cometadata/datacite-rtg-text-other-reclassification-records huggingface dataset:
The Implications of Parental and Child Smartphone Use on Parent-Child and Family Relationships: a Case-Study of the Turkish-Speaking Community in London
Creators: name: Yaman, Ergin
Publisher: name: University of Westminster
Year: 2021

description: This qualitative research study explores the implications of parental and child smartphone use on parent-child and family relationships. It also explores the role of smartphones in children’s contact with distant family members and the implications of smartphones for children’s learning, health and entertainment. In exploring all these, this thesis aims to contribute to the literature on digital device use and its various implications for immigrant ethnic minority children and families. The theoretical framework of this study draws on different strands of literature at the intersection of parent-child relationship and media. By focusing on this intersection, the study explores how the experiences and perceptions of parent-child and family relationships are influenced by smartphone use. The study data are based on semi-structured, in-depth interviews with 14 families, 19 interviews with children and 15 interviews with parents. The study concluded that with the wide integration of smartphones into family life, there are interferences with the everyday experiences of parent-child and family time. It also concluded that immersion into and/or distraction by smartphones weakens the quality of parent-child communication, parent-child relationship and parenting. The study further concluded that smartphones play a positive role in children’s connection with their extended family members in Turkey, which was valued both by the children and their parents. In terms of the role of smartphones for children’s entertainment, for all of the interviewed children smartphones were found to be playing a significant role in this respect. As for smartphones’ role in children’s learning, most of the interviewed children seemed to value smartphones as a tool that helps them with their learning and feeding their interests. Children and parents associated positive feelings with children's smartphone use for learning whilst describing their non-educational smartphone use as a “waste of time” or “useless”. With respect to the impact of smartphone use on children's health, both parents and children reported concerns in this respect. The findings of this study highlight that the way smartphones are used can either lead them to be perceived as facilitating and connecting devices that lead to improved connection and satisfaction whilst meeting various needs or separating devices that fracture/interfere with parent-child and family relationships, which can in turn be a source of conflict and dissatisfaction. This thesis is a first step in illustrating the implications of smartphone use on parent-child and family relationships in the Turkish-speaking community in London. Further diverse research on this subject on immigrant ethnic minority communities will help to gain a broader understanding of the implications of digital device use on parent-child and family relationships within immigrant ethnic minority communities.
Prioritized Subset Analysis: Improving Power in Genome-wide Association Studies
Creators: name: Watanabe, Richard M.
name: Li, Chun
name: Li, Mingyao
name: Lange, Ethan M.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2008

description: Genome-wide association studies (GWAS) are now feasible for studying the genetics underlying complex diseases. For many diseases, a list of candidate genes or regions exists and incorporation of such information into data analyses can potentially improve the power to detect disease variants. Traditional approaches for assessing the overall statistical significance of GWAS results ignore such information by inherently treating all markers equally.
Quantification of Population Structure Using Correlated SNPs by Shrinkage Principal Components
Creators: name: Lee, Seunggeun
name: Zou, Fei
name: Knowles, Michael R.
name: Wright, Fred A.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2010

description: Association studies using unrelated individuals have become the most popular design for mapping complex traits. One of the major challenges of association mapping is avoiding spurious association due to population stratification. Principal component analysis (PCA) on genome-wide marker genotypes is one of the most popular population stratification control methods. It implicitly assumes that the markers are in linkage equilibrium, a condition that is rarely satisfied and that we plan to relax.
Appendices to Exploring the Reasons for Labour Market Gender Inequality a Year into the Covid-19 Pandemic: Evidence from the UK Cohort Studies
Creators: name: Wielgoszewska, Bozena
Publisher: name: figshare
Year: 2023
Subjects: Other economics not elsewhere classified

description: Appendices to Exploring the Reasons for Labour Market Gender Inequality a Year into the Covid-19 Pandemic: Evidence from the UK Cohort Studies
The Dynamics of Compact Laser Pulses
Creators: name: Goto, S.
name: Tucker, R. W.
name: Walton, T. J.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Quantum Physics (quant-ph)
subject: Optics (physics.optics)
subject: FOS: Physical sciences

description: We discuss the use of a class of exact finite energy solutions to the vacuum source-free Maxwell equations as models for multi- and single cycle laser pulses in classical interaction with relativistic charged point particles. These compact solutions are classified in terms of their chiral content and their influence on particular charge configurations in space. The results of such classical interactions motivate a phenomenological quantum description of a propagating laser pulse in a medium in terms of an effective quantum Hamiltonian.
description: 15 pages, 3 figures and 1 table; final version of article accepted for publication in J Phys A
Assessing the Impact of Non-Differential Genotyping Errors on Rare Variant Tests of Association
Creators: name: Powers, Scott
name: Gopalakrishnan, Shyam
name: Tintle, Nathan
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2011

