bluuebunny/crossref_metadata_2025_split huggingface dataset:
Investigation ofNRXN1deletions: Clinical and molecular characterization
Authors: Dabell Mindy Preston , Rosenfeld Jill A. , Bader Patricia , Escobar Luis F. , El‐Khechen Dima , Vallee Stephanie E. , Dinulos Mary Beth Palko , Curry Cynthia , Fisher Jamie , Tervo Raymond , Hannibal Mark C. , Siefkas Kiana , Wyatt Philip R. , Hughes Lauren , Smith Rosemarie , Ellingwood Sara , Lacassie Yves , Stroud Tracy , Farrell Sandra A. , Sanchez‐Lara Pedro A. , Randolph Linda M. , Niyazov Dmitriy , Stevens Cathy A. , Schoonveld Cheri , Skidmore David , MacKay Sara , Miles Judith H. , Moodley Manikum , Huillet Adam , Neill Nicholas J. , Ellison Jay W. , Ballif Blake C. , Shaffer Lisa G. 
Published: March 2013

AbstractDeletions at 2p16.3 involving exons ofNRXN1are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonicNRXN1deletions following referral for clinical microarray‐based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonicNRXN1deletions, we report the clinical features of 27 individuals withNRXN1deletions, who represent 23 of these 34 families. The frequency of exonicNRXN1deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%;P = 6.08 × 10−7), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals withNRXN1exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence ofNRXN1deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion inNRXN1. © 2013 Wiley Periodicals, Inc.
A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15‐p16.1 microdeletion syndrome
Authors: Hancarova Miroslava , Simandlova Martina , Drabova Jana , Mannik Katrin , Kurg Ants , Sedlacek Zdenek 
Published: March 2013

AbstractThe 2p15‐p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11‐year‐old female showing clinical features consistent with the syndrome and carrying a de novo 0.45 Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein‐coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non‐coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. © 2013 Wiley Periodicals, Inc.
Synthesis of Pyrroles, Indoles, and Carbazoles through Transition‐Metal‐Catalyzed CH Functionalization
Authors: Yoshikai Naohiko , Wei Ye 
Published: March 2013

AbstractPyrroles, indoles, and carbazoles are among the most important families of nitrogen‐containing heterocycles that occur frequently in natural products, pharmaceuticals, agrochemicals, and other functional molecules. Consequently, improved syntheses of these compounds continue to interest synthetic chemists. This Focus Review describes recent advances in synthetic methods for producing these privileged heterocycles that feature transition‐metal‐catalyzed CH activation approaches. Because of the common five‐membered pyrrole core, some of the CH activation approaches are applicable to two or more of the pyrrole, indole, and carbazole skeletons. The reactions discussed here not only serve as atom‐ and step‐economical alternatives to the existing synthetic methods, but also show the latest developments in organometallic chemistry and homogeneous catalysis.
Response surface predictions of the viscoelastic properties of vapor‐grown carbon nanofiber/vinyl ester nanocomposites
Authors: Nouranian Sasan , Lacy Thomas E. , Toghiani Hossein , Pittman Charles U. , L. DuBien Janice 
Published: March 2013

AbstractA full factorial design of experiments and response surface methodology were used to investigate the effects of formulation, processing, and operating temperature on the viscoelastic properties of vapor‐grown carbon nanofiber (VGCNF)/vinyl ester (VE) nanocomposites. Factors included VGCNF type (pristine, oxidized), use of a dispersing agent (DA) (no, yes), mixing method (ultrasonication, high‐shear mixing, and a combination of both), VGCNF weight fraction (0.00, 0.25, 0.50, 0.75, and 1.00 parts per hundred parts resin (phr)), and temperature (30, 60, 90, and 120°C). Response surface models (RSMs) for predicting storage and loss moduli were developed, which explicitly account for the effect of complex interactions between nanocomposite design factors and operating temperature on resultant composite properties; such influences would be impossible to assess using traditional single‐factor experiments. Nanocomposite storage moduli were maximized over the entire temperature range (∼20% increase over neat VE) by using high‐shear mixing and oxidized VGCNFs with DA or equivalently by employing pristine VGCNFs without DA at ∼0.40 phr of VGCNFs. Ultrasonication yielded the highest loss modulus at ∼0.25 phr of VGCNFs. The RSMs developed in this investigation may be used to design VGCNF‐enhanced VE matrices with optimal storage and loss moduli for automotive structural applications. Moreover, a similar approach may be used to tailor the mechanical, thermal, and electrical properties of nanomaterials over a range of anticipated operating environments. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Characterization and modeling of the moisture diffusion behavior of natural fibers
Authors: Célino Amandine , Fréour Sylvain , Jacquemin Frédéric , Casari Pascal 
Published: March 2013

