bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation
Authors: You Cuiping , Xu Na , Qiu Shiyan , Li Yufen , Xu Liyun , Li Xia , Yang Li 
Published: August 2020

AbstractIntroductionG elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a novel composition of two heterozygous mutations of GFM1 in a boy with epilepsy, mental retardation, and other unusual phenotypes.MethodsThe patient was found to be blind and experienced recurrent convulsive seizures such as nodding and hugging at the age of 3 months. After antiepileptic treatment with topiramate, he had no obvious seizures but still had mental retardation. The patient vomited frequently at 16 months old, sometimes accompanied by epileptic seizures. Hematuria metabolic screening, mutation screening of mitochondrial gene, and mitochondrial nuclear gene were negative. Then, he was analyzed by whole‐exome sequencing (WES).ResultsWhole‐exome sequencing revealed a novel composition of two heterozygous mutations in GFM1, the maternal c.679G > A (has not been reported) and the paternal c.1765‐1_1765‐2del (previously reported). At present, there is no specific and effective treatment for the disease, and the prognosis is very poor.ConclusionThe discovery of new phenotypes and new genotypes will further enrich the diagnosis information of the disease and provide more experiences for clinicians to quickly diagnose the disease and judge the prognosis.
In situ forming microporous gelatin methacryloyl hydrogel scaffolds from thermostable microgels for tissue engineering
Authors: Zoratto Nicole , Di Lisa Donatella , de Rutte Joseph , Sakib Md Nurus , Alves e Silva Angelo Roncalli , Tamayol Ali , Di Carlo Dino , Khademhosseini Ali , Sheikhi Amir 
Published: August 2020

AbstractConverting biopolymers to extracellular matrix (ECM)‐mimetic hydrogel‐based scaffolds has provided invaluable opportunities to design in vitro models of tissues/diseases and develop regenerative therapies for damaged tissues. Among biopolymers, gelatin and its crosslinkable derivatives, such as gelatin methacryloyl (GelMA), have gained significant importance for biomedical applications due to their ECM‐mimetic properties. Recently, we have developed the first class of in situ forming GelMA microporous hydrogels based on the chemical annealing of physically crosslinked GelMA microscale beads (microgels), which addressed several key shortcomings of bulk (nanoporous) GelMA scaffolds, including lack of interconnected micron‐sized pores to support on‐demand three‐dimensional‐cell seeding and cell–cell interactions. Here, we address one of the limitations of in situ forming microporous GelMA hydrogels, that is, the thermal instability (melting) of their physically crosslinked building blocks at physiological temperature, resulting in compromised microporosity. To overcome this challenge, we developed a two‐step fabrication strategy in which thermostable GelMA microbeads were produced via semi‐photocrosslinking, followed by photo‐annealing to form stable microporous scaffolds. We show that the semi‐photocrosslinking step (exposure time up to 90 s at an intensity of ~100 mW/cm2 and a wavelength of ~365 nm) increases the thermostability of GelMA microgels while decreasing their scaffold forming (annealing) capability. Hinging on the tradeoff between microgel and scaffold stabilities, we identify the optimal crosslinking condition (exposure time ~60 s) that enables the formation of stable annealed microgel scaffolds. This work is a step forward in engineering in situ forming microporous hydrogels made up from thermostable GelMA microgels for in vitro and in vivo applications at physiological temperature well above the gelatin melting point.
Lipase activation by molecular bioimprinting: The role of interactions between fatty acids and enzyme active site
Authors: Brandão Luma M. de S. , Barbosa Milson S. , Souza Ranyere L. , Pereira Matheus M. , Lima Álvaro S. , Soares Cleide M. F. 
Published: August 2020

