bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
Authors: Abdelhamed Zakia A. , Natarajan Subaashini , Wheway Gabrielle , Inglehearn Christopher F. , Toomes Carmel , Johnson Colin A. , Jagger Daniel J. 
Published: April 2015

ABSTRACT
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67tm1Dgen/H1 knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects. The basal body/kinocilium complex was often uncoupled from the hair bundle, suggesting aberrant basal body migration, although planar cell polarity and apical planar asymmetry in the organ of Corti were normal. TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan receptor 2) upon stimulation with Wnt5a-conditioned medium. ROR2 also colocalises and interacts with TMEM67 at the ciliary transition zone. Additionally, the extracellular N-terminal domain of TMEM67 preferentially binds to Wnt5a in an in vitro binding assay. Cultured lungs of Tmem67 mutant mice failed to respond to stimulation of epithelial branching morphogenesis by Wnt5a. Wnt5a also inhibited both the Shh and canonical Wnt/β-catenin signalling pathways in wild-type embryonic lung. Pulmonary hypoplasia phenotypes, including loss of correct epithelial branching morphogenesis and cell polarity, were rescued by stimulating the non-canonical Wnt pathway downstream of the Wnt5a-TMEM67-ROR2 axis by activating RhoA. We propose that TMEM67 is a receptor that has a main role in non-canonical Wnt signalling, mediated by Wnt5a and ROR2, and normally represses Shh signalling. Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions.
The lysyl oxidase inhibitor β-aminopropionitrile reduces body weight gain and improves the metabolic profile in diet-induced obesity in rats
Authors: Miana María , Galán María , Martínez-Martínez Ernesto , Varona Saray , Jurado-López Raquel , Bausa-Miranda Belén , Antequera Alfonso , Luaces María , Martínez-González José , Rodríguez Cristina , Cachofeiro Victoria 
Published: April 2015

ABSTRACT
Extracellular matrix (ECM) remodelling of the adipose tissue plays a pivotal role in the pathophysiology of obesity. The lysyl oxidase (LOX) family of amine oxidases, including LOX and LOX-like (LOXL) isoenzymes, controls ECM maturation, and upregulation of LOX activity is essential in fibrosis; however, its involvement in adipose tissue dysfunction in obesity is unclear. In this study, we observed that LOX is the main isoenzyme expressed in human adipose tissue and that its expression is strongly upregulated in samples from obese individuals that had been referred to bariatric surgery. LOX expression was also induced in the adipose tissue from male Wistar rats fed a high-fat diet (HFD). Interestingly, treatment with β-aminopropionitrile (BAPN), a specific and irreversible inhibitor of LOX activity, attenuated the increase in body weight and fat mass that was observed in obese animals and shifted adipocyte size toward smaller adipocytes. BAPN also ameliorated the increase in collagen content that was observed in adipose tissue from obese animals and improved several metabolic parameters – it ameliorated glucose and insulin levels, decreased homeostasis model assessment (HOMA) index and reduced plasma triglyceride levels. Furthermore, in white adipose tissue from obese animals, BAPN prevented the downregulation of adiponectin and glucose transporter 4 (GLUT4), as well as the increase in suppressor of cytokine signaling 3 (SOCS3) and dipeptidyl peptidase 4 (DPP4) levels, triggered by the HFD. Likewise, in the TNFα-induced insulin-resistant 3T3-L1 adipocyte model, BAPN prevented the downregulation of adiponectin and GLUT4 and the increase in SOCS3 levels, and consequently normalised insulin-stimulated glucose uptake. Therefore, our data provide evidence that LOX plays a pathologically relevant role in the metabolic dysfunction induced by obesity and emphasise the interest of novel pharmacological interventions that target adipose tissue fibrosis and LOX activity for the clinical management of this disease.
Early intervention in thyroidectomy scars: demographics, symptoms, and prevention
Authors: Shin J.U. , Park J.H. , Oh S.H. , Jeong J.J. , Kang S. , Nam K. , Chung W.Y. , Lee J.H. 
Published: April 2015