AbstractNatural fibers have good properties to be used as reinforcement in composite materials. The main issue is their hydrophilic behavior. So we propose here to investigate the diffusion phenomenon in such fibres. First, a brief characterization of four vegetal fibers has been achieved. We show that all fibers have a similar composition and structure despite their different origin. Then, their moisture diffusive behavior was investigated. The samples were submitted to hygro‐thermal aging either in total water immersion at room temperature or in an environmental chamber at 80% relative humidity and 23°C. Various predictive models were used to simulate experimental curves. Results show that all fibers exhibit a similar diffusive behavior in a same environment. In immersion, specimens show anomalous absorption kinetics and Langmuir theory actually describes very well the diffusion kinetics in such conditions, whereas the same fibers follow a Fickian diffusion when they are exposed to vapor during relative humidity aging. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Mechanical properties of silica particle‐filled styrene‐butadiene rubber composites containing polysulfide‐type silane coupling agents: Influence of loading method of silane
Authors: Fukuda Tomoyoshi , Fujii Syuji , Nakamura Yoshinobu , Sasaki Mariko 
Published: March 2013

AbstractPolysulfide‐type silane coupling agents containing two or four sulfur atoms were incorporated into a styrene‐butadiene rubber/silica composite by two different loading methods and the tensile properties were measured. The pretreatment method and the integral blend method were compared. To improve the 200% modulus of the composite, the combination of silane with four sulfur atoms and the pretreatment method was effective. Whereas, the combination of silane with four sulfur atoms and the integral blend method was effective for improving the fracture elongation. The fracture elongation of the integral blend using the silane with four sulfur atoms was higher than that of the untreated silica‐filled composite. The sulfur atoms in the silane should contribute to the crosslinking of rubber in the vulcanization process. The silane with much sulfur atoms strengthens the interface effectively and raises the 200% modulus in the pretreatment method. It is considered that the unreacted silane molecules in the rubber acted as a plasticizer in the integral blend method and the effect was better with four sulfur atoms. The 1H pulse nuclear magnetic resonance spectroscopy was measured for the unvulcanized rubber/silica mixture. The measured relaxation time was found to be in good correlation with the 200% modulus. It was found that the molecular mobility of rubber is lowered by the entanglement with the silane chains on the silica surface at the interfacial region, and it was more effective in the pretreatment method than in the integral blend method. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Multi‐step down‐regulation of the secretory pathway in mitosis: A fresh perspective on protein trafficking
Authors: Yeong Foong May 
Published: March 2013

AbstractThe secretory pathway delivers proteins synthesized at the rough endoplasmic reticulum (RER) to various subcellular locations via the Golgi apparatus. Currently, efforts are focused on understanding the molecular machineries driving individual processes at the RER and Golgi that package, modify and transport proteins. However, studies are routinely performed using non‐dividing cells. This obscures the critical issue of how the secretory pathway is affected by cell division. Indeed, several studies have indicated that protein trafficking is down‐regulated during mitosis. Moreover, the RER and Golgi apparatus exhibit gross reorganization in mitosis. Here I provide a relatively neglected perspective of how the mitotic cyclin‐dependent kinase (CDK1) could regulate various stages of the secretory pathway. I highlight several aspects of the mitotic control of protein trafficking that remain unresolved and suggest that further studies on how the mitotic CDK1 influences the secretory pathway are necessary to obtain a deeper understanding of protein transport.
Oxygen Activation of Apo‐obelin–Coelenterazine Complex
Authors: Eremeeva Elena V. , Natashin Pavel V. , Song Lei , Zhou Yuguang , van Berkel Willem J. H. , Liu Zhi‐Jie , Vysotski Eugene S. 
Published: March 2013

AbstractCa2+‐regulated photoproteins use a noncovalently bound 2‐hydroperoxycoelenterazine ligand to emit light in response to Ca2+ binding. To better understand the mechanism of formation of active photoprotein from apoprotein, coelenterazine and molecular oxygen, we investigated the spectral properties of the anaerobic apo‐obelin–coelenterazine complex and the kinetics of its conversion into active photoprotein after exposure to air. Our studies suggest that coelenterazine bound within the anaerobic complex might be a mixture of N7‐protonated and C2(−) anionic forms, and that oxygen shifts the equilibrium in favor of the C2(−) anion as a result of peroxy anion formation. Proton removal from N7 and further protonation of peroxy anion and the resulting formation of 2‐hydroperoxycoelenterazine in obelin might occur with the assistance of His175. It is proposed that this conserved His residue might play a key role both in formation of active photoprotein and in Ca2+‐triggering of the bioluminescence reaction.
Reply to A Computational Evaluation of the Evidence for the Synthesis of 1,3‐Dimethylcyclobutadiene in Solid State and Aqueous Solution—Beyond the Experimental Reality
Authors: Legrand Yves‐Marie , Dumitrescu Dan , Gilles Arnaud , Petit Eddy , van der Lee Arie , Barboiu Mihail 
Published: March 2013

