bluuebunny/crossref_metadata_2025_split huggingface dataset:
A missense mutation inTUBD1is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
Authors: Schwarzenbacher Hermann , Burgstaller Johann , Seefried Franz R. , Wurmser Christine , Hilbe Monika , Jung Simone , Fuerst Christian , Dinhopl Nora , Weissenböeck Herbert , Fuerst-Waltl Birgit , Dolezal Marlies , Winkler Reinhard , Grueter Oskar , Bleul Ulrich , Wittek Thomas , Fries Ruedi , Pausch Hubert 
Published: March 2016

AbstractBackgroundHaplotypes with reduced or missing homozygosity may harbor deleterious alleles that compromise juvenile survival. A scan for homozygous haplotype deficiency revealed a short segment on bovine chromosome 19 (Braunvieh haplotype 2, BH2) that was associated with high juvenile mortality in Braunvieh cattle. However, the molecular genetic underpinnings and the pathophysiology of BH2 remain to be elucidated.ResultsThe frequency of BH2 was 6.5 % in 8,446 Braunvieh animals from the national bovine genome databases. Both perinatal and juvenile mortality of BH2 homozygous calves were higher than the average in Braunvieh cattle resulting in a depletion of BH2 homozygous adult animals (P=9.3x10−12). The analysis of whole-genome sequence data from 54 Braunvieh animals uncovered a missense mutation inTUBD1(rs383232842, p.H210R) that was compatible with recessive inheritance of BH2. The availability of sequence data of 236 animals from diverse bovine populations revealed that the missense mutation also segregated at a low frequency (1.7 %) in the Fleckvieh breed. A validation study in 37,314 Fleckvieh animals confirmed high juvenile mortality of homozygous calves (P=2.2x10−15). Our findings show that the putative disease allele is located on an ancestral haplotype that segregates in Braunvieh and Fleckvieh cattle. To unravel the pathophysiology of BH2, six homozygous animals were examined at the animal clinic. Clinical and pathological findings revealed that homozygous calves suffered from chronic airway disease possibly resulting from defective cilia in the respiratory tract.ConclusionsA missense mutation inTUBD1is associated with high perinatal and juvenile mortality in Braunvieh and Fleckvieh cattle. The mutation is located on a common haplotype likely originating from an ancient ancestor of Braunvieh and Fleckvieh cattle. Our findings demonstrate for the first time that deleterious alleles may segregate across closed cattle breeds without recent admixture. Homozygous calves suffer from chronic airway disease resulting in poor growth performance and high juvenile mortality. The respiratory manifestations resemble key features of diseases resulting from impaired function of airway cilia.
Glycolytic enzymes localize to synapses under energy stress to support synaptic function
Authors: Jang SoRi , Nelson Jessica C. , Bend Eric G. , Rodríguez-Laureano Lucelenie , Tueros Felipe G. , Cartagenova Luis , Underwood Katherine , Jorgensen Erik M. , Colón-Ramos Daniel A. 
Published: March 2016

SummaryChanges in neuronal activity create local and transient changes in energy demands at synapses. Here we discover a metabolic compartment that formsin vivonear synapses to meet local energy demands and support synaptic function inCaenorhabditis elegansneurons. Under conditions of energy stress, glycolytic enzymes redistribute from a diffuse localization in the cytoplasm to a punctate localization adjacent to synapses. Glycolytic enzymes colocalize, suggesting thead hocformation of a glycolysis compartment, or a ‘glycolytic metabolon’, that can maintain local levels of ATP. Local formation of the glycolytic metabolon is dependent on presynaptic scaffolding proteins, and disruption of the glycolytic metabolon blocks the synaptic vesicle cycle, impairs synaptic recovery, and affects locomotion. Our studies indicate that energy demands in neurons are met locally through the assembly of a glycolytic metabolon to sustain synaptic function and behavior.
Measuring epistasis in fitness landscapes: the correlation of fitness effects of mutations
Authors: Ferretti Luca , Schmiegelt Benjamin , Weinreich Daniel , Yamauchi Atsushi , Kobayashi Yutaka , Tajima Fumio , Achaz Guillaume 
Published: March 2016

