Miracle-dz/UniFAR-FTUs huggingface dataset:
Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of P raw = 4.759e-36 (genome-wide significant). Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.
Genetic and Non-genetic Predictors of LINE-1 Methylation in Leukocyte DNA

Background: Altered DNA methylation has been associated with various diseases. Objective: We evaluated the association between levels of methylation in leukocyte DNA at long interspersed nuclear element 1 (LINE-1) and genetic and non-genetic characteristics of 892 control participants from the Spanish Bladder Cancer/EPICURO study. Methods: We determined LINE-1 methylation levels by pyrosequencing. Individual data included demographics, smoking status, nutrient intake, toenail concentrations of 12 trace elements, xenobiotic metabolism gene variants, and 515 polymorphisms among 24 genes in the one-carbon metabolism pathway. To assess the association between LINE-1 methylation levels (percentage of methylated cytosines) and potential determinants, we estimated beta coefficients (βs) by robust linear regression. Results: Women had lower levels of LINE-1 methylation than men (β = –0.7, p = 0.02). Persons who smoked blond tobacco showed lower methylation than nonsmokers (β = –0.7, p = 0.03). Arsenic toenail concentration was inversely associated with LINE-1 methylation (β = –3.6, p = 0.003). By contrast, iron (β = 0.002, p = 0.009) and nickel (β = 0.02, p = 0.004) were positively associated with LINE-1 methylation. Single nucleotide polymorphisms (SNPs) in DNMT3A (rs7581217-per allele, β = 0.3, p = 0.002), TCN2 (rs9606756-GG, β = 1.9, p = 0.008; rs4820887-AA, β = 4.0, p = 4.8 × 10–7; rs9621049-TT, β = 4.2, p = 4.7 × 10–9), AS3MT (rs7085104-GG, β = 0.7, p = 0.001), SLC19A1 (rs914238, TC vs. TT: β = 0.5 and CC vs. TT: β = –0.3, global p = 0.0007) and MTHFS (rs1380642, CT vs. CC: β = 0.3 and TT vs. CC; β = –0.8, global p = 0.05) were associated with LINE-1 methylation. Conclusions: We identified several characteristics, environmental factors, and common genetic variants that predicted DNA methylation among study participants.
Effect of Surface Roughness on Single Cryogen Droplet Spreading

Cryogen spray cooling (CSC) is an auxiliary procedure to dermatologic laser surgery which consists of pre-cooling the superficial skin layer (epidermis) during laser irradiation of subsurface targets to avoid non-specific epidermal thermal damage. While previous studies have investigated the interaction of cryogen sprays with microscopically smooth human skin models, it is important to recognize that real human skin surface is far from smooth. With the objective to provide physical insight into the interaction between cryogen sprays and human skin, we study the effect of surface roughness on the impact dynamics of single cryogen droplets falling on skin models of various roughnesses (0.5 μm to 70 μm). We first develop a theoretical model to predict the maximum spread diameter (Dm) following droplet impingement based on a similarity approximation to the solution of a viscous boundary-layer that incorporates friction as the major source of viscous dissipation on a rough surface. Then, we measure droplet Submitted for Publication to Journal of Fluids Engineering ASME Transactions ACCEPTED FOR PUBLICATION, FINAL VERSION 10/8/2007 2 diameter, impact velocity and Dm of cryogen droplets falling by gravity onto skin models. Experimental data prove that the proposed model predicts Dm with good accuracy, suggesting that the effects of surface roughness and friction on Dm are properly taken into account for the range of surface roughness studied herein.
Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II

In neurodegenerative disorders associated with primary or secondary mitochondrial defects such as Huntington's disease (HD), cells of the striatum are particularly vulnerable to cell death, although the mechanisms by which this cell death is induced are unclear. Dopamine, found in high concentrations in the striatum, may play a role in striatal cell death. We show that in primary striatal cultures, dopamine increases the toxicity of an N-terminal fragment of mutated huntingtin (Htt-171-82Q). Mitochondrial complex II protein (mCII) levels are reduced in HD striatum, indicating that this protein may be important for dopamine-mediated striatal cell death. We found that dopamine enhances the toxicity of the selective mCII inhibitor, 3-nitropropionic acid. We also demonstrated that dopamine doses that are insufficient to produce cell loss regulate mCII expression at the mRNA, protein and catalytic activity level. We also show that dopamine-induced down-regulation of mCII levels can be blocked by several dopamine D2 receptor antagonists. Sustained overexpression of mCII subunits using lentiviral vectors abrogated the effects of dopamine, both by high dopamine concentrations alone and neuronal death induced by low dopamine concentrations together with Htt-171-82Q. This novel pathway links dopamine signaling and regulation of mCII activity and could play a key role in oxidative energy metabolism and explain the vulnerability of the striatum in neurodegenerative diseases.
A Proposed Framework for Effective Mobile Services Acceptance Factors

In recent years, the advancement of Information and Communication Technologies (ICTs) and particularly rapid changes of mobile technologies lead to new applications and services development. Furthermore, the possibility of mobile service (m-services) delivery will change its current applications. Therefore, it is important to identify the most important user’s acceptance of m- services. This paper proposed a framework for identification of m-services acceptance factors based on technology acceptance models. The factors were analyzed with path analysis method for validity assessment.
Query-based extracting: how to support the answer?