Objective: Although hypertrophic scars are cosmetically problematic for patients following thyroidectomy, the associated risk factors are not well defined. Our objective was to determine the factors associated with hypertrophic scar development following thyroidectomy. Method: A retrospective chart review was performed collecting data on sex, age, body mass index (BMI), operation site, skin characteristics (pigmentation, erythema, elasticity, and hydration), and clinical scar characteristics (itching, tightening, induration, adhesion, and oedema). It was also noted if the patient had early scar intervention with intralesional steroid injection or non-ablative fractional laser irradiation, and preventive topical treatment agents. The effects of these factors were analysed using univariate and multivariate analyses. Results: Data from 1141 patients showed the incidence of hypertrophic scars was 13.9%. Significant variables in univariate analysis were combined for multivariate analysis. Young age, high BMI, itching, tightening, induration, and adhesion were associated with hypertrophic scar formation. Early scar intervention, as well as the use of preventive topical agents, were associated with decreased hypertrophic scar formation. Conclusion: Based on our results, we suggest that dermatologists consider using non-ablative fractional laser, intralesional steroid injection, and topical preventive agents to lower the incidence of hypertrophic scars, especially in young patients or those with high BMI and/or clinical symptoms such as itching, tightening, induration, and adhesion. Declaration of interest: The authors have no proprietary or commercial interest in any materials discussed in this article. The authors have no conflict of interest. This study was supported by a faculty research grant of Yonsei University College of Medicine for 2007 (6-2007-0142). This research was also supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science, and Technology (7-2010-0285, 7-2011-0203).
The role of video game experience in spatial learning and memory
Authors: de Castell Suzanne , Larios Hector , Jenson Jennifer , Smith David Harris 
Published: April 2015

Abstract
Video game playing has been associated with improvements in cognitive abilities that predict success in STEM fields, and therefore understanding this relationship is important. In two experiments, we used a virtual Morris Water Maze (VMWM) with and without proximal cues to measure spatial learning as a total of 82 video game experts and novices completed a search task across several trials. We measured the participants’ path lengths and tested their mental rotation abilities. The results showed that proximal cues improved overall performance. With no visible cues, experts exhibited better performance than novices when their memory for the general location of the platform was probed. With visible cues, video game experts travelled shorter path lengths than novices to the exact location of the hidden platform. Mental rotation ability correlated with overall maze performance only when no cues were visible, and only novices’ scores correlated with path length in this condition. These studies showed that the VMWM is a useful paradigm in examining how past video game experience influences human spatial cognition.
Game platforms and the evolution of cheating practices: An exploratory study
Authors: Consalvo Mia , Vazquez Irene Serrano 
Published: April 2015

Abstract
This article explores how Facebook as a game platform influences players’ gameplay, arguing that platforms shape play as well as cheating behaviours. Based on a player survey and follow-up qualitative interviews, it asks how players theorize cheating in such games relative to their existing social networks, Facebook’s Terms of Service, and the specific types of games prevalent on Facebook. It explores how these features shape players’ understandings of what constitutes cheating. It finds that platforms do influence how players define or imagine cheating in several ways, including the normalization of new payment models and gameplay mechanics, differences in how cheating is conceptualized by strangers versus friends and family, and how different terms of service can frame what counts as cheating.
Ouvir e dançar ritmos: Experimentos com metros da tragédia grega
Authors: Mota Marcus 
Published: April 2015

This paper presents some possible usus of the metrical information from Athenian dramatic texts. After metric scansion, these data are transformed into sound ?le. Then sound ?les are interpreted by dancers. By doing this, it's noticeable that how complex is performing ancient tragic texts when physical issues are connected to philological material. All textual exemples come from Aeschylus'Supplices.
Assessment of the Turkish Local e-Governments: An empirical study
Authors: Arslan Aykut 
Published: April 2015

In this research, we first evaluated the current practices of the Turkish local e-governments. Then, building upon an earlier study of local e-governments in Europe (Key Elements for Electronic Local Authorities’ Networks [KEeLAN], 2002), we compared the Turkish local e-government stages with their European counterparts to give a broader perspective. The basic framework focuses on the evaluation of current practices on the supply side (government), rather than the demand side (citizen). The emphasis of this research is on the evaluation of each web site in terms of nine basic public services (additional sub-services available) comprised of policy making, economic development, personal documents, credit and loans/financial support, education, building permits, environment, culture and leisure, and information dissemination. It is assumed that at least four of those services (randomly) are supplied in a local context among the Member Countries, including Turkey. We suggest the results might provide a deeper understanding of local e-governments in Turkey and lend support to advances in this under-researched area.
Microdistributions of stoneflies of the High Tatra
montane streams
Authors: Krno Iľja , Ciceková Jana , Rúfusová Andrea 
Published: April 2015

Abstract
Stonefly samples were collected from disturbed
and undisturbed tributaries of the Tatra Mountains streams
(the West Carpathians). In the autumn, at stable low
discharge, the total density of stoneflies was significantly
higher in the undisturbed streams. Microhabitats such as
macrolithal (boulders), mesolithal (stones) and moss had
higher stonefly density. Taxa of different species or genera
have different demands for microhabitats. Very narrow
spatial niches were found for the genera Rhabdiopteryx,
Protonemura and Perlodes. The spatial niche overlap was
low between the genera Rhabdiopteryx and Brachyptera,
but was high between species of the Protonemura and
Leucra genera. The highest biodiversity of stoneflies was
on coarser substrata (except boulders) and moss, the
lowest biodiversity was on the finer substrata. Among
the organic substrata, a significantly lower coefficient
of stonefly α-diversity variation was recorded in mosses
compared to submerged wood and roots.
Photochemical oxidation of N,N-bis- (tert-butoxycarbonyl)-1,4-dihydropyrazine derivatives
Authors: Tan Hong-bo , Song Xiu-qing , Yan Hong 
Published: April 2015