AbstractGenotypic fitness landscapes are constructed by assessing the fitness of all possible combinations of a given number of mutations. In the last years, several experimental fitness landscapes have been completely resolved. As fitness landscapes are high-dimensional, simple measures of their structure are used as statistics in empirical applications. Epistasis is one of the most relevant features of fitness landscapes. Here we propose a new natural measure of the amount of epistasis based on the correlation of fitness effects of mutations. This measure has a natural interpretation, captures well the interaction between mutations and can be obtained analytically for most landscape models. We discuss how this measure is related to previous measures of epistasis (number of peaks, roughness/slope, fraction of sign epistasis, Fourier-Walsh spectrum) and how it can be easily extended to landscapes with missing data or with fitness ranks only. Furthermore, the dependence of the correlation of fitness effects on mutational distance contains interesting information about the patterns of epistasis. This dependence can be used to uncover the amount and nature of epistatic interactions in a landscape or to discriminate between different landscape models.
Decomposing the site frequency spectrum: the impact of tree topology on neutrality tests
Authors: Ferretti Luca , Ledda Alice , Wiehe Thomas , Achaz Guillaume , Ramos-Onsins Sebastian E. 
Published: March 2016

AbstractWe investigate the dependence of the site frequency spectrum (SFS) on the topological structure of genealogical trees. We show that basic population genetic statistics – for instance estimators ofθor neutrality tests such as Tajima’sD– can be decomposed into components of waiting times between coalescent events and of tree topology. Our results clarify the relative impact of the two components on these statistics. We provide a rigorous interpretation of positive or negative values of an important class of neutrality tests in terms of the underlying tree shape. In particular, we show that values of Tajima’sDand Fay and Wu’sHdepend in a direct way on a peculiar measure of tree balance which is mostly determined by the root balance of the tree. We present a new test for selection in the same class as Fay and Wu’sHand discuss its interpretation and power. Finally, we determine the trees corresponding to extreme expected values of these neutrality tests and present formulae for these extreme values as a function of sample size and number of segregating sites.
Scholars’ research-related personal information collections
Authors: AL-Omar Mashael , Cox Andrew Martin 
Published: March 2016

Purpose
– The purpose of the paper is to explore the character of scholars’ research-related personal information collections (PICs).

Design/methodology/approach
– The study was based on in-depth interviews and office tours of 17 scholars in Education and Health Sciences in a Kuwaiti Higher Education Institution.

Findings
– Scholars’ research-related PICs were added to throughout the research life-cycle. They were huge, diverse, hybrid and fragmented. Key factors shaping the collections were the pressure to do research, time pressure in general, quality of space available, technology opportunity, lack of support from central services, the need to collect Arabic material, self-presentation and self-management. Older scholars and non-Kuwaiti nationals experienced the pressures slightly differently.

Research limitations/implications
– The study was limited to scholars in two disciplines, in one institution in a developing world context. However the models produced are suggestive of factors involved in shaping of the research-related PICs of scholars in general.

Practical implications
– Failures in personal information management are a cause for concern in terms of data integrity and validity of research. Interventions could include training of early career researchers for a life time of collecting.

Originality/value
– This is the first study to examine the contents of scholars’ research-related PICs and to provide a model of factors shaping them.
Assessing disciplinary differences in faculty perceptions of information literacy competencies
Authors: Pinto Maria 
Published: March 2016

Purpose
– Uncovering faculty members’ conceptions of Information Literacy (IL), as well as exploring their perceptions with regard to the importance given to a previously defined set of core IL competences grouped into four categories: searching, evaluation, processing and communication and dissemination. Ascertaining the possible differences among the five knowledge branches (arts and humanities, sciences, social and legal sciences, health sciences, and technical disciplines); and understanding the importance granted to a set of learning improvement initiatives by the faculty. The paper aims to discuss these issues.

Design/methodology/approach
– The survey was completed by a set of faculty members from the University of Granada (Spain). Data were collected using the IL-HUMASS survey. The research is based on subjective data, first approached from a descriptive point of view. Later, data correlation, analysis and non-parametric tests were used with the goal of finding significant differences of faculty perceptions among the relevant academic areas.

Findings
– Results suggest that more than half of the surveyed faculty have what the authors define as an Academic Concept of IL. The IL categories of communica\tion and dissemination and searching were graded in significance by the staff as being “very important,” while those of evaluation and processing were assigned a slightly lesser rating of “important.” Results suggest that IL awareness falls into two broad groups differentiated by subject discipline: those from health sciences, social and legal sciences and arts and humanities representing the first group, and sciences and technical disciplines the other.

Research limitations/implications
– This approach address the subjective status of faculty concepts in a single university, but also in all knowledge branches. Future research is needed.

