bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical phenotypes in titinopathies explained by second titin mutations
Authors: Evilä Anni , Vihola Anna , Sarparanta Jaakko , Raheem Olayinka , Palmio Johanna , Sandell Satu , Eymard Bruno , Illa Isabel , Rojas‐Garcia Ricard , Hankiewicz Karolina , Negrão Luis , Löppönen Tuija , Nokelainen Pekka , Kärppä Mikko , Penttilä Sini , Screen Mark , Suominen Tiina , Richard Isabelle , Hackman Peter , Udd Bjarne 
Published: January 2014

ObjectiveSeveral patients with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy (TMD) have more complex, severe, or unusual phenotypes. This study aimed to clarify the molecular cause of the variant phenotypes in 8 patients of 7 European families.MethodsClinical, histopathological, and muscle imaging data of patients and family members were reanalyzed. The titin protein was analyzed by Western blotting and TTN gene by reverse transcription polymerase chain reaction (RT‐PCR) and Sanger sequencing.ResultsWestern blotting showed more pronounced C‐terminal titin abnormality than expected for heterozygous probands, suggesting the existence of additional TTN mutations. RT‐PCR indicated unequal mRNA expression of the TTN alleles in biopsies of 6 patients, 3 with an limb‐girdle muscular dystrophy type 2J (LGMD2J) phenotype. Novel frameshift mutations were identified in 5 patients. A novel A‐band titin mutation, c.92167C>T (p.P30723S), was found in 1 patient, and 1 Portuguese patient with a severe TMD phenotype proved to be homozygous for the previously reported Iberian TMD mutation.InterpretationThe unequal expression levels of TTN transcripts in 5 probands suggested severely reduced expression of the frameshift mutated allele, probably through nonsense‐mediated decay, explaining the more severe phenotypes. The Iberian TMD mutation may cause a more severe TMD rather than LGMD2J when homozygous. The Finnish patient compound heterozygous for the FINmaj TMD mutation and the novel A‐band titin missense mutation showed a phenotype completely different from previously described titinopathies. Our results further expand the complexity of muscular dystrophies caused by TTN mutations and suggest that the coexistence of second mutations may constitute a more common general mechanism explaining phenotype variability. Ann Neurol 2014;75:230–240
Mechanical properties of acrylonitrile–butadiene–styrene copolymer/poly(l‐lactic acid) blends and their composites
Authors: Choe Ik‐Je , Lee Jun Hye , Yu Ji Hoon , Yoon Jin‐San 
Published: January 2014

ABSTRACTAs the material properties of acrylonitrile–butadiene–styrene copolymer (ABS) have an excessively wide margin for applications in automobile console boxes, ABS partly replaced with poly(l‐lactic acid) (PLA) may be used for the same purpose with improved ecofriendliness if the corresponding deterioration of the material properties is acceptable through the choice of appropriate additives. ABS composites with 30 wt % renewable components (PLA and cellulose pulp) were prepared by melt compounding, and the material properties were examined as a function of the additive content. The changes in the mechanical properties of the ABS/PLA blends were examined after the addition of cellulose pulp and two clays [Cloisite 25A (C25A) and sodium montmorillonite] as well as these two clays treated with bis(3‐triethoxysilylpropyl)tetrasulfide (TESPT). The heat distortion temperatures of the composites were measured as a function of the content of the TESPT‐treated C25A. © 2014 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40329.
The Ancient Roman Aqueduct of Karales (Cagliari, Sardinia, Italy): Applicability of Geophysics Methods to Finding the Underground Remains
Authors: Trogu Antonio , Ranieri Gaetano , Calcina Sergio , Piroddi Luca 
Published: January 2014

ABSTRACTDetection of the buried antique Roman aqueduct, which supplied fresh water to the ancient town of Karales (Cagliari, Italy), is not a trivial problem because of the small size of its cross section, its depth (about 10 m), and of the presence of shallow conductive layers. In order to determine the best geophysical method to use in the research of the conduit, a test was carried out over a well‐known section of the underground aqueduct in its extra‐urban part. Taking into account the geological features of the site, time‐domain electromagnetic (TEM), very low‐frequency (VLF) and electrical tomography methods were chosen. The test was conducted over several profiles. The results showed that among the electrical resistivity arrays, the Wenner–Schlumberger is the most suitable for the detection of the conduit some metres in depth, whereas the other electrical methods did not have enough resolution to distinguish between the aqueduct and other non‐related anomalies at the requested depth. The TEM method also showed good capability to detect the presence of the aqueduct in spite of very conductive superficial layers. With the exception of one profile, all VLF profiles showed anomalies that could be correlated to the aqueduct. Copyright © 2014 John Wiley & Sons, Ltd.
Isolation of an organic solvent‐tolerant bacterium Bacillus licheniformis PAL05 that is able to secrete solvent‐stable lipase
Authors: Anbu Periasamy , Hur Byung Ki 
Published: January 2014

