bluuebunny/crossref_metadata_2025_split huggingface dataset:
A new genomic mechanism leading to cri‐du‐chat syndrome
Authors: South Sarah T. , Swensen Jeffrey J. , Maxwell Teresa , Rope Alan , Brothman Arthur R. , Chen Zhong 
Published: November 2006

AbstractUsing standard banding techniques, a within‐arm intrachromosomal insertion can be mistakenly interpreted as a paracentric inversion. The need to correctly distinguish between these two types of chromosome rearrangements is emphasized by their different reproductive risks. For carriers of an intrachromosomal insertion, the empiric risk of having a liveborn child with a recombinant chromosome leading to a genetic imbalance is at least 15%, whereas the risk for a carrier of a paracentric inversion having a liveborn child with a recombinant chromosome leading to a genetic imbalance is thought to be practically negligible. We report a unique observation in which a paracentric inversion in the short arm of chromosome 5, 46,XX,inv(5)(p13.3p15.3), was identified in a women who had a daughter with an apparently terminal deletion in the distal short arm of chromosome 5, 46,XX,del(5)(p14.3), and the clinical diagnosis of cri‐du‐chat syndrome. We further characterized the rearrangement, and fluorescence in situ hybridization (FISH) and microsatellite analyses confirmed the paracentric inversion in the mother and showed the deletion in the daughter was maternal in origin. Therefore, this represents a case in which a confirmed paracentric inversion likely resulted in a viable terminal deletion. We propose a mechanism involving dicentric chromosome formation with subsequent breakage and telomere healing during meiosis. This illustrates a new genomic mechanism of chromosome rearrangement leading to cri‐du‐chat syndrome and should provide significant information for the medical management of patients with other terminal deletion syndromes. © 2006 Wiley‐Liss, Inc.
Intracranial abnormalities detected by three‐dimensional magnetic resonance imaging in Prader–Willi syndrome
Authors: Miller Jennifer L. , Couch Jessica A. , Schmalfuss Ilona , He Guojun , Liu Yijun , Driscoll Daniel J. 
Published: November 2006

AbstractThe neuropathologic abnormalities associated with Prader–Willi syndrome (PWS) are largely unknown. PWS is due to the loss of several paternally expressed genes in chromosome 15q11‐q13 region. Several of the imprinted genes in the 15q11‐q13 region are normally expressed in the brain and thought to be necessary for neuronal growth and development. Thus, we hypothesized that we would find abnormalities in gray and white matter growth in individuals with PWS. We evaluated three‐dimensional (3‐D) MRI scans of 20 individuals with PWS, aged three months to 39 years, and compared them to 3‐D MRI scans of 21 normal weight sibling controls and 16 individuals with early‐onset morbid obesity (EMO) of unknown etiology. The interpreters of the scans were blinded to the diagnosis of the subjects. Intracranial abnormalities in individuals with PWS included ventriculomegaly (100% of individuals), decreased volume of brain tissue in the parietal‐occipital lobe (50%), sylvian fissure polymicrogyria (60%), and incomplete insular closure (65%). None of the EMO or normal weight control subjects had any of these findings. We found multiple morphologic brain abnormalities in subjects with PWS suggesting that the loss of paternally expressed genes in chromosome 15q11‐q13 region may result in abnormalities of neuronal development. The specific mechanisms underlying these neuropathological abnormalities and their correlation with the clinical phenotype remain to be elucidated. © 2006 Wiley‐Liss, Inc.
Sudden infant death in a patient with FGFR3 P250R mutation
Authors: Shah P.S. , Siriwardena K. , Taylor G. , Steele L. , Ray P. , Blaser S. , Chitayat D. 
Published: November 2006

AbstractP250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. We report a family with this mutation associated with sudden death in an affected newborn, most probably due to upper airway obstruction. © 2006 Wiley‐Liss, Inc.
High‐throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy
Authors: Bruno Damien L. , Burgess Trent , Ren Hua , Nouri Sara , Pertile Mark D. , Francis David I. , Norris Fiona , Kenney Bronwyn K. , Schouten Jan , Andy Choo K.H. , Slater Howard R. 
Published: November 2006