AbstractBioimprinting is an easy, sustainable and low‐cost technique that promotes a printing of potential substrates on enzyme structure, inducing a more selective and stable conformation. Bioimprinting promotes conformational changes in enzymes, resulting in better catalytic performance. In this work, the effect of bioimprinting of Burkholderia cepacia lipase (BCL) and porcine pancreatic extracts (PPE) with four different fatty acids (lauric acid (C12:0), myristic acid (C14:0), palmitic acid (C16:0), and stearic acid (C18:0)) was investigated. The results demonstrated that the better bioimprinting effect was in BCL with lauric acid in esterification reaction, promoting BCL activation in which relative enzyme activity was 70 times greater than nonimprinted BCL. Bioimprinting results were influenced by the carbon chain length of fatty acids imprinted in the BCL, in which the effects were weaker with the chain increase. Molecular docking was performed to better understand the bioimprinting method. The results of these simulations showed that indeed all fatty acids were imprinted in the active site of BCL. However, lauric acid presented the highest imprinting preference in the active site of BCL, resulting in the highest relative activity. Furthermore, Fourier transform infrared (FTIR) analysis confirmed important variations in secondary structure of bioimprinting BCL with lauric acid, in which there was a reduction in the α‐helix content and an increase in the β‐sheet content that facilitated substrate access to the active site of BCL and led higher rigidity, resulting in high activity. Bioimprinted BCL with lauric acid showed excellent operational stability in esterification reaction, maintaining its original relative activity after five successive cycles. Thus, the results show that bioimprinting of BCL with lauric acid is a successful strategy due to its high catalytic activity and reusability.
Predictive model for risk of gastric cancer using genetic variants from genome‐wide association studies and high‐evidence meta‐analysis
Authors: Qiu Lixin , Qu Xiaofei , He Jing , Cheng Lei , Zhang Ruoxin , Sun Menghong , Yang Yajun , Wang Jiucun , Wang Mengyun , Zhu Xiaodong , Guo Weijian 
Published: August 2020

AbstractGenome‐wide association studies (GWAS) have identified some single nucleotide polymorphisms (SNPs) associated with the risk of gastric cancer (GCa). However, currently, there is no published predictive model to assess the risk of GCa. In the present study, risk‐associated SNPs derived from GWAS and large meta‐analyses were selected to construct a predictive model to assess the risk of GCa. A total of 1115 GCa cases and 1172 controls from the eastern Chinese population were included. Logistic regression models were used to identify SNPs that correlated with the risk of GCa. A predictive model to assess the risk of GCa was established by receiver operating characteristic curve analysis. Multifactor dimensionality reduction (MDR) and classification and regression tree (CART) were applied to calculate the effect of high‐order gene‐environment interactions on risk of the cancer. A total of 42 SNPs were selected for further analysis. The results revealed that ASH1L rs80142782, PKLR rs3762272, PRKAA1 rs13361707, MUC1 rs4072037, PSCA rs2294008, and PLCE1 rs2274223 polymorphisms were associated with a risk of GCa. The area under curve considering both genetic factors and BMI was 3.10% higher than that of BMI alone. MDR analysis revealed that rs13361707 and rs4072307 variants and BMI had interaction effects on susceptibility to GCa, with the highest predictive accuracy (61.23%) and cross‐validation consistency (100/100). CART analysis also supported this interaction model that non‐overweight status and a six SNP panel could synergistically increase the susceptibility to GCa. The six SNP panel for predicting the risk of GCa may provide new tools for prevention of the cancer based on GWAS and large meta‐analyses derived genetic variants.
ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells
Authors: Lu Di , Yang Zhiyu , Xia Qiaoyun , Gao Shanjun , Sun Suofeng , Luo Xiaoying , Li Zhen , Zhang XiuLei , Li Xiuling 
Published: August 2020

