cometadata/datacite-rtg-text-other-reclassification-records huggingface dataset:
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Creators: name: Le Merrer, Martine
name: Smith, Wendy E.
name: Loidi, Lourdes
name: Martin, Ludovic
name: Nitschke, Yvonne
name: du Moulin, Marcel
name: Feenstra, Ilse
name: Chikarmane, Rashmi
name: Martorell, Loreto
name: Wittkampf, Tanja
name: Deshpande, Charu
name: Lambot, Karen
name: Garber, Samuel J.
name: Chassaing, Nicolas
name: Loechner, Karen
name: Wraige, Elizabeth
name: Steinmann, Beat
name: Hadj-Rabia, Smaïl
name: Davies, Justin
name: Tazarourte-Pinturier, Marie-Frederique
name: Stella, Jacqueline
name: Rutsch, Frank
name: Botschen, Ulrike
name: Höhne, Wolfgang
name: Kahler, Stephen G.
name: Baujat, Geneviève
name: Roche, Olivier
name: McCulloch, Mignon
name: Terkeltaub, Robert
name: Guest, Geneviève
name: Shahinyan, Tatevik
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to retrospectively evaluate the phenotype of 92 probands with a clinical history of GACI. We obtained the ENPP1 genotype by conventional sequencing. In those patients with less than two disease-causing ENPP1 mutations, we sequenced ABCC6. We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. In 28 patients, no disease-causing ENPP1 mutation was found. In 14 of these patients, we detected pathogenic ABCC6 mutations (biallelic mutations in eight patients, monoallelic mutations in six patients). Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children. Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery.
title: Оценка состояния атмосферного воздуха в Великом Новгороде
Creators: name: Гусева, Вероника
Publisher: name: Новгородский государственный университет имени Ярослава Мудрого (НовГУ)
Year: 2022

description: Целью работы являются изучение качества атмосферного воздуха в Великом Новгороде за 2016–2020 гг. и сравнение среднегодовых концентраций загрязняющих веществ на стационарном посту № 4, расположенном на улице Большая Санкт-Петербургская. Для оценки загрязненности атмосферного воздуха использованы
данные наблюдений Новгородского центра по гидрометеорологии и мониторингу окружающей среды. В обзорах о состоянии и охране окружающей среды Новгородской области, ежегодно публикуемых Министерством природных ресурсов, лесного хозяйства и экологии Новгородской области, представлены сведения о содержании в атмосферном воздухе различных загрязняющих веществ. Учитываются загрязнители, поступающие в атмосферный воздух как после прохождения газоочистных устройств на организованных
источниках загрязнения, так и без очистки от организованных и неорганизованных источников загрязнения.
Tautological classes on the moduli space of hyperelliptic curves with rational tails
Creators: name: Tavakol, Mehdi
Publisher: name: arXiv
Year: 2014
Subjects: subject: Algebraic Geometry (math.AG)
subject: FOS: Mathematics
subject: 14C17, 14D22

description: We study tautological classes on the moduli space of stable $n$-pointed hyperelliptic curves of genus $g$ with rational tails. Our result gives a complete description of tautological relations. The method is based on the approach of Yin in comparing tautological classes on the moduli of curves and the universal Jacobian. It is proven that all relations come from the Jacobian side. The intersection pairings are shown to be perfect in all degrees. We show that the tautological algebra coincides with its image in cohomology via the cycle class map. The latter is identified with monodromy invariant classes in cohomology. The connection with recent conjectures by Pixton is also discussed.
description: 38 pages, 1 figure
title: Особенности различных методов проведения иммуноферментного анализа
Creators: name: Дятлова, Анастасия
Publisher: name: Новгородский государственный университет имени Ярослава Мудрого (НовГУ)
Year: 2022

