bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network
Authors: Lopez-Campos José Luis , Rapun Noelia , Czischke Karen , Jardim José R. , Acquier Mariano Fernandez , Munive Abraham Ali , Günen Hakan , Drobnic Estrella , Miravitlles Marc , Osaba Lourdes 
Published: June 2023

Abstract
Background
Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their respiratory and hepatic pathogenicity.

Methods
This is a secondary analysis of a study that evaluated the viability of the Progenika diagnostic genotyping system in