Abstract
The photochemical oxidation of N,N-Bis-(tert-butoxycarbonyl)-1,4-dihydropyrazines was investigated by irradiation using a medium-pressure mercury lamp. The main products were isolated, and their structures were determined by spectral methods and single crystal X-ray diffraction analysis. Photooxygenation is suggested to be a [2+2] cycloaddition reaction of oxygen to the double bond.
Primary hyperparathyroidism and Klinefelter's syndrome in a young man
Authors: Castellano E , Pellegrino M , Attanasio R , Guarnieri V , Maffè A , Borretta G 
Published: April 2015

Summary
We report the association of primary hyperparathyroidism (PHPT) and Klinefelter's syndrome (KS) in a 22-year-old male complaining of worsening fatigue. PHPT was asymptomatic at the diagnosis, but the patient had worsening hypercalcemia and osteoporosis, and developed acute renal colic. He then underwent parathyroidectomy with resection of a single adenoma and normalization of calcium and parathyroid hormone levels. Clinical and therapeutic implications of this rare association are discussed.

Learning points

The coexistence of KS and PHPT is very uncommon.

Patients with mild PHPT often have nonspecific symptoms that may be confused and superimposed with those of hypogonadism.

KS patients, especially when young and already osteoporotic at diagnosis, should be screened for other causes of secondary osteoporosis, in particular PHPT.
What Do You Mean, “Epigenetic”?
Authors: Deans Carrie , Maggert Keith A 
Published: April 2015

AbstractInterest in the field of epigenetics has increased rapidly over the last decade, with the term becoming more identifiable in biomedical research, scientific fields outside of the molecular sciences, such as ecology and physiology, and even mainstream culture. It has become increasingly clear, however, that different investigators ascribe different definitions to the term. Some employ epigenetics to explain changes in gene expression, others use it to refer to transgenerational effects and/or inherited expression states. This disagreement on a clear definition has made communication difficult, synthesis of epigenetic research across fields nearly impossible, and has in many ways biased methodologies and interpretations. This article discusses the history behind the multitude of definitions that have been employed since the conception of epigenetics, analyzes the components of these definitions, and offers solutions for clarifying the field and mitigating the problems that have arisen due to these definitional ambiguities.
The Genomic and Genetic Toolbox of the Teleost Medaka (Oryzias latipes)
Authors: Kirchmaier Stephan , Naruse Kiyoshi , Wittbrodt Joachim , Loosli Felix 
Published: April 2015

Abstract
The Japanese medaka, Oryzias latipes, is a vertebrate teleost model with a long history of genetic research. A number of unique features and established resources distinguish medaka from other vertebrate model systems. A large number of laboratory strains from different locations are available. Due to a high tolerance to inbreeding, many highly inbred strains have been established, thus providing a rich resource for genetic studies. Furthermore, closely related species native to different habitats in Southeast Asia permit comparative evolutionary studies. The transparency of embryos, larvae, and juveniles allows a detailed in vivo analysis of development. New tools to study diverse aspects of medaka biology are constantly being generated. Thus, medaka has become an important vertebrate model organism to study development, behavior, and physiology. In this review, we provide a comprehensive overview of established genetic and molecular-genetic tools that render medaka fish a full-fledged vertebrate system.
Reconstructing Past Admixture Processes from Local Genomic Ancestry Using Wavelet Transformation
Authors: Sanderson Jean , Sudoyo Herawati , Karafet Tatiana M , Hammer Michael F , Cox Murray P 
Published: April 2015

AbstractAdmixture between long-separated populations is a defining feature of the genomes of many species. The mosaic block structure of admixed genomes can provide information about past contact events, including the time and extent of admixture. Here, we describe an improved wavelet-based technique that better characterizes ancestry block structure from observed genomic patterns. principal components analysis is first applied to genomic data to identify the primary population structure, followed by wavelet decomposition to develop a new characterization of local ancestry information along the chromosomes. For testing purposes, this method is applied to human genome-wide genotype data from Indonesia, as well as virtual genetic data generated using genome-scale sequential coalescent simulations under a wide range of admixture scenarios. Time of admixture is inferred using an approximate Bayesian computation framework, providing robust estimates of both admixture times and their associated levels of uncertainty. Crucially, we demonstrate that this revised wavelet approach, which we have released as the R package adwave, provides improved statistical power over existing wavelet-based techniques and can be used to address a broad range of admixture questions.
Role of nanocrystalline domain size on the electrochemical double-layer capacitance of high edge density carbon nanostructures
Authors: Ubnoske Stephen M. , Raut Akshay S. , Parker Charles B. , Glass Jeffrey T. , Stoner Brian R. 
Published: April 2015

