,   New York Rhinology Consortium
Published: July 2022

AbstractBackgroundCritical review of computed tomography (CT) imaging is essential in preoperative planning for endoscopic sinus surgery. In this study, we used a systematic review and a modified Delphi method to develop a comprehensive checklist that facilitates preoperative review of sinus CT imaging.MethodsWe performed a systematic review of PubMed, Embase, CINAHL, Cochrane, and Web of Science databases to identify existing checklists developed to evaluate sinus CT imaging. An inclusive list of items from these checklists was compiled and a modified Delphi methodology was used to assign ranked priority. The Delphi process involved 14 rhinologists and had three phases: an initial survey with Likert priority (scale of 1–9) and two rounds of live discussions followed by survey to confirm consensus.ResultsNinety‐seven possible checklist items were identified from a systematic review and panelist input. On initial survey, 63 items reached a consensus score of 7+, and 13 items had near consensus scores between 6 and 7; two of these 13 borderline items were retained after subsequent panelist discussion. The resulting items were consolidated into an 11‐item disease checklist and a 24‐item anatomical checklist; the anatomical checklist was further divided into six subsections: nasal cavity, maxillary, ethmoid, sphenoid, frontal, skull base, and orbit. Additionally, panelists identified six core aspects of patient history to consider prior to surgery.ConclusionsAfter establishing content validity through a systematic literature review and a modified Delphi method, we developed a comprehensive checklist for preoperative sinus CT imaging review; implementation and evaluation of validity among trainees will suggest overall utility.
Site‐Selective (Z)‐α‐Borylalkenyl Copper Systems for Nucleophilic Stereodefined Allylic Coupling
Authors: Pujol Mireia , Maza Ricardo J. , Salvado Oriol , Carbó Jorge J. , Fernández Elena 
Published: July 2022

Abstract1,1‐Diborylalkenes can be transformed into (Z)‐skipped dienes through CuI‐phosphine catalyzed allylic coupling reactions. The energetically preferred formation of (Z)‐α‐borylalkenyl copper (I) species and the subsequent nucleophilic attack, explains the stereoselective nucleophilic substitution with allyl bromides. The eventual treatment of (Z)‐skipped dienes with NaOtBu promotes cyclization/aromatization patterns via enyne intermediates.
Blending the Optical and Redox Properties of Oligoynes and Boron Difluoride Formazanates
Authors: Dhindsa Jasveer S. , Cotterill Erin L. , Buguis Francis L. , Anghel Michael , Boyle Paul D. , Gilroy Joe B. 
Published: July 2022

AbstractOligoynes and polyynes are 1D chains of conjugated sp‐hybridized carbon atoms consisting of alternating single and triple bonds. Their stability rapidly decreases with increasing chain length beyond only a few repeating units. Design strategies, such as the use of bulky end‐capping groups, allow for their characterization and isolation while not contributing significantly to their physical properties. In this study, we incorporate redox‐active BF2 formazanate dyes (BF2) as end‐caps to prepare symmetric (BF2−[C≡C]n−BF2) and asymmetric (BF2−[C≡C]n−Si(iPr)3) families of oligoynes containing up to 10 alkyne units. In doing so, we introduce stable oligoynes that possess a blend of optical and redox properties that cannot be achieved by either oligoynes or BF2 formazanates individually (e.g., panchromatic absorption, multiple and tunable reversible redox waves). This approach is transferable to other functional end‐caps to facilitate the preparation of π‐conjugated materials with utility in the organic electronics arena.
Recent Advances in Single‐Junction Organic Solar Cells
Authors: Yao Huifeng , Hou Jianhui 
Published: July 2022

AbstractSingle‐junction organic solar cells (OSCs) have made significant progress in recent years. Innovations in material design and device optimization have improved the power conversion efficiencies to over 19 %. In this Minireview, based on recent advances, we discuss molecular design strategies to tune the absorption spectrum, energy level, and intermolecular aggregation as well as highlight the role of molecular electrostatic potential in decreasing energy loss. Then, we introduce the latest progress in four types of OSCs composed of different donor:acceptor combinations: polymer donor:small‐molecule acceptor, all‐polymer, all‐small‐molecule, and small‐molecule donor:polymer acceptor. Finally, the challenges of OSCs in practical applications, including material cost, stability, and multi‐function integration, are discussed.
Identification and Structure Analysis of an Unusual Halohydrin Dehalogenase for Highly Chemo‐, Regio‐ and Enantioselective Bio‐Nitration of Epoxides
Authors: Wang Hui‐Hui , Wan Nan‐Wei , Miao Run‐Ping , He Cheng‐Li , Chen Yong‐Zheng , Liu Zhi‐Qiang , Zheng Yu‐Guo 
Published: July 2022