description: We aim to quantify the effect of non-differential genotyping errors on the power of rare variant tests and identify those situations when genotyping errors are most harmful.
Human Endometrial Epithelial Cells Cyclically Express Toll-Like Receptor 3 (TLR3) and Exhibit TLR3-Dependent Responses to dsRNA
Creators: name: Jorgenson, Rebecca L.
name: Misfeldt, Michael L.
name: Lyddon, Terri D.
name: Young, Steven L.
name: Lesmeister, Margaret J.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2005

description: Toll-like receptor 3 (TLR3) responds to dsRNA, a product of most viral life cycles, and initiates production of proinflammatory and antiviral cytokines. The role of TLR3 in human mucosal immunity of the endometrium has not been examined. The effects of TLR3 ligation in endometrial epithelium could be significant as the endometrium is a significant site for viral entry and infection. Additionally, the cytokine milieu plays an essential role in normal functions of the endometrium such as uterine cycle progression, epithelial proliferation and shedding, and embryo implantation. In this study, we demonstrated cycle dependent expression of functional TLR3 in primary endometrial epithelial tissue and expression of intracellular TLR3 in human endometrial epithelial cell lines. We established that stimulation of TLR3-positive cell lines and primary human endometrial epithelial cells with dsRNA leads to TLR3-dependent expression of interleukin (IL)-6, IL-8, interferon (IFN)-inducible protein 10, RANTES, and IFN-β. These results indicate that the cytokine profile of human endometrial epithelial cells can be modified through TLR3 stimulation. Our findings suggest that TLR3 is involved in the immune responses of endometrial epithelial cells after exposure to dsRNA and has the potential to alter the cytokine milieu and influence the outcome and consequences of infection.
Quotient manifolds of flows
Creators: name: Gompf, Robert E.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Dynamical Systems (math.DS)
subject: Geometric Topology (math.GT)
subject: FOS: Mathematics
subject: 37C10, 37C15 (Primary), 57R25 (Secondary)

description: This paper investigates which smooth manifolds arise as quotients (orbit spaces) of flows of vector fields. Such quotient maps were already known to be surjective on fundamental groups, but this paper shows that every epimorphism of countably presented groups is induced by the quotient map of some flow, and that higher homology can also be controlled. Manifolds of fixed dimension arising as quotients of flows on Euclidean space realize all even (and some odd) intersection pairings, and all homotopy spheres of dimension at least 2 arise in this manner. Most Euclidean spaces of dimensions 5 and higher have families of topologically equivalent but smoothly inequivalent flows with quotient homeomorphic to a manifold with flexibly chosen homology. For m at least 2r>2, there is a topological flow on (R^{2r+1}-(8 points))xR^m that is unsmoothable, although smoothable near each orbit, with quotient an unsmoothable topological manifold.
description: 12 pages, 1 figure. To appear (v2) in the Tim Cochran memorial issue of J. Knot Theory Ramifications. Paragraph added to v2 (Section 3) discussing how a the quotient of a flow can canonically inherit a smooth manifold structure when there are fixed points. Figure added (for definition of handles at infinity), introduction revised, other minor (nonmathematical) edits
Decolonising Teacher Professionalism: Foregrounding the Perspectives of Teachers in the Global South
Creators: name: Tikly, Leon
name: Barrett, Angeline M.
name: Batra, Poonam
name: Bernal, Alexandra
name: Cameron, Leanne
name: Coles, Alf
name: Juma, Zawadi Richard
name: Mitchell, Rafael
name: Alviles Nunes, Nidia
name: Paulson, Julia
name: Rowsell, Jennifer
name: Tusiime, Michael
name: Vejarano, Beatriz
name: Weldemariam, Nigusse
Publisher: name: Zenodo
Year: 2022

description: The paper aims to provide a decolonial critique of dominant global agendas concerning teacher professionalism and to propose new understanding based on the perceptions of a sample of teachers based in Colombia, Ethiopia, India, Rwanda and Tanzania. The paper commences by setting out dominant conceptions of teacher professionalism as they appear in the global literature. The paper then uses Ndlovu-Gatsheni’s (2013) three dimensions of coloniality, namely, the coloniality of power, of knowledge and of being, as a framework for considering the colonial legacy on teacher professionalism and setting out the teachers’ ideas concerning the barriers and affordances to their professionalism. This provides a basis for outlining the teachers’ perspectives on how teacher professionalism may be conceptualised, which is discussed in relation to global conceptions. The main arguments advanced in the paper are that a decolonial lens is helpful for contextualising the perspectives of teachers in the global South; the lived experiences and material conditions of these teachers are often neglected in dominant discourses; it is important to situate the perspectives of teachers in an understanding of local contexts and realities; and, that in contrast to deficit discourses that predominate in the global literature, there is much that can be learned about teacher professionalism from teachers in the global South.
Inference on Self-Exciting Jumps in Prices and Volatility using High Frequency Measures
Creators: name: Maneesoonthorn, Worapree
name: Forbes, Catherine S.
name: Martin, Gael M.
Publisher: name: Monash University
Year: 2022
Subjects: Econometric and statistical methods
Econometrics not elsewhere classified