AbstractIn this study, seven lipase‐producing bacterial strains were isolated from salt‐enriched and cattle farm soil samples after incubation in toluene‐ and benzene‐enriched media. One strain (PAL05) showed significantly greater lipase activity on spirit blue agar medium and stability in organic solvents. The positive strain (PAL05) was identified as Bacillus licheniformis by 16S rRNA gene sequencing. Lipase production was optimized in a medium containing glycerol as the carbon source and Tween 80 as an inducer (0.5% glycerol + 0.5% Tween 80) at pH 8.0 and a temperature of 30 °C. In addition, the enzyme was moderately halotolerant as it exhibited increased activity in the presence of 2.5% NaCl. Optimized conditions increased the lipase production threefold. Crude lipase retained its activity for 14 days of incubation in the presence of various organic solvents at a level of 25% and 50%. The enzyme was stable at 25% in most solvents; some of the solvents such as hexane, benzene, and ethanol actually stimulated enzyme activity. The organic solvent stability of the lipase produced by the strain PAL05 enables the enzyme to be used as a potential biocatalyst for ester synthesis and other applications in nonaqueous conditions.
The construction of a bifunctional fusion protein consisting of SEC2 and EGFP
Authors: Liu Yanli , Xu Mingkai , Li Xu , Sun Jian , Zhang Chenggang , Zhang Huiwen 
Published: January 2014

AbstractThe aim of this study was to construct a bifunctional fusion protein consisting of staphylococcal enterotoxin C2 (SEC2) and enhanced green fluorescent protein (EGFP). We inserted EGFP and SEC2 fragments into the pET‐28a(+) vector to create the expression plasmid vector, pET‐28a(+)‐SEC2‐EGFP, using a two‐step method. After verification of the plasmid, successful isolation of the fusion protein, SEC2‐EGFP, was achieved by Ni+‐affinity chromatography. Fluorescence microscopy, methylthiazol tetrazolium, and flow cytometry assays demonstrated that the constructed fusion protein not only retained the fluorescence signal of EGFP but also exhibited SEC2 bioactivity. Therefore, SEC2‐EGFP is a promising tool for the study of the detailed temporal and spatial distributions of SEC2 in cells. Future studies with this vector may help uncover novel therapeutic strategies to treat or manage SEC2‐associated diseases and be a new clinical tool for exploiting SEC2 in immunotherapy.
Matrix‐assisted refolding and purification of placenta‐derived recombinant human interleukin‐6 produced in Escherichia coli
Authors: Ahmed Nadeem , Zafar Ahmad Usman , Khan Mohsin Ahmad , Tahir Saad , Khan Muhammad Islam , Bashir Hamid , Khan Faidad , Sarwar Samreen , Ilyas Sadaf , Husnain Tayyab 
Published: January 2014

AbstractBiological activity of human interleukin‐6 (IL‐6) is associated with a vast number of diseases such as rheumatoid arthritis, sepsis, and severe inflammatory diseases. In this study, human IL‐6 cDNA was isolated from a cDNA library that was constructed with mRNA derived from human placental tissues. Subsequently, the complete human IL‐6 cDNA was cloned and expressed in BL21DE3 cells. The recombinant human IL‐6 (rhIL‐6) protein was expressed in a form of an insoluble inclusion body. Inclusion bodies were solubilized under denaturing conditions and purified by immobilized metal affinity chromatography with gradual on‐column refolding by the gradient elution method (from 6 to 0 M urea). The protein was purified to apparent homogeneity of about 99% with a yield of 50 mg/L. The purity was assessed by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS‐PAGE), size exclusion high‐performance liquid chromatography, and Western blotting analysis. The bioactivity was assessed by proliferation assay of TF‐1 cells in a dose‐dependent manner. The present study confirms the expression of the placenta‐derived IL‐6 gene in a prokaryotic expression system and matrix‐assisted on‐column refolding and purification of rhIL‐6 by immobilized metal affinity chromatography.
Luminescence enhancement of terbium(III) perchlorate by 2,2′‐dipyridyl on bis(benzylsulfinyl)methane complex and luminescence mechanism
Authors: Feng Shu‐Yan , Li Wen‐Xian , Guo Feng , Cao Xiao‐Fang 
Published: January 2014