Human-made query-based summaries commonly contain information not explicitly asked for. They answer the user query, but also provide supporting information. In order to find this information in the source text, a graph is used to model the strength and type of relations between sentences of the query and document cluster, based on various features. The resulting extracts rank second in overall readability in the DUC 2006 evaluation. Employment of better question answering methods is the key to improve also content-based evaluation results.
Authorization and Certificates : Are We Pushing When We Should Be Pulling ?

Certificates have long been used to bind authorization information to an identity or public key. Essentially there ar two ways in which a verifying authority (reference monitor) can obtain the information (from a certificate) that is required to make an access control decision: the requesting entity provides the privilege attributes to the verifying a uthority – a ‘push’ model; or the verifying authority obtains the privilege attributes from a trusted repository – a ‘pull ’ model. In this paper we argue that a push model, which is used by most certificate-based authorization mechanisms, is inferior to a pull model, and present an architecture base d on the pull model.
A Review of Eye Gaze in Virtual Agents, Social Robotics and HCI: Behaviour Generation, User Interaction and Perception

A person's emotions and state of mind are apparent in their face and eyes. As a Latin proverb states: ‘The face is the portrait of the mind; the eyes, its informers’. This presents a significant challenge for Computer Graphics researchers who generate artificial entities that aim to replicate the movement and appearance of the human eye, which is so important in human–human interactions. This review article provides an overview of the efforts made on tackling this demanding task. As with many topics in computer graphics, a cross‐disciplinary approach is required to fully understand the workings of the eye in the transmission of information to the user. We begin with a discussion of the movement of the eyeballs, eyelids and the head from a physiological perspective and how these movements can be modelled, rendered and animated in computer graphics applications. Furthermore, we present recent research from psychology and sociology that seeks to understand higher level behaviours, such as attention and eye gaze, during the expression of emotion or during conversation. We discuss how these findings are synthesized in computer graphics and can be utilized in the domains of Human–Robot Interaction and Human–Computer Interaction for allowing humans to interact with virtual agents and other artificial entities. We conclude with a summary of guidelines for animating the eye and head from the perspective of a character animator.
Unions and Upward Mobility for Latino Workers

This report uses national data from 2004 to 2007 to show that unionization raises the wages of the typical Latino worker by 17.6 percent compared to their non-union peers. The study goes on to show that unionization also increases the likelihood that a Latino worker will have health insurance and a pension.
Prevalence of Drug Resistance-Associated Gene Mutations in Plasmodium vivax in Central China

Resistance of Plasmodium spp. to anti-malarial drugs is the primary obstacle in the fight against malaria, and molecular markers for the drug resistance have been applied as an adjunct in the surveillance of the resistance. In this study, we investigated the prevalence of mutations in pvmdr1, pvcrt-o, pvdhfr, and pvdhps genes in temperate-zone P. vivax parasites from central China. A total of 26 isolates were selected, including 8 which were previously shown to have a lower susceptibility to chloroquine in vitro. For pvmdr1, pvcrt-o, and pvdhps genes, no resistance-conferring mutations were discovered. However, a highly prevalent (69.2%), single-point mutation (S117N) was found in pvdhfr gene. In addition, tandem repeat polymorphisms existed in pvdhfr and pvdhps genes, which warranted further studies in relation to the parasite resistance to antifolate drugs. The study further suggests that P. vivax populations in central China may still be relatively susceptible to chloroquine and sulfadoxine-pyrimethamine.
Isolation and Characterization of vicH, Encoding a New Pleiotropic Regulator in Vibrio cholerae