description: Dynamic jumps in the price and volatility of an asset are modelled using a joint Hawkes process in conjunction with a bivariate jump diffusion. A state space representation is used to link observed returns, plus nonparametric measures of integrated volatility and price jumps, to the specified model components; with Bayesian inference conducted using a Markov chain Monte Carlo algorithm. An evaluation of marginal likelihoods for the proposed model relative to a large number of alternative models, including some that have featured in the literature, is provided. An extensive empirical investigation is undertaken using data on the S&P500 market index over the 1996 to 2014 period, with substantial support for dynamic jump intensities -- including in terms of predictive accuracy -- documented.
Traces for Besov spaces on fractal h-sets and dichotomy results
Creators: name: Caetano, António
name: Haroske, Dorothee
Publisher: name: arXiv
Year: 2015
Subjects: subject: Functional Analysis (math.FA)
subject: FOS: Mathematics
subject: Primary 46E35, Secondary 28A80

description: We study the existence of traces of Besov spaces on fractal $h$-sets $Γ$ with the special focus laid on necessary assumptions implying this existence, or, in other words, present criteria for the non-existence of traces. In that sense our paper can be regarded as an extension of [Br4] and a continuation of the recent paper [Ca2]. Closely connected with the problem of existence of traces is the notion of dichotomy in function spaces: We can prove that -- depending on the function space and the set $Γ$ -- there occurs an alternative: either the trace on $Γ$ exists, or smooth functions compactly supported outside $Γ$ are dense in the space. This notion was introduced by Triebel in [Tr7] for the special case of $d$-sets.
description: 33 pages; 1 figure
The TBX21 transcription factor T-1993C polymorphism is associated with decreased IFN-γ and IL-4 production by primary human lymphocytes
Creators: name: Rao, S.B.
name: Ibrahim, J.G.
name: Waxweiler, W.T.
name: Fong, A.M.
name: Thomas, N.E.
name: Fyall, K.M.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: T-bet is a transcription factor that drives the Th1 immune response primarily through promoting expression of the IFN-γ gene. Polymorphisms in the T-bet gene, TBX21, have been associated with immune-mediated diseases such as asthma and systemic sclerosis. We found that the TBX21 promoter polymorphism T-1993C is associated with a significant decrease in IL-4 and IFN-γ production by stimulated primary human lymphocytes from healthy participants.
The soluble epoxide hydrolase gene harbors sequence variation associated with susceptibility to and protection from incident ischemic stroke
Creators: name: Doris, Peter A.
name: Fornage, Myriam
name: Bray, Molly S.
name: Lee, Craig R.
name: Heiss, Gerardo
name: Boerwinkle, Eric
name: Zeldin, Darryl C.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2005

description: Stroke is the leading cause of severe disability and the third leading cause of death, accounting for 1 of every 15 deaths in the United States. We investigated the association of polymorphisms in the soluble epoxide hydrolase gene (EPHX2) with incident ischemic stroke in African-Americans and Whites. Twelve single nucleotide polymorphisms (SNPs) spanning EPHX2 were genotyped in a case-cohort sample of 1,336 participants from the Atherosclerosis Risk in Communities (ARIC) study. In each racial group, Cox proportional hazard models were constructed to assess the relationship between incident ischemic stroke and EPHX2 polymorphisms. A score test method was used to investigate the association of common haplotypes of the gene with risk of ischemic stroke. In African-Americans, two common EPHX2 haplotypes with significant and opposing relationships to ischemic stroke risk were identified. In Whites, two common haplotypes showed suggestive indication of an association with ischemic stroke risk but, as in African-Americans, these relationships were in opposite direction. These findings suggest that multiple variants exist within or near the EPHX2 gene, with greatly contrasting relationships to ischemic stroke incidence; some associated with a higher incidence, others with a lower incidence.
Genetic variation in soluble epoxide hydrolase (EPHX2) and risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) study
Creators: name: Zeldin, Darryl C.
name: Fornage, Myriam
name: North, Kari E.
name: Bray, Molly S.
name: Hammock, Bruce D.
name: Newman, John W.
name: Seubert, John M.
name: Heiss, Gerardo
name: Lee, Craig R.
name: Couper, David J.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2006