AbstractFollowing earlier reports on the photochemical synthesis of 1,3‐dimethylcyclobutadiene8, 10 in a protective host matrix, theoretical calculations for the formation of that adduct have been recently performed by Rzepa.13 The author formulated criticisms based mainly on density functional theory calculations of 1H NMR spectra. According to Rzepa the calculated spectra do not correspond with our measured spectra, which leads him to the conclusion that our interpretation is wrong, and that mainly cyclobutadiene has not been stabilized or even synthesized; we believe, however, that the initial model that Rzepa used for his calculations does not correspond to chemical reality or is at the very least a crude simplification of it, which implies that his calculations cannot match, in every point, our experimental spectra. Rzepa′s simplified models might be ‘reasonable’ from the theoretical point of view; however, in the case of assessment in the solid state, the theoretical setup does not force the system to preserve the confined stabilizing space defined by the crystalline matrix for encapsulated hosts in the solid state. Inversely, in the case of solution modeling, the theoretical setup is too rigid to properly assess the complex equilibria occurring in solution and to accurately determine the NMR spectra of exchanging species in solution. The inconsistency between our experimental results and the results of the theoretical models proposed by Rzepa is such that his conclusions are considered to be too far from experimental reality. Accurate modeling taking in account “reasonable” experimental details would be a worthwhile endeavor.
In Situ Synthesis and Nonvolatile Rewritable‐Memory Effect of Polyaniline‐Functionalized Graphene Oxide
Authors: Zhang Bin , Chen Yu , Ren Yujie , Xu Li‐Qun , Liu Gang , Kang En‐Tang , Wang Cheng , Zhu Chun‐Xiang , Neoh Koon‐Gee 
Published: March 2013

AbstractA new polyaniline (PANI)‐functionalized graphene oxide (GO‐PANI) was prepared by using an in situ oxidative graft polymerization of aniline on the surface of GO. Its highest occupied molecular orbital (HOMO), lowest unoccupied molecular orbital (LUMO), ionization potential (IP), and electron affinity (EA) values experimentally estimated by the onset of the redox potentials were −5.33, −3.57, 5.59, and 3.83 eV, respectively. A bistable electrical‐switching effect was observed in electronic device with the GO‐PANI film sandwiched between the indium tin oxide (ITO) and Al electrodes. This device exhibited two accessible conductivity states, that is, the low‐conductivity (OFF) state and the high‐conductivity (ON) state, and can be switched to the ON state under a negative electrical sweep, and can also be reset to the initial OFF state by a reverse (positive) electrical sweep. The ON state is nonvolatile and can withstand a constant voltage stress of −1 V for 3 h and 108 read cycles at −1 V under ambient conditions. The nonvolatile nature of the ON state and the ability to write, read, and erase the electrical states, fulfill the functionality of a rewritable memory. An ON/OFF current ratio of more than 104 at −1 V achieved in this memory device is high enough to promise a low misreading rate through the precise control of the ON and OFF states. The mechanism associated with the memory effects was elucidated from molecular simulation results.
Annelated Pyridines as Highly Nucleophilic and Lewis Basic Catalysts for Acylation Reactions
Authors: Tandon Raman , Unzner Teresa , Nigst Tobias A. , De Rycke Nicolas , Mayer Peter , Wendt Bernd , David Olivier R. P. , Zipse Hendrik 
Published: March 2013

AbstractNew heterocyclic derivatives of 9‐azajulolidine have been synthesized and characterized with respect to their nucleophilicity and Lewis basicity. The Lewis basicity of these bases as quantified through their theoretically calculated methyl‐cation affinities correlate well with the experimentally measured reaction rates for addition to benzhydryl cations. All newly synthesized pyridines show exceptional catalytic activities in benchmark acylation reactions, which correlate only poorly with Lewis basicity or nucleophilicity parameters. A combination of Lewis basicity with charge and geometric parameters in the framework of a three‐component quantitative structure–activity relationship (QSAR) model is, however, highly predictive.
Targeted Tumor Computed Tomography Imaging Using Low‐Generation Dendrimer‐Stabilized Gold Nanoparticles
Authors: Liu Hui , Xu Yanhong , Wen Shihui , Chen Qian , Zheng Linfeng , Shen Mingwu , Zhao Jinglong , Zhang Guixiang , Shi Xiangyang 
Published: March 2013

