bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Authors: Kreienkamp Hans-Jürgen , Wagner Matias , Weigand Heike , McConkie-Rossell Allyn , McDonald Marie , Keren Boris , Mignot Cyril , Gauthier Julie , Soucy Jean-François , Michaud Jacques L. , Dumas Meghan , Smith Rosemarie , Löbel Ulrike , Hempel Maja , Kubisch Christian , Denecke Jonas , Campeau Philippe M. , Bain Jennifer M. , Lessel Davor 
Published: December 2021

AbstractBain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. Although it was initially postulated that the condition would not be compatible with life in males, several affected male individuals harboring pathogenic variants in HNRNPH2 have since been documented. However, functional in-vitro analyses of identified variants have not been performed and, therefore, possible genotype–phenotype correlations remain elusive. Here, we present eight male individuals, including a pair of monozygotic twins, harboring pathogenic or likely pathogenic HNRNPH2 variants. Notably, we present the first individuals harboring nonsense or frameshift variants who, similarly to an individual harboring a de novo p.(Arg29Cys) variant within the first quasi-RNA-recognition motif (qRRM), displayed mild developmental delay, and developed mostly autistic features and/or psychiatric co-morbidities. Additionally, we present two individuals harboring a recurrent de novo p.(Arg114Trp), within the second qRRM, who had a severe neurodevelopmental delay with seizures. Functional characterization of the three most common HNRNPH2 missense variants revealed dysfunctional nucleocytoplasmic shuttling of proteins harboring the p.(Arg206Gln) and p.(Pro209Leu) variants, located within the nuclear localization signal, whereas proteins with p.(Arg114Trp) showed reduced interaction with members of the large assembly of splicing regulators (LASR). Moreover, RNA-sequencing of primary fibroblasts of the individual harboring the p.(Arg114Trp) revealed substantial alterations in the regulation of alternative splicing along with global transcriptome changes. Thus, we further expand the clinical and variant spectrum in HNRNPH2-associated disease in males and provide novel molecular insights suggesting the disorder to be a spliceopathy on the molecular level.
Important Key Process Simulations in the Field of Steel Metallurgy
Authors: Ludwig A. , Rodrigues C. M. G. , Zhang Z. , Zhang H. , Karimi-Sibaki E. , Barati H. , Vakhrushev A. , Al-Nasser M. , Wu M. , Kharicha A. 
Published: December 2021

AbstractDuring the last decade, the chair for ‘Simulation and Modelling of Metallurgical Processes’ (SMMP) has worked on different metallurgical processes with the highlights of the following five industrial relevant topics: (i) modelling the as-cast structures of large steel castings; (ii) exploring the formation mechanisms of macrosegregation; (iii) describing magnetohydrodynamic and electrochemical phenomena in remelting processes, (iv) understanding how solidification and flow can be influenced by magnetohydrodynamics during steel continuous casting; and (v) describing nozzle clogging in steelmaking processes. In this contribution, the main achievements from the group on the above five topics are briefly described.
A comparative assessment and unification of bond models in DEM simulations
Authors: Chen Xizhong , Peng Di , Morrissey John P. , Ooi Jin Y. 
Published: December 2021

AbstractBonded contact models have been increasingly used in the discrete element method (DEM) to study cemented and sintered particulate materials in recent years. Several popular DEM bond models have been proposed in the literature; thus it is beneficial to assess the similarities and differences between the different bond models before they are used in simulations. This paper identifies and discusses two fundamental types of bond models: the Spring Bond Model where two bonded particles are joined by a set of uniform elastic springs on the bond’s cross-section, and the Beam Bond Model in which a beam is used to connect the centres of two particles. A series of cantilever beam bending simulation cases were carried out to verify the findings and assess the strength and weakness of the bond models. Despite the numerous bond models described in the literature, they can all be considered as a variation of these two fundamental model types. The comparative evaluation in this paper also shows that all the bond models investigated can be unified to a general form given at a predefined contact point location.
Mass spectrometry analysis of the photosystem II assembly factor Psb27 revealed variations in its lipid modification
Authors: Lambertz Jan , Liauw Pasqual , Whitelegge Julian P. , Nowaczyk Marc M. 
Published: December 2021