description: Диагностическая информация, полученная благодаря использованию иммунохимических методов исследования, помогает существенно сократить время проведения анализа и провести скрининг с высокой точностью. В данной статье будет рассмотрен один из методов иммунохимического анализа ИХА, а именно метод
иммуноферментного анализа (ИФА). ИФА по своим характеристикам является одним из самых надежных, высокочувствительных и экономически выгодных. Используется для количественного и качественного анализа антигенов и антител. В настоящее время существует множество методик иммуноферментного анализа. Однако однозначной классификации в литературе не присутствует. Это затрудняет выявление закономерностей
и оформление сравнительных характеристик различных методов ИФА. Иммуноферментные методы, основанные на связи антител-антиген, помогают выявить или количественно определить наличие конкретных маркеров, указывающих на факт различных патологий или заболеваний.
Genome-wide Association and Population Genetic Analysis of C-Reactive Protein in African American and Hispanic American Women
Creators: name: Beleza, Sandra
name: Robinson, Jennifer G.
name: Peters, Ulrike
name: Auer, Paul L.
name: Reiner, Alex P.
name: Kooperberg, Charles
name: Tang, Hua
name: Franceschini, Nora
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: C-reactive protein (CRP) is a systemic inflammation marker that predicts future cardiovascular risk. CRP levels are higher in African Americans and Hispanic Americans than in European Americans, but the genetic determinants of CRP in these admixed United States minority populations are largely unknown. We performed genome-wide association studies (GWASs) of 8,280 African American (AA) and 3,548 Hispanic American (HA) postmenopausal women from the Women's Health Initiative SNP Health Association Resource. We discovered and validated a CRP-associated variant of triggering receptors expressed by myeloid cells 2 (TREM2) in chromosomal region 6p21 (p = 10−10). The TREM2 variant associated with higher CRP is common in Africa but rare in other ancestral populations. In AA women, the CRP region in 1q23 contained a strong admixture association signal (p = 10−17), which appears to be related to several independent CRP-associated alleles; the strongest of these is present only in African ancestral populations and is associated with higher CRP. Of the other genomic loci previously associated with CRP through GWASs of European populations, most loci (LEPR, IL1RN, IL6R, GCKR, NLRP3, HNF1A, HNF4A, and APOC1) showed consistent patterns of association with CRP in AA and HA women. In summary, we have identified a common TREM2 variant associated with CRP in United States minority populations. The genetic architecture underlying the CRP phenotype in AA women is complex and involves genetic variants shared across populations, as well as variants specific to populations of African descent.
Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project
Creators: name: Chen, Zhao
name: Ganesh, Santhi K.
name: Lange, Ethan M.
name: Fox, Keolu
name: Franceschini, Nora
name: Wallace, Robert B.
name: Johnsen, Jill M.
name: Lange, Leslie A.
name: Reiner, Alex P.
name: Nalls, Michael A.
name: O’Donnell, Christopher J.
name: Logsdon, Benjamin A.
name: Johnson, Andrew D.
name: Tang, Hua
name: Graubert, Timothy A.
name: Wilson, James G.
name: Lettre, Guillaume
name: Rich, Stephen S.
name: Auer, Paul L.
name: Jackson, Rebecca D.
name: Zhang, Guosheng
name: Li, Yun
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Researchers have successfully applied exome sequencing to discover causal variants in selected individuals with familial, highly penetrant disorders. We demonstrate the utility of exome sequencing followed by imputation for discovering low-frequency variants associated with complex quantitative traits. We performed exome sequencing in a reference panel of 761 African Americans and then imputed newly discovered variants into a larger sample of more than 13,000 African Americans for association testing with the blood cell traits hemoglobin, hematocrit, white blood count, and platelet count. First, we illustrate the feasibility of our approach by demonstrating genome-wide-significant associations for variants that are not covered by conventional genotyping arrays; for example, one such association is that between higher platelet count and an MPL c.117G>T (p.Lys39Asn) variant encoding a p.Lys39Asn amino acid substitution of the thrombpoietin receptor gene (p = 1.5 × 10−11). Second, we identified an association between missense variants of LCT and higher white blood count (p = 4 × 10−13). Third, we identified low-frequency coding variants that might account for allelic heterogeneity at several known blood cell-associated loci: MPL c.754T>C (p.Tyr252His) was associated with higher platelet count; CD36 c.975T>G (p.Tyr325∗) was associated with lower platelet count; and several missense variants at the α-globin gene locus were associated with lower hemoglobin. By identifying low-frequency missense variants associated with blood cell traits not previously reported by genome-wide association studies, we establish that exome sequencing followed by imputation is a powerful approach to dissecting complex, genetically heterogeneous traits in large population-based studies.
Supplementary material to "SnowPappus v1.0, a blowing-snow model for large-scale applications of Crocus snow scheme"
Creators: name: Baron, Matthieu
name: Haddjeri, Ange
name: Lafaysse, Matthieu
name: Toumelin, Louis Le
name: Vionnet, Vincent
name: Fructus, Mathieu
Publisher: name: Zenodo
Year: 2023
Subjects: Blowing snow

description: This is a supplementary material to future article "SnowPappus v1.0, a blowing-snow model for large-scale applications of Crocus snow scheme" It contains data and codes allowing to reproduce the main figures and results of the article. A readme file is available for more details.
anQCD: a Mathematica package for calculations in general analytic QCD models
Creators: name: Ayala, Cesar
name: Cvetic, Gorazd
Publisher: name: arXiv
Year: 2014
Subjects: subject: High Energy Physics - Phenomenology (hep-ph)
subject: FOS: Physical sciences

description: We provide a Mathematica package that evaluates the QCD analytic couplings (in the Euclidean domain) $\mathcal{A}_ν(Q^2)$, which are analytic analogs of the powers $a(Q^2)^ν$ of the underlying perturbative QCD (pQCD) coupling $a(Q^2) \equiv α_s(Q^2)/π$, in three analytic QCD models (anQCD): Fractional Analytic Perturbation Theory (FAPT), Two-delta analytic QCD (2$δ$anQCD), and Massive Perturbation Theory (MPT). The analytic (holomorphic) running couplings $\mathcal{A}_ν(Q^2)$, in contrast to the corresponding pQCD expressions $a(Q^2)^ν$, reflect correctly the analytic properties of the spacelike observables ${\cal D}(Q^2)$ in the complex $Q^2$ plane as dictated by the general principles of quantum field theory. They are thus more suited for evaluations of such physical quantities, especially at low momenta $|Q^2| \sim 1 \ {\rm GeV}^2$.
description: v3: 35 pp., 7 figs.; improved programs which work in Mathematica 9 and 10; improved presentation of the text (Sec.2 shorter, Sec.4 enlarged); to appear in Computer Physics Communications
Breaking CMB degeneracy in dark energy through LSS
Creators: name: Lee, Seokcheon
Publisher: name: arXiv
Year: 2014
Subjects: subject: Cosmology and Nongalactic Astrophysics (astro-ph.CO)
subject: FOS: Physical sciences

