Miracle-dz/UniFAR-FTUs huggingface dataset:
A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle

Historically, dwarfism was the major genetic defect in U.S. beef cattle. Aggressive culling and sire testing were used to minimize its prevalence; however, neither of these practices can eliminate a recessive genetic defect. We assembled a 4-generation pedigree to identify the mutation underlying dwarfism in American Angus cattle. An adaptation of the Elston-Steward algorithm was used to overcome small pedigree size and missing genotypes. The dwarfism locus was fine-mapped to BTA6 between markers AFR227 and BM4311. Four candidate genes were sequenced, revealing a nonsense mutation in exon 15 of cGMP-dependant type II protein kinase (PRKG2). This C/T transition introduced a stop codon (R678X) that truncated 85 C-terminal amino acids, including a large portion of the kinase domain. Of the 75 mutations discovered in this region, only this mutation was 100% concordant with the recessive pattern of inheritance in affected and carrier individuals (log of odds score = 6.63). Previous research has shown that PRKG2 regulates SRY (sex-determining region Y) box 9 (SOX9)-mediated transcription of collagen 2 (COL2). We evaluated the ability of wild-type (WT) or R678X PRKG2 to regulate COL2 expression in cell culture. Real-time PCR results confirmed that COL2 is overexpressed in cells that overexpressed R678X PRKG2 as compared with WT PRKG2. Furthermore, COL2 and COL10 mRNA expression was increased in dwarf cattle compared with unaffected cattle. These experiments indicate that the R678X mutation is functional, resulting in a loss of PRKG2 regulation of COL2 and COL10 mRNA expression. Therefore, we present PRKG2 R678X as a causative mutation for dwarfism cattle.
Improving Sediment Transport Prediction by Assimilating Satellite Images in a Tidal Bay Model of Hong Kong

Numerical models being one of the major tools for sediment dynamic studies in complex coastal waters are now benefitting from remote sensing images that are easily available for model inputs. The present study explored various methods of integrating remote sensing ocean color data into a numerical model to improve sediment transport prediction in a tide-dominated bay in Hong Kong, Deep Bay. Two sea surface sediment datasets delineated from satellite images from the Moderate Resolution Imaging Spectra-radiometer (MODIS) were assimilated into a coastal ocean model of the bay for one tidal cycle. It was found that remote sensing sediment information enhanced the sediment transport model ability by validating the model results with in situ measurements. Model results showed that root mean square errors of forecast sediment both at the surface layer and the vertical layers from the model with satellite sediment assimilation are reduced by at least 36% over the model without assimilation.
Integrated care for patients with a stroke in the Netherlands: results and experiences from a national Breakthrough Collaborative Improvement project

Abstract Purpose This article considers the question if measurable improvements are achieved in the quality of care in stroke services by using a Breakthrough collaborative quality improvement model. Context of case Despite the availability of explicit criteria, evidence based guidelines, national protocols and examples of best practices; stroke care in the Netherlands did not improve substantially yet. For that reason a national collaborative started in 2002 to improve integrated stroke care in 23 self selected stroke services. Data sources Characteristics of sites, teams, aims and changes were assessed by using a questionnaire and monthly self-reports of teams. Progress in achieving significant quality improvement has been assessed on a five point Likert scale (IHI score). Case description The stroke services (n=23) formed multidisciplinary teams, which worked together in a collaborative based on the IHI Breakthrough Series Model. Teams received instruction in quality improvement, reviewed self reported performance data, identified bottlenecks and improvement goals, and implemented “potentially better practices” based on criteria from the Edisse study, evidence based guidelines, own ideas and expert opinion. Conclusion and discussion Quality of care has been improved in most participating stroke services. Eighty-seven percent of the teams have improved their care significantly on at least one topic. About 34% of the teams have achieved significant improvement on all aims within the time frame of the project. The project has contributed to the further development and spread of integrated stroke care in the Netherlands.
Local and holistic texture analysis approach for face recognition

In this paper, we present a new framework for face recognition under varying illumination based on DCT total variation minimization (DTV), gabor filter, a sub-micro pattern analysis (SMP) and discriminant accumulative feature transform (DAFT). We first suppress the illumination effect by using the DCT with the helps of TV as a tool for face normalization. The DTV image is then emphasized by the gabor filter. The facial features are encoded by our proposed method, the SMP. The SMP image is then transformed to the 2D histogram by using DAFT. Our system is verified with experiments on the AR and the Yale face database B.
Additive and Synergetic Contributions of Neuroticism and Life Events to Depression and Anxiety in Women