AbstractWe report the discovery of an unusual halohydrin dehalogenase, HHDHamb, that can work under relatively low acidic conditions and extremely low temperatures for the bio‐nitration of epoxides using nitrite as a nitrating agent. The bio‐nitration strategy exhibits high chemo‐, regio‐, and enantioselectivity, catalyzing the kinetic resolution of various epoxides to enantiopure β‐nitroalcohols with nitro‐bearing stereocenters in up to 41 % isolated yield and >99 % enantiomeric excess (ee). Additionally, the bio‐nitration method displays a high reaction efficiency and can be performed on a gram scale. We also solved the crystal structure of HHDHamb to understand the possible structural determinants of chemoselectivity control in the bio‐nitration reaction.
Semisynthesis of Homogeneous, Active Granulocyte Colony‐Stimulating Factor Glycoforms
Authors: Kerul Lukas , Schrems Maximilian , Schmid Alanca , Meli Rajeshwari , Becker Christian F. W. , Bello Claudia 
Published: July 2022

AbstractGranulocyte colony stimulating factor (G‐CSF) is a cytokine used to treat neutropenia. Different glycosylated and non‐glycosylated variants of G‐CSF for therapeutic application are currently generated by recombinant expression. Here, we describe our approaches to establish a first semisynthesis strategy to access the aglycone andO‐glycoforms of G‐CSF, thereby enabling the preparation of selectively and homogeneously post‐translationally modified variants of this important cytokine. Eventually, we succeeded by combining selenocysteine ligation of a recombinantly produced N‐terminal segment with a synthetic C‐terminal part, transiently equipped with a side‐chain‐linked, photocleavable PEG moiety, at low concentration. The transient PEGylation enabled quantitative enzymatic elongation of the carbohydrate at Thr133. Overall, we were able to significantly reduce the problems related to the low solubility and the tendency to aggregate of the two protein segments, which allowed the preparation of four G‐CSF variants that were successfully folded and demonstrated biological activity in cell proliferation assays.
Circularly Polarized Luminescence in a Möbius Helicene Carbon Nanohoop**
Authors: Malinčík Juraj , Gaikwad Sudhakar , Mora‐Fuentes Juan P. , Boillat Marc‐Aurèle , Prescimone Alessandro , Häussinger Daniel , Campaña Araceli G. , Šolomek Tomáš 
Published: July 2022

AbstractWe present the first helicene carbon nanoohop that integrates a [6]helicene into [7]cycloparaphenylene. The [6]helicene endows the helicene carbon nanohoop with chiroptical properties and configurational stability typical for higher helicenes, while the radially conjugated seven para‐phenylenes largely determine the optoelectronic properties. The structure of the helicene carbon nanoohop was unambiguously characterized by NMR, MS and X‐ray analysis that revealed that it possesses a topology of a Möbius strip in the solid state and in solution. The chirality transfers from the [6]helicene to the para‐phenylenes and leads to a pronounced circular dichroism and bright circularly polarized luminescence, which is affected by the structural topology of the nanohoop.
Design and Growth of Branched Organic Crystals: Recent Advances and Future Applications
Authors: Shi Ying‐Li , Lv Qiang , Tao Yi‐Chen , Ma Ying‐Xin , Wang Xue‐Dong 
Published: July 2022

AbstractThe rapid development of information technology has resulted in a growing demand for low‐dimensional photonic materials. Organic semiconductor materials play an important role in various photonic devices due to their adjustable physicochemical properties, while individual organic crystals do not exhibit the desired performance due to the limitations of their simple structure. Branched organic crystals with inherent multichannel characteristics based on π‐conjugated molecules are favorable components in optoelectronics. However, the preparation of branched organic crystals still faces great challenges before they can be applied in integrated optoelectronic devices. In this Review, the development and representative examples of branched organic crystals in terms of molecular design, synthesis, and advanced applications are discussed. We also provide a summary and outlook for the direction of future research on branched organic crystals as excellent candidates in photonic integrated circuits.
On the Bonding Nature in the Crystalline Tri‐Thorium Cluster: Core‐Shell Syngenetic σ‐Aromaticity
Authors: Lin Xuhui , Mo Yirong 
Published: July 2022