description: The cosmic microwave background and large scale structure are complementary probes to investigate the early and late time universe. After the current accomplishment of the high accuracies of CMB measurements, accompanying precision cosmology from LSS data is emphasized. We investigate the dynamical dark energy models which can produce the same CMB angular power spectra as that of the LCDM model with less than a sub-percent level accuracy. If one adopts the dynamical DE models using the so-called Chevallier-Polarski-Linder (CPL) parametrization, w = w0 + wa(1-a), then one obtains models (w0,wa)= (-0.8,-0.767), (-0.9,-0.375), (-1.1,0.355), (-1.2,0.688) named as M8, M9, M11, and M12, respectively. The differences of the growth rate, f which is related to the redshift space distortions (RSD) between different DE models and the LCDM model are about 0.2% only at z=0. The difference of f between M8 (M9, M11, M12) and the LCDM model becomes maximum at z ~ 0.25 with -2.4 (-1.2, 1.2, 2.5)%. This is a scale-independent quantity. One can investigate the one-loop correction of the matter power spectrum of each model using the standard perturbation theory in order to probe the scale-dependent quantity in the quasi-linear regime ({\it i.e.} k < 0.4 h/Mpc). The differences in the matter power spectra including the one-loop correction between M8 (M9, M11, M12) and the LCDM model for k= 0.4 h/Mpc scale are 1.8 (0.9, 1.2, 3.0)% at z=0, 3.0 (1.6, 1.9, 4.2)% at z=0.5, and 3.2 (1.7, 2.0, 4.5)% at z=1.0. The bigger departure from -1 of w0, the larger the difference in the power spectrum. Thus, one should use both the RSD and the quasi-linear observable in order to discriminate a viable DE model among a slew of models which are degenerated in CMB. Also we obtain the lower limit on w0 > -1.5 from the CMB acoustic peaks and this will provide the useful limitation on phantom models.
description: 9 pages, 3 figures, add more references, change typo
D3.1 Digital Twin requirements, architecture and ontology.
Creators: name: Several Authors
Publisher: name: Zenodo
Year: 2023

description: The deliverable introduces requirements, software architecture and ontology for the digitalization put in action in SPHERE project. First, the requirements are gathered together from earlier work in WP2. Then, we present the software architecture for the Digital Twin ecosystem in SPHERE together with ontology, to be validated and applied in use cases. Finally, concluding remarks are stated.
Freeness of automata groups vs boundary dynamics
Creators: name: D'Angeli, Daniele
name: Rodaro, Emanuele
Publisher: name: arXiv
Year: 2014
Subjects: subject: Group Theory (math.GR)
subject: Formal Languages and Automata Theory (cs.FL)
subject: FOS: Mathematics
subject: FOS: Computer and information sciences
subject: 20E08, 20F69, 20F65, 37E25, 68Q70, 05C63

description: We prove that the boundary dynamics of the (semi)group generated by the enriched dual transducer characterizes the algebraic property of being free for an automaton group. We specialize this result to the class of bireversible transducers and we show that the property of being not free is equivalent to have a finite Schreier graph in the boundary of the enriched dual pointed on some essentially non-trivial point. From these results we derive some consequences from the dynamical, algorithmic and algebraic point of view. In the last part of the paper we address the problem of finding examples of non-bireversible transducers defining free groups, we show examples of transducers with sink accessible from every state which generate free groups, and, in general, we link this problem to the nonexistence of certain words with interesting combinatorial and geometrical properties.
"ins879315_resources.tar.gz" of "Charged particle multiplicities in pp interactions at sqrt(s) = 0.9, 2.36, and 7 TeV"
Creators: name: CMS Collaboration
Publisher: name: HEPData
Year: 2010

description: Link to the covariant matrices of the multiplicities (unpack then view index.html)
description: CERN-LHC. Measurements of the primary charged hadron multiplicity distributions for non-single-diffreactive (NSD) events in proton-proton collisions at centre-of-mass energies of 0.9, 2.36 and 7 TeV. The data were collected with a minimum-bias trigger and cover the |pseudorapidity| range from <0.5 to < 2.4. Numerical values were supplied by the authors. Covariant matrices of the multiplicities are given in the extra information of this record.
Sustaining Research Software: Why and How
Creators: name: Katz, Daniel S.
Publisher: name: Zenodo
Year: 2022

description: Abstract: Humanity seeks new knowledge for its own purpose as well as for its potential solution to problems, situations, and crises, which at large scale, often relies on HPC systems. We want to be able to verify (or disprove) such knowledge (reproducibility), then build on it (reuse), as simply and as cost-effectively as possible. In this talk, I will focus on knowledge captured in research software, which can be both read, executed, and extended. However, software, unlike data, requires ongoing human activity to fix bugs and to adapt to frequent changes in the software and hardware environment on which it depends, as well as changing user needs. Software sustainability is the process of assembling resources and using them to do this work, including through a mix of open source communities, industrial or government support, and commercialization. This leads to a number of overlapping challenges and corresponding efforts, including making research software FAIR (findable, accessible, interoperable, and reusable), publishable, and citable, as well as considering how to support the human effort needed to maintain and sustain the software, including incentives and career paths. This talk will highlight some recent activities in these areas, including FAIR for research software principles, software citation, the Journal of Open Source Software, and software career paths.
Study of alternative ILC final focus optical configurations
Creators: name: Wang, Dou
name: Wang, Yiwei
name: Bambade, Philip
name: Gao, Jie
Publisher: name: arXiv
Year: 2014
Subjects: subject: Accelerator Physics (physics.acc-ph)
subject: FOS: Physical sciences