AbstractChromosome analysis of spontaneous miscarriages is clinically important but is hampered by frequent tissue culture failure and relatively low‐resolution analysis. We have investigated replacement of conventional karyotype analysis with a quantitative subtelomere assay performed on uncultured tissue samples, which is based on Multiplex Ligation‐Dependent Probe Amplification. This assay is suitable for this purpose as approximately 98% of all observed karyotype abnormalities in spontaneous miscarriages involve copy‐number change to one or more subtelomere regions. A pilot study has compared karyotyping and subtelomere analysis on 78 samples. Extensive tissue necrosis accounted for failure of both karyotyping and subtelomere testing in four (5.1%) samples. Excluding these, there were no (0/74) subtelomere test failures compared to 9.5% (7/74) karyotype failures. Twenty‐two (30%) whole chromosome aneuploidies and five (6.8%) structural abnormalities were detected using the subtelomere assay. With the exception of three cases of triploidy, all karyotype abnormalities were detected by the subtelomere assay. Following on from this study, a further 100 samples were tested using the subtelomere assay in conjunction with a simple ancillary FISH test using uncultured cells to exclude polyploidy in the event of a normal subtelomere assay result. Except for three necrotic samples, tests results were obtained for all cases revealing 18 abnormalities including one case of triploidy. Taking into consideration the high success rate for the combined MLPA and FISH test results, and the very significant additional advantages of cost‐effective, high‐throughput batching, and automated, objective analysis, this approach greatly facilitates routine investigation of chromosome abnormalities in spontaneous miscarriage. © 2006 Wiley‐Liss, Inc.
NMR analysis of butyl acrylate/methylmethacrylate/α‐methyl styrene terpolymers
Authors: McManus Neil T. , Penlidis Alex 
Published: November 2006

AbstractComposition analysis for butyl acrylate (BA)/ methyl methacrylate (MMA)/α‐methyl styrene terpolymers was carried out by NMR spectroscopy methods. 1H‐NMR was used primarily for this analysis, but because the method did not provide independent measurements for the BA and MMA fractions, the terpolymer composition analysis was open to higher than normal levels of uncertainty. Supplementary analyses were made with quantitative 13C‐NMR methods to confirm the results from 1H‐NMR (quantitative 13C‐NMR was used to provide corroboration of selected composition analyses). To confirm spectral assignments in the 1H‐ and 13C‐NMR spectra, heteronuclear multiple quantum coherence and J Modulated Spin Echo (JMOD) pulse sequences were used. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 103: 2093–2098, 2007
Synthesis and characterization of titanium dioxide optical films by sol–gel processes
Authors: Chiu Wei‐Ming , Yang Chang‐Feng , Chao Yi‐Han 
Published: November 2006

AbstractThe main purpose of this study is to synthesize the front panel of monitor with a high refractive index optical film. Our experiment uses titanium dioxide nanoparticles mixed with methyl methacrylate (MMA), 2‐hydroxyethyl methacrylate (2‐HEMA), and tri(ethylene glycol) dimethacrylate (TEGDMA) of the wet type and economical sol–gel production process. Our product has a superior mechanical, thermal, and optical properties was demonstrated by Fourier transform infrared spectrum (FTIR), differential scanning calorimeter (DSC), thermogravimetric analysis (TGA), UV/visible spectrum, and Spectro Ellipsometer. In addition, we found the surface of the two series of thin film with the organic and inorganic high refractive index (TiO2) mixed materials, has high transmittance for visible light above 90%, refractive index <1.65 and the hardness test 6H. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 103: 2271–2280, 2007
Visualization of the citation impact environments of scientific journals: An online mapping exercise
Authors: Leydesdorff Loet 
Published: November 2006