AbstractThe assembly of large, multi-cofactor membrane protein complexes like photosystem II (PSII) requires a high level of coordination. The process is facilitated by a large network of auxiliary proteins that bind transiently to unassembled subunits, preassembled modules or intermediate states of PSII, which are comprised of a subset of subunits. However, analysis of these immature, partially assembled PSII complexes is hampered by their low abundance and intrinsic instability. In this study, PSII was purified from the thermophilic cyanobacterium Thermosynechococcus elongatus via Twin-Strep-tagged CP43 and further separated by ion exchange chromatography into mature and immature complexes. Mass spectrometry analysis of the immature Psb27-PSII intermediate revealed six different Psb27 proteoforms with distinct lipid modifications. The maturation and functional role of thylakoid localized lipoproteins are discussed.
Parteiendifferenz in der Waldpolitik. Eine Analyse der deutschen Bundesländer
Authors: Hartung Ulrich , Jankowski Michael , Müller Jochen 
Published: December 2021

ZusammenfassungWelche Bedeutung messen die Landesparteien der Waldpolitik bei? Welche Waldfunktionen priorisieren sie? Inwieweit sind ihre Positionen von Parteiendifferenzen geprägt? Um diese Forschungsfragen zu adressieren, führen wir eine textanalytische Auswertung von Landtagswahlprogrammen durch, die im Zeitraum von 1990 bis 2019 veröffentlicht wurden. Unsere Analysen zeigen, dass die Positionen der Parteien nicht nur vom regionalen Kontext geprägt, sondern auch Ausdruck fundamental unterschiedlicher Perspektiven auf die Waldpolitik sind. Wir stellen fest, dass linke Parteien, insbesondere B’90/Grüne, eine schutzorientierte Politik befürworten, wohingegen CDU/CSU und FDP deren nutzorientierte Ausrichtung unterstützen. Bemerkenswert ist ferner, dass die Parteien sehr unterschiedliches Gewicht auf das Politikfeld legen. Während sich CDU/CSU, FDP und die Grünen umfangreich mit Waldpolitik beschäftigen, messen ihr Die Linke, die SPD und vor allem die AfD weniger Bedeutung bei. Veränderungen im Zeitverlauf zeigen sich nur begrenzt: zwar widmen sich die Parteien dem Thema häufiger, es ist aber keine Positionsverschiebung feststellbar, die eine sich verändernde Perspektive auf die Waldpolitik widerspiegeln würde.
Finding normal modes of a loaded string with the method of Lagrange multipliers
Authors: Jung Dong-Won , Han Wooyong , Kim U-Rae , Lee Jungil , Yu Chaehyun ,   KPOPℰ Collaboration
Published: December 2021

AbstractWe consider the normal mode problem of a vibrating string loaded with n identical beads of equal spacing, which involves an eigenvalue problem. Unlike the conventional approach to solving this problem by considering the difference equation for the components of the eigenvector, we modify the eigenvalue equation by introducing matrix-valued Lagrange undetermined multipliers, which regularize the secular equation and make the eigenvalue equation non-singular. Then, the eigenvector can be obtained from the regularized eigenvalue equation by multiplying the indeterminate eigenvalue equation by the inverse matrix. We find that the inverse matrix is nothing but the adjugate matrix of the original matrix in the secular determinant up to the determinant of the regularized matrix in the limit that the constraint equation vanishes. The components of the adjugate matrix can be represented in simple factorized forms. Finally, one can directly read off the eigenvector from the adjugate matrix. We expect this new method to be applicable to other eigenvalue problems involving more general forms of the tridiagonal matrices that appear in classical mechanics or quantum physics.
Chromosome morphology and cytomolecular characteristics of the perennial rye cultivar ‘Kriszta’
Authors: Szőke-Pázsi Kitti , Türkösi Edina , Szakács Éva 
Published: December 2021

