bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome
Authors: Hosoki Kana , Ohta Tohru , Natsume Jun , Imai Sumiko , Okumura Akihisa , Matsui Takeshi , Harada Naoki , Bacino Carlos A. , Scaglia Fernando , Jones Jeremy Y. , Niikawa Norio , Saitoh Shinji 
Published: June 2012

AbstractArray‐based technologies have led to the identification of many novel microdeletion and microduplication syndromes demonstrating multiple congenital anomalies and intellectual disability (MCA/ID). We have used chromosomal microarray analysis for the evaluation of patients with MCA/ID and/or neonatal hypotonia. Three overlapping de novo microdeletions at 5q31.3 with the shortest region of overlap (SRO) of 370 kb were detected in three unrelated patients. These patients showed similar clinical features including severe neonatal hypotonia, neonatal feeding difficulties, respiratory distress, characteristic facial features, and severe developmental delay. These features are consistent with the 5q31.3 microdeletion syndrome originally proposed by Shimojima et al., providing further evidence that this syndrome is clinically discernible. The 370 kb SRO encompasses only four RefSeq genes including neuregulin 2 (NRG2) and purine‐rich element binding protein A (PURA). NRG2 is one of the members of the neuregulin family related to neuronal and glial cell growth and differentiation, thus making NRG2 a good candidate for the observed phenotype. Moreover, PURA is also a good candidate because Pura‐deficient mice demonstrate postnatal neurological manifestations. © 2012 Wiley Periodicals, Inc.
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation
Authors: Asakura Yumi , Muroya Koji , Sato Takeshi , Kurosawa Kenji , Nishimura Gen , Adachi Masanori 
Published: June 2012

AbstractThis article reports the first case of a Japanese girl with molecularly confirmed Myhre syndrome (MS). The patient was 9 years old at her first visit, and she had been diagnosed with unknown skeletal dysplasia. Her phenotype fulfilled the clinical and radiological criteria for MS, such as typical facies with prognathism, hearing impairment, short stature, square body shape, and limited joint mobility. The thick calvarium and thick skin were clues to the clinical diagnosis of MS. A heterozygous mutation in the mothers‐against‐DPP homolog 4 (SMAD4) gene has been reported to cause MS. We sequenced SMAD4 using standard PCR‐based technique and identified a recurrent mutation (p.Ile500 Thr). She attained menarche before 11 years of age; however, she developed oligomenorrhea after a few years of 40‐day cycles, necessitating hormone replacement therapy. The luteinizing hormone‐releasing hormone (LHRH) tests suggested abnormalities related to hypothalamo‐hypophyseal malfunction. Previous reports on MS described early menarche in girls and early or delayed puberty and cryptorchidism in boys. Therefore, we recommend performing an endocrinological evaluation of the hypothalamo‐hypophyseal‐gonadal axis in patients with MS to clarify whether hormonal abnormalities are associated with the syndrome. © 2012 Wiley Periodicals, Inc.
Coherent phonon generation and detection in ultrathin SrTiO3 grown directly on silicon
Authors: Cen C. , Warusawithana M.P. , Levy J. 
Published: June 2012

AbstractTime‐resolved two color pump‐probe polarization spectroscopy was performed at room temperature on SrTiO3 films grown directly on Si with film thickness varying from 2 nm to 7.8 nm. An E‐symmetry mode with a characteristic frequency of 0.2 THz is impulsively generated and measured in these coherently strained tetragonal phase SrTiO3 thin films. A superimposed exponentially decaying signal observed indicates the possible relaxational hopping of Ti ion between double potential wells. The dependence of the coherent phonon signal on pump and probe laser polarization helps to identify the symmetry of the phonon modes.
Inhibitoren für das konstitutive Proteasom und das Immunoproteasom: aktuelle und zukünftige Tendenzen in der Medikamentenentwicklung
Authors: Huber Eva Maria , Groll Michael 
Published: June 2012