description: Endothelial dysfunction contributes to the development of coronary heart disease (CHD). Soluble epoxide hydrolase metabolizes epoxyeicosatrienoic acids in the vasculature and regulates endothelial function. We sought to determine whether genetic variation in soluble epoxide hydrolase (EPHX2) was associated with the risk of CHD. We genotyped 2065 Atherosclerosis Risk in Communities study participants (1085 incident CHD cases, 980 non-cases) for 10 previously identified polymorphisms in EPHX2. Using a case–cohort design, associations between incident CHD risk and both non-synonymous EPHX2 polymorphisms and phase-reconstructed haplotypes were evaluated using proportional hazards regression. Individuals carrying the K55R polymorphism variant allele demonstrated higher apparent soluble epoxide hydrolase activity in vivo. Presence of the K55R variant allele was significantly more common among Caucasian CHD cases when compared with non-cases (20.8% versus 15.3%, respectively, P = 0.012), and was associated with significantly higher risk of incident CHD (adjusted hazard rate ratio 1.45, 95% confidence interval 1.05–2.01, P = 0.026). A significant association between the K55R variant allele and risk of CHD was not observed in African-Americans. The distribution of reconstructed haplotypes were significantly different in Caucasian cases when compared with non-cases (P = 0.021). Significant differences in haplotype distribution were not observed in African-Americans (P = 0.315). Genetic variation in EPHX2 was significantly associated with risk of incident CHD in Caucasians, implicating EPHX2 as a potential cardiovascular disease-susceptibility gene.
FAIR: Forwarding Accountability for Internet Reputability
Creators: name: Pappas, Christos
name: Reischuk, Raphael M.
name: Perrig, Adrian
Publisher: name: arXiv
Year: 2015
Subjects: subject: Networking and Internet Architecture (cs.NI)
subject: FOS: Computer and information sciences

description: This paper presents FAIR, a forwarding accountability mechanism that incentivizes ISPs to apply stricter security policies to their customers. The Autonomous System (AS) of the receiver specifies a traffic profile that the sender AS must adhere to. Transit ASes on the path mark packets. In case of traffic profile violations, the marked packets are used as a proof of misbehavior. FAIR introduces low bandwidth overhead and requires no per-packet and no per-flow state for forwarding. We describe integration with IP and demonstrate a software switch running on commodity hardware that can switch packets at a line rate of 120 Gbps, and can forward 140M minimum-sized packets per second, limited by the hardware I/O subsystem. Moreover, this paper proposes a "suspicious bit" for packet headers - an application that builds on top of FAIR's proofs of misbehavior and flags packets to warn other entities in the network.
description: 16 pages, 12 figures
title:  Le culture e le letterature ispanoamericane nella scuola italiana
Creators: name: Villani, Adele
name: Caracci, Francesco
Publisher: name: Sapienza Università Editrice
Year: 2023

description: Il presente volume rappresenta il frutto di un’intensa riflessione, iniziata nell’autunno del 2020, circa la necessità di ampliare e innovare lo studio delle culture e delle letterature ispanoamericane nella scuola italiana. In primo luogo, il lavoro, adottando una prospettiva transnazionale e transculturale, mira a sottolineare l’enorme divario esistente tra la trattazione della letteratura spagnola e quella della letteratura ispanoamericana nei programmi di Lingua Spagnola. In secondo luogo, gli autori provano a delineare dei percorsi educativi alternativi che, tenendo conto dell’impiego di tecnologie digitali nella scuola, propongano di conciliare il raggiungimento degli obiettivi specifici di apprendimento previsti dal Quadro Comune Europeo di Riferimento (QCER) per la conoscenza delle lingue con lo sviluppo di alcune abilità trasversali ritenute di pari importanza.
مروری بر چاپ زیستی سه بعدی غضروف بینی به کمک هیدروژلهای کامپوزیتی
Creators: name: Rostamani, Hosein
name: Fakhraei, Omid
Publisher: name: figshare
Year: 2023
Subjects: Composite and hybrid materials

description: Link: https://civilica.com/doc/1608014/
Auxiliary Likelihood-Based Approximate Bayesian Computation in State Space Models
Creators: name: Martin, Gael M.
name: McCabe, Brendan P.M.
name: Frazier, David T.
name: Maneesoonthorn, Worapree
name: Robert, Christian P.
Publisher: name: Monash University
Year: 2022
Subjects: Econometric and statistical methods
Econometrics not elsewhere classified

description: A new approach to inference in state space models is proposed, using approximate Bayesian computation (ABC). ABC avoids evaluation of an intractable likelihood by matching summary statistics computed from observed data with statistics computed from data simulated from the true process, based on parameter draws from the prior. Draws that produce a ‘match’ between observed and simulated summaries are retained, and used to estimate the inaccessible posterior; exact inference being possible in the state space setting, we pursue summaries via the maximization of an auxiliary likelihood function. We derive conditions under which this auxiliary likelihood-based approach achieves Bayesian consistency and show that – in a precise limiting sense – results yielded by the auxiliary maximum likelihood estimator are replicated by the auxiliary score. Particular attention is given to a structure in which the state variable is driven by a continuous time process, with exact inference typically infeasible in this case due to intractable transitions Two models for continuous time stochastic volatility are used for illustration, with auxiliary likelihoods constructed by applying computationally efficient filtering methods to discrete time approximations. The extent to which the conditions for consistency are satisfied is demonstrated in both cases, and the accuracy of the proposed technique when applied to a square root volatility model also demonstrated numerically. In multiple parameter settings a separate treatment of each parameter, based on integrated likelihood techniques, is advocated as a way of avoiding the curse of dimensionality associated with ABC methods.
Effect of Heat and Cold Therapy on Labor Pain Intensity and Birth Outcomes among Primiparous Women: A Protocol for a Systematic Review and Meta-Analysis
Creators: name: Isabel Lawot
name: Dr. Pawan Kumar Sharma
name: Dr. Sunil Pokhrel
name: R. SreeRaja Kumar
name: Dr. Uppu Praveen
Publisher: name: Zenodo
Year: 2023
Subjects: Heat Cold Therapy Labor Pain.