ABSTRACT During the last decade, the hns gene and its product, the H-NS protein, have been extensively studied in Escherichia coli. H-NS-like proteins seem to be widespread in gram-negative bacteria. However, unlike in E. coli and inSalmonella enterica serovar Typhimurium, little is known about their role in the physiology of those organisms. In this report, we describe the isolation of vicH, an hns-like gene in Vibrio cholerae, the etiological agent of cholera. This gene was isolated from a V. cholerae genomic library by complementation of different phenotypes associated with anhns mutation in E. coli. It encodes a 135-amino-acid protein showing approximately 50% identity with both H-NS and StpA in E. coli. Despite a low amino acid conservation in the N-terminal part, VicH is able to cross-react with anti-H-NS antibodies and to form oligomers in vitro. ThevicH gene is expressed as a single gene from two promoters in tandem and is induced by cold shock. A V. choleraewild-type strain expressing a vicHΔ92 gene lacking its 3′ end shows pleiotropic alterations with regard to mucoidy and salicin metabolism. Moreover, this strain is unable to swarm on semisolid medium. Similarly, overexpression of the vicH wild-type gene results in an alteration of swarming behavior. This suggests that VicH could be involved in the virulence process in V. cholerae, in particular by affecting flagellum biosynthesis.
A language for shading and lighting calculations

A shading language provides a means to extend the shading and lighting formulae used by a rendering system. This paper discusses the design of a new shading language based on previous work of Cook and Perlin. This language has various types of shaders for light sources and surface reflectances, point and color data types, control flow constructs that support the casting of outgoing and the integration of incident light, a clearly specified interface to the rendering system using global state variables, and a host of useful built-in functions. The design issues and their impact on the implementation are also discussed.
Protein Ligation: Applications in NMR Studies of Proteins

One of the ultimate goals of structural biology is to understand how proteins exerttheir functions at atomic resolution in order to modulate their activities for applicationssuch as drug discovery. Nuclear Magnetic Resonance (NMR) spectroscopy isincreasingly becoming an important method for characterizing the three-dimensionalstructure of proteins under near physiological conditions. NMR is not only a powerfulmethod for elucidating the three-dimensional structures of proteins in aqueous solution,but also a convenient method for studying protein-ligand interactions as well as proteindynamics. NMR studies, however, require the assignment of individual signals toindividual NMR-active atoms in proteins. This so-called resonance assignment ofproteins can be a time-consuming and laborious process. In addition, the number ofNMR signals increases proportionally to the molecular size of the proteins. Therefore,NMR studies of larger proteins are increasingly time-consuming and challenging.The use of stable isotopes such as
Genetic Diversity and Relatedness of Sweet Cherry (Prunus Avium L.) Cultivars Based on Single Nucleotide Polymorphic Markers

Most previous studies on genetic fingerprinting and cultivar relatedness in sweet cherry were based on isoenzyme, RAPD, and simple sequence repeat (SSR) markers. This study was carried out to assess the utility of single nucleotide polymorphism (SNP) markers generated from 3′ untranslated regions (UTR) for genetic fingerprinting in sweet cherry. A total of 114 sweet cherry germplasm representing advanced selections, commercial cultivars, and old cultivars imported from different parts of the world were screened with seven SSR markers developed from other Prunus species and with 40 SNPs obtained from 3′ UTR sequences of Rainier and Bing sweet cherry cultivars. Both types of marker study had 99 accessions in common. The SSR data was used to validate the SNP results. Results showed that the average number of alleles per locus, mean observed heterozygosity, expected heterozygosity, and polymorphic information content values were higher in SSRs than in SNPs although both set of markers were similar in their grouping of the sweet cherry accessions as shown in the dendrogram. SNPs were able to distinguish sport mutants from their wild type germplasm. For example, “Stella” was separated from “Compact Stella. ” This demonstrates the greater power of SNPs for discriminating mutants from their original parents than SSRs. In addition, SNP markers confirmed parentage and also determined relationships of the accessions in a manner consistent with their pedigree relationships. We would recommend the use of 3′ UTR SNPs for genetic fingerprinting, parentage verification, gene mapping, and study of genetic diversity in sweet cherry.
Quasi-Orthogonal Design and Performance Analysis of Amplify-And-Forward Relay Networks with Multiple-Antennas

This paper is on the design and performance analysis of practical distributed space-time codes for wireless relay networks with multiple antennas terminals. The amplify-andforward scheme is used in a way that each relay transmits a scaled version of the linear combination of the received symbols. We propose distributed generalized quasi-orthogonal space-time codes which are distributed among the source antennas and relays, and valid for any number of relays. Assuming M-PSK and M-QAM signals, we derive a formula for the symbol error probability of the investigated scheme over Rayleigh fading channels. For sufficiently large SNR, this paper derives closed-form average SER expression. The simplicity of the asymptotic results provides valuable insights into the performance of cooperative networks and suggests means of optimizing them. Our analytical results have been confirmed by simulation results, using full-rate full-diversity distributed codes.
Increased Intake of Selected Vegetables, Herbs and Fruit may Reduce Bone Turnover in Post-Menopausal Women