Originality/value
– This is one of the few papers regarding faculty perceptions of IL.
The importance of the Whatsapp family group: an exploratory analysis
Authors: Aharony Noa , Gazit Tali 
Published: March 2016

Purpose– The purpose of this paper is to focus on WhatsApp, a mobile messaging service for smartphones that began in 2009. The study uses attachment theory, a social support perspective and one personality characteristic derived from the Big Five theory of personality (“openness to experience”) and attempts to predict how these variables influence the importance of the WhatsApp family group.Design/methodology/approach– Research was conducted in Israel during the first semester of the 2015 academic year and encompassed 191 undergraduate communication students. Researchers used six questionnaires to gather personal details, WhatsApp use, WhatsApp importance, attachment, openness to experience, and social support.Findings– The findings confirm that the personality characteristic of openness to experience and social support significantly predict the importance of WhatsApp family group. Findings present a complex and ambiguous relationship between the attachment variables and the importance of WhatsApp family group.Originality/value– The literature has not yet dealt with the issue of WhatsApp groups. Hence, the current study highlights associations between WhatsApp family group and attachment theory, the personality characteristic of openness to experience, social support, and family frequency use.
Rebranding Macau: views of cultural industry insiders
Authors: Sou Joey Pek U , Vinnicombe Thea , Leung Tiffany Chang Han 
Published: March 2016

Purpose
– This paper aims to evaluate the feasibility of utilizing the performing arts as one element in changing the destination image of the Macau special administrative region from that of the Las Vegas of the East to a “World Centre of Tourism and Leisure”. The context is of particular interest as rebranding is typically associated with negative or outdated images, whereas Macau’s existing brand is strong and associated with positive tourism revenues.

Design/methodology/approach
– Semi-structured in-depth interviews with frontline participants in Macau’s performing arts sector are utilized to evaluate the relevant re-branding strategies and goals of the city’s administration. In-depth interviews focus on understanding policies through the thoughts and experiences of respondents. They are particularly useful in cases where insiders are likely to be better informed than others with respect to policy issues.

Findings
– Three main themes related to the use of the performing arts as a vehicle for destination rebranding are explored. Findings suggest that few elements common to successful branding campaigns are evident in the approach of the Macau administration. Shortcomings are evident, for example, in communication, infrastructure development, long-term planning and the allocation and monitoring of funding.

Research limitations/implications
– Although qualitative research relies on rich data from small numbers, the study focuses only on the views of informed insiders in the performing arts. Input from commercial stakeholders and higher-level policy makers would broaden the perspective.

Practical implications
– The findings are relevant for any destination wishing to alter or update its image.

Originality/value
– Cultural aspects are increasingly utilized in destination branding. This study is one of only a few which focuses on the performing arts sector.
Exploring managerial perceptions of place brand associations in the US Deep South
Authors: Zavattaro Staci M. 
Published: March 2016

Purpose
– This paper aims to understand how place brand managers in the US Deep South understand the brand images associated with their states and cities. The US South has its own unique identity – and the Deep South has its own differences from the rest of the country. Typically, the Deep South is seen as backwards, uneducated and the “buckle of the Bible Belt”. Given potentially negative brand associations, this research explores how destination marketing organization (DMO) managers in three Deep South states (Mississippi, Louisiana and Alabama) think their places are perceived.

Design/methodology/approach
– Miles et al.’s (2014) guidelines for qualitative content analysis are used to understand responses to open-ended questions regarding place brand associations. Surveys were sent to 104 DMO managers in each state, and 53 questionnaires were returned with usable responses. Deductive and inductive analyses were used to understand place brand associations, as well as how managers in the three states are promoting positive associations or correcting negative ones.

Findings
– Managers reported both positive and negative brand associations but also detailed problems when promoting either: financial and political constraints, information sharing, and asset capitalization. Managers, then, face issues when trying to promote their cities and states, thus negatively influencing the economic and social returns on tourism investment into the region.

Originality/value
– Not many studies examine this region of the USA when it comes to tourism-related brand associations. Usually studies focus more broadly on a Southern identity rather than specific associations DMO managers understand the state to maintain. The study also fills a gap regarding asking DMO managers how and why they do what they do. Finally, the study puts into action Gertner and Kotler’s (2004) framework for assessing corrective measures for a negative brand image.
A review of self-efficacy training for international student
Authors: Wirawan Hillman , Bandu Muhammad Thahir 
Published: March 2016

Purpose
– The purpose of this paper is to consider the implication of self-efficacy training for international students (SETIS). International students faced various transitional challenges which also potentially attenuate their academic performance. Social Cognitive Theory (SCT) is sufficient in explaining this phenomenon as well as suggesting self-efficacy enhancement strategies.

Design/methodology/approach
– This paper is a speculative viewpoint on the implications of SETIS. The author reviewed relevant literature and systematically constructing the SETIS based on the SCT. The SCT was used to design an appropriate training to help international students cope with transitional challenges which significantly attenuate their academic performance.