AbstractProteolytischer Abbau ist ein essenzieller zellulärer Vorgang, der hauptsächlich durch das 20S‐Proteasomkernpartikel (CP), eine Protease von 720 kDa und 28 einzelnen Untereinheiten, bewerkstelligt wird. Wegen seiner zentralen Funktion ist das Proteasom ein vielversprechendes Angriffsziel für Wirkstoffe, das nach intensiven Untersuchungen im letzten Jahrzehnt mit der Zulassung von Bortezomib durch die US Food and Drug Administration (FDA) auch validiert worden ist. Gegenwärtig werden mehrere verbesserte Proteasominhibitoren der zweiten Generation in klinischen Studien als Krebswirkstoffe untersucht, und die meisten von ihnen hemmen sowohl das konstitutive Proteasom (cCP) als auch das Immunoproteasom (iCP). Allerdings scheint die selektive Inhibition des iCP, einer speziellen Proteasomklasse, die vorrangig in Immunzellen exprimiert wird, eine erfolgversprechende therapeutische Maßnahme für die Behandlung von Autoimmunerkrankungen zu sein. Auch wenn bereits wenige selektive Substanzen identifiziert worden sind, unterstützt die kürzlich bestimmte Kristallstruktur des iCP die Entwicklung und Optimierung iCP‐selektiver Verbindungen.
Effect of polymer in situ synthesized from methyl methacrylate and styrene on the morphology, thermal behavior, and durability of wood
Authors: YongFeng Li , XiaoYing Dong , ZeGuang Lu , WanDa Jia , YiXing Liu 
Published: June 2012

AbstractA novel fast‐growing poplar wood, Populus ussuriensis Kom, was prepared into wood‐polymer composite by the in situ polymerization of methyl methacrylate and styrene through a vacuum/pressure and subsequent catalyst‐thermal process. scanning electron microscopy observation, FTIR, X‐ray diffraction, dynamic mechanical analysis, and thermogravimetric/derivative thermogravimetric analysis indicated that the resulted polymer well filled up wood cell lumen in an amorphous form and reinforced wood matrix, which resulted in the improvement of glass transition temperature, storage modulus, and thermal stability of wood. The decay resistance and dimensional stability of wood were also improved. Such wood‐based composite could be potentially used as reinforced material in construction fields. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Thermal storage nanocapsules by miniemulsion polymerization
Authors: de Cortazar Maider García , Rodríguez Raquel 
Published: June 2012

AbstractParaffin wax was nanoencapsulated by miniemulsion polymerization. Low solid content batch polymerizations were carried out and the influence of paraffin wax/methyl methacrylate ratio on polymeriztion kinetics, phase change properties, and thermal stability were investigated. Paraffin concentration controls the nucleation mechanism and nanocapsules particle size. The latent heat capacity increases as the content of encapsulated paraffin wax increases. The maximum amount of encapsulated paraffin wax achieved under the experimental conditions was 60 wt %, presenting a latent heat capacity of 140.3 J/g. Moreover, the encapsulated systems present in all cases better thermal stability than pure paraffin wax. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Reflective writing as a tool for assessing teamwork in bioscience: Insights into student performance and understanding of teamwork
Authors: Mayne Lynne 
Published: June 2012

AbstractTo ensure a modern bioscience curriculum that responds to the current needs of stakeholders, there is a need to embed a range of generic capabilities that enables graduates to succeed in and contribute to a rapidly changing world, as well as building strong bioscience skills and knowledge. The curriculum must also prepare students for a rapidly evolving competitive work place and align with the needs of industry. This creates a challenge, how do we develop generic capabilities without losing discipline content. This report analyses teamwork projects embedded in an undergraduate Biotechnology degree designed to promote teamwork skills along with a deeper understanding of the underpinning biochemistry. Student reflective writing was used to capture students' understanding and experience of teamwork as well as provide insight into their metacognition. The analysis demonstrates that 73% of Year 3 and 93% of Year 4 students were capable of learning about teamwork through reflective writing. While the importance of frequent high quality communication was a common theme, evidence suggests that many students were unsophisticated in their use of communication software. The analysis also highlighted the depth of metacognition that underpins successful team function and the significant weaknesses in self‐insight some students possess. These findings challenge assumptions regarding student capacity for leadership and the ability of some students to contribute to successful team outcomes. It is essential for the design of teamwork experiences to fully understand the competencies that underlie teamwork, the metacognitive processes required, and ensure that assessments are fair and measure individual academic performance.
Athena: A hybrid management system for multi‐device educational content
Authors: Vásquez‐Ramírez Raquel , Alor‐Hernández Giner , Rodríguez‐González Alejandro 
Published: June 2012