description: The role of the ILC final focus system (FFS) is to demagnify the beam to the sizes at the IP required to meet the ILC luminosity goals. The current design of final focus performs perfect chromaticity correction in both horizontal and vertical planes. Based on this design a set of alternative optical configurations were studied in which the horizontal beam size at the IP is increased while at the same time the vertical one is decreased, with the goal of reducing beamsstrahlung emission. Luminosity reduction due to the hour glass effect must be considered because betay*/sigmaz* becomes much smaller in this case. The beam-beam interaction simulation by Guineapig++ was used for evaluation. Reduced bunch lengths are used to make sure that the obtained luminosities are not lower than those of the ILC original (nominal) configuration.
Symbio(s)cene. Arts and sciences collaboration for an era beyond the anthropocene
Creators: name: Heger, Tina
name: Rügemer, Ingrid
name: Szasz, Oliver
Publisher: name: Zenodo
Year: 2022
Subjects: Symbiocene
Anthropocene
non-governmental organization
arts and sciences collaboration
human-nature relationship
positive visions

description: Poster presented at the World Biodiversity Forum at Davos, June 2022. Abstract: Symbio(s)cene is a non-profit initiative with a vision to contribute to shaping a new mindset that promotes thinking beyond the Anthropocene. The biodiversity and climate crises make global, profound and transformative change urgently necessary. We are convinced that a new way of thinking, rooted in a renewed humans-nature relationship, is necessary to promote this change. It requires a new awareness of nature, an openness to and appreciation of other living things, and a new aesthetic that appreciates the beneficial character of natural materials and structures. With the Symbio(s)cene initiative, we want to show examples that demonstrate that a future worth living in is already within reach, and we want to contribute with projects that accelerate the emergence of a new mentality that embraces a positive human-nature relationship. The distinctive proposition of our initiative is a holistic approach that interconnects sciences and arts – giving space to both cognitive and emotional dimensions of knowledge. The poster will present our motivation and goals, and will provide examples for current and future activities.
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
Creators: name: Padmanabhan, Sandosh
name: Li, Yun R.
name: Meijs, Matthijs F.L.
name: Guo, Yiran
name: Beitelshees, Amber L.
name: Kleber, Marcus E.
name: van Iperen, Erik P.A.
name: Chen, Yii-Der Ida
name: Li, Mingyao
name: Liu, Kiang
name: Appelman, Yolande E.
name: Gong, Yan
name: Gaunt, Tom R.
name: McDonough, Caitrin W.
name: Langaee, Taimour Y.
name: Asselbergs, Folkert W.
name: Barnard, John
name: Almoguera, Berta
name: Nelson, Christopher P.
name: Pankratz, Nathan
name: Bhangale, Tushar R.
name: O’Connell, Jeffery R.
name: Tragante, Vinicius
name: Sivapalaratnam, Suthesh
name: Baumert, Jens
name: Lange, Leslie A.
name: Pankow, James S.
name: Middelberg, Rita P.S.
name: Lanktree, Matthew B.
name: Hopewell, Jemma C.
name: Musunuru, Kiran
name: Johnson, Toby
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TGs), can be identified by a dense gene-centric approach. Our meta-analysis of 32 studies in 66,240 individuals of European ancestry was based on the custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) covering ∼2,000 candidate genes. SNP-lipid associations were replicated either in a cohort comprising an additional 24,736 samples or within the Global Lipid Genetic Consortium. We identified four, six, ten, and four unreported SNPs in established lipid genes for HDL-C, LDL-C, TC, and TGs, respectively. We also identified several lipid-related SNPs in previously unreported genes: DGAT2, HCAR2, GPIHBP1, PPARG, and FTO for HDL-C; SOCS3, APOH, SPTY2D1, BRCA2, and VLDLR for LDL-C; SOCS3, UGT1A1, BRCA2, UBE3B, FCGR2A, CHUK, and INSIG2 for TC; and SERPINF2, C4B, GCK, GATA4, INSR, and LPAL2 for TGs. The proportion of explained phenotypic variance in the subset of studies providing individual-level data was 9.9% for HDL-C, 9.5% for LDL-C, 10.3% for TC, and 8.0% for TGs. This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple SNPs not previously described in established lipid genes and several previously unknown loci. The explained phenotypic variance from this approach was comparable to that from a meta-analysis of GWAS data, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids.
Memristor models for machine learning
Creators: name: Carbajal, Juan Pablo
name: Dambre, Joni
name: Hermans, Michiel
name: Schrauwen, Benjamin
Publisher: name: arXiv
Year: 2014
Subjects: subject: Machine Learning (cs.LG)
subject: Materials Science (cond-mat.mtrl-sci)
subject: FOS: Computer and information sciences
subject: FOS: Physical sciences