AbstractNanostructured carbon materials, especially activated carbon, carbon nanotubes, and graphene, have been widely studied for supercapacitor applications. To maximize the efficacy of these materials for electrochemical energy storage, a detailed understanding of the relationship between the nanostructure of these materials and their performance as supercapacitors is required. A fundamental structural parameter obtained from the Raman spectra of these materials, the in-plane correlation length or nanocrystalline domain size, is found to correlate with the electrochemical capacitance, regardless of other morphological features. This correlation for a common nanostructural characteristic is believed to be the first result of its kind to span several distinct nanostructured carbon morphologies, including graphene–carbon nanotubes hybrid materials, and may allow more effective nanoscale engineering of supercapacitor electrode materials.
Solution Composition Effects on the Dissolution of a CeO2 analogue for UO2 and ThO2 nuclear fuels
Authors: Corkhill Claire L. , Stennett Martin C. , Hyatt Neil C. 
Published: April 2015

ABSTRACTThis study investigates the dissolution of CeO2, an isostructural analogue for UO2 and ThO2, which was synthesized to closely approximate the microstructure of a spent nuclear fuel matrix. Dissolution of CeO2 particles was performed in simplified solutions representative of saline, near-neutral and alkaline ground waters that may be encountered in geological disposal scenarios, and in acidic medium for comparison. The normalized mass loss of cerium was found to be significantly influenced by the formation of colloidal particles, especially in the near-neutral and alkaline solutions investigated. The normalized dissolution rate, RL(Ce), k (g m-2 d-1), in these two solutions was found to be similar, but significantly lower than in a nitric acid medium. The activation energies based on the normalized release rate of cerium, at 40°C, 70°C and 90°C in each solution, were in the range of 24 ± 3 kJ mol-1 to 27 ± 7 kJ mol-1, indicative of a surface-mediated dissolution mechanism. The mechanism of dissolution was postulated to be similar in each of the solutions investigated, and further work is proposed to investigate the role of carbonate on the CeO2 dissolution mechanism.
Pore and mineral structure of rock using nano-tomographic imaging
Authors: Kuva Jukka , Voutilainen Mikko , Lindberg Antero , Parkkonen Joni , Siitari-Kauppi Marja , Timonen Jussi 
Published: April 2015

ABSTRACTIn order to better understand the micrometer-scale structure of rock and its transport properties which arise from it, seven monomineral samples from two sites (Olkiluoto and Sievi, Finland) were studied with micro- and nanotomography and scanning electron microscopy. From the veined gneiss of Olkiluoto we studied biotite, potassium feldspar, plagioclase (composition of oligoclase) and cordierite, and from Sievi tonalite biotite and two grains of plagioclase (albite). These minerals were the main minerals of these samples. Samples were carefully separated and selected using heavy liquid separation and stereomicroscopy, their three dimensional structure was imaged using X-ray tomography, and their precise mineral composition was determined using scanning electron microscopy and energy-dispersive X-ray spectroscopy (SEM/EDS). The micrometer-scale mineral structure of these samples was observed together with their pores and fissures, and alteration effects were identified whenever applicable. Nanotomography combined with SEM analysis was concluded to be a good tool for analyzing effects of alteration in monomineral samples.
Effects of CO2 on Carbon Nanotube Formation from Thermal Decomposition of Ethylene
Authors: Zhuo Chuanwei , Khanshan Fariba , West Richard , Richter Henning , Levendis Yiannis A. 
Published: April 2015

AbstractCatalytic chemical vapor deposition (CVD) is a popular method to synthesize carbon nanotubes (CNTs). At the presence of catalysts (usually trasition metals), the hydrocarbon feedstock decomposes controllably at elevated temperatures and can form tubular structures. It has been suggested that trace amounts of weak gas-phase oxidants, such as CO2, can enhance the CNT synthesis by extending the catatlyst life. It is not clear, however, how such additives affect the CVD reaction environment. In this study, ethylene gas was introduced to a preheated furnace/CVD reactor where meshes of stainless steel were placed. Therein ethylene was thermally decomposed in nitrogen mixed with different amounts of carbon dioxide. The meshes served as catalytic substrates for the CNT growth. The compositions of the ethylene pyrolyzates were analysed both with and without the presence of catalysts, to explore the possible contributions of CO2 addition to the CNT formation. The latter compositions were compared with kinetic model predictions of the thermal decomposition of ethylene. Both experimental and simulation results indicated that 1,3-butadiene (C4H6) was the most abundant hydrocarbon species of ethylene decomposition (at 800 °C) and that decomposition was inhibitted at the presence of CO2. A commesurate effect on CNT formation was observed experimentally, whereas the quality of CNTs got improved.