ABSTRACTA novel ternary complex, Tb2L4·L′·(ClO4)6·8H2O, has been synthesized using bis(benzylsulfinyl)methane as the first ligand L and 2,2′‐dipyridyl as the second ligand L′. The ternary complex was characterized by element analysis, molar conductivity, coordination titration analysis, infrared, thermogravimetric‐differential scanning calorimetric and ultraviolet spectra. The results indicated that the composition of the complex was Tb2L4·L′·(ClO4)6·8H2O (L = C6H5CH2SOCH2SOCH2C6H5; L′ = Dipy). Fourier transform infrared results revealed that the perchlorate group was bonded with the Tb(III) ion by the oxygen atom, and the coordination was bidentate. The fluorescent spectra illustrated that the complex displayed characteristic fluorescence in the solid state. After the introduction of the second ligand, 2,2‐dipyridyl, the relative emission intensity and fluorescence lifetime of the ternary complex Tb2L4·L′·(ClO4)6·8H2O were enhanced compared to the binary complex TbL2.5(ClO4)3·3H2O. This indicated that the presence of both organic ligand bis(benzylsulfinyl)methane and the second ligand 2,2‐dipyridyl could sensitize the fluorescence intensity of Tb(III) ion, and introduction of the 2,2‐dipyridyl group resulted in an enhancement of the fluorescence of the Tb(III) ternary rare earth complex. The strongest characteristic fluorescence emission intensity of the ternary complex was 9.36 times that of the binary complex. The phosphorescence spectra and fluorescence lifetime of the complex were also measured. Copyright © 2014 John Wiley & Sons, Ltd.
Enhanced genetic operators design for waveband selection in multivariate calibration based on NIR spectroscopy
Authors: Cernuda Carlos , Lughofer Edwin , Hintenaus Peter , Märzinger Wolfgang 
Published: January 2014

Nowadays, the techniques employed in data acquisition provide huge amounts of data. Some parts of the information are related to the others, making dimensionality reduction desirable, and losing less information as much as possible, in order to decrease computational times and complexity when applying any ensuing data mining technique. Genetic algorithms offer the possibility of selecting which variables contain the most relevant information to represent all the original ones. The traditional genetic operators seem to be too general, leading to results that could be improved by means of designed genetic operators that employ some available problem‐specific information. Especially, when dealing with calibration by means of near‐infrared spectral data, which use to contain thousands of variables, it is known that not isolated wavelengths but wavebands allow a more robust model design. This aspect should be taken into account when crossing individuals. We propose three crossover operators specifically designed for calibration with near‐infrared spectral data, based on a pseudo‐random two‐point crossover, where the first point is chosen randomly, and the selection of the second point is guided by problem‐specific information. We compare their performance with that of state‐of‐the‐art operators. We combine these new genetic algorithm‐based variable selection designs with partial least squares regression and fuzzy systems based calibration.Our benchmark consists of two real‐world high‐dimensional data sets, corresponding to polyetheracrylat, where hydroxyl number, viscosity, and acidity are on‐line monitored; and melamine resin production, where the chilling point (CP) is considered in order to regulate the condensation. We show that designed operators promote wavebands selection, achieve better‐quality solutions, and converge faster and smoother than state‐of‐the‐art operators. Copyright © 2014 John Wiley & Sons, Ltd.
Developing an objective marker to optimize patient selection and predict survival benefit in early‐phase cancer trials
Authors: Stavraka Chara , Pinato David J. , Turnbull Samantha J. , Flynn Michael J. , Forster Martin D. , O'Cathail Sean M. , Babar Sayed , Seckl Michael J. , Kristeleit Rebecca S. , Blagden Sarah P. 
Published: January 2014