ABSTRACTOver the past few years, a number of software applications have been proposed to tackle the administration, documentation, tracking, and reporting of training programs and contents such as CMS (Content Management System) and LMS (Learning Management System). However, CMS focuses on the administration and development of websites, while LMS is mainly focused on the management of training through the use of learning objects. CMS and LMS have features that can be used in conjunction in order to create educational environments which enhance the teaching–learning process in classrooms. This article presents a hybrid management system called Athena for multi‐device educational content providing a set of Web‐based interfaces for managing, presenting, and generating PHP‐based applications with educational content, reducing both the time and effort invested during the development process of this type of software. Athena borrows the main features of both CMS and LMS in order to manage and reuse educational content. Athena allows the user to develop platform‐independent multi‐device educational software using existing educational content. Athena aims to provide new forms of accessibility to educational content, envisioning a better future for online education. To demonstrate Athena's capabilities, we have presented a case study for generating a multi‐device physics course to emphasize our contribution.© 2012 Wiley Periodicals, Inc. Comput Appl Eng Educ 22:750–763, 2014; View this article online at wileyonlinelibrary.com/journal/cae; DOI 10.1002/cae.21567
Achieving Regio‐ and Enantioselectivity of P450‐Catalyzed Oxidative CH Activation of Small Functionalized Molecules by Structure‐Guided Directed Evolution
Authors: Agudo Rubén , Roiban Gheorghe‐Doru , Reetz Manfred T. 
Published: June 2012

AbstractDirected evolution of the monooxygenase P450‐BM3 utilizing iterative saturation mutagenesis at and near the binding site enables a high degree of both regio‐ and enantioselectivity in the oxidative hydroxylation of cyclohexene‐1‐carboxylic acid methyl ester. Wild‐type P450‐BM3 is 84 % regioselective for the allylic 3‐position with 34 % enantioselectivity in favor of the R alcohol. Mutants enabling R selectivity (>95 % ee) or S selectivity (>95 % ee) were evolved, while reducing other oxidation products and thus maximizing regioselectivity to >93 %. Control of the substrate‐to‐enzyme ratio is necessary for obtaining optimal and reproducible enantioselectivities, an observation which is important in future protein engineering of these mono‐oxygenases. An E. coli strain capable of NADPH regeneration was also engineered, simplifying directed evolution of P450 enzymes in general. These synthetic results set the stage for subsequent stereoselective and stereospecific chemical transformations to form more complex compounds, thereby illustrating the viability of combining genetically altered enzymes as catalysts in organic chemistry with traditional chemical methods.
Recurrent events after percutaneous closure of patent foramen ovale
Authors: Wallenborn Julia , Bertog Stefan C. , Franke Jennifer , Steinberg Daniel H. , Majunke Nicolas , Wilson Neil , Wunderlich Nina , Sievert Horst 
Published: June 2012

ObjectivesTo determine the incidence of symptomatic recurrent embolic events after patent foramen ovale (PFO) closure and potential causes for these events.BackgroundIt is well‐known that cerebral or other embolic events may occur after PFO closure.MethodsThis is a retrospective analysis of consecutive patients who underwent PFO closure for secondary prevention of embolic events at a single institution.Results1,930 patients (mean age of 50 ± 13.3 years) underwent transcatheter PFO closure. Complete closure occurred in 92%. The annual recurrence rate of embolic events before PFO closure was 22.4% (785 events in 3,497 patient‐years). During follow‐up (mean 39 months), 63 recurrent events were documented: 25 strokes, 36 transient ischemic attacks (TIAs), and 2 peripheral embolic events. The overall annual recurrence rate after the procedure was 1% per year (63 events in 6,211 patient‐years). The majority of events occurred in patients without residual shunts (54/63). There was no significant association between the presence of a residual shunt and recurrent events [hazard ratio (HR) 1.7; 95% confidence interval (CI) 0.8–3.6, P = 0.16]. The most common cause for recurrent events was atherosclerosis. Nine out of 63 events were considered likely or possible paradoxical embolism due to residual shunt [stroke (2), TIA (5), and peripheral embolism (2)]. After PFO closure, the annual rate of events potentially related to paradoxical embolism was 0.14% (9 events in 6,211 patient‐years).ConclusionThe incidence of symptomatic embolic events after PFO closure is low. Most recurrent events are related to coexistent conditions associated with thromboembolic risk rather than residual shunts. © 2012 Wiley Periodicals, Inc.
Ipsilateral arterial access for management of vascular complication in transcatheter aortic valve implantation
Authors: Frerker Christian , Schewel Dimitry , Kuck Karl‐Heinz , Schäfer Ulrich 
Published: June 2012