description: In the quest for alternatives to traditional CMOS, it is being suggested that digital computing efficiency and power can be improved by matching the precision to the application. Many applications do not need the high precision that is being used today. In particular, large gains in area- and power efficiency could be achieved by dedicated analog realizations of approximate computing engines. In this work, we explore the use of memristor networks for analog approximate computation, based on a machine learning framework called reservoir computing. Most experimental investigations on the dynamics of memristors focus on their nonvolatile behavior. Hence, the volatility that is present in the developed technologies is usually unwanted and it is not included in simulation models. In contrast, in reservoir computing, volatility is not only desirable but necessary. Therefore, in this work, we propose two different ways to incorporate it into memristor simulation models. The first is an extension of Strukov's model and the second is an equivalent Wiener model approximation. We analyze and compare the dynamical properties of these models and discuss their implications for the memory and the nonlinear processing capacity of memristor networks. Our results indicate that device variability, increasingly causing problems in traditional computer design, is an asset in the context of reservoir computing. We conclude that, although both models could lead to useful memristor based reservoir computing systems, their computational performance will differ. Therefore, experimental modeling research is required for the development of accurate volatile memristor models.
description: 4 figures, no tables. Submitted to neural computation
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Creators: name: Shore, Roger C.
name: Aldred, Michael J.
name: Barron, Martin
name: Dixon, Michael J.
name: Al-Bahlani, Suhaila
name: Carr, Ian M.
name: Brookes, Steven J.
name: Morgan, Joanne E.
name: Poulter, James A.
name: Sayed, Jihad
name: Logan, Clare V.
name: Taylor, Graham R.
name: Raïf, El Mostafa
name: Wright, J. Tim
name: Inglehearn, Chris F.
name: Dashash, Mayssoon
name: Al Harasi, Sharifa
name: Kirkham, Jennifer
name: Johnson, Colin A.
name: El-Sayed, Walid
name: Mighell, Alan J.
name: Parry, David A.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails. Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26. C4orf26 encodes a putative extracellular matrix acidic phosphoprotein expressed in the enamel organ. A mineral nucleation assay showed that the protein’s phosphorylated C terminus has the capacity to promote nucleation of hydroxyapatite, suggesting a possible function in enamel mineralization during amelogenesis.
Supporting Information for "Isotope ratio – discharge relationships of solutes derived from weathering reactions"
Creators: name: Druhan, Jennifer
name: Benettin, Paolo
Publisher: name: Zenodo
Year: 2023

description: Supporting information for the article "Isotope Ratio – Discharge Relationships of Solutes Derived From Weathering Reactions" published on the American Journal of Science in 2023 (https://doi.org/10.2475/001c.84469)
title: Северный морской путь как магистраль социальной жизни
Creators: name: Егорова, Ксения
Publisher: name: Новгородский государственный университет имени Ярослава Мудрого (НовГУ)
Year: 2022

description: Изучением течений в Северном Ледовитом океане (Карское и Восточно-Сибирское моря) занималась русская морская экспедиция под руководством Э. Толля, организованная в 1900 г., после которой начали устраиваться штатные рейсы грузопассажирского назначения из Владивостока на Колыму. Северный морской путь
(СМП) в годы Великой Отечественной войны являлся стратегическим маршрутом, который использовали для прохода не только боевых, но и транспортных кораблей, доставляющих продовольствие из восточных регионов в Баренцево Море. Основная задача СМП заключается в снабжении районов, находящихся за полярным кругом, нужными ресурсами для строительства и эксплуатации предприятий, в особенности горнодобывающих
комбинатов. Для России СМП является ключевой возможностью для развития связей с зарубежными странами, заинтересованными в быстрой доставке грузов.
D3.1 - Report on construction, performance and optimization of BEM reactors
Creators: name: Leitat Technological Center
Publisher: name: Zenodo
Year: 2024
Subjects: electromethanogenesis
process optimization
CO2 conversion
industrial gaseous effluents
gas impurities
process resistance
process resilience
industrial integration
bio-electrochemical methanation