AbstractThe perennial Secale cereanum cultivar ‘Kriszta’ is an artificial hybrid of S. cereale and S. strictum ssp. anatolicum. From the cross between the wheat line Mv9kr1 and ‘Kriszta’, which aimed the transfer of beneficial traits from rye to wheat, numerous translocation lines have been produced. For the identification of the translocated chromosomes, the unambiguous differentiation between chromosome arms of ‘Kriszta’ is essential. The identification of its short chromosome arms using conventional FISH probes is easy, but because of their similar hybridization patterns, its long arms cannot be distinguished. The present study aimed to create the detailed karyotype of ‘Kriszta’, especially that of long arms, by both chromosome measurements and FISH using highly repetitive, as well as subtelomeric tandem repeat, and synthetic microsatellite DNA sequences. Our results indicate that the chromosome complement of ‘Kriszta’ is not a simple combination of the chromosomes of the parental rye species but is composed of rearranged chromosomes. It is also showed that an adequate pair-wise combination of the DNA sequences pSc119.2, pSc200, pSc250, and (AAC)5 makes it possible to identify any of the long arms of S. cereanum cv. Kriszta chromosomes. The future usability of the identified wheat- ‘Kriszta’ translocated chromosomes is also discussed.
A physical education/environmental education nexus: Transdisciplinary approaches to curriculum for a sense of belonging
Authors: Riley Kathryn , Proctor Lynden 
Published: December 2021

AbstractPhysical education (PE) is a site that brings categories of difference under erasure, presenting a wicked problem for how a sense of belonging is cultivated for all learners to foster physical activity, health and wellbeing across the lifespan. This article explores how, we, as two teachers of PE, turned to postqualitative and ‘new’ materialist inquiry to generate a sense of belonging within a PE/environmental education nexus. Taking up Karen Barad’s agential realism and Gilles Deleuze and Félix Guattari’s rhizome, we conceptualise this PE/environmental education nexus as a transdisciplinary approach to curriculum that enacts a knowing/being/thinking/doing between, and across, borders, boundaries, categories, fields and practices. We then show how this nexus was actualised in our teaching practices through two vignettes. As transdisciplinary approaches to curriculum are grounded in the lived, embodied and embedded (micro) politics of location, individuals are imbued with affective obligation to enact affirmative patterns of relating moment-to-moment. This means that a sense of belonging is always imminent, invented and co-created, bringing attention to situated obligations to enact good relations with ourselves, each other and wider planetary systems.
Dural Venous Sinus Thrombosis and Papilledema Related to JAK2 Mutation: A Case Series
Authors: Donaldson Laura , Dhoot Arjan S. , Margolin Edward 
Published: December 2021

ABSTRACT:Background:Dural venous sinus thrombosis (DVST) is an important cause of papilledema. Patients diagnosed with DVST should undergo work-up for underlying hypercoagulable state, including genetic causes. One important prothrombotic mutation is in the JAK2 gene, which is a driver of myeloproliferative neoplasms including polycythemia vera (PV). We aimed to determine the prevalence of JAK2 mutation in patients in presenting to neuro-ophthalmology clinic with DVST and papilledema.Methods:Retrospective case series of patients seen in a tertiary neuro-ophthalmology practice who presented with papilledema due to DVST and were investigated for presence of JAK2 mutation.Results:Four out of 15 patients with DVST (26%) were found to have JAK2 V617F mutation which led to subsequent diagnosis of PV in 2. One additional patient had a known diagnosis of essential thrombocytosis. We describe the clinical presentation of these four patients with papilledema and JAK2 mutation.Conclusions:A significant proportion of patients with papilledema secondary to DVST will harbor mutations in the JAK2 gene. Clinicians should be aware of this mutation as early testing will facilitate timely diagnosis and treatment of myeloproliferative disease to improve prognosis and reduce risk of recurrent thrombotic events.
Dieudonné theory via cohomology of classifying stacks
Authors: Mondal Shubhodip 
Published: December 2021

Abstract
We prove that if G is a finite flat group scheme of p-power rank over a perfect field of characteristic p, then the second crystalline cohomology of its classifying stack

$H^2_{\text {crys}}(BG)$

recovers the Dieudonné module of G. We also provide a calculation of the crystalline cohomology of the classifying stack of an abelian variety. We use this to prove that the crystalline cohomology of the classifying stack of a p-divisible group is a symmetric algebra (in degree

$2$

) on its Dieudonné module. We also prove mixed-characteristic analogues of some of these results using prismatic cohomology.
SCORING THE JOURNEY: LISTENING TO CLAUDIA MOLITOR'S SONORAMA
Authors: Packham Jonathan 
Published: December 2021