BackgroundTranscatheter aortic valve implantation (TAVI) requires appropriate vascular access. Access site complications remain an important clinical issue. We report a new access site technique for management of puncture site visualization, reduction in use of contrast dye, in addition to several treatment options for management of vascular complications.MethodsBetween August 2008 and November 2011, a total of 323 high‐risk patients underwent a TAVI procedure at our institution. A new ipsilateral double‐puncture technique was used in 189 patients. In case of any vascular complication the distal puncture was intentionally used for retrograde balloon blocking or stent implantation.ResultsOverall mortality at 30 days was 8.7%. The rate of a major vascular complication was 7.1% (standard group 6.7% vs. double access group 7.4%, P = 0.59), resulting in death within 30 days in the standard group in 55.6% as compared to 21.4% in the double access group (P = 0.10), respectively. There was a numerical lower rate of surgical repair within the double access group as compared with the standard group (3.7% vs. 2.1%, P = 0.38). Occurrence of minor vascular complication was higher in the double access group (7.5% vs. 22.2%, P < 0.05). The use of contrast dye was significant lower with the new approach (200.9 ± 94.7 ml vs. 156.6 ± 79.0 ml, P < 0.05), resulting to a significant reduction of acute kidney injury (13.4% vs. 8.5%, P < 0.05). Occurrence of acute kidney injury was associated with a significantly higher 30‐day mortality (20.6% vs. 7.3%, P < 0.05) irrespective of the puncture technique used.ConclusionThere was a significant reduction of acute kidney injury and contrast use with using the double access technique. The rate of minor vascular complication was higher within the double access group. In contrast, major vascular complication and subsequent surgical repair was numerically lower within the double access group. However, 30‐day mortality was statistically not different with using the double access technique. Performing a distal puncture to the principal access site serves as a safety net to economize the use of contrast dye and to maintain an open lumen for percutaneous treatment of a vascular complication. © 2012 Wiley Periodicals, Inc.
The Effects of Substituents and Solvents on the Ground‐State π‐Electronic Structure and Electronic Absorption Spectra of a Series of Model Merocyanine Dyes and Their Theoretical Interpretation
Authors: Mustroph Heinz , Reiner Knut , Senns Bianca , Mistol Jürgen , Ernst Steffen , Keil Dietmar , Hennig Lothar 
Published: June 2012

AbstractTwo series of new merocyanine dyes have been synthesised and the dependence of their electronic structure on substituents and solvents has been studied by NMR spectroscopy, by using both the NMR 13C chemical shifts between adjacent C atoms in the polymethine chain and the 3J(H,H) coupling constants for trans‐vicinal protons. The widely used valence bond (VB) model based on two contributing structures cannot account theoretically for the observed alternating π‐electron density in the polymethine chain. In addition, the prediction of zero‐π‐bond order alternation (or zero‐bond length alternation) by this model is also incorrect. However, the results are consistent with the predictions of a qualitative VB model which considers the resonance of a positive charge throughout the whole polymethine chain. Based on this model and the Franck‐Condon principle the effect of substituents and solvents on the fine structure of the electronic spectra of these dyes can be explained as vibronic transitions from the vibrational state v=0 to v′, where v is the vibrational quantum number of the totally symmetric CC valence vibration of the polymethine chain in the electronic ground state and v′ is that in the electronic excited state. In contrast, neither the effects of substituents or solvents on the electronic structure of merocyanines and their electronic spectra can be accounted for by the simple two state VB model.
Marilines A–C: Novel Phthalimidines from the Sponge‐Derived Fungus Stachylidium sp.
Authors: Almeida Celso , Hemberger Yasmin , Schmitt Sven Marcel , Bouhired Sarah , Natesan Lavanya , Kehraus Stefan , Dimas Konstantinos , Gütschow Michael , Bringmann Gerhard , König Gabriele M. 
Published: June 2012

AbstractA marine‐derived fungus of the genus Stachylidium was isolated from the sponge Callyspongia cf. C. flammea. Chemical investigation of the bioactive fungal extract led to the isolation of the novel phthalimidine derivatives marilines A1 (1 a), A2 (1 b), B (2), and C (3). The absolute configurations of the enantiomeric compounds 1 a and 1 b were assigned by a combination of experimental circular dichroism (CD) investigations and quantum chemical CD calculations. The skeleton of marilines is most unusual, and its biosynthesis is suggested to require uncommon biochemical reactions in fungal secondary metabolism. Both enantiomers, marilines A1 (1 a) and A2 (1 b), inhibited human leukocyte elastase (HLE) with an IC50 value of 0.86 μM.
ZnO/Liquid Crystalline Nanohybrids: From Properties in Solution to Anisotropic Growth
Authors: Saliba Sarmenio , Coppel Yannick , Mingotaud Christophe , Marty Jean‐Daniel , Kahn Myrtil L. 
Published: June 2012