Findings
– The SCT and self-efficacy theory were relevant in designing the training for international students. There are four key elements of the SETIS: goal-setting; effort explanation; modeling; and sharing and evaluation. The implementation of SETIS follows the common rule in conducting effective training including need assessment and post-training evaluation. Information from academic performance record, English as Second Language test score, General Self-efficacy Scale, Students’ Adaptation to College Questionnaire, and Focus Group Discussion is also necessary to justify the need for SETIS.

Research limitations/implications
– Despite theoretical evidence of the SETIS, further research is necessary to test the effectiveness of this training. Future study in this specific area should focus on examining the effectiveness of the training.

Originality/value
– This paper addressed important issues in international education. A systematic effort in providing robust and theoretical-based training for international students is necessary. By considering the importance of self-efficacy and academic performance, this paper had begun an initial effort in designing training for international students who are struggling for a transitional challenge. Additionally, this paper provides a practical guideline in implementing SETIS.
A systematic review of Karen refugee health
Authors: Hoffman Sarah J. , Robertson Cheryl L. 
Published: March 2016

Purpose
– The purpose of this paper is to provide a comprehensive perspective of the documented physical and mental health issues Karen refugees from Burma face as a result of war and refugee trauma, and migration. The review will address the question: What is the impact of trauma and migration on the physical and mental health of Karen refugees?

Design/methodology/approach
– A total of 18 articles were systematically selected for inclusion in the final review. The focal content for included articles includes qualitative and quantitative research representative of the health and migration experiences of Karen refugees.

Findings
– The findings of this review demonstrate significance for health providers from a public health standpoint as programs and services are targeted to meet the specific health needs of the Karen community. It also highlights the contribution of the Karen forced migration experience to the complexity of individual and community health needs, particularly as a result of the protracted conflict.

Originality/value
– This critical appraisal of the body of literature describing the health experiences of Karen refugees from Burma, with a particular focus on outcomes relevant to resettlement, demonstrates value as programs are developed with an integrated refugee perspective.
Do acculturation strategies have impacts on the self-declared health, well-being and lifestyle of first-generation allophone immigrants in Montreal, Canada?
Authors: Étémé Gaëlle , Girard Alain , Massé Jean-Claude , Sercia Pierre 
Published: March 2016

Purpose– The purpose of this paper is to understand to what extent, the process of acculturation and the strategies which ensue from it can affect the self-declared health as regards the lifestyle, the physical activity, the diet and the well-being of first-generation immigrants living in the Montreal region (Quebec, Canada).Design/methodology/approach– A supervised survey was administered to adult allophones immigrants attending French-language courses, autumn 2011 (506 valid surveys). The authors discuss the concept and the validation of their acculturation model and its relevance in regard of the purposes of the research.Findings– The indicator allowed to clearly identify three groups that differentiate on numerous variables of the survey. Independently of the acculturations strategies adopted by the respondents, the authors observe a deterioration of the self-declared overall state of health, development of sedentary living, a fairly high level of stress and depressive episode within the entire sample. However, the group isolated as “retention” has consistently the lowest scores on all these variables. In terms of public health and health social inequalities issues these results are worrisome. The “assimilation” group have the highest scores and the “integration” group consistently shows and intermediate “balancing” position.Originality/value– The authors claim that the strategies of acculturation are not always the expression of a free will. They are also the product of constraints specific to the host society and are just as much the result of the pre-migratory socialization. This is especially the case of the “retention” group and more specifically of women. The negative effects of social, cultural and economic constraints of the host society on overall health, well-being and lifestyle as well as adaptation strategies should be monitored in a more systematic manner in recent immigrant populations and be specifically addressed in immigrant integration policies and programmes.
“When you are here, you have high blood pressure”: Liberian refugees’ health and access to healthcare in Staten Island, NY
Authors: Ludwig Bernadette , Reed Holly 
Published: March 2016

Purpose
– The purpose of this paper is to examine health issues among Liberian refugees living in Staten Island and access potential barriers to accessing healthcare.

Design/methodology/approach
– Qualitative methods including interviews (n=68) with West African immigrants, predominantly Liberian refugees, and long-term ethnography were employed to elicit West Africans’ views on health, acculturation, and access to service providers. Framework analysis was employed to analyze the data thematically.

Findings
– Chronic health diseases, depression, isolation, and inadequate access to healthcare were the main concerns of the population studied. The findings are in contrast to the public health experts’ concentration on infectious diseases.

Practical implications
– The barriers to access proper healthcare have implications for healthcare providers and government institutions and information about these barriers can help them to refocus their health efforts to better address the needs of West African refugees.

Originality/value
– Africans are among the newest immigrants in the USA and are considerably understudied compared to other groups such as Latin Americans and Asians. Additionally, there is an abundance research about refugees’ health status when they first arrive in the USA, but there is little data on their health after their resettlement.