AbstractA unique thorium‐thorium bond was observed in the crystalline tri‐thorium cluster [{Th(η8‐C8H8)(μ3‐Cl)2}3{K(THF)2}2]∞, though the claim of σ‐aromaticity for Th3bond has been questioned. Herein, a new type of core–shell syngenetic bonding model is proposed to describe the stability of this tri‐thorium cluster. The model involves a 3c–2e bond in the Th3core and a multicentered (ThCl2)3charge‐shift bond with 12 electrons scattering along the outer shell. To differentiate the strengths of the 3c–2e bond and the charge‐shift bond, the block‐localized wavefunction (BLW) method which falls into the ab initio valence bond (VB) theory is employed to construct a strictly core/shell localized state and its contributing covalent resonance structure for the Th3core bond. By comparing with the σ‐aromatic H3+and nonaromatic Li3+, the computed resonance energies and extra cyclic resonance energies confirm that this Th3core bond is truly delocalized and σ‐aromatic.
Nonisothermal cure behavior and kinetics of cerium‐doped Fe3O4/epoxy nanocomposites
Authors: Jouyandeh Maryam , Ganjali Mohammad Reza , Rezapour Morteza , Mohaddespour Ahmad , Jabbour Karam , Vahabi Henri , Rabiee Navid , Habibzadeh Sajjad , Formela Krzysztof , Saeb Mohammad Reza 
Published: July 2022

How does the cerium (Ce) doping in ferrimagnetic magnetite (Fe3O4) affect the crosslinking state and kinetics of epoxy crosslinking with amine curing agents? To answer this question, we electrochemically synthesized nanoparticles of Ce–Fe3O4 and characterized them by FTIR, XRD, FE‐SEM, EDX, TEM, and XPS analyses. The presence of Ce atoms in Fe3O4 crystalline lattice increased the surface area and active hydroxyl sites of the prepared magnetic nanoparticles (MNPs) associated with partial shrinkage of molecular lattice. The MNPs uniformly dispersed in epoxy resin and unconditionally tagged epoxy nanocomposites as Excellent cured systems. The effect of lanthanide doping on the cure kinetics of epoxy with amine was explored applying nonisothermal DSC and model‐free kinetic approaches, signifying that Ce–Fe3O4 nanoparticles facilitated epoxy ring opening by intensification of etherification reaction whatever the heating rate. Even at very low loading of Ce–Fe3O4 nanoparticles into the epoxy (0.1 wt.%), the average apparent activation energy significantly decreased by ≈10%. This outcome would highlight the role of crosslinking on the ultimate properties, such as anticorrosive and/or self‐healing characteristics contributed by Ce‐doped nanoparticles once added to epoxy coating formulation.
Electronic and optical properties of Nb/V‐doped WS2 monolayer: A first‐principles study
Authors: Kumar Vipin , Mishra Rajneesh Kumar , Kumar Pushpendra , Gwag Jin Seog 
Published: July 2022

AbstractThe electronic, dielectric, and optical properties of pure and Nb/V‐doped WS2 monolayer are being investigated using the first‐principles density functional theory (DFT). The electronic band structure calculations reveal that the pure and doped WS2 monolayer is a direct band gap semiconductor. It is seen that the doping not only slightly reduces the band gap but also changes the n‐type character of pure WS2 monolayer to the p‐type character. Hence, it may be useful for channel material in field effect transistors (FETs). Moreover, the optical studies reveal that the WS2 monolayer shows a significantly good optical response. However, a small ultraviolet shift is observed in the optical response of the doped case compared to the pristine WS2 monolayer. This study suggests that the WS2 monolayer can be a possible optical material for optoelectronic applications, and it can also be a replacement of MoS2‐based future electronics and optoelectronics.
A discovery‐based undergraduate laboratory exercise to investigate the effect of potential endocrine disruptors on sex hormones using human cell culture
Authors: Kuzmanov Aleksandra , Zwiesler‐Vollick Julie 
Published: July 2022

AbstractIn this laboratory exercise, students have an opportunity to evaluate the potential endocrine disrupting abilities of environmental chemicals of their choice using human cell culture. Over the course of 9 weeks, students learn how to aseptically handle and manipulate cells, perform and analyze a cytotoxicity assay and an enzyme‐linked immunosorbent assay. Following completion of the module, the majority of students reported large or very large gains not only in laboratory performance, but also in understanding of the scientific literature and research process, as well as scientific communication skills. The student survey results imply that this authentic laboratory experience improves students' scientific literacy and prepares them for future careers in science.
Quantitative profiling of differentially expressed oxylipins in ADSCs under proinflammatory cytokine stimulation
Authors: Shen Zhengze , Wang Dan , Yu Chaoqun , Peng Yongbo , Cheng Lifang , Zhang Yuan 
Published: July 2022