description: This document (Deliverable D3.1 on “Report on construction, performance and optimization of BEM reactors”) summarizes the work developed under NET-Fuels WP3 (Bioelectrochemical process for CO2 conversion to CH4 from off-gas streams), Task 3.1 (Reactor design, construction and start-up) and 3.2 (BEM process optimization) led by Leitat, in the period of 01/11/2022 to 31/10/2024 (M1-M24). Task 3.1 had as main objective the design of a BEM reactor based on a feasible and realistic scalable configuration and manufactured employing current industrial techniques. Task 3.2 had as main aim the BEM process optimization. Deliverable D3.1 mainly contains the outputs of the laboratory experimental campaign carried over during Tasks 3.1 and 3.2, and it is also particularly relevant for the work under development in WP3 tasks T3.3 (Technology piloting with real gas effluents) and T3.4 (BEM operation and validation). D3.1 has not only reported the completion of the work of task T3.1 and 3.2, but it also serves as means of verification for the achievement of NET-Fuels Milestone M3.1 (“Laboratory BEM operation optimized in synthetic gas conditions”).
Whole-Exome Capture and Sequencing Identifies  HEATR2  Mutation as a Cause of Primary Ciliary Dyskinesia
Creators: name: Druley, Todd E.
name: Levinson, Benjamin T.
name: Turner, Emily H.
name: Knowles, Michael R.
name: Horani, Amjad
name: Ferkol, Thomas W.
name: Patel, Anand C.
name: Dutcher, Susan K.
name: Van Arendonk, Laura G.
name: Leigh, Margaret W.
name: Bayly, Philip V.
name: Giacalone, Joe C.
name: Shendure, Jay
name: Thornton, Katherine C.
name: Nickerson, Deborah A.
name: Zariwala, Maimoona A.
name: Brody, Steven L.
name: Wilson, Kate S.
name: Albee, Alison J.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Motile cilia are essential components of the mucociliary escalator and are central to respiratory-tract host defenses. Abnormalities in these evolutionarily conserved organelles cause primary ciliary dyskinesia (PCD). Despite recent strides characterizing the ciliome and sensory ciliopathies through exploration of the phenotype-genotype associations in model organisms, the genetic bases of most cases of PCD remain elusive. We identified nine related subjects with PCD from geographically dispersed Amish communities and performed exome sequencing of two affected individuals and their unaffected parents. A single autosomal-recessive nonsynonymous missense mutation was identified in HEATR2, an uncharacterized gene that belongs to a family not previously associated with ciliary assembly or function. Airway epithelial cells isolated from PCD-affected individuals had markedly reduced HEATR2 levels, absent dynein arms, and loss of ciliary beating. MicroRNA-mediated silencing of the orthologous gene in Chlamydomonas reinhardtii resulted in absent outer dynein arms, reduced flagellar beat frequency, and decreased cell velocity. These findings were recapitulated by small hairpin RNA-mediated knockdown of HEATR2 in airway epithelial cells from unaffected donors. Moreover, immunohistochemistry studies in human airway epithelial cells showed that HEATR2 was localized to the cytoplasm and not in cilia, which suggests a role in either dynein arm transport or assembly. The identification of HEATR2 contributes to the growing number of genes associated with PCD identified in both individuals and model organisms and shows that exome sequencing in family studies facilitates the discovery of novel disease-causing gene mutations.
Time-distance helioseismology: A new averaging scheme for measuring flow vorticity
Creators: name: Langfellner, Jan
name: Gizon, Laurent
name: Birch, Aaron C.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Solar and Stellar Astrophysics (astro-ph.SR)
subject: FOS: Physical sciences

description: Time-distance helioseismology provides information about vector flows in the near-surface layers of the Sun by measuring wave travel times between points on the solar surface. Specific spatial averages of travel times have been proposed for distinguishing between flows in the east-west and north-south directions and measuring the horizontal divergence of the flows. No specific measurement technique has, however, been developed to measure flow vorticity. Here we propose a new measurement technique tailored to measuring the vertical component of vorticity. Fluid vorticity is a fundamental property of solar convection zone dynamics and of rotating turbulent convection in particular. The method consists of measuring the travel time of waves along a closed contour on the solar surface in order to approximate the circulation of the flow along this contour. Vertical vorticity is related to the difference between clockwise and counter-clockwise travel times. We applied the method to characterize the vortical motions of solar convection using helioseismic data from the Helioseismic and Magnetic Imager onboard the Solar Dynamics Observatory (SDO/HMI) and from the Michelson Doppler Imager onboard the Solar and Heliospheric Observatory (SOHO/MDI). Away from the equator, a clear correlation between vertical vorticity and horizontal divergence is detected. Horizontal outflows are associated with negative vorticity in the northern hemisphere and positive vorticity in the southern hemisphere. The signal is much stronger for HMI than for MDI observations. We characterize the spatial power spectrum of the signal by comparison with a noise model. Vertical vorticity at horizontal wavenumbers below 250/R_Sun can be probed with this helioseismic technique.
description: 7 pages, 6 figures
Letter from Paul Nash to John Betjeman, December 11, 1935
Creators: name: Nash, Paul, 1889-1946
Publisher: name: University of Victoria Libraries
Year: 2023
Subjects: subject: Nash, Paul, 1889-1946
valueUri: http://id.worldcat.org/fast/16173
subject: Authors, English
valueUri: http://id.worldcat.org/fast/821945
subject: Betjeman, John, 1906-1984
valueUri: http://id.worldcat.org/fast/1427507
subject: Literature, Modern
valueUri: http://id.worldcat.org/fast/1000172
subject: Authors
valueUri: http://id.worldcat.org/fast/821688
subject: Poets, English
valueUri: http://id.worldcat.org/fast/1067870
subject: Modernism (Literature)
valueUri: http://id.worldcat.org/fast/1024455
subject: Poets
valueUri: http://id.worldcat.org/fast/1067778
subject: Television journalists
valueUri: http://id.worldcat.org/fast/1146949
subject: Authors, English--Correspondence
valueUri: http://id.worldcat.org/fast/821953

description: Correspondence between John Betjemen and artist Paul Nash. Nash asks Betjeman if they can meet to go over what he has done so far for the Shell Guide to Dorset.
Cloud Radio-Multistatic Radar: Joint Optimization of Code Vector and Backhaul Quantization
Creators: name: Khalili, Shahrouz
name: Simeone, Osvaldo
name: Haimovich, Alexander M.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Statistics Theory (math.ST)
subject: Information Theory (cs.IT)
subject: Computation (stat.CO)
subject: FOS: Mathematics
subject: FOS: Computer and information sciences