description: Abstract
The experience of labor, characterized by its unpredictable nature, is considered one of the most agonizing ordeals for women. It is estimated that approximately forty percent of women regard the pain of labor as the most excruciating aspect of the childbirth process. Applying heat and cold on the lumbosacral region can provide certain pain relief benefits.  Aim: The main goal of the review is to evaluate how effective heat and cold therapy is in reducing labor pain and influencing the outcomes of childbirth Materials and Method: A systematic review will be conducted on randomized control trials and non-randomized control trials. In this review, Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) will be followed (Prospero Registration No-CRD42023440608) and a literature search will be conducted in PubMed-Medline, CINHAL Science Direct, databases. The literature search for this systematic review will be done on studies published between 2011 and 2023. The quality of the study will be assessed by the JBI clinical appraisal checklist for RCTs and Non-RCTs. Studies will be included based on predetermined inclusive criteria like studies published in the English language, with keywords like Primiparous woman OR Primiparous women AND Heat therapy AND Cold therapy AND Pain intensity AND Birth Outcomes Results: A descriptive synthesis of the findings of the selected studies will be carried out which will be presented in a narrative summary with statistical findings incorporated.  Conclusion: This review will provide up-to-date evidence to support or oppose the hypothesis that how effective heat and cold therapy is in reducing labor pain and influencing the outcomes of childbirth
The Corset and the Hijab: the Discursivisation of Identity Between the West and the Orient
Creators: name: Hernandes Jardim, Marilia
Publisher: name: University of Westminster
Year: 2021

description: The present thesis contains the commentary reviewing nine publications produced and submitted between 2016 and 2020. The portfolio debates the intersection of Communication and Semiotics theories, utilised in the study of Fashion and the Body as media displaying multifarious relations of communication which, through their iterations in culture, generate the interactions between human subjects, which are the foundation of the social milieu. Throughout the sections, the matter is explored in the proposition of a method to the study of rhythmic changes and their alternation, which is employed in a series of analyses addressing Western dress and the hijab, to then unfold into the works’ core contribution: the postulation of the West and the Orient in parallel, rather than viewed as opposed cultural practices. Utilising mainly the Semiotic and Socio-semiotic Theories developed by Greimas (1970, 1983, 1984, 1986, 1987, 2000; Greimas & Courtés, 1993) and Landowski (1992, 1997, 2004, 2005, 2009, 2010,2014, 2017) as a foundation to the construction of our methodology (Jardim, 2021c), the work merges Post-colonial Theory (Ahmed, 2006; Bhabha, 1994; Buruma & Margalit, 2004; Lévi-Strauss, 1952; Said, 2003; Spivak, 1999), and works about the corset (Jardim, 2014; Kunzle, 2004; Steele, 1997, 2001) and the hijab (Ahmed, 2011; El Guindi, 1999; Shirazi, 2003) to promote an examination of the objects as communication praxes constructing and disseminating ideas linked to the role of women, as well as discourses about Culture, Identity, and Religion. The investigation results in questioning multiple relations of power articulated through various media of communication—the verbal use of language and the discourses it creates but, equally, the visual dimension of the body, dress, and the imagery constructed around them— rejecting the dogmatic binaries which form our current worldview to, instead, observe the semio-narrative structures of discourses and practises which reveal the entanglement of Western and Oriental dress practices.
On a problem posed by Mahler
Creators: name: Marques, Diego
name: Schleischitz, Johannes
Publisher: name: arXiv
Year: 2015
Subjects: subject: Number Theory (math.NT)
subject: FOS: Mathematics
subject: 11J04, 11J82, 11K60

description: E. Maillet proved that the set of Liouville numbers is preserved under rational functions with rational coefficients. Based on this result, a problem posed by Kurt Mahler is to investigate whether there exist entire transcendental functions with this property or not. For large parametrized classes of Liouville numbers, we construct such functions and moreover we show that it can be constructed such that all their derivatives share this property. We use a completely different approach than in a recent paper, where functions with a different invariant subclass of Liouville numbers were constructed (though with no information on derivatives). More generally, we study the image of Liouville numbers under analytic functions, with particular attention to $f(z)=z^{q}$ where $q$ is a rational number.
description: 22 pages. D. Badziahin thankfully pointed out to us a small inaccuracy in a former version of the proof of Proposition 3.6, which is now corrected
Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants
Creators: name: Abecasis, G. R.
name: Boehnke, M.
name: Mohlke, K. L.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2008