AbstractMesenchymal stem cells (MSCs) have been proved to have anti‐inflammatory capabilities, but the mechanisms are still under investigation. Recently, oxylipins have been identified as being related to the immuno‐regulation function of MSCs, but the MSC‐derived oxylipins, especially under the stimulation of versatile pro‐inflammatory cytokines, have never been comprehensively analyzed. In the present research, a UPLC–MS/MS method was employed to identify and quantify the oxylipin profiles of adipose‐derived mesenchymal stem cells (ADSCs) under cytokine stimulation (IL‐1β, TNF‐α, IFN‐𝛾 and TNF‐α + IFN‐𝛾). The differentially produced oxylipins between experimental groups were analyzed and compared. The elevated level of lipoxygenase‐15 (LOX‐15) mRNA was further verified by qRT‐PCR analysis. From the targeted 71 oxylipins, we detected and quantified 57 oxylipins, while 14 were not detected. Distinctive from other cytokines, ADSCs activated by the combination of IFN‐𝛾 and TNF‐α up‐regulated LOX‐15 products 7‐HDHA and 15‐HEPE, which were metabolized from docosahexaenoic acid (DHA) and eicosapentaenoic acid, respectively, and involved in the pro‐resolution phase of inflammation. The results reported here make a first step towards a comprehensive characterization of MSC‐derived oxylipins under differential proinflammatory cytokine stimulation. The findings may lay a fundamental foundation for MSC‐based therapies and further determine ways to optimize the therapeutic potential of MSCs.
Bioanalytical assay for the quantification of the tyrosine kinase inhibitor EAI045 and its major metabolite PIA in mouse plasma and tissue homogenates using liquid chromatography–tandem mass spectrometry
Authors: Susam M. Merve , Wang Jing , Schinkel Alfred H. , Beijnen Jos H. , Sparidans Rolf W. 
Published: July 2022

AbstractEAI045 is a tyrosine kinase inhibitor (TKI) that targets the mutant epidermal growth factor receptor (EGFR). It was developed to control resistance to available EGFR TKIs. In this study, a major metabolite of EAI045, (5‐fluoro‐2‐hydroxyphenyl)(1‐oxo‐1,3‐dihydro‐2H‐isoindol‐2‐yl)acetic acid (PIA), was discovered as a hydrolysis product of the parent drug. A validated assay for both analytes in mouse plasma and tissue homogenates from brain, kidney, liver, lung, spleen, and small intestine with content was set up using LC–MS/MS. Samples were prepared by protein precipitation with acetonitrile and with PLX4720 as internal standard. Separation was performed on a bridged ethylene hybrid C18 column by gradient elution with 0.1% v/v formic acid and methanol. Using positive electrospray, detection was performed in selected reaction monitoring mode. A linear calibration range of 2–2,000 ng/ml was used and validated for both analytes. Precision values ranged between 2.0 and 7.5% for EAI045 and between 2.2 and 12.1% for the metabolite, and accuracy values were between 91.1 and 107.6% for EAI045 and between 87.6 and 100.6% for the metabolite. Both analytes were sufficiently stable under the relevant analytical conditions. Finally, the assay was applied to analyze mouse plasma and tissue levels in a pharmacokinetic study in FVB/NRj wild‐type female mice treated with oral EAI045.
Treatment of Obese Zebrafish with Saringosterol Acetate through AMP Activated Protein Kinase Pathway
Authors: Zhou Dong‐Yue , Fu Yun‐Hua , Li Fang‐Tong , Yang Di , Wei Li‐Na , Yue Hao , Dai Yu‐Lin , Jeon You‐Jin 
Published: July 2022

AbstractObject: Edible Brown Seaweed Sargassum fusiforme (Harvey) Setchell, 1931 abbreviated asSargassum fusiformewas used for folk medical therapy in East Asia countries over five hundred years. Saringosterol acetate (SA) was isolated fromS. fusiformein our previous study and indicated various effects. However, anti‐obesity activity of SA and its mechanism still unknown.Method: The inhibitory effect of SA, isolated fromS. fusiforme, on adipogenesis in 3T3‐L1 adipocytes was investigatedin vitroand in zebrafish model. Cell toxicity, differentiation, signaling pathway, and lipid accumulation of SA treated 3T3‐L1 adipocytes were determined. The body weight and triglyceride content of diet‐induced obese (DIO) adult male zebrafish were measured from 12 to 17 weeks after fertilization.Result: SA attenuated the differentiation of cells and reduced lipid accumulation, and triglyceride content in the 3T3‐L1 adipocytes. During the differentiation of adipocytes, SA suppressed fat accumulation and decreased the expression of signal factors responsible for adipogenesis. In SA‐treated adipocytes, while fatty acid synthetase was downregulated, AMP‐activated protein kinase (AMPK) was upregulated. Furthermore, SA suppressed body weight and triglyceride content in DIO zebrafish.Conclusion: SA is a potential therapeutic agent in the management of metabolic disorders, such as obesity.