bluuebunny/crossref_metadata_2025_split huggingface dataset:
GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
Authors: Lemke Johannes R. , Hendrickx Rik , Geider Kirsten , Laube Bodo , Schwake Michael , Harvey Robert J. , James Victoria M. , Pepler Alex , Steiner Isabelle , Hörtnagel Konstanze , Neidhardt John , Ruf Susanne , Wolff Markus , Bartholdi Deborah , Caraballo Roberto , Platzer Konrad , Suls Arvid , De Jonghe Peter , Biskup Saskia , Weckhuysen Sarah 
Published: November 2013

ObjectiveTo identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations.MethodsUsing a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in Xenopus laevis oocytes and screened a follow‐up cohort.ResultsWe revealed de novo mutations in GRIN2B encoding the NR2B subunit of the N‐methyl‐D‐aspartate (NMDA) receptor in 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and focal epilepsy. The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate‐binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel‐forming re‐entrant loop (p.Asn615Ile, p.Val618Gly). Subsequent screening of 47 patients with unexplained infantile spasms did not reveal additional de novo mutations, but detected a carrier of a novel inherited GRIN2B splice site variant in close proximity (c.2011‐5_2011‐4delTC). Mutations p.Asn615Ile and p.Val618Gly cause a significantly reduced Mg2+ block and higher Ca2+ permeability, leading to a dramatically increased Ca2+ influx, whereas p.Arg540His caused less severe disturbance of channel function, corresponding to the milder patient phenotype.InterpretationWe identified GRIN2B gain‐of‐function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. Severely disturbed channel function corresponded to severe clinical phenotypes, underlining the important role of facilitated NMDA receptor signaling in epileptogenesis. ANN NEUROL 2014;75:147–154
Die katalytische asymmetrische α‐Benzylierung von Aldehyden
Authors: List Benjamin , Čorić Ilija , Grygorenko Oleksandr O. , Kaib Philip S. J. , Komarov Igor , Lee Anna , Leutzsch Markus , Chandra Pan Subhas , Tymtsunik Andrey V. , van Gemmeren Manuel 
Published: November 2013

AbstractDie erste aminokatalytische α‐Alkylierung α‐verzweigter Aldehyde mit Benzylbromiden als Alkylierungsmittel wurde entwickelt. Unter Verwendung eines sterisch anspruchsvollen, von Prolin abgeleiteten Katalysators reagieren racemische α‐verzweigte Aldehyde mit Alkylierungsmitteln in einem DYKAT‐Prozess und ergeben mit guten Ausbeuten und hohen Enantioselektivitäten α‐alkylierte Aldehyde mit quartären Stereozentren.
Visible‐Light‐Mediated Decarboxylation/Oxidative Amidation of α‐Keto Acids with Amines under Mild Reaction Conditions Using O2
Authors: Liu Jie , Liu Qiang , Yi Hong , Qin Chu , Bai Ruopeng , Qi Xiaotian , Lan Yu , Lei Aiwen 
Published: November 2013

AbstractPhotochemistry has ushered in a new era in the development of chemistry, and photoredox catalysis has become a hot topic, especially over the last five years, with the combination of visible‐light photoredox catalysis and radical reactions. A novel, simple, and efficient radical oxidative decarboxylative coupling with the assistant of the photocatalyst [Ru(phen)3]Cl2 is described. Various functional groups are well‐tolerated in this reaction and thus provides a new approach to developing advanced methods for aerobic oxidative decarboxylation. The preliminary mechanistic studies revealed that: 1) an SET process between [Ru(phen)3]2+* and aniline play an important role; 2) O2 activation might be the rate‐determining step; and 3) the decarboxylation step is an irreversible and fast process.
An Effective Pd–Ni2P/C Anode Catalyst for Direct Formic Acid Fuel Cells
Authors: Chang Jinfa , Feng Ligang , Liu Changpeng , Xing Wei , Hu Xile 
Published: November 2013