AbstractColorectal cancer (CRC) is one of the most pressing health issues in today's society. As such, it is imperative that the scientific community devise effective methods to inhibit the proliferation and metastasis of CRC cells. Ferroptosis is a recently discovered regulatory cell death mode mainly manifested by dysregulation of cellular iron metabolism and mitochondrial lipid peroxidation. ACADSB is a member of the acyl‐CoA dehydrogenase. This study finds that ACADSB is lowly expressed in CRC tissues. Its expression is negatively correlated with N‐ and M‐stage CRC but positively correlated with the overall survival rate of CRC patients. In addition, it finds that ACADSB is found in the mitochondria of cells. Overexpression of ACADSB inhibits CRC cell migration, invasion, and proliferation, while ACADSB knockdown has the opposite effect. More importantly, the study finds that ACADSB negatively regulates expression of glutathione reductase and glutathione peroxidase 4, the two main enzymes responsible for clearing glutathione (GSH) in CRC cells. ACADSB overexpression enhances the concentration of malondialdehyde, Fe+, superoxide dismutase, and lipid peroxidation in CRC cells, but reduces the concentration of GSH. This is significant, as all of these are important indicators of ferroptosis. Evaluating the data as a whole, this paper speculates that ACADSB affects CRC cell migration, invasion, and proliferation by regulating CRC cell ferroptosis.
Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
Authors: Hatt Lotte , Singh Ripudaman , Christensen Rikke , Ravn Katarina , Christensen Inga B , Jeppesen Line Dahl , Nicolaisen Bolette Hestbek , Kølvraa Mathias , Schelde Palle , Andreassen Lotte , Farlie Richard , Uldbjerg Niels , Vogel Ida 
Published: August 2020

AbstractIn two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
Asymmetric Synthesis of Multi‐substituted Prolines via a Catalytic 1,3‐Dipolar Cycloaddition Using a Monocationic ZnIIOAc Complex of a Chiral Bisamidine Ligand, Naph‐diPIM‐dioxo‐R
Authors: Chaithanya Kiran I. N. , Fujita Kazuki , Tanaka Shinji , Kitamura Masato 
Published: August 2020

AbstractA monocationic zinc acetate complex of chiral bisamidine‐type bidentate ligand (R)‐ or (S)‐Naph‐diPIM‐dioxo‐iPr (LR or LS) catalyzes a 1,3‐dipolar cycloaddition between tridentate‐type imino esters and acrylates in the absence of an external base to give the corresponding multi‐substituted prolines with high reactivity, diastero‐/enantio‐/regio‐selectivity, productivity, and broad generality. An anionic acetate ligand of the Lewis acidic Zn complex acts as a Brønsted base to facilitate a smooth intramolecular deprotonation to generate an imino N,O‐cis‐Zn enolate. The oxygen atoms of two dioxolanes of the LR/LS ligand form a C2 chiral scaffold that coordinates the Zn enolate via a non‐bonding n‐π* interaction. This view is supported by the lack of enantioselectivity obtained with an sp2N‐based Ph‐BOX ligand that has no oxygen atom in the reaction site.
Functionalized Single‐Walled Carbon Nanohorns to Reinforce Sulfonated Poly(ether ether ketone) Electrolyte for Direct Methanol Fuel Cells
Authors: Turanelloormana Parameswaran , Sarmah Sudeshna , Torris Arun , Bhat Santoshkumar D. , Unni Sreekuttan M. 
Published: August 2020

AbstractCarbon‐nanomaterial‐based additives are promising materials for improving the physicochemical properties of sulfonated polyether ether ketone (sPEEK) for its use as composite membrane electrolyte in direct methanol fuel cells (DMFCs). In this work, functionalized single‐wall carbon nanohorns (f‐SWNHs) are realized as an additive in sPEEK. The −COOH groups created on the SWNHs during peroxide treatment improve the dispersion of f‐SWNHs in sPEEK and boost the proton conductivity, ion exchange capacity, mechanical properties and reduce the methanol permeability of the electrolyte. The composite membrane with 0.50 wt.% f‐SWNHs shows improved electrochemical selectivity of 17.03×10−4 Scm−3s and delivers the highest peak power density of 230 mW cm−2 in DMFCs.
New Li0.8M0.1Ti2(PO4)3 (M=Co, Mg) Electrode Materials for Lithium‐Ion Batteries: In Operando X‐Ray Diffraction and Ex Situ X‐ray Photoelectron Spectroscopy Investigations
Authors: Aziam Hasna , Darma Mariyam Susana Dewi , Knapp Michael , Indris Sylvio , Ehrenberg Helmut , Trouillet Vanessa , Saadoune Ismael 
Published: August 2020