description: A multistatic radar set-up is considered in which distributed receive antennas are connected to a Fusion Center (FC) via limited-capacity backhaul links. Similar to cloud radio access networks in communications, the receive antennas quantize the received baseband signal before transmitting it to the FC. The problem of maximizing the detection performance at the FC jointly over the code vector used by the transmitting antenna and over the statistics of the noise introduced by backhaul quantization is investigated. Specifically, adopting the information-theoretic criterion of the Bhattacharyya distance to evaluate the detection performance at the FC and information-theoretic measures of the quantization rate, the problem at hand is addressed via a Block Coordinate Descent (BCD) method coupled with Majorization-Minimization (MM). Numerical results demonstrate the advantages of the proposed joint optimization approach over more conventional solutions that perform separate optimization.
description: To be published in IEEE Signal Processing Letters
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Creators: name: Omran, Heymut
name: Zariwala, Maimoona A.
name: Abouhamed, Marouan
name: Katsanis, Nicholas
name: Liu, Xiaoqin
name: Olbrich, Heike
name: Häffner, Karsten
name: Pennekamp, Petra
name: Knowles, Michael R.
name: Loges, Niki T.
name: Davis, Erica E.
name: Pehlivan, Davut
name: Morgan, Lucy C.
name: Dougherty, Gerard W.
name: Hjeij, Rim
name: Rosenfeld, Margaret
name: Li, You
name: Damerla, Rama
name: Leigh, Margaret W.
name: Carvalho, Claudia M.B.
name: Reyes-Mugica, Miguel
name: Lo, Cecilia W.
name: Raidt, Johanna
name: Lupski, James R.
name: Francis, Richard
name: Lindstrand, Anna
name: Köhler, Gabriele
name: Werner, Claudius
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. In humans, defects in structural components, docking complexes, or cytoplasmic assembly factors can cause primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease and defects in laterality. By using combined high resolution copy-number variant and mutation analysis, we identified ARMC4 mutations in twelve PCD individuals whose cells showed reduced numbers of ODAs and severely impaired ciliary beating. Transient suppression in zebrafish and analysis of an ENU mouse mutant confirmed in both model organisms that ARMC4 is critical for left-right patterning. We demonstrate that ARMC4 is an axonemal protein that is necessary for proper targeting and anchoring of ODAs.
Letter from Paul Nash to John Betjeman, August 1939
Creators: name: Nash, Paul, 1889-1946
Publisher: name: University of Victoria Libraries
Year: 2023
Subjects: subject: Television journalists
valueUri: http://id.worldcat.org/fast/1146949
subject: Nash, Paul, 1889-1946
valueUri: http://id.worldcat.org/fast/16173
subject: Modernism (Literature)
valueUri: http://id.worldcat.org/fast/1024455
subject: Poets
valueUri: http://id.worldcat.org/fast/1067778
subject: Betjeman, John, 1906-1984
valueUri: http://id.worldcat.org/fast/1427507
subject: Poets, English
valueUri: http://id.worldcat.org/fast/1067870
subject: Authors
valueUri: http://id.worldcat.org/fast/821688
subject: Authors, English--Correspondence
valueUri: http://id.worldcat.org/fast/821953
subject: Authors, English
valueUri: http://id.worldcat.org/fast/821945
subject: Literature, Modern
valueUri: http://id.worldcat.org/fast/1000172

description: Correspondence between John Betjemen and artist Paul Nash. Nash thanks Betjeman for his lists as they are needed now. He mentions there is a meeting the next day, and includes his material for Esher (a town in Surrey, England).
Letter from William Plomer to John Betjeman, April 14, 1943
Creators: name: Plomer, William, 1903-1973
Publisher: name: University of Victoria Libraries
Year: 2023
Subjects: subject: Authors
valueUri: http://id.worldcat.org/fast/821688
subject: Literature, Modern
valueUri: http://id.worldcat.org/fast/1000172
subject: Poets, English
valueUri: http://id.worldcat.org/fast/1067870
subject: Authors, English--Correspondence
valueUri: http://id.worldcat.org/fast/821953
subject: Authors, English
valueUri: http://id.worldcat.org/fast/821945
subject: Poets
valueUri: http://id.worldcat.org/fast/1067778
subject: Plomer, William, 1903-1973
valueUri: http://id.worldcat.org/fast/32868
subject: Modernism (Literature)
valueUri: http://id.worldcat.org/fast/1024455
subject: Television journalists
valueUri: http://id.worldcat.org/fast/1146949
subject: Betjeman, John, 1906-1984
valueUri: http://id.worldcat.org/fast/1427507

description: Part of a collection of letters to John Betjeman from William Plomer (British poet, novelist and literary editor). Plomer sends Betjeman an advertisement copied from the New Statesman magazine. He encourages Betjeman to visit him soon and bring news about the Epic.
VLT/X-shooter survey of near-infrared diffuse interstellar bands
Creators: name: Cox, N. L. J.
name: Cami, J.
name: Kaper, L.
name: Ehrenfreund, P.
name: Foing, B. H.
name: Ochsendorf, B. B.
name: van Hooff, S. H. M.
name: Salama, F.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Astrophysics of Galaxies (astro-ph.GA)
subject: FOS: Physical sciences