BACKGROUNDSeveral prognostic indices have been devised to optimize patient selection for phase 1 oncology trials with no consensus as to the optimal score and none qualifying as a marker of treatment response.METHODSMultivariate predictors of overall survival (OS) were tested on 118 referred patients to develop the Hammersmith Score (HS). The score's ability to predict OS, progression‐free survival (PFS), and 90‐day mortality (90DM) was compared with other prognostic indices. Changes in HS were recalculated during treatment.RESULTSAlbumin < 35 g/L, lactate dehydrogenase > 450 U/L, and sodium < 135 mmol/L emerged as independent prognostic factors. These were used with equal weighting to devise the HS, a compound prognostic index ranging from 0 to 3. High (HS = 2‐3) score predicted worse OS (hazard ratio [HR] = 6.5,P < .001), PFS (HR = 2.8,P = .01), and 90DM (OR = 9.0,P < .001). HS was a more accurate multivariate predictor of OS (HR = 6.4,P < .001, C‐index = 0.72), PFS (HR = 2.7,P = .03), and 90DM (area under the ROC curve 0.703) compared with other scores. Worsening of the HS during treatment predicted for shorter OS (P < .001). HS retained prognostic and predictive ability following external validation.CONCLUSIONSHS is a simple, validated index to optimize patient selection and predict survival benefit from phase 1 oncology treatments. Prospective validation is ongoing.Cancer2014;120:262–270.©2013 American Cancer Society.
In Operando Spatiotemporal Study of Li2O2 Grain Growth and its Distribution Inside Operating Li–O2 Batteries
Authors: Shui Jiang‐Lan , Okasinski John S. , Chen Chen , Almer Jonathan D. , Liu Di‐Jia 
Published: January 2014

AbstractNanocrystalline lithium peroxide (Li2O2) is considered to play a critical role in the redox chemistry during the discharge–charge cycling of the Li–O2 batteries. In this report, a spatially resolved, real‐time synchrotron X‐ray diffraction technique was applied to study the cyclic formation/decomposition of Li2O2 crystallites in an operating Li–O2 cell. The evaluation of Li2O2 grain size, concentration, and spatial distribution inside the cathode is demonstrated under the actual cycling conditions. The study not only unambiguously proved the reversibility of the Li2O2 redox reaction during reduction and evolution of O2, but also allowed for the concentration and dimension growths of the peroxide nanocrystallites to be accurately measured at different regions within the cathode. The results provide important insights for future investigation on mass and charge transport properties in Li2O2 and improvement in cathode structure and material design.
Molybdenum‐Catalyzed Deoxydehydration of Vicinal Diols
Authors: Dethlefsen Johannes R. , Lupp Daniel , Oh Byung‐Chang , Fristrup Peter 
Published: January 2014

AbstractThe commercially available (NH4)6Mo7O24 and other molybdenum compounds are shown to be viable substitutes for the typically employed rhenium compounds in the catalytic deoxydehydration of aliphatic diols into the corresponding alkenes. The transformation, which represents a model system for the various hydroxyl groups found in biomass‐derived carbohydrates, can be conducted in an inert solvent (dodecane), under solvent‐free conditions, and in a solvent capable of dissolving biomass‐derived polyols (1,5‐pentanediol). The reaction is driven by the simultaneous oxidative deformylation of the diol resulting in an overall disproportionation of the substrate.
Sol–Gel Synthesis of Aliovalent Vanadium‐Doped LiNi0.5Mn1.5O4 Cathodes with Excellent Performance at High Temperatures
Authors: Kim Min Chul , Nam Kyung‐Wan , Hu Enyuan , Yang Xiao‐Qing , Kim Hyungsub , Kang Kisuk , Aravindan Vanchiappan , Kim Woo‐Seong , Lee Yun‐Sung 
Published: January 2014

AbstractExtraordinary performance at elevated temperature is achieved for high‐voltage spinel‐phase LiNi0.5Mn1.5O4 cathodes prepared using an adipic‐acid‐assisted sol–gel technique and doped with vanadium. V‐substitution in the Li sites (Wykoff position 8a) is confirmed by V K‐edge X‐ray absorption spectroscopy and Rietveld refinement (Li0.995V0.005Ni0.5Mn1.5O4). V‐doped LiNi0.5Mn1.5O4 delivered a reversible capacity of approximately 130 and 142 mAh g−1 at ambient and elevated temperature conditions, respectively. Furthermore, the Li0.995V0.005Ni0.5Mn1.5O4 phase rendered approximately 94 % and 84 % of initial capacity compared to approximately 85 % and 3 % for the LiNi0.5Mn1.5O4 phase after 100 cycles in ambient and elevated temperature conditions, respectively. The enhancements are mainly because of the suppression of Mn dissolution and unwanted side reaction with electrolyte counterpart, and to the increase in conductivity, improving the electrochemical profiles for the V‐doped phase.
Selective Catalytic Production of 5‐Hydroxymethylfurfural from Glucose by Adjusting Catalyst Wettability
Authors: Wang Liang , Wang Hong , Liu Fujian , Zheng Anmin , Zhang Jian , Sun Qi , Lewis James P. , Zhu Longfeng , Meng Xiangju , Xiao Feng‐Shou 
Published: January 2014