AbstractThe direct formic acid fuel cell is an emerging energy conversion device for which palladium is considered as the state‐of‐the‐art anode catalyst. In this communication, we show that the activity and stability of palladium for formic acid oxidation can be significantly enhanced using nickel phosphide (Ni2P) nanoparticles as a cocatalyst. X‐ray photoelectron spectroscopy (XPS) reveals a strong electronic interaction between Ni2P and Pd. A direct formic acid fuel cell incorporating the best Pd–Ni2P anode catalyst exhibits a power density of 550 mW cm−2, which is 3.5 times of that of an analogous device using a commercial Pd anode catalyst.
Catalyst‐Free Dehydrative α‐Alkylation of Ketones with Alcohols: Green and Selective Autocatalyzed Synthesis of Alcohols and Ketones
Authors: Xu Qing , Chen Jianhui , Tian Haiwen , Yuan Xueqin , Li Shuangyan , Zhou Chongkuan , Liu Jianping 
Published: November 2013

AbstractDirect dehydrative α‐alkylation reactions of ketones with alcohols are now realized under simple, practical, and green conditions without using external catalysts. These catalyst‐free autocatalyzed alkylation methods can efficiently afford useful alkylated ketone or alcohol products in a one‐pot manner and on a large scale by CC bond formation of the in situ generated intermediates with subsequent controllable and selective Meerwein–Pondorf–Verley–Oppenauer‐type redox processes.
The Catalytic Asymmetric α‐Benzylation of Aldehydes
Authors: List Benjamin , Čorić Ilija , Grygorenko Oleksandr O. , Kaib Philip S. J. , Komarov Igor , Lee Anna , Leutzsch Markus , Chandra Pan Subhas , Tymtsunik Andrey V. , van Gemmeren Manuel 
Published: November 2013

AbstractThe first aminocatalyzed α‐alkylation of α‐branched aldehydes with benzyl bromides as alkylating agents has been developed. Using a sterically demanding proline derived catalyst, racemic α‐branched aldehydes are reacted with alkylating agents in a DYKAT process to give the corresponding α‐alkylated aldehydes with quaternary stereogenic centers in good yields and high enantioselectivities.
Exploiting Protein Symmetry To Design Light‐Controllable Enzyme Inhibitors
Authors: Reisinger Bernd , Kuzmanovic Natascha , Löffler Patrick , Merkl Rainer , König Burkhard , Sterner Reinhard 
Published: November 2013

AbstractThe activity of the metabolic branch‐point enzyme PriA from Mycobacterium tuberculosis (mtPriA) can be controlled reversibly by light. Two‐pronged inhibitors based on the dithienylethene scaffold were designed utilizing mtPriA’s natural rotational symmetry. Switching from the flexible, ring‐open to the rigid, ring‐closed isomer reduces inhibition activity by one order of magnitude.
Controlling the Shape of Evaporating Droplets by Ionic Strength: Formation of Highly Anisometric Silica Supraparticles
Authors: Sperling Marcel , Velev Orlin D. , Gradzielski Michael 
Published: November 2013

AbstractAnisometric silica supraparticles are produced by a simple process of evaporation of sessile droplets containing fumed silica deposited on a superhydrophobic substrate. The shape of the supraparticles is directly controlled by the salt (NaCl) concentration, becoming anisometric beyond a threshold concentration, as quantified by light microscopy. This process is easily extended to supraparticles containing further functional colloidal components.
Synthesis of Segmented Silica Rods by Regulation of the Growth Temperature
Authors: Datskos Panos , Sharma Jaswinder 
Published: November 2013

AbstractThe control of the diameter of colloidal structures is of fundamental interest and practical importance. We synthesized segmented silica rods by regulating the reaction temperature while the rods were growing. With higher growth temperatures, the segment diameter became smaller. Longer incubation times gave longer segments at the same temperature. Similarly, high temperature for the same incubation time gave longer segments. It appears that the correlation between temperature and diameter results from the relation between temperature and the size of the emulsion droplet, that is, the higher the temperature, the smaller the emulsion droplet.
Stereospecific Cyclic Poly(methyl methacrylate) and Its Topology‐Guided Hierarchically Controlled Supramolecular Assemblies
Authors: Ren Jing Ming , Satoh Kotaro , Goh Tor Kit , Blencowe Anton , Nagai Kanji , Ishitake Kenji , Christofferson Andrew Joseph , Yiapanis George , Yarovsky Irene , Kamigaito Masami , Qiao Greg Guanghua 
Published: November 2013