In this genetically informative and longitudinal study of women, we investigated the nature of individual differences in tendencies to depression (TD) and anxiety (TA) as well as in the probability to develop unipolar mood disorders (UMDs), anxiety disorders (ADs) or both. Specifically, we examined the roles of neuroticism, negative and positive life events and their interplay as heritable and environmental factors of variance in TD and TA. Cross–sectional data from a total of 1200 women including 232 patients (suffering from UMDs and/or ADs) and longitudinal data from 630 female twins including 260 complete pairs were analysed. The analyses yielded that variance in neuroticism mediated the vast majority of the genetic variance in both TD (about 85–90%) and TA (about 70–75%). Negative life events additionally contributed as risk factors accounting for common and specific environmental variance in both TD and TA, whereas positive life events only acted as protective factors in the case of TD. Moreover, TD but not TA was associated with both the probability of exposure and the sensitivity to negative life events and a negative life–event balance (i.e. more negative than positive experiences). The results were discussed within the framework of additive, dynamic and synergetic diathesis–stress models. Copyright © 2016 European Association of Personality Psychology
Operating-system directed power reduction

This paper presents a new approach for power reduction by taking a global, software-centric view. It analyzes the sources of power consumption: tasks that require services from hardware components. When a component is not used by any task, it can enter a sleeping state to save power. Operating systems have detailed information about tasks; therefore, OS is the best place for power reduction. Our technique is effective in identifying hardware idleness and shutting down unused components. We implement this technique in Linux and show that it can save more than 50% power compared to traditional hardware-centric shutdown techniques.
Early Hypothalamic FTO Overexpression in Response to Maternal Obesity – Potential Contribution to Postweaning Hyperphagia

Background Intrauterine and postnatal overnutrition program hyperphagia, adiposity and glucose intolerance in offspring. Single-nucleotide polymorphisms (SNPs) of the fat mass and obesity associated (FTO) gene have been linked to increased risk of obesity. FTO is highly expressed in hypothalamic regions critical for energy balance and hyperphagic phenotypes were linked with FTO SNPs. As nutrition during fetal development can influence the expression of genes involved in metabolic function, we investigated the impact of maternal obesity on FTO. Methods Female Sprague Dawley rats were exposed to chow or high fat diet (HFD) for 5 weeks before mating, throughout gestation and lactation. On postnatal day 1 (PND1), some litters were adjusted to 3 pups (vs. 12 control) to induce postnatal overnutrition. At PND20, rats were weaned onto chow or HFD for 15 weeks. FTO mRNA expression in the hypothalamus and liver, as well as hepatic markers of lipid metabolism were measured. Results At weaning, hypothalamic FTO mRNA expression was increased significantly in offspring of obese mothers and FTO was correlated with both visceral and epididymal fat mass (P<0.05); body weight approached significance (P = 0.07). Hepatic FTO and Fatty Acid Synthase mRNA expression were decreased by maternal obesity. At 18 weeks, FTO mRNA expression did not differ between groups; however body weight was significantly correlated with hypothalamic FTO. Postnatal HFD feeding significantly reduced hepatic Carnitine Palmitoyltransferase-1a but did not affect the expression of other hepatic markers investigated. FTO was not affected by chronic HFD feeding. Significance Maternal obesity significantly impacted FTO expression in both hypothalamus and liver at weaning. Early overexpression of hypothalamic FTO correlated with increased adiposity and later food intake of siblings exposed to HFD suggesting upregulation of FTO may contribute to subsequent hyperphagia, in line with some human data. No effect of maternal obesity was observed on FTO in adulthood.
Is there only one way of project management theorizing, or are there multiple sector-specific project management domains?

Purpose Many literature reviews on project management (PM) research are limited to studies published only in PM journals but some reviews do expand their analysis on PM research published also in journals belonging to the management studies field. However, the authors found no previous literature reviews comparing the PM content in different sectors outside the management studies field. Therefore, the analysis and findings of PM content derived from the sector-specific engineering and technology-focused journals are new. The paper aims to discuss this issue. Design/methodology/approach The authors analyze PM content in nine different sectors, where each sector and its inherent research is connected to specific engineering, technological, or industry-related disciplines. The authors conduct an evidence-informed literature review on PM knowledge in the distinct literatures of these nine sectors. The period of analysis is 24 years from 1986-2009. The authors discuss potential consequences of the findings’ sector-specificity for future PM domain development. Findings The perspective on different origins of PM leads to a meta-level PM concept covering several different PM domains, each with its own sector specific and separated development path. Research limitations/implications The literature analysis purposefully excluded PM journals and management studies, and the authors focused only on sector-specific engineering and technology-focused journals that represent knowledge and wisdom of different PM contents in nine sectors. Practical implications The findings have significant potential to contribute to scholarly discussion on the development of a universal PM theory. For applicability across sectors, the authors suggest a modular PM theory with different sector-specific modules for knowledge, concepts, and underlying assumptions. Originality/value Currently, this discussion has been mainly focused on theorizing concepts and approaches in management studies only. This study expands the understanding to engineering and technology-focused journals across nine industry sectors/domains.
Perfect hashing, graph entropy, and circuit complexity