AbstractThe development of highly‐efficient catalysts for conversion of glucose and fructose to 5‐hydroxymethylfurfural (HMF) is of great importance. In this work, theoretical simulations form the basis for rational design and synthesis of a superhydrophobic mesoporous acid, that can completely prevent HMF hydration, giving HMF as sole product from full conversion of fructose. Interestingly, the combined superhydrophobic solid acid and superhydrophilic solid base catalysts are very efficient for one‐pot conversion of glucose to HMF, giving a yield as high as 95.4 %. The excellent catalytic data in the conversion of glucose to HMF is attributed to the unique wettabilities of the solid acid and base catalysts.
Energy spectral efficiency tradeoff in downlink OFDMA network
Authors: Li Zhihang , Jiang Huilin , Pan Zhiwen , Liu Nan , You Xiaohu 
Published: January 2014

SummarySpectral efficiency (SE) is an important metric in traditional wireless network design. However, as the development of high‐data rate services and rapidly increase of energy consumption, energy efficiency (EE) has received more and more attention. In this paper, we investigate the EE–SE tradeoff in downlink OFDMA network. Different from previous researches, we try to optimize EE and SE simultaneously. First, the problem is formulated as a multiobjective optimization problem (MOP), and its Pareto optimal set is characterized. Then, we convert the MOP to a single‐objective optimization problem (SOP) by the weighted linear sum method and show that it is neither quasi‐convex nor quasi‐concave. After that, a novel algorithm using particle swarm optimization is proposed to solve the SOP. Simulation results validate that the proposed algorithm can efficiently reduce total transmit power and improve EE, although the cost is sacrificing some SE, which could be used to design an flexible energy efficient network in the future.Copyright © 2014 John Wiley & Sons, Ltd.
Gene expression profile of brain regions reflecting aberrations in nervous system development targeting the process of neurite extension of rat offspring exposed developmentally to glycidol
Authors: Akane Hirotoshi , Saito Fumiyo , Shiraki Ayako , Imatanaka Nobuya , Akahori Yumi , Itahashi Megu , Wang Liyun , Shibutani Makoto 
Published: January 2014

ABSTRACTWe previously found that exposure to glycidol at 1000 ppm in drinking water caused axonopathy in maternal rats and aberrations in late‐stage hippocampal neurogenesis, targeting the process of neurite extension in offspring. To identify the profile of developmental neurotoxicity of glycidol, pregnant Sprague–Dawley rats were given drinking water containing glycidol from gestational day 6 until weaning on day 21 after delivery, and offspring at 0, 300 and 1000 ppm were subjected to region‐specific global gene expression profiling. Four brain regions were selected to represent both cerebral and cerebellar tissues, i.e., the cingulate cortex, corpus callosum, hippocampal dentate gyrus and cerebellar vermis. Downregulated genes in the dentate gyrus were related to axonogenesis (Nfasc), myelination (Mal, Mrf and Ugt8), and cell proliferation (Aurkb and Ndc80) at ≥ 300 ppm, and upregulated genes were related to neural development (Frzb and Fzd6) at 1000 ppm. Upregulation was observed for genes related to myelination (Kl, Igf2 and Igfbp2) in the corpus callosum and axonogenesis and neuritogenesis (Efnb3, Tnc and Cd44) in the cingulate cortex, whereas downregulation was observed for genes related to synaptic transmission (Thbs2 and Ccl2) in the cerebellar vermis; all of these changes were mostly observed at 1000 ppm. Altered gene expression of Cntn3, which functions on neurite outgrowth‐promotion, was observed in all four brain regions at 1000 ppm. Gene expression profiles suggest that developmental exposure to glycidol affected plasticity of neuronal networks in the broad brain areas, and dentate gyrus neurogenesis may be the sensitive target of this type of toxicity. Copyright © 2014 John Wiley & Sons, Ltd.