AbstractPure Li0.8M0.1Ti2(PO4)3 (M: Co, Mg) phosphates with the NASICON‐type structure were synthesized using a solid‐state reaction. Depending on the cation, M, the synthesis temperature and the annealing duration were optimized. The electrochemical performances of Li0.8M0.1Ti2(PO4)3 were evaluated as negative electrode materials for Li‐ion batteries over two different voltage ranges, 1.5–3.0 V and 1.0–3.0 V. The best electrochemical results were obtained for the voltage range 1.5–3.0 V with discharge capacities of 100 mAh g−1 and 80 mAh g−1 for Li0.8Co0.1Ti2(PO4)3 and Li0.8Mg0.1Ti2(PO4)3, respectively, over 20 cycles with capacity retentions exceeding 80 %. Raman spectroscopy was used to confirm the formation of the carbon layer after the carbon‐coating procedure. In operando XRD was performed to investigate the structural changes upon the first discharge/charge cycle, showing the progressive evolution of Li‐poor and Li‐rich phase fractions. Ex situ XPS analysis was conducted to follow the oxidation state of titanium during the insertion/de‐insertion of lithium ions, demonstrating that the redox couple (Ti4+/Ti3+) is reversibly active during the electrochemical cycling.
A comparison between Box–Behnken design and artificial neural network: Modeling of removal of Phenol Red from water solutions by nanocobalt hydroxide
Authors: Asanjarani Neda , Bagtash Maryam , Zolgharnein Javad 
Published: August 2020

AbstractHere, we describe the successful removal of Phenol Red from aqueous solutions by nanocobalt hydroxide. Also two approaches, artificial neural network (ANN) and Box–Behnken design (BBD), are used to investigate predictive models for simulation and optimization of the dye removal process. The effect of process variables (such as pH, sorbent dosage, and Phenol Red concentration) on the removal efficiency are investigated through performing the BBD. A training set for ANN is obtained using the same design. Statistical values show ANN model is superior to BBD model. Based on the validation data set, ANN model has higher value of coefficient of determination (R2: 0.99 ANN > 0.84 BBD), lower values of root mean square error of prediction (RMSEP: 3.17 ANN < 3.99 BBD), mean square error (MSE: 10.08 ANN < 15.95 BBD), and relative standard error of prediction (REP: 3.89 ANN < 4.89 BBD). According to obtained results, ANN has better prediction performance in comparison with BBD. In addition, the maximum removal efficiency (%Rmax = 99.9) is found at the initial concentration of dye = 68.08 (mg/L), pH = 2.0, and sorbent mass = 9.57 g/L by performing the BBD.
On‐Demand Hydrophobic Drug Release Based on Microwave‐Responsive Graphene Hydrogel Scaffolds
Authors: Leganés Bayón Jorge , Sánchez‐Migallón Ana , Díaz‐Ortiz Ángel , Castillo Carlos Alberto , Ballesteros‐Yáñez Inma , Merino Sonia , Vázquez Ester 
Published: August 2020