description: This paper presents a spectral survey of diffuse interstellar bands (DIBs) in the NIR range, from 0.9 to 2.5 micron. The observations were designed to detect new DIBs, confirm previously proposed NIR DIBs, and characterise their behaviour with respect to known line-of-sight properties (including the optical DIBs present in our spectra). X-shooter at the VLT was used to obtained medium-resolution spectra of eight known DIB targets and one telluric reference star. In addition to the known 9577, 9632, 10780, 11797, and 13175 Angstroms NIR DIBs, we confirm 9 out of the 13 NIR DIBs that were presented by Geballe and co-workers in 2011. Furthermore, we report 12 new NIR DIB candidates. The strengths of the strongest NIR DIBs show a general correlation with reddening, E(B-V), but with a large scatter. Several NIR DIBs are more strongly correlated with the 5780 Angstroms DIB strength than with E(B-V); this is especially the case for the 15268 Angstroms DIB. The NIR DIBs are strong: the summed equivalent widths of the five strongest NIR DIBs represent a few percent of the total equivalent width of the entire average DIB spectrum (per unit reddening). The NIR DIBs towards the translucent cloud HD 147889 are all weak with respect to the general trend. No direct match was found between observed NIR DIBs and laboratory matrix-isolation spectroscopic data of PAHs. The strong correlation between the 5780-15268 DIB pair implies that (Nf)_5780 / (Nf)_15268 = 14. However, the reduced strength of the 15268 Angstroms DIB in HD 147889 rules out a common carrier for these two DIBs. Since the ionisation fraction for small PAHs in this translucent cloud is known to be low compared to diffuse clouds, the weakness of the 15268 Angstrom DIB suggests that an ionised species could be the carrier of this NIR DIB. (abridged).
description: Accepted for publication in A&A. 13 pages. Revision
Convergence of Derivative Expansion in Supersymmetric Functional RG Flows
Creators: name: Heilmann, Marianne
name: Hellwig, Tobias
name: Knorr, Benjamin
name: Ansorg, Marcus
name: Wipf, Andreas
Publisher: name: arXiv
Year: 2014
Subjects: subject: High Energy Physics - Theory (hep-th)
subject: FOS: Physical sciences

description: We confirm the convergence of the derivative expansion in two supersymmetric models via the functional renormalization group method. Using pseudo-spectral methods, high-accuracy results for the lowest energies in supersymmetric quantum mechanics and a detailed description of the supersymmetric analogue of the Wilson-Fisher fixed point of the three-dimensional Wess-Zumino model are obtained. The superscaling relation proposed earlier, relating the relevant critical exponent to the anomalous dimension, is shown to be valid to all orders in the supercovariant derivative expansion and for all $d \ge 2$.
Dynamics of 3D SUSY Gauge Theories with Antisymmetric Matter
Creators: name: Csáki, Csaba
name: Martone, Mario
name: Shirman, Yuri
name: Tanedo, Philip
name: Terning, John
Publisher: name: arXiv
Year: 2014
Subjects: subject: High Energy Physics - Theory (hep-th)
subject: High Energy Physics - Phenomenology (hep-ph)
subject: FOS: Physical sciences

description: We investigate the IR dynamics of N=2 SUSY gauge theories in 3D with antisymmetric matter. The presence of the antisymmetric fields leads to further splitting of the Coulomb branch. Counting zero modes in the instanton background suggests that more than a single direction along the Coulomb branch may remain unlifted. We examine the case of SU(4) with one or two antisymmetric fields and various flavors in detail. Using the results for the corresponding 4D theories, we find the IR dynamics of the 3D cases via compactification and a real mass deformation. We find that for the s-confining case with two antisymmetric fields, a second unlifted Coulomb branch direction indeed appears in the low-energy dynamics. We present several non-trivial consistency checks to establish the validity of these results. We also comment on the expected structure of general s-confining theories in 3D, which might involve several unlifted Coulomb branch directions.
description: 18 pages + appendices and references, 3 figures; v2: references corrected and updated
Letter from William Plomer to John Betjeman, September 08, 1947
Creators: name: Plomer, William, 1903-1973
Publisher: name: University of Victoria Libraries
Year: 2023
Subjects: subject: Authors, English--Correspondence
valueUri: http://id.worldcat.org/fast/821953
subject: Authors, English
valueUri: http://id.worldcat.org/fast/821945
subject: Literature, Modern
valueUri: http://id.worldcat.org/fast/1000172
subject: Modernism (Literature)
valueUri: http://id.worldcat.org/fast/1024455
subject: Poets
valueUri: http://id.worldcat.org/fast/1067778
subject: Betjeman, John, 1906-1984
valueUri: http://id.worldcat.org/fast/1427507
subject: Authors
valueUri: http://id.worldcat.org/fast/821688
subject: Plomer, William, 1903-1973
valueUri: http://id.worldcat.org/fast/32868
subject: Television journalists
valueUri: http://id.worldcat.org/fast/1146949
subject: Poets, English
valueUri: http://id.worldcat.org/fast/1067870

description: Part of a collection of letters to John Betjeman from William Plomer (British poet, novelist and literary editor). Plomer tells Betjeman that he has enclosed Hassall's rough script for his archives or preface, He also mentions that he passed on Betjeman's message to Joe Ackerley, who was happy to receive it.