It is shown that approximate compaction can be efficiently performed in constant parallel time using perfect hash functions. This allows it to be shown that polylogarithmic-threshold functions are in linear AC/sup o/. Next, it is shown that the information-theoretic notion of graph entropy captures some aspect of the difficulty of computing Boolean functions. This is used to derive superlinear lower bounds on the formula size of threshold and other simple Boolean functions. <<ETX>>
PENGARUH HEDONIC SHOPPING MOTIVATION TERHADAP IMPULSE BUYING MELALUI POSITIVE EMOTION CUSTOMER FLASHYSHOP

The purpose of this research is to find out the direct influence of hedonic shopping motivation to the impulse buying or mediated by the positive emotion. The populations in this research are the customers of Flashy Shop Surabaya. The samples collection technique is carried out by using accidental sampling and 100 people have been chosen as samples. The path analysis method is used as the analysis technique in this research. The result of test shows that the influence of hedonic shopping motivation and positive emotion each of them has significant influence to the impulse buying. Likewise the influence of hedonic shopping motivation to the positive emotion shows significant influence. It can be concluded that hedonic shopping motivation has direct influence to the impulse buying or indirect influence through positive emotion as the intervening variable then it influences the impulse buying (the customer purchasing process who tends to be spontaneously and instantly without any preparation) can be influenced by Hedonic shopping value (the buying potency and customer emotion value in buying) and the influence will be stronger when it is added by positive emotion variable. Keywords: Hedonic Shopping Value, Positive Emotion, Impulse Buying
RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner

ABSTRACT RPGR (retinitis pigmentosa GTPase regulator) is a ciliary protein associated with several forms of inherited retinal degenerative diseases. PDE6D is a ubiquitously expressed prenyl-binding protein and involved in ciliary targeting of prenylated proteins. The current working model for the RPGR function depicts that RPGR acts as a scaffold protein to recruit cargo-loaded PDE6D to primary cilia. Here, we present evidence demonstrating an alternative relationship between RPGR and PDE6D, in which RPGR is a cargo of PDE6D for ciliary targeting. We found that the constitutive isoform of RPGR, which is prenylated, requires prenylation for its ciliary localization. We also found that there are at least two independent ciliary targeting signals in RPGR: one within the N-terminal region that contains the RCC1-like domain and the other near the prenylation site at the C-terminus. Ablation of PDE6D blocked ciliary targeting of RPGR. Our study indicates that prenylated RPGR is one of the cargos of PDE6D for ciliary trafficking and provides insight into the mechanisms by which RPGR is targeted to cilia. Summary: RPGR is a ciliary protein that functions as a scaffold to recruit cargo-loaded PDE6D to cilia. Our study shows that RPGR is also a cargo of PDE6D.
Link-Layer Jamming Attack against the Wireless Sensor Network LMAC Protocol and Countermeasure

While Wireless Sensor Networks (WSN) are becoming more technologically and economically feasible it is important for these systems to be robust in order to make an investment in a WSN worthwhile. At present, WSN’s are particularly sensitive to DoS attacks on the physical and data link layer. A strategy to attack LMAC [5] as proposed by Law et al. [3] is given, implemented and demonstrated on the AmbientRT μNode platform. Next a strategy to defend against these kinds of attacks is proposed, implemented and demonstrated.
Bluefield (KDE TUT) at LifeCLEF 2016 Plant Identification Task

In this paper, we propose an automatic approach for plant image identification. We enhanced the well-known VGG 16-layers Convolutional Neural Network model [1] by replacing the last pooling layer with a Spatial Pyramid Pooling layer [2]. Rectified Linear Units (ReLU) are also replaced with Parametric ReLUs [3]. The enhanced model is trained without external dataset. A post processing method is also proposed to reject irrelevant samples. We further improved identification performance using observation identity (ObservationId) provided in the dataset. Our methods showed outstanding performance in official evaluation results of the LifeCLEF 2016 Plant Identification Task.
Based on Machine Learning of Data Mining to Further Explore