description: Genome-wide association studies are providing new insights into the genetic basis of metabolic and cardiovascular traits. In the past 3 years, common variants in ∼50 loci have been strongly associated with metabolic and cardiovascular traits. Several of these loci have implicated genes without a previously known connection with metabolism. Further studies will be required to characterize the full impact of these loci on metabolism. Many of the identified loci include multiple independent variants that influence the same metabolic or cardiovascular trait and a few loci harbor independent variants that each influence distinct traits. The total proportion of trait heritability explained by variants identified so far is still modest (typically <10%). Future studies will build on these successes by identifying additional common and rare variants and by determining the functional impact of the underlying alleles and genes.
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain
Creators: name: Fuentes, Jennifer L.
name: Matera, A. Gregory
name: Rajendra, T.K.
name: Pellizzoni, Livio
name: Saieva, Luciano
name: Walker, Michael P.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2008

description: Spinal muscular atrophy (SMA) is a recessive neuromuscular disease caused by mutations in the human survival motor neuron 1 (SMN1) gene. The human SMN protein is part of a large macromolecular complex involved in the biogenesis of small ribonucleoproteins. Previously, we showed that SMN is a sarcomeric protein in flies and mice. In this report, we show that the entire mouse Smn complex localizes to the sarcomeric Z-disc. Smn colocalizes with α-actinin, a Z-disc marker protein, in both skeletal and cardiac myofibrils. Furthermore, this localization is both calcium- and calpain-dependent. Calpains are known to release proteins from various regions of the sarcomere as a part of the normal functioning of the muscle; however, this removal can be either direct or indirect. Using mammalian cell lysates, purified native SMN complexes, as well as recombinant SMN protein, we show that SMN is a direct target of calpain cleavage. Finally, myofibers from a mouse model of severe SMA, but not controls, display morphological defects that are consistent with a Z-disc deficiency. These results support the view that the SMN complex performs a muscle-specific function at the Z-discs.
Visualising forecasting Algorithm Performance using Time Series Instance Spaces
Creators: name: Kang, Yanfei
name: Hyndman, Rob J.
name: Smith-Miles, Kate
Publisher: name: Monash University
Year: 2022
Subjects: Econometric and statistical methods
Econometrics not elsewhere classified

description: It is common practice to evaluate the strength of forecasting methods using collections of well-studied time series datasets, such as the M3 data. But how diverse are these time series, how challenging, and do they enable us to study the unique strengths and weaknesses of different forecasting methods? In this paper we propose a visualisation method for a collection of time series that enables a time series to be represented as a point in a 2-dimensional instance space. The effectiveness of different forecasting methods can be visualised easily across this space, and the diversity of the time series in an existing collection can be assessed. Noting that the M3 dataset is not as diverse as we would ideally like, this paper also proposes a method for generating new time series with controllable characteristics to fill in and spread out the instance space, making generalisations of forecasting method performance as robust as possible.
Shortfall Deviation Risk: An alternative to risk measurement
Creators: name: Righi, Marcelo Brutti
name: Ceretta, Paulo Sergio
Publisher: name: arXiv
Year: 2015
Subjects: subject: Risk Management (q-fin.RM)
subject: Mathematical Finance (q-fin.MF)
subject: FOS: Economics and business

description: We present the Shortfall Deviation Risk (SDR), a risk measure that represents the expected loss that occurs with certain probability penalized by the dispersion of results that are worse than such an expectation. SDR combines Expected Shortfall (ES) and Shortfall Deviation (SD), which we also introduce, contemplating two fundamental pillars of the risk concept, the probability of adverse events and the variability of an expectation, and considers extreme results. We demonstrate that SD is a generalized deviation measure, whereas SDR is a coherent risk measure. We achieve the dual representation of SDR, and we discuss issues such as its representation by a weighted ES, acceptance sets, convexity, continuity and the relationship with stochastic dominance. Illustrations with real and simulated data allow us to conclude that SDR offers greater protection in risk measurement compared with VaR and ES, especially in times of significant turbulence in riskier scenarios.
Scientific Metadata: From Filesystem to Metadata Catalog
Creators: name: Pape, David
Publisher: name: Zenodo
Year: 2023
Subjects: Metadata
Scientific Metadata
Metadata Catalog
Data Management
FAIR

description: A common problem across scientific domains concerns metadata: Important information about experiments can only be found in file names and directory structures scattered around the filesystem. Fully manual or semi-automated naming of the files, or retrospective changes in the templated structure can worsen the situation by introducing inconsistencies and ambiguities. Not only can this impede scientists in their daily work, but it also prevents reuse or automated post-processing of the data. This talk will present an approach to (i) extracting the metadata from a large collection of real-world datasets suffering from these issues and (ii) improving their (machine-)actionability by ingesting the results into a dedicated metadata catalog.
Admixture mapping of quantitative trait loci for blood lipids in African-Americans
Creators: name: Tang, H.
name: Quertermous, T.
name: Lewis, C. E.
name: Risch, N. J.
name: Curb, J. D.
name: North, K.
name: Boerwinkle, E.
name: Zhu, X.
name: Basu, A.
name: Mosley, T. H.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2009