AbstractIn this study, the stereocomplexation between a novel stereospecific cyclic vinyl polymer, that is, cyclic syndiotactic poly(methyl methacrylate) (st‐PMMA), with the complementary linear isotactic (it‐) PMMA was investigated. Surprising new insight into the effects of the topology (i.e., end groups), size, and tacticity of the assembling components on stereocomplex formation was obtained. Characterization of the stereocomplexes revealed that the self‐assembly of cyclic st‐PMMAs and linear it‐PMMAs resulted in the formation of an unprecedented “polypseudorotaxane‐type” supramolecular assembly. This stereocomplex exhibited remarkably different physical properties as compared to the conventional PMMA triple‐helix stereocomplex as a result of the restricted topology imposed by the cyclic st‐PMMA assembling component.
Copper‐64‐Alloyed Gold Nanoparticles for Cancer Imaging: Improved Radiolabel Stability and Diagnostic Accuracy
Authors: Zhao Yongfeng , Sultan Deborah , Detering Lisa , Cho Sangho , Sun Guorong , Pierce Richard , Wooley Karen L. , Liu Yongjian 
Published: November 2013

AbstractGold nanoparticles, especially positron‐emitter‐ labeled gold nanostructures, have gained steadily increasing attention in biomedical applications. Of the radionuclides used for nanoparticle positron emission tomography imaging, radiometals such as 64Cu have been widely employed. Currently, radiolabeling through macrocyclic chelators is the most commonly used strategy. However, the radiolabel stability may be a limiting factor for further translational research. We report the integration of 64Cu into the structures of gold nanoparticles. With this approach, the specific radioactivity of the alloyed gold nanoparticles could be freely and precisely controlled by the addition of the precursor 64CuCl2 to afford sensitive detection. The direct incorporation of 64Cu into the lattice of the gold nanoparticle structure ensured the radiolabel stability for accurate localization in vivo. The superior pharmacokinetic and positron emission tomography imaging capabilities demonstrate high passive tumor targeting and contrast ratios in a mouse breast cancer model, as well as the great potential of this unique alloyed nanostructure for preclinical and translational imaging.
Multi‐Colored Fibers by Self‐Assembly of DNA, Histone Proteins, and Cationic Conjugated Polymers
Authors: Wang Fengyan , Liu Zhang , Wang Bing , Feng Liheng , Liu Libing , Lv Fengting , Wang Yilin , Wang Shu 
Published: November 2013

AbstractThe development of biomolecular fiber materials with imaging ability has become more and more useful for biological applications. In this work, cationic conjugated polymers (CCPs) were used to construct inherent fluorescent microfibers with natural biological macromolecules (DNA and histone proteins) through the interfacial polyelectrolyte complexation (IPC) procedure. Isothermal titration microcalorimetry results show that the driving forces for fiber formation are electrostatic and hydrophobic interactions, as well as the release of counterions and bound water molecules. Color‐encoded IPC fibers were also obtained based on the co‐assembly of DNA, histone proteins, and blue‐, green‐, or red‐ (RGB‐) emissive CCPs by tuning the fluorescence resonance energy‐transfer among the CCPs at a single excitation wavelength. The fibers could encapsulate GFP‐coded Escherichia coli BL21, and the expression of GFP proteins was successfully regulated by the external environment of the fibers. These multi‐colored fibers show a great potential in biomedical applications, such as biosensor, delivery, and release of biological molecules and tissue engineering.
Preparation and properties of polyamide‐6‐based thermoplastic laminate composites by a novel in‐mold polymerization technique
Authors: Dencheva Nadya , Sampaio Ana S. , Oliveira Filipa M. , Pouzada António S. , Brito Antonio M. , Denchev Zlatan 
Published: November 2013