Machine learning and data mining is a powerful tool of the analysis of massive data, is emerging interdisciplinary of computer science and statistics, which plays an important role in the front field of modern science and technology. Introduction of machine learning information technology, further expounds the contact of the machine learning and data mining. Stratified discusses the meaning of data mining, in view of the different professions and different areas, points out how to use the data mining technology, give play to the role of machine learning. The emphasis is on data gathered information, use data information, and development data information resources.
Immune profile of squamous metaplasia development in autoimmune regulator-deficient dry eye

Purpose Squamous metaplasia of the ocular surface epithelium in severe Sjögren syndrome (SS) dry eye has been implicated to be associated with chronic engagement of immune-mediated inflammation. While the detailed immunopathological mechanism underlying keratinization of the ocular muco-epithelium in this setting remains unclear, mice deficient in the autoimmune regulator gene (Aire) demonstrate SS-like pathological changes in the exocrine organs and ocular surface including squamous metaplasia. Using this murine model, we sought to determine the specific immune events that predict squamous metaplasia of the cornea in Aire deficiency. Methods Lissamine green staining, goblet cell density, and corneal small proline-rich protein 1B (SPRR1B) were compared in Aire-sufficient and -deficient mice at 4, 8, and 16 weeks of age. Corneal, limbal and conjunctival infiltration of CD4+ and CD8+ T cells as well as CD11c+ and MHC class II (I-Ad+) dendritic cells (DCs) were examined at the same time points. Ordinary least squares regression was used to model SPRR1B’s relationship with lissamine green staining, goblet cell density, and immune cell infiltration. Results Lissamine green staining was present in Aire-deficient mice by four weeks of age and increased over time. Compared to Aire-sufficient controls, conjunctival goblet cell density (GCD) decreased and corneal SPRR1B increased in Aire-deficient mice with significant differences noted at both 8 and 16 weeks. Immune-mediated CD4+ T cell infiltration of the conjunctiva and limbus peaked at eight weeks and then decreased. In contrast, corneal T cell infiltration continued to increase over time, reaching a maximum cell number at 16 weeks. CD11c+ myeloid-derived DCs were found in the conjunctiva and limbus at all time points. As the mice aged, there was a notable increase in corneal CD11c+ cell counts. Interestingly, the dynamic of activated MHC class II+ DCs was nearly identical to that of CD4+ T cells, peaking first in the limbus at eight weeks with maximum infiltration of the cornea by 16 weeks. Regression analysis showed that squamous metaplasia biomarker, SPRR1B, is strongly related to the lissamine green staining of the ocular surface. Corneal infiltration of activated DCs was most prognostic of corneal SPRR1B expression while the presence of precursor DCs, activated DCs, and CD4+ T cells in the limbus were also significant predictors of SPRR1B. Conclusions Aire-deficient mice represent a useful model to study Sjögren-like autoimmune-mediated ocular surface disease. Results of the current study suggest that squamous cell precursor protein, SPRR1B, provides an important readout to evaluate ocular surface damage and specific events related to immune-mediated inflammation. Results also define an appropriate time frame for interventional studies to develop more effective therapies for keratinizing ocular surface disease.
Predicting OWL Reasoners: Locally or Globally?

We propose a novel approach for performance prediction of OWL reasoners. It selects suitable, small ontology subsets, and then extrapolates reasoner’s performance on them to the whole ontology. We investigate intercorrelation of ontology features using PCA. Finally, we discuss various error measures for performance prediction and compare our approach against an existing one using these measures.
Which Coreference Evaluation Metric Do You Trust? A Proposal for a Link-based Entity Aware Metric

Interpretability and discriminative power are the two most basic requirements for an evaluation metric. In this paper, we report the mention identiﬁcation effect in the B 3 , CEAF , and BLANC coreference evaluation metrics that makes it impossible to interpret their results properly. The only metric which is insensitive to this ﬂaw is MUC , which, however, is known to be the least discriminative metric. It is a known fact that none of the current metrics are reliable. The common practice for ranking coreference resolvers is to use the average of three different metrics. However, one cannot expect to obtain a reliable score by averaging three unreliable metrics. We propose LEA, a Link-based Entity-Aware evaluation metric that is designed to overcome the shortcomings of the current evaluation metrics. LEA is available as branch LEA-scorer in the reference implementation of the ofﬁcial CoNLL scorer.