AbstractWe report a facile approach to fabricating low‐generation poly(amidoamine) (PAMAM) dendrimer‐stabilized gold nanoparticles (Au DSNPs) functionalized with folic acid (FA) for in vitro and in vivo targeted computed tomography (CT) imaging of cancer cells. In this study, amine‐terminated generation 2 PAMAM dendrimers were employed as stabilizers to form Au DSNPs without additional reducing agents. The formed Au DSNPs with an Au core size of 5.5 nm were covalently modified with the targeting ligand FA, followed by acetylation of the remaining dendrimer terminal amines to endow the particles with targeting specificity and improved biocompatibility. Our characterization data show that the formed FA‐modified Au DSNPs are stable at different pH values (5—8) and temperatures (4–50 °C), as well as in different aqueous media. MTT assay data along with cell morphology observations reveal that the FA‐modified Au DSNPs are noncytotoxic in the particle concentration range of 0–3000 nM. X‐ray attenuation coefficient measurements show that the CT value of FA‐modified Au DSNPs is much higher than that of Omnipaque (a clinically used CT contrast agent) at the same concentration of the radiodense elements (Au or iodine). Importantly, the FA‐modified Au DSNPs are able to specifically target a model cancer cell line (KB cells, a human epithelial carcinoma cell line) over‐expressing FA receptors and they enable targeted CT imaging of the cancer cells in vitro and the xenografted tumor model in vivo after intravenous administration of the particles. With the simple synthesis approach, easy modification, good cytocompatibility, and high X‐ray attenuation coefficient, the FA‐modified low‐generation Au DSNPs could be used as promising contrast agents for targeted CT imaging of different tumors over‐expressing FA receptors.
ChemInform Abstract: Hydrothermal Chemistry, Structures, and Luminescence Studies of Alkali Hafnium Fluorides.
Authors: Underwood Christopher C. , McMillen Colin D. , Chen Hongyu , Anker Jeffrey N. , Kolis Joseph W. 
Published: March 2013

AbstractThe alkali hafnium fluorides Li2HfF6 (I), Na5Hf2F13 (II), K2Hf3OF12 (III), K3HfOF5 (IV), and (NH4)3HfOF5 (V) are hydrothermally prepared from aqueous solutions of HfF4, LiF, NaF, KF, KHF2, RbF, or CsF (sealed Ag ampule, autoclave, 400—600 °C, several days).
ChemInform Abstract: [Ni(dien)2]3 [Ge3Sb8S21]·0.5H2O: A New 2‐D Layered Thiogermanate—Thioantimonate with Metal Complexes as Template Ions.
Authors: Zhou Jian , Liu Xing , Liang Guoming , Liang Weijiang , Hu Feilong , Zhu Ligang 
Published: March 2013

AbstractThe title compound (dien: diethylenetriamine) is solvothermally synthesized from a mixture of GeO2, Sb, S, Ni, and dien (sealed Pyrex tube, 170 °C, 10 d, 25% yield).
ChemInform Abstract: Microwave‐Assisted Synthesis, Microstructure, and Physical Properties of Rare‐Earth Chromites.
Authors: Prado‐Gonjal Jesus , Schmidt Rainer , Romero Juan‐Jose , Avila David , Amador Ulises , Moran Emilio 
Published: March 2013

AbstractThe full rare earth chromite series LnCrO3 and the isostructural compound YCrO3 are prepared from mixtures of appropriate amounts of Cr(NO3)3 and Ln(NO3)3 with amorphous carbon as microwave absorber (porcelain crucible, microwave irradiation for 10 min, followed by heating at 500 and 800 °C for 2 h each, and sintering at 1300 °C for 15 h).
ChemInform Abstract: Time‐Resolved Assembly of Chiral Uranyl Peroxo Cage Clusters Containing Belts of Polyhedra.
Authors: Qiu Jie , Nguyen Kevin , Jouffret Laurent , Szymanowski Jennifer E. S. , Burns Peter C. 
Published: March 2013