ABSTRACTIn this work, a method for preparation of polyamide‐6 (PA6) based laminates reinforced by glass fiber‐ (GFL) or polyamide‐66 (PA66) textile structures (PL) via reactive injection molding is disclosed. It is based on in‐mold anionic polymerization of ε‐caprolactam carried out at 165°C in the presence of the respective reinforcements performed in newly developed prototype equipment whose design concept and operation are described. Both composite types were produced for reaction times of 20 min, with conversion degrees of 97–99%. Initial mechanical tests in tension of GFL samples displayed almost twofold increase of the Young's modulus and stress at break values when compared with the neat anionic PA6. The improvement was proportional to the volume fraction Vf of glass fiber fabric that was varied in the 0.16–0.25 range. A 300% growth of the impact strength was registered in PL composites with Vf of PA66 textile of 0.1. Removing the surface finish of the latter was found to be a factor for improving the adhesion at the matrix–fiber interface. The mechanical behavior of GFL and PL composites was discussed in conjunction with the morphology of the samples studied by optical and electron microscopy and the matrix crystalline structure as revealed by synchrotron X‐ray diffraction. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40083.
PET as a support material for TiO2 in advanced oxidation processes
Authors: de Barros Allen Lopes , Domingos Antonio Anailton Queiroz , Fechine Pierre Basílio Almeida , de Keukeleire Denis , do Nascimento Ronaldo Ferreira 
Published: November 2013

ABSTRACTThe use of polyethylene terephthalate (PET) as a support material for TiO2 films in advanced oxidation processes (AOPs) for water treatment was investigated. A green, low‐cost immobilization procedure was developed and the amount of deposited photocatalyst ranged from 0.036 to 0.202 mg per cm2 PET. Photocatalytic activity of the films was evidenced by degrading paracetamol solutions under UV radiation. The highest kinetic constants were observed for at least 0.09 mg TiO2 per cm2 PET. Scan electron microscopy (SEM) and energy‐dispersive X‐ray (EDX) analyses indicated 0.15 mg TiO2 per cm2 PET as enough to provide complete covering of the PET support. Characterization analyses were also performed with a film after 30 h of use in a UV/TiO2/O3 reactor. According to SEM analyses, the photocatalyst was not detached from the PET support, while EDX and gravimetric data indicated the possibility of the TiO2 to have been contaminated by compounds present in the solution during the treatment. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40175.
Synthesis of Size‐Controlled Ag@Co@Ni/Graphene Core–Shell Nanoparticles for the Catalytic Hydrolysis of Ammonia Borane
Authors: Qiu Fangyuan , Li Li , Liu Guang , Xu Changchang , An Cuihua , Xu Yanan , Wang Ying , Huang Yanan , Chen Chengcheng , Wang Yijing , Jiao Lifang , Yuan Huatang 
Published: November 2013

AbstractSize‐controlled Ag0.04@Co0.48@Ni0.48 core–shell nanoparticles (NPs) were synthesized by employing graphene (rGO) with different reduction degrees as supports. The number of CO and CO functional groups on the surface of rGO might play a major role in controlling the particle size. The strong steric‐hindrance effect of CO resulted in the growth of large particles, whereas CO contributed to the formation of small particles. The particle size of Ag0.04@Co0.48@Ni0.48 NPs supported on rGO with different reduction degrees decreased as the number of CO functional groups decreased. The decrease in the particle size probably led to the increase in the catalytic activity towards the hydrolysis of ammonia borane (AB). The enhanced catalytic activity largely stemmed from the increasing active sites on the surface of catalysts owing to the decreasing particle size.
Photocontrolled Intramolecular Charge/Energy Transfer and Fluorescence Switching of Tetraphenylethene‐Dithienylethene‐Perylenemonoimide Triad with Donor–Bridge–Acceptor Structure
Authors: Li Chong , Yan Hui , Zhang Guo‐Feng , Gong Wen‐Liang , Chen Tao , Hu Rui , Aldred Matthew P. , Zhu Ming‐Qiang 
Published: November 2013

AbstractPhotochromic 1,2‐dithienylethene (DTE) derivatives with a high thermal stability and fatigue resistance are appealing for optical switching of fluorescence. Here, we introduce a donor–photochromic bridge–acceptor tetraphenylethene‐dithienylethene‐perylenemonoimide (TPE‐DTE‐PMI) triad, in which TPE acts as the electron donor, PMI as the electron acceptor, and DTE as the photochromic bridge. In this system, the localized and intramolecular charge transfer emission of TPE‐DTE‐PMI with various Stokes shifts have been observed due to the photoinduced intramolecular charge transfer in different solvents. Upon UV irradiation, the fluorescence quenching resulting from photochromic fluorescence resonance energy transfer in TPE‐DTE‐PMI has been demonstrated in solution and in solid films. The fluorescence on/off switching ratio in polymethylacrylate film exceeds 100, a value much higher than in polymethylmethacrylate film, thus indicating that the fluorescence switching is dependent on matrices.
Dinuclear Zinc Hydride Supported by an Anionic Bis(N‐Heterocyclic Carbene) Ligand
Authors: Rit Arnab , Spaniol Thomas P. , Okuda Jun 
Published: November 2013