AbstractElectromagnetically driven drug delivery systems stand out among stimulus‐responsive materials due to their ability to release cargo on demand by remote stimulation, such as light, near infrared (NIR) or microwave (MW) radiation. MW‐responsive soft materials, such as hydrogels, generally operate at 2.45 GHz frequencies, which usually involves rapid overheating of the scaffold and may affect tissue surrounding the target location. In contrast, 915 MHz MW penetrate deeper tissues and are less prone to induce rapid overheating. In order to circumvent these limitations, we present here for the first time a graphene‐based hydrogel that is responsive to MW irradiation of ν=915 MHz. This system is a candidate soft scaffold to deliver a model hydrophobic drug. The graphene present in the hydrogel acts as a heat‐sink and avoids overheating of the scaffold upon MW irradiation. In addition, the microwave trigger stimulates the in vitro delivery of the model drug, thus suggesting a remote and deep‐penetrating means to deliver a drug from a delivery reservoir. Moreover, the MW‐triggered release of drug was observed to be enhanced under acidic conditions, where the swelling state is maximum due to the swelling‐induced pH‐responsiveness of the hydrogel. The hybrid composite described here is a harmless means to deliver remotely a hydrophobic drug on demand with a MW source of 915 MHz. Potential use in biomedical applications were evaluated by cytotoxicity tests.
Laser Access to Quercetin Radicals and Their Repair by Co‐antioxidants
Authors: Kohlmann Tim , Goez Martin 
Published: August 2020

AbstractWe have demonstrated the feasibility and ease of producing quercetin radicals by photoionization with a pulsed 355 nm laser. A conversion efficiency into radicals of 0.4 is routinely achieved throughout the pH range investigated (pH 2–9), and the radical generation is completed within a few ns. No precursor other than the parent compound is needed, and the ionization by‐products do not interfere with the further fate of the radicals. With this generation method, we have characterized the quercetin radicals and studied the kinetics of their repairs by co‐antioxidants such as ascorbate and 4‐aminophenol. Bell‐shaped pH dependences of the observed rate constants reflect opposite trends in the availability of the reacting protonation forms of radical and co‐antioxidant and even at their maxima mask the much higher true rate constants. Kinetic isotope effects identify the repairs as proton‐coupled electron transfers. An examination of which co‐antioxidants are capable of repairing the quercetin radicals and which are not confines the bond dissociation energies of quercetin and its monoanion experimentally to 75–77 kcal mol−1 and 72–75 kcal mol−1, a much narrower interval in the case of the former than previously estimated by theoretical calculations.
A Sterically Hindered Derivative of 2,1,3‐Benzotelluradiazole: A Way to the First Structurally Characterised Monomeric Tellurium–Nitrogen Radical Anion
Authors: Petrov Pavel A. , Kadilenko Evgeny M. , Sukhikh Taisiya S. , Eltsov Ilia V. , Gushchin Artem L. , Nadolinny Vladimir A. , Sokolov Maxim N. , Gritsan Nina P. 
Published: August 2020

AbstractInteraction of the tetradentate redox‐active 6,6′‐[1,2‐phenylenebis(azanediyl)]bis(2,4‐di‐tert‐butylphenol) (H4L) with TeCl4 leads to neutral diamagnetic compound TeL (1) in high yield. The molecule of 1 has a nearly planar TeN2O2 fragment, which suggests the formulation of 1 as TeIIL2−, in agreement with the results of DFT calculations and QTAIM and NBO analyses. Reduction of 1 with one equivalent of [CoCp2] leads to quantitative formation of the paramagnetic salt [CoCp2]+[1].−, which was characterised by single‐crystal XRD. The solution EPR spectrum of [CoCp2]+[1].− at room temperature features a quintet due to splitting on two equivalent 14N nuclei. Below 150 K it turns into a broad singlet line with two weak satellites due to the splitting on the 125Te nucleus. Two‐component relativistic DFT calculations perfectly reproduce the a(14N) HFI constants and A∥(125Te) value responsible for the low‐temperature satellite splitting. Calculations predict that the additional electron in 1.− is localised mainly on L, while the spin density is delocalised over the whole molecule with significant localisation on the Te atom (≥30 %). All these data suggest that 1.− can be regarded as the first example of a structurally characterised monomeric tellurium–nitrogen radical anion.
Disentangling Multiple Effects on Excited‐State Intramolecular Charge Transfer among Asymmetrical Tripartite PPI‐TPA/PCz Triads
Authors: Yang Sirui , Cao Chen , Islam Amjad , Sun Shanshan , Deng Ziqi , Li Jiayu , Ni Shaofei , Tong Qing‐Xiao , Li Ming‐De 
Published: August 2020