AbstractSonorama is a 2015 sonic artwork by Claudia Molitor, consisting of a number of audio files designed for listening on a train journey between London St Pancras and Margate, and a graphic score based on the composer's own ‘reading’ of this journey. This article analyses the relationship between the sonic and the spatial in the work, exploring how Molitor's site-specific composition interacts with its environment on multiple scales. By drawing on the strategy of ‘situated listening’ developed by Gascia Ouzounian, as well as urbanist language introduced by Richard Sennett, this article seeks to elucidate the relationship between a number of ‘nested’ spaces, present across varying realisations, and the political agenda that energises the work. Written in the midst of summer 2015's European refugee crisis, the work brings into sharp focus themes of British exceptionalism, immigration and inclusion.
MUSIC AND SCIENCE IN THE EARLY WORKS OF PÉTER EÖTVÖS
Authors: Veres Bálint 
Published: December 2021

AbstractThis article presents a survey of philosophical perspectives on the phenomena of ‘nature’ and ‘science/scientific’ in music and does so through a closer look at the first creative period of Péter Eötvös as a composer. Since the beginning of his creative career Eötvös has come into contact with issues scanning the relations between music and science, on the one hand, and music and nature, on the other. Considering Martin Heidegger's reflections on the nature of modern science as he articulated them in his Die Zeit des Weltbildes (1938), one can recognise in Eötvös' first creative period (in works like Kosmos, Elektrochronik, Intervalles-Intérieurs, Tale, etc.) not only the motivating, inspiring force of science, but also the limits of this incentive.
Real models: The limits of behavioural evidence for understanding the ANS
Authors: Dramkin Denitza , Odic Darko 
Published: December 2021

Abstract
Clarke and Beck use behavioural evidence to argue that (1) approximate ratio computations are sufficient for claiming that the approximate number system (ANS) represents the rationals, and (2) the ANS does not represent the reals. We argue that pure behaviour is a poor litmus test for this problem, and that we should trust the psychophysical models that place ANS representations within the reals.
Numbers, numerosities, and new directions
Authors: Clarke Sam , Beck Jacob 
Published: December 2021

Abstract
In our target article, we argued that the number sense represents natural and rational numbers. Here, we respond to the 26 commentaries we received, highlighting new directions for empirical and theoretical research. We discuss two background assumptions, arguments against the number sense, whether the approximate number system (ANS) represents numbers or numerosities, and why the ANS represents rational (but not irrational) numbers.
On Conceptual Revision and Aesthetic Judgement
Authors: Vaccarino Bremner Sabina 
Published: December 2021

AbstractThis paper calls into question the view typically attributed to Kant that aesthetic judgements are particularist, resisting all conceptual determination. Instead, it claims that Kant conceives of aesthetic judgements, particularly of art, as playing an important role in therevisionof concepts: one sense in which aesthetic judgements, as Kant defines them, ‘find a universal’ for a given particular. To understand the relation between artistic judgements and concepts requires that we consider what I call Kant’s diachronic account of aesthetic ideas, or how such judgements unfold in the course of communication and reflection. My reading draws Kant much closer to debates in the philosophy of art on the semantic dimension of artworks. Here, illuminating the way in which aesthetic judgements about art can play a role in conceptual revision allows us to make sense of the way in which modern artworks contest concepts rather than merely presenting or expressing them.
Kant’s Theory of Modern Art?
Authors: Guyer Paul 
Published: December 2021

Abstract
Can Kant’s theory of fine art serve as a theory of modern art? It all depends on what ‘modern’ means. The word can mean current or contemporary, indexed to the time of use, and in that sense the answer is yes: Kant’s theory of genius implies that successful art is always to some extent novel, so there should always be something that counts as contemporary art on his theory. But ‘modern’ can also be used adjectively, perhaps more properly as ‘modernist’, to refer to art of a particular moment, in some cases superseded by postmodern art. Kant’s theory is not a theory of modernist art in at least one prominent form, the formalism of Clement Greenberg. But other theories, such as those of George Dickie and Arthur Danto, although triggered by particular works of modernist art and meant to accommodate them, were meant to be theories of what art was always doing, and Kant’s is too. In that sense it can be considered a modern theory of art but not a theory of modern art.
Climate‐Driven Tree Mortality and Fuel Aridity Increase Wildfire's Potential Heat Flux
Authors: Goodwin Marissa J. , Zald Harold S. J. , North Malcolm P. , Hurteau Matthew D. 
Published: December 2021

AbstractWildfire is capable of rapidly releasing the energy stored in forests, with the amount of water in live and dead biomass acting as a regulator on the amount and rate of energy release. Here, we used temperature and fuel moisture data to examine climate‐driven changes in fuel moisture content over the past three decades. We then calculated the changes in energy release (energy release component and fire radiant energy) for two forests that experienced drought and bark beetle mortality and were subsequently burned by wildfires. We found that mortality transitioned substantial amounts of biomass from live to dead pools. Coupled with climate‐driven decreases in fuel moisture content, this change in fuel availability increased the amount of energy that could be released as heat during wildfire in these forests. Our results demonstrate that climate‐driven tree mortality and fuel aridity may be increasing the amount of energy that is released during wildfire.
Characterizing the Geomagnetic Field at High Southern Latitudes: Evidence From the Antarctic Peninsula
Authors: Biasi Joseph , Kirschvink Joseph L. , Fu Roger R. 
Published: December 2021

AbstractDue to a dearth of data from high‐latitude paleomagnetic sites, it is not currently clear if the geocentric axial dipole (GAD) hypothesis accurately describes the long‐term behavior of the geomagnetic field at high latitudes. Here we present new paleomagnetic and paleointensity data from the James Ross Island (JRI) volcanic group, located on the Antarctic Peninsula. This data set addresses a notable lack of data from the 60°–70°S latitude bin and includes 251 samples from 31 sites, spanning 0.99–6.8 Ma in age. We also include positive fold, conglomerate, and baked contact tests. Paleointensity data from three methods (Thellier‐Thellier, pseudo‐Thellier, and Tsunakawa‐Shaw) were collected from all sites. The Thellier‐Thellier method had low yields and produced unreliable data, likely due to sample alteration during heating. Results from the Tsunakawa‐Shaw and pseudo‐Thellier methods were more consistent, and we found a bimodal distribution of paleointensity estimates. Most sites yielded either <15 μT or >40 μT, which together span a range of estimates from long‐term geomagnetic field models, but do not favor any model in particular. Alternating‐field demagnetization of these samples, when combined with preexisting data, yields a revised paleomagnetic pole of −87.5°, 025°, α95 = 3.6° for the Antarctic Peninsula over the last ∼5 Ma, which suggests that the current data set is sufficiently large to “average out” secular variation. Finally, the C2r/C2n transition was probably found at a site on JRI, and further geochronological and paleomagnetic study of these units could refine the age of this reversal.
Deep Argo Reveals Bottom Water Properties and Pathways in the Australian‐Antarctic Basin
Authors: Foppert Annie , Rintoul Stephen R. , Purkey Sarah G. , Zilberman Nathalie , Kobayashi Taiyo , Sallèe Jean‐Baptiste , van Wijk Esmee M. , Wallace Luke O. 
Published: December 2021

AbstractChanges in properties and quantity of Antarctic Bottom Water (AABW) have major implications for the climate system, through sequestration of heat and carbon into, and ventilation of, the abyssal ocean. Yet, it remains one of the most difficult water masses to observe. An array of 12 Deep Argo floats, capable of profiling from the surface to the seafloor and under sea ice, provides a new perspective on AABW in the Australian‐Antarctic Basin. Over 2 years of data from the floats illuminate AABW properties with unprecedented detail, simultaneously sampling AABW at multiple locations, year‐round, throughout the basin. Calibrating each float individually with nearby, quasi‐simultaneous shipboard profiles ensures the highest quality salinity data, with estimated accuracy of ±0.005 or better. Pathways of Ross Sea and Adélie Land Bottom Water (RSBW and ALBW), defined by their unique temperature and salinity characteristics, are mapped along the continental slope from their respective sources. The main pathway of RSBW, identified by its characteristic deep salinity maximum, is inferred to be inshore of the 3,700 m isobath, where it cools and freshens westward along the slope before interacting with ALBW near 140°E. A pulse of very cold and very fresh (nearly −0.6°C, 34.82 g kg−1) ALBW appears in February 2019, highlighting temporal variability on daily scales near its source. Deep Argo has greatly enhanced our view of AABW in the Australian‐Antarctic Basin and will prove to be an essential tool for monitoring future changes in the deep ocean by drastically increasing observations in a cost‐effective way.