description: Blood lipid levels, including low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides (TG), are highly heritable traits and major risk factors for atherosclerotic cardiovascular disease (CVD). Using individual ancestry estimates at marker locations across the genome, we present a novel quantitative admixture mapping analysis of all three lipid traits in a large sample of African-Americans from the Family Blood Pressure Program. Regression analysis was performed with both total and marker-location-specific European ancestry as explanatory variables, along with demographic covariates. Robust permutation analysis was used to assess statistical significance. Overall European ancestry was significantly correlated with HDL-C (negatively) and TG (positively), but not with LDL-C. We found strong evidence for a novel locus underlying HDL-C on chromosome 8q, which correlated negatively with European ancestry (P = .0014); the same location also showed positive correlation of European ancestry with TG levels. A region on chromosome 14q also showed significant negative correlation between HDL-C levels and European ancestry. On chromosome 15q, a suggestive negative correlation of European ancestry with TG and positive correlation with HDL-C was observed. Results with LDL-C were less significant overall. We also found significant evidence for genome-wide ancestry effects underlying the joint distribution of HDL-C and TG, not fully explained by the locus on chromosome 8. Our results are consistent with a genetic contribution to and may explain the healthier HDL-C and TG profiles found in Blacks versus Whites. The identified regions provide locations for follow-up studies of genetic variants underlying lipid variation in African-Americans and possibly other populations.
Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study
Creators: name: Chenevix-Trench, Georgia
name: Webb, Penny M.
name: Thompson, Pamela J.
name: Ness, Roberta B.
name: Hogdall, Estrid
name: Chen, Xiaoqing
name: Van Den Berg, David J.
name: McGuire, Valerie
name: DiCioccio, Richard A.
name: Whittemore, Alice S.
name: Gentry-Maharaj, Aleksandra
name: Wu, Anna H.
name: Song, Honglin
name: Pearce, Celeste Leigh
name: Beesley, Jonathan
name: Kjaer, Susanne Krüger
name: Goodman, Marc T.
name: Rossing, Mary Anne
name: Doherty, Jennifer A.
name: Ramus, Susan J.
name: Jacobs, Ian J.
name: Hogdall, Claus
name: Moysich, Kirsten
name: Blaakaer, Jan
name: Menon, Usha
name: Carney, Michael E.
name: Chang-Claude, Jenny
name: Goode, Ellen L.
name: Wang-Gohrke, Shan
name: Lurie, Galina
name: Stram, Daniel O.
name: Vierkant, Robert A.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2009

description: Because both ovarian and breast cancer are hormone-related and are known to have some predisposition genes in common, we evaluated 11 of the most significant hits (six with confirmed associations with breast cancer) from the breast cancer genome-wide association study for association with invasive ovarian cancer. Eleven SNPs were initially genotyped in 2927 invasive ovarian cancer cases and 4143 controls from six ovarian cancer case–control studies. Genotype frequencies in cases and controls were compared using a likelihood ratio test in a logistic regression model stratified by study. Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). These four SNPs were then genotyped in an additional 4060 cases and 6308 controls from eight independent studies. Only rs4954956 was significantly associated with ovarian cancer risk both in the replication study and in combined analyses. This association was stronger for the serous histological subtype [per minor allele odds ratio (OR) 1.07 95% CI 1.01–1.13, P-trend = 0.02 for all types of ovarian cancer and OR 1.14 95% CI 1.07–1.22, P-trend = 0.00017 for serous ovarian cancer]. In conclusion, we found that rs4954956 was associated with increased ovarian cancer risk, particularly for serous ovarian cancer. However, none of the six confirmed breast cancer susceptibility variants we tested was associated with ovarian cancer risk. Further work will be needed to identify the causal variant associated with rs4954956 or elucidate its function.
Characterization of beta distribution on symmetric cones
Creators: name: Kołodziejek, Bartosz
Publisher: name: arXiv
Year: 2015
Subjects: subject: Probability (math.PR)
subject: FOS: Mathematics
subject: Primary 39B52

description: In the paper we generalize the following characterization of beta distribution to the symmetric cone setting: let $X$ and $Y$ be independent, non-degenerate random variables with values in $(0,1)$, then $U=1-XY$ and $V=\frac{1-X}{U}$ are independent if and only if there exist positive numbers $p_i$, $i=1,2,3$, such that $X$ and $Y$ follow beta distributions with parameters $(p_1+p_3,p_2)$ and $(p_3,p_1)$, respectively.
description: 12 pages. arXiv admin note: text overlap with arXiv:1403.0236, arXiv:1501.02575, arXiv:1307.3988
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Creators: name: Radice, Paolo
name: Sinilnikova, Olga M.
name: Bonanni, Bernardo
name: Ozcelik, Hilmi
name: Foretova, Lenka
name: Simard, Jacques
name: Greene, Mark H.
name: Rennert, Gad
name: Spurdle, Amanda B.
name: Beesley, Jonathan
name: Chen, Xiaoqing
name: Andrulis, Irene L.
name: Claes, Kathleen
name: Peterlongo, Paolo
name: Fredericksen, Zachary
name: Neuhausen, Susan L.
name: Ding, Yuan C.
name: Peissel, Bernard
name: Glendon, Gord
name: Heikkinen, Tuomas
name: Szabo, Csilla I.
name: Nevanlinna, Heli
name: Healey, Sue
name: McGuffog, Lesley
name: Zikan, Michal
name: Couch, Fergus J.
name: Lejbkowicz, Flavio
name: Viel, Alessandra
name: Mai, Phuong L.
name: Antoniou, Antonis C.
name: Wang, Xianshu
name: Bernard, Loris
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2009