AbstractBranched thermotropic liquid crystals (LCs) were successfully used as stabilizers for the synthesis of isotropic photoluminescent ZnO nanoparticles (NPs) in solution. 1H NMR spectroscopy and differential scanning calorimetry experiments demonstrate the existence of specific interactions between the LC and both the ZnO precursor and ZnO NPs. This offers the possibility for some branched molecules to act as structurally ordered hosts for the anisotropic growth of ZnO NPs.
Zeolite‐Supported Gold Nanoparticles for Selective Photooxidation of Aromatic Alcohols under Visible‐Light Irradiation
Authors: Zhang Xingguang , Ke Xuebin , Zhu Huaiyong 
Published: June 2012

AbstractWith new photocatalysts of gold nanoparticles supported on zeolite supports (Au/zeolite), oxidation of benzyl alcohol and its derivatives into the corresponding aldehydes can proceed well with a high selectivity (99 %) under visible‐light irradiation at ambient temperature. Au/zeolite photocatalysts were characterised by UV/Vis, X‐ray photoelectron spectroscopy (XPS), TEM, XRD, energy‐dispersive spectroscopy (EDS), Brauner–Emmet–Teller (BET) analyses, IR and Raman techniques. The surface plasmon resonance (SPR) effect of gold nanoparticles, the adsorption capability of zeolite supports and the molecular polarities of aromatic alcohols were demonstrated to have an essential correlation with the photocatalytic performances. In addition, the effects of light intensity, wavelength range and the role of molecular oxygen were investigated in detail. The kinetic study indicated that the visible‐light irradiation required much less apparent activation energy for photooxidation compared with thermal reaction. Based on the characterisation data and the photocatalytic performances, we proposed a possible photooxidation mechanism.
Chemical Components of Dendrobium chrysotoxum
Authors: Hu Jiangmiao , Fan Weiwei , Dong Fawu , Miao Zehong , Zhou Jun 
Published: June 2012

AbstractTwo new phenanthrenes, named chrysotoxols A and B (1, 2) and 24 known compounds were isolated from the stems of the accession species in 2010 Chinese Pharmacopoeia of "Shihu", Dendrobium chrysotoxum. All structures were elucidated by spectroscopic (NMR, MS, UV and IR) methods and the comparison with reported data in the literatures. Compound 2 and six known phenols were assessed for cytotoxic activity against two human tumor cell lines (A549 and HL‐60). The results indicated that erianin may have cytotoxic activity and the other six compounds lost activity at the concentration down to 10−5 mol·L−1.
Two New Cyclopeptides from Podocarpus nagi
Authors: Zhang Yi , Tang Chunping , Sob Sylvain Valère Tanemossu , Ke Changqiang , Ye Yang 
Published: June 2012

AbstractTwo new cyclopeptides, nagitides A and B, were isolated from the stem bark of Podocarpus nagi. Their structures were elucidated on the basis of NMR experiments including 1H‐1H COSY, HSQC, HMBC, ROESY, etc. This is the first report of cyclopeptides separated from this plant.
Sesquiterpenoids from Chloranthus spicatus
Authors: Yang Shengping , Chen Huadong , Yue Jianmin 
Published: June 2012

AbstractFive new sesquiterpenoids (1–5), namely chlospicates A–E (1–5), along with ten known sesquiterpenoids and three known sesquiterpenoid dimers, were isolated from the whole plant of Chloranthus spicatus. Their structures were elucidated on the basis of spectroscopic data.
Epigenetics and developmental plasticity across species
Authors: Champagne Frances A. 
Published: June 2012

AbstractPlasticity is a typical feature of development and can lead to divergent phenotypes. There is increasing evidence that epigenetic mechanisms, such as DNA methylation, are present across species, are modifiable by the environment, and are involved in developmental plasticity. Thus, in the context of the concept of developmental homology, epigenetic mechanisms may serve to create a process homology between species by providing a common molecular pathway through which environmental experiences shape development, ultimately leading to phenotypic diversity. This article will highlight evidence derived from across‐species investigations of epigenetics, development, and plasticity which may contribute to our understanding of the homology that exists between species and between ancestors and descendants. © 2012 Wiley Periodicals, Inc. Dev Psychobiol 55: 33–41, 2013.