AbstractThe reaction of UO2(NO3)2, H3PO3, K2(EDTA), H2O2, and Et4NOH in aqueous solution (room temperature, pH 6, 7 d) affords crystals of K14.73 [(UO2)22(O2)15 (HPO3)20(H2O)10] ·38H2O (I) and K12 [(UO2)14(O2)10 (HPO3)12(H2O)6] ·22H2O (II) in yields of 10 and 35%, respectively.
ChemInform Abstract: Ionothermal Synthesis of Four New Nickel Thiophosphate Anions: [Ni(P2S8)2]2‐, [Ni(P3S9)(P2S8)]3‐, [Ni(P3S9)2]4‐, and [(NiP3S8)4(PS4)]7‐.
Authors: Cody Jason A. , Finch Kenneth B. , Reynders Gilbert J. III , Alexander Grant C. B. , Lim Hyung G. , Naether Christian , Bensch Wolfgang 
Published: March 2013

AbstractCompounds (IV)—(VII) are ionothermally prepared from the elements and their structures are determined by single crystal XRD.
ChemInform Abstract: Iminium Ion Catalysis: The Enantioselective Friedel—Crafts Alkylation—Acetalization Cascade of Naphthols with α,β‐Unsaturated Cyclic Ketones.
Authors: Paradisi Enrico , Righi Paolo , Mazzanti Andrea , Ranieri Silvia , Bencivenni Giorgio 
Published: March 2013

AbstractA combination of a cinchona alkaloid derived amine and 5‐nitrosalicylic acid is an efficient catalyst system for the enantioselective synthesis of polycyclic derivatives (III), (VII), (VIII), and (X) by a Friedel—Crafts alkylation—acetalization of naphtols (I) and (VI) with cyclohexenones and cycloheptenone.
ChemInform Abstract: A Unique Ruthenium Carbyne Complex: A Highly Thermo‐Endurable Catalyst for Olefin Metathesis.
Authors: Shao Mingbo , Zheng Lu , Qiao Weixia , Wang Jingjing , Wang Jianhui 
Published: March 2013

AbstractThis is the first ruthenium‐carbyne catalyst capable of catalyzing ring‐closing metathesis reactions.
ChemInform Abstract: Ruthenium‐ and Rhodium‐Catalyzed Cross‐Coupling Reaction of Acrylamides with Alkenes: Efficient Access to (Z,E)‐Dienamides.
Authors: Zhang Jian , Loh Teck‐Peng 
Published: March 2013

AbstractThe Rh‐ or Ru‐catalyzed oxidative cross‐coupling of acrylamides with alkenes affords (Z,E)‐dienamides as main products with high selectivity in most cases (20 examples for Rh‐catalyzed reaction, 25 examples for Ru‐catalyzed cross‐coupling).
ChemInform Abstract: Gold‐Catalyzed Functionalization of Unactivated C(sp3)—H Bonds by Hydride Transfer Facilitated by Alkynylspirocyclopropanes.
Authors: Barluenga Jose , Sigueiro Rita , Vicente Ruben , Ballesteros Alfredo , Tomas Miguel , Rodriguez Miguel A. 
Published: March 2013

AbstractThe 1,5‐hydride transfer of alkynylcyclopropanes bearing a spiran core is investigated under different conditions: pentalene derivatives or bicyclic systems are formed.
ChemInform Abstract: Photo‐fluorodecarboxylation of 2‐Aryloxy and 2‐Aryl Carboxylic Acids.
Authors: Leung Joe C. T. , Chatalova‐Sazepin Claire , West Julian G. , Rueda‐Becerril Montserrat , Paquin Jean‐Francois , Sammis Glenn M. 
Published: March 2013

AbstractPhotolysis of the title compounds in the presence of Selectfluor results in decarboxylative fluorination to afford fluoromethyl ethers and benzyl fluorides.
ChemInform Abstract: The ortho‐ and meta‐Magnesiation of Funtionalized Anilines and Amino‐Substituted Pyridines and Pyrazines at Room Temperature.
Authors: Monzon Gabriel , Tirotta Ilaria , Knochel Paul 
Published: March 2013

AbstractThe directed magnesiation of a broad spectrum of nitrogen substrates is studied to afford a variety of functionalized derivatives after quenching with electrophiles.
ChemInform Abstract: A Novel Regioselective Method for Aminostilbene Preparation — The Role of Sodium Azide.
Authors: Janowska Katarzyna , Matczak Rafal , Zakrzewski Jacek , Krawczyk Hanna 
Published: March 2013

AbstractSodium azide reacts regiospecifically with the ortho‐NO2 group of 2,4‐dinitrostilbenes (I) to provide the 2‐amino‐4‐nitrostilbenes (II) as the sole products in good yields.