description: Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1, also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1, rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07–1.25, P-trend = 2.8 × 10−4]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers (BRCA1: HR = 1.14, 95% CI: 1.04–1.25, P = 0.0047; BRCA2: HR = 1.18 95% CI: 1.04–1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98–1.14) was consistent with odds ratio estimates derived from population-based case–control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.
Expansion of the human μ-opioid receptor gene architecture: novel functional variants
Creators: name: Diatchenko, Luda
name: Staud, Roland
name: Zaykin, Dmitri V.
name: Fillingim, Roger B.
name: Gauthier, Josee
name: Wallace, Margaret R.
name: Tchivileva, Inna E.
name: Shabalina, Svetlana A.
name: Spiridonov, Nikolay A.
name: Mishra, Bikashkumar
name: Goldman, David
name: Belfer, Inna
name: Shibata, Kyoko
name: Ogurtsov, Aleksey Y.
name: Gris, Pavel
name: Kiselycznyk, Carly
name: Maixner, William
name: Max, Mitchell B.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2009

description: The μ-opioid receptor (OPRM1) is the principal receptor target for both endogenous and exogenous opioid analgesics. There are substantial individual differences in human responses to painful stimuli and to opiate drugs that are attributed to genetic variations in OPRM1. In searching for new functional variants, we employed comparative genome analysis and obtained evidence for the existence of an expanded human OPRM1 gene locus with new promoters, alternative exons and regulatory elements. Examination of polymorphisms within the human OPRM1 gene locus identified strong association between single nucleotide polymorphism (SNP) rs563649 and individual variations in pain perception. SNP rs563649 is located within a structurally conserved internal ribosome entry site (IRES) in the 5′-UTR of a novel exon 13-containing OPRM1 isoforms (MOR-1K) and affects both mRNA levels and translation efficiency of these variants. Furthermore, rs563649 exhibits very strong linkage disequilibrium throughout the entire OPRM1 gene locus and thus affects the functional contribution of the corresponding haplotype that includes other functional OPRM1 SNPs. Our results provide evidence for an essential role for MOR-1K isoforms in nociceptive signaling and suggest that genetic variations in alternative OPRM1 isoforms may contribute to individual differences in opiate responses.
Boundary between Stable and Unstable Regimes of Accretion. Ordered and Chaotic Unstable Regimes
Creators: name: Blinova, A. A.
name: Romanova, M. M.
name: Lovelace, R. V. E.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Solar and Stellar Astrophysics (astro-ph.SR)
subject: FOS: Physical sciences

description: We present a study of the Rayleigh-Taylor unstable regime of accretion onto rotating magnetized stars in a set of high grid resolution three-dimensional (3D) magnetohydrodynamic (MHD) simulations performed in low-viscosity discs. We find that the boundary between the stable and unstable regimes is determined almost entirely by the fastness parameter omega_s=Omega_star/Omega_K(r_m), where Omega_star is the angular velocity of the star and Omega_K(r_m) is the angular velocity of the Keplerian disc at the disc-magnetosphere boundary r=r_m. We found that accretion is unstable if omega_s < 0.6. Accretion through instabilities is present in stars with different magnetospheric sizes. However, only in stars with relatively small magnetospheres, r_m/R_star < 7, do the unstable tongues produce chaotic hot spots on the stellar surface and irregular light-curves. At even smaller values of the fastness parameter, omega_s < 0.45, multiple irregular tongues merge, forming one or two ordered unstable tongues that rotate with the angular frequency of the inner disc. This transition occurs in stars with even smaller magnetospheres, r_m/R_star < 4.2. Most of our simulations were performed at a small tilt of the dipole magnetosphere, Theta=5 degrees, and a small viscosity parameter alpha=0.02. Test simulations at higher alpha values show that many more cases become unstable, and the light-curves become even more irregular. Test simulations at larger tilts of the dipole Theta show that instability is present, however, accretion in two funnel streams dominates if Theta > 15 degrees. The results of these simulations can be applied to accreting magnetized stars with relatively small magnetospheres: Classical T Tauri stars, accreting millisecond X-ray pulsars, and cataclysmics variables.
description: 17 pages, 14 figures, published in MNRAS