AbstractBy utilizing the bipolarity of 1,2‐diphenylphenanthroimidazole (PPI), two types of asymmetrical tripartite triads (PPI‐TPA and PPI‐PCz) were designed with triphenylamine (TPA) and 9‐phenylcarbazole (PCz). These triads are deep‐blue luminescent materials with a high fluorescence quantum yield of nearly 100 %. To trace the photophysical behaviors of these triads, their excited‐state evolution channels and interchromophoric interactions were investigated by ultrafast time‐resolved transient absorption and excited‐state theoretical calculations. The results suggest that the electronic nature, asymmetrical tripartite structure, and electron–hole distance of these triads, as well as solvent polarity, determine the lifetime of intramolecular charge transfer (ICT). Interestingly, PPI‐PCz triads show anti‐Kasha ICT, and the charge‐transfer direction among the triads is adjustable. For the PPI‐TPA triad, the electron is transferred from TPA to PPI, whereas for the PPI‐PCz triad the electron is pushed from PPI to PCz. Exploration of the excited‐state ICT in these triads may pave the way to design better luminescent materials in the future.
Efficient Synthesis of Phosphonamidates through One‐Pot Sequential Reactions of Phosphonites with Iodine and Amines
Authors: Chen Xunwei , Luo Wenjun , Wang Yanlin , Li Zikang , Ma Xiaorui , Peng Ai‐Yun 
Published: August 2020

AbstractA one‐pot sequential strategy to construct phosphonamidates has been developed by generating phosphonites in situ from arylmagnesium bromides and triethyl phosphite followed by treatment with iodine and amines. A variety of phosphonamidates were obtained with good to excellent yields at room temperature from easily available materials.
Understanding the High‐Performance Anode Material of CoC2O4⋅2 H2O Microrods Wrapped by Reduced Graphene Oxide for Lithium‐Ion and Sodium‐Ion Batteries
Authors: Zhang Yingying , Wang Canpei , Dong Yutao , Wei Ruipeng , Zhang Jianmin 
Published: August 2020

AbstractMetal oxalate has become a most promising candidate as an anode material for lithium‐ion and sodium‐ion batteries. However, capacity decrease owing to the volume expansion of the active material during cycling is a problem. Herein, a rod‐like CoC2O4⋅2 H2O/rGO hybrid is fabricated through a novel multistep solvo/hydrothermal strategy. The structural characteristics of the CoC2O4⋅2 H2O microrod wrapped using rGO sheets not only inhibit the volume variation of the hybrid electrode during cycling, but also accelerate the transfer of electrons and ions in the 3 D graphene network, thereby improving the electrochemical properties of CoC2O4⋅2 H2O. The CoC2O4⋅2 H2O/rGO electrode delivers a specific capacity of 1011.5 mA h g−1 at 0.2 A g−1 after 200 cycles for lithium storage, and a high capacity of 221.1 mA h g−1 at 0.2 A g−1 after 100 cycles for sodium storage. Moreover, the full cell CoC2O4⋅2 H2O/rGO//LiCoO2 consisting of the CoC2O4⋅2 H2O/rGO anode and LiCoO2 cathode maintains 138.1 mA h g−1 after 200 cycles at 0.2 A g−1 and has superior long‐cycle stability. In addition, in situ Raman spectroscopy and in situ and ex situ X‐ray diffraction techniques provide a unique opportunity to understand fully the reaction mechanism of CoC2O4⋅2 H2O/rGO. This work also gives a new perspective and solid research basis for the application of metal oxalate materials in high‐performance lithium‐ion and sodium‐ion batteries.