AbstractAggregated journal–journal citation networks based on the Journal Citation Reports 2004 of the Science Citation Index (5,968 journals) and the Social Science Citation Index (1,712 journals) are made accessible from the perspective of any of these journals. A vector‐space model is used for normalization, and the results are brought online at http://www.leydesdorff.net/jcr04 as input files for the visualization program Pajek. The user is thus able to analyze the citation environment in terms of links and graphs. Furthermore, the local impact of a journal is defined as its share of the total citations in the specific journal's citation environments; the vertical size of the nodes is varied proportionally to this citation impact. The horizontal size of each node can be used to provide the same information after correction for within‐journal (self‐)citations. In the “citing” environment, the equivalents of this measure can be considered as a citation activity index which maps how the relevant journal environment is perceived by the collective of authors of a given journal. As a policy application, the mechanism of interdisciplinary developments among the sciences is elaborated for the case of nanotechnology journals.
Enantio‐ and Diastereoselective Total Synthesis of (+)‐Panepophenanthrin, a Ubiquitin‐Activating Enzyme Inhibitor, and Biological Properties of Its New Derivatives
Authors: Matsuzawa Masayoshi , Kakeya Hideaki , Yamaguchi Junichiro , Shoji Mitsuru , Onose Rie , Osada Hiroyuki , Hayashi Yujiro 
Published: November 2006

AbstractThe asymmetric total synthesis of (+)‐panepophenanthrin, an inhibitor of ubiquitin‐activating enzyme (E1), has been accomplished using catalytic asymmetric α aminoxylation of 1,4‐cyclohexanedione monoethylene ketal as a key step, followed by several diastereoselective reactions. The biomimetic Diels–Alder reaction of a monomer precursor was found to proceed efficiently in water. The investigation of the biological properties of new derivatives of (+)‐panepophenanthrin enabled us to develop new cell‐permeable E1 inhibitors, RKTS‐80, ‐81, and ‐82.
Precipitants and additives for membrane crystallization of lysozyme
Authors: Zhang Xinmiao , El‐Bourawi Mohamed S. , Wei Kegui , Tao Fengyun , Ma Runyu 
Published: November 2006

AbstractMembrane crystallization is a newly developed crystallization technique that has proven to be superior in producing good crystal forms under operating conditions that are not appropriate to perform the crystallization process by other traditional techniques. In this work, static membrane crystallization was carried out on lysozyme, with hollow‐fiber microporous hydrophobic membranes. Numerous precipitant and additive types and concentrations were employed in the crystallization processes in order to select the most appropriate precipitant and additive types and to find their corresponding concentration levels that can yield the best crystal forms. The crystallization processes were analyzed in two ways: firstly, by evaluation of the transmembrane fluxes obtained by using different precipitants and additives; secondly, by utilization of the images and results obtained from the micrography and IR spectra in comparisons and evaluations of the crystals formed under all kinds of conditions. Moreover, the size distributions of the crystals yielded under several typical crystallization conditions were analyzed, and turbidity and induction time periods obtained during typical crystallization experiments were also measured. Amongst the numerous precipitants and additives tested, the most appropriate precipitant type and additive were chosen and their concentrations were optimized. Good lysozyme crystals were obtained using a certain precipitant and additive. The obtained results from this work further support the advantages of utilizing the membrane crystallization technique for macromolecule crystallizations.
Biotechnology and bioeconomy in China
Authors: Li Qing , Zhao Qinghua , Hu Yihong , Wang Hongguang 
Published: November 2006

AbstractFrom the review of the achievements and advantages in the development of biotechnology (BT) and bioindustry in China, it is clear that the bioeconomy would provide a tremendous opportunity for China to develop sustainably or even surpass a few developed countries. A long‐term vision has been made to guide the research and development and industrialization of BT in China. This review detailed the strategies, targets, priorities, and key technologies in each stage. Furthermore, the reviewers expatiated on the establishment of the favorable policies, the foundation of the professional groups, the establishment of the advanced laboratories or centers, the investment mechanisms, the development and evaluation of biosafety, the encouragement and suppor7 for the international collaborations and exchanges, and the establishment of the general organizational structure.
Caenorhabditis elegans: A versatile platform for drug discovery
Authors: Artal‐Sanz Marta , de Jong Liesbeth , Tavernarakis Nektarios 
Published: November 2006