AbstractMethylene‐linked bis(N,N′‐di‐tert‐butylimidazol‐2‐ylidene) 1 reacted with diethylzinc to give dinuclear zinc ethyl compound 2, which contains a formally anionic bis(carbene) ligand as a result of deprotonation of the methylene bridge. The reaction of 2 with PhSiH3 gave the phenylsilyl compound 3. The zinc hydride 4 was obtained by the reaction of 2 with LiAlH4 or Ph3SiOH followed by treatment with PhSiH3. X‐ray diffraction studies show that compounds 2, 3, and 4 all have a similar dimeric structure with D2h symmetry. The reaction of hydride 4 with carbon dioxide and N,N′‐diisopropylcarbodiimide gave formato (5) and formamidinato (7) derivatives as a result of the insertion of the heterocumulene into both ZnH bonds. Reaction with Ph2CO gave the diphenylmethoxy compound 6. Hydride 4 shows catalytic activity in the hydrosilylation of 1,1‐diphenylethylene and methanolysis of silanes.
Did the fire ant supergene evolve selfishly or socially?
Authors: Huang Yu‐Ching , Wang John 
Published: November 2013

The genetic basis for animal social organization is poorly understood. Fire ants provide one of the rare cases where variation in social organization has been demonstrated to be under genetic control, which amazingly, segregates as a single Mendelian locus. A recent genetic, genomic, and cytological analysis revealed that this locus actually consists of over 600 genes locked together in a supergene that possesses many characteristics of sex chromosomes. The fire ant social supergene also behaves selfishly, and an interesting evolutionary question is whether the genes incorporated first into the social supergene were those for social adaptation, selfish genetic drive, or something else. In depth, functional molecular genetic analysis in fire ants and comparative genomics in other closely related socially polymorphic species will be required to resolve this question.Editor's suggested further reading in BioEssays Social supergenes of superorganisms: Do supergenes play important roles in social evolution? Abstract
Effect of the introduction of an emergency general surgery service on outcomes from appendicectomy
Authors: Suen K , Hayes I P , Thomson B N J , Shedda S 
Published: November 2013

Abstract

Background
Appendicectomy is a common general surgical emergency procedure and may be used as a surrogate marker to evaluate quality in surgical management. The aim of this study was to assess the outcomes of appendicectomy before and after the introduction of a consultant-led emergency general surgery (EGS) service at a large metropolitan tertiary referral centre.

Methods
A retrospective historical control study was performed that included all adult patients undergoing appendicectomy during two 18-month periods, before and after the introduction of the EGS service. Data collected included patient demographics, use of radiological investigations, time to surgery, length of hospital stay and histopathology findings. Outcome measures were time to surgery, hospital length of stay, use of radiological investigations, negative appendicectomy rate and perforation rate.

Results
A total of 675 patients were identified of whom 276 had an appendicectomy before the EGS service was introduced (2008–2009) and 399 after its introduction (2011–2012). The EGS service resulted in an increase in time to surgery (15 versus 18 h; P &lt; 0·001) with no increase in length of hospital stay (3 days for both periods; P = 0·424). An increase in the rate of appendicectomies performed within office hours was seen (54·3 versus 64·4 per cent; P &lt; 0·001), with no significant increase in negative appendicectomy (13·0 versus 15·8 per cent; P = 0·322) or perforation (8·3 versus 5·5 per cent; P = 0·149) rates. The use of preoperative computed tomography reduced from 38·4 to 26·6 per cent (P = 0·001).

Conclusion
The introduction of a consultant-led EGS service resulted in a decrease in the use of computed tomography and a greater proportion of appendicectomies performed within office hours, with no increase in length of stay. Overall negative appendicectomy and perforation rates did not change.