Increased consumption of vegetables/herbs/fruit may reduce bone turnover and urinary calcium loss in post-menopausal women because of increased intake of polyphenols and potassium, but comparative human studies are lacking. The main aim was to compare bone turnover markers and urinary calcium excretion in two randomised groups (n = 50) of healthy post-menopausal women consuming ≥9 servings of different vegetables/herbs/fruit combinations (three months). Group A emphasised a generic range of vegetables/herbs/fruit, whereas Group B emphasised specific vegetables/herbs/fruit with bone resorption-inhibiting properties (Scarborough Fair Diet), with both diets controlled for potential renal acid load (PRAL). Group C consumed their usual diet. Plasma bone markers, urinary electrolytes (24 h) and estimated dietary PRAL were assessed at baseline and 12 weeks. Procollagen type I N propeptide (PINP) decreased (−3.2 μg/L, p < 0.01) in the B group only, as did C-terminal telopeptide of type I collagen (CTX) (−0.065 μg/L, p < 0.01) in women with osteopenia compared to those with normal bone mineral density (BMD) within this group. Intervention Groups A and B had decreased PRAL, increased urine pH and significantly decreased urinary calcium loss. Urinary potassium increased in all groups, reflecting a dietary change. In conclusion, Group B demonstrated positive changes in both turnover markers and calcium conservation.
Verifiable Programming of Object-Oriented and Distributed Systems

Distributed and concurrent object-oriented systems are difficult to analyze due to the complexity of their concurrency, communication, and synchronization mechanisms. This paper explores a programming paradigm based on active, concurrent objects communicating by so-called asynchronous method calls giving rise to efficient interaction by means of non-blocking method calls, implemented by means of message passing. The paradigm facilitates invariant specifications over the locally visible communication history of each class. Compositional reasoning is supported by rules comparable to those of sequential programming, and global properties may be derived from local specifications. Reasoning about inheritance is not limited by behavioral subtyping, but allowing free reuse of code, considering also multiple inheritance. A small, illustrating example is considered.
Trends in the Development of Machinery and Associated Technology ” TMT 2009 , Hammamet , Tunisia , 16-21 October 2009 R & D EXPENDITURE ACROSS COUNTRIES AND SECTORS

R&D activities are often considered as being a main driver of economic development, innovation and growth. They comprise creative work undertaken systematically with a view to increasing the stock of knowledge, including knowledge of man, culture and society, and the use of this stock of knowledge to devise new applications (Eurostat, 2008: 30). Today innovation performance is a crucial determinant of competitiveness and national progress. For a small country like Croatia Government policy play direct role in fostering innovation across the public investment in biomedicine, manufacturing and innovation research. The literature has convincingly shown that the impact of current R&D on current productivity depends crucially on past R&D. This paper illustrates some recent trend patterns in the Croatia concerning R&D intensity, taking the 3% Barcelona target and the EU average as a benchmark. The objective of this paper is analyzing influence of public R&D and businesses R&D in Croatia on its economic growth. In general, Croatia is still in a process of transition, industrial restructuring and integration into the EU economy. In fact, getting closer to the existing European frontiers in terms of technology, R&D and innovation is quite challenging at national level. This paper presents different indicators, illustrating the increasing importance and the different characteristics of R&D expenditure across countries and sectors.
The Magnitude and Correlates of Inter-Vivos Transfers in the UK

This paper uses data from the British Household Panel Survey and the Attitudes to Inheritances Survey to estimate the magnitude of and the factors that are correlated with private inter-household transfers from parents to their adult children in the UK. Our evidence suggests that inter vivos transfers in the UK are fairly common although regular financial transfers may be less so. AIS suggests an aggregate value of all gifts received so far in people's lifetimes of around £83 billion in 2004. This is about one tenth of the aggregate value of inheritances reported to the same survey, or about 2.3 per cent of total wealth at the time. One section of BHPS implies an annual flow of parental transfers of only around £1.1 billion, or 4 per cent of the flow of inheritances, but other parts of the same survey imply a much greater prevalence of transfers. It appears that none of the available datasets captures the whole picture. Consistently, however, the surveys suggest that financial transfers are negatively associated with age and the income of the recipient indicating that parental transfers are reach children when help is most needed, and most for those with greater needs. However, it is the parents with greater resources who are able to do this, meaning that the process tends to reinforce intergenerational links.
Cyprus and international peacemaking

Mediation and the UN the origins of the Cyprus problem, from independence to 1964 the UN's attempts at mediation, 1964-5 international peacekeeping in Cyprus, 1965-1974 international peacekeeping in Cyprus 1974-1980 external powers and international peacekeeping in Cyprus 1974-1980 international peacekeeping 1980-86.