AbstractDrug discovery and drug target identification are two intimately linked facets of intervention strategies aimed at effectively combating pathological conditions in humans. Simple model organisms provide attractive platforms for devising and streamlining efficient drug discovery and drug target identification methodologies. The nematode worm Caenorhabditis elegans has emerged as a particularly convenient and versatile tool that can be exploited to achieve these goals. Although C. elegans is a relatively modern addition to the arsenal of model organisms, its biology has already been investigated to an exceptional level. This, coupled with effortless handling and a notable low cost of cultivation and maintenance, allows seamless implementation of high‐throughput drug screening approaches as well as in‐depth genetic and biochemical studies of the molecular pathways targeted by specific drugs. In this review, we introduce C. elegans as a model organism with significant advantages toward the identification of molecular drug targets. In addition, we discuss the value of the worm in the development of drug screening and drug evaluation protocols. The unique features of C. elegans, which greatly facilitate drug studies, hold promise for both deciphering disease pathogenesis and formulating educated and effective therapeutic interventions.
Effects of ethylene glycol on the torsion elastic constant and hydrodynamic radius of p30δ DNA
Authors: Rangel David P. , Brewood Greg P. , Fujimoto Bryant S. , Schurr J. Michael 
Published: November 2006

AbstractUpon increasing the concentration of ethylene glycol (EG) at 37°C, the twist energy parameter, ET, which governs the supercoiling free energy, was recently found to undergo a decreasing (or reverse) sigmoidal transition with a midpoint near 20 w/v % EG. In this study, the effects of adding 20 w/v % EG on the torsion elastic constant (α) of linear p30δ DNA and on the hydrodynamic radius (RH) of a synthetic 24 bp duplex DNA were examined at both 40 and 20°C. The time‐resolved fluorescence intensity and fluorescence polarization anisotropy (FPA) of intercalated ethidium were measured in order to assess the effects of 20 w/v % EG on: (1) α; (2) RH; (3) the lifetimes of intercalated and non‐intercalated dye; (4) the amplitude of dye wobble in its binding site; and (5) the binding constant for intercalation. The effects of 20 w/v % EG on the circular dichroism (CD) spectrum of the DNA and on the emission spectrum of the free dye were also measured. At 40°C, addition of 20 w/v % EG caused a substantial (1.27‐ to 1.35‐fold) increase in α, a significant change in the CD spectrum, and a very small, marginally significant increase in RH, but little or no change in the amplitude of dye wobble in its binding site or the lifetime of intercalated dye. Together with previously reported measurements of ET, these results imply that the bending elastic constant of DNA is significantly decreased by 20 w/v % EG at 40°C. At 20°C, addition of 20 w/v % EG caused a marginally significant decrease in α and very little change in any other measured properties. Also at 20°C, addition of 30 w/v % betaine caused a marginally significant increase in α and significant but modest change in the CD spectrum, but very little change in any other properties. © 2006 Wiley Periodicals, Inc. Biopolymers 85: 222–232, 2007.This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
A liquid chromatography–mass spectrometry method for the quantitation of aristololactam‐I in rat plasma
Authors: Ling Zhen , Jiang Zhen‐zhou , Huang Xin , Zhang Lu‐yong , Xu Xiao‐yue 
Published: November 2006

AbstractA sensitive method with liquid chromatography–electrospray ionization mass spectrometry has been developed and validated for the determination of aristololactam‐I in rat plasma after oral administration of aristolochic acid‐I using finesteride as the internal standard. Chromatographic separation was achieved on a Lichrospher C18 column using methanol:0.05% acetic acid in water (71:29, v/v) as a mobile phase delivered at a flow rate of 1 mL/min. The assay was linear for aristololactam‐I over the range 0.3–300 ng/mL. The analysis of quality control samples demonstrated precision with coefficient of variation less than 20% (n = 5). Absolute recovery of aristololactam‐I was 90.4–97.3%. The LC‐MS method for the determination of aristololactam‐I is sensitive, specific and can be used to investigate the toxicokinetics of aristololactam‐I. Copyright © 2006 John Wiley & Sons, Ltd.
Pesticide multiresidue analysis in Panax ginseng (C. A. Meyer) by solid‐phase extraction and gas chromatography with electron capture and nitrogen‐phosphorus detection
Authors: Park Young‐Seok , El‐Aty A. M. Abd , Choi Jeong‐Heui , Cho Soon‐Kil , Shin Dong‐Hah , Shim Jae‐Han 
Published: November 2006

AbstractAn analytical multi‐residue method using gas chromatography coupled with electron capture and a nitrogen–phosphorus detector was investigated for the simultaneous determination of 18 commonly used insecticides and fungicides in Korean ginseng (Panax ginseng C. A. Meyer). Samples were previously extracted with an acetonitrile and cleaned up by solid‐phase extraction (SPE). The calibration curves were linear, with determination coefficients higher than 0.989. Recoveries at concentrations between 0.01 and 14.9 ppm ranged from 72.3 to 117.2%, with precision, which was expressed as relative standard deviation (RSD), at values lower than 5%. The proposed method was applied to the determination of pesticide levels from 12 ginseng samples, taken from four different agricultural areas of Jeonnam province, where several insecticides and fungicides were applied. Except in one sample, tolclofos‐m was the only pesticide contained at a level lower than the maximum residue limits (MRL) authorized by the Korea Food and Drug Administration (KFDA) in real ginseng samples grown for 4, 5 and 6 years. Copyright © 2006 John Wiley & Sons, Ltd.
Effects of information layout, screen size, and field of view on user performance in information‐rich virtual environments
Authors: Polys Nicholas F. , Kim Seonho , Bowman Doug A. 
Published: November 2006

AbstractThis paper describes our recent experimental evaluation of Information‐Rich Virtual Environment (IRVE) interfaces. To explore the depth cue/visibility tradeoff between annotation schemes, we design and evaluate two information layout techniques to support search and comparison tasks. The techniques provide different depth and association cues between objects and their labels: labels were displayed either in the virtual world relative to their referent (Object Space) or on an image plane workspace (Viewport Space). The Software Field of View (SFOV) was controlled to 60° or 100° of vertical angle and two groups were tested: those running on a single monitor and those on a tiled nine‐panel display. Users were timed, tracked for correctness, and gave ratings for both difficulty and satisfaction on each task. Significant advantages were found for the Viewport interface, and for high SFOV. The interactions between these variables suggest special design considerations to effectively support search and comparison performance across monitor configurations and projection distortions. Copyright © 2006 John Wiley & Sons, Ltd.
Prediction of the Solubility of Cholesterol and its Esters in Supercritical Carbon Dioxide
Authors: Bozorgmehr M. R. , Housaindokht M. R. 
Published: November 2006

AbstractThe ability to predict the solubility of solids in supercritical fluids is important in many applications, including the food and pharmaceutical industries, chemical processing, and separations. In the present work, the solubility of cholesterol and its esters in supercritical carbon dioxide are investigated by applying equations of state. The equations of state used are: (a) the modified Peng‐Robinson equation of state (Gasem et al.), and (b) the modified Peng‐Robinson equation of state (Boston and Mathias). These equations of state have an exponential alpha function and it is found that they give better results than those resulting from the Peng‐Robinson equation of state which has a linear alpha function. The interaction parameters are also obtained for the systems studied and the percentage of average absolute relative deviation (%AARD) is displayed for each calculation.
Direct Sulfation of Calcium Carbonate Using the Variable Diffusivity Approach
Authors: Rahmani M. , Sohrabi M. 
Published: November 2006

AbstractThe direct sulfation of calcium carbonate was investigated in the temperature range of 600–900 °C under atmospheric pressure. Thermogravimetric analysis was employed to study the direct sulfation reaction. A gas mixture containing 3300 ppm sulfur dioxide in 5 vol.‐% oxygen and 95 vol.‐% carbon dioxide was passed through 3–5 mg of sorbent. The influence of particle size was studied using three different levels of particle average diameter. A variable diffusivity shrinking core model was applied to interpret the time‐conversion data. The conversion dependent effective diffusivity in the porous sulfated layer was estimated based on the two mechanisms in series, i.e., pore diffusion and solid product layer diffusion. By applying the activation energy data for chemical reaction, available in the literature, the reaction rate constant, and the solid product layer diffusivity with Arrhenius type temperature dependency were estimated as adjustable parameters. The variation of fractional conversion with time can be reasonably predicted by using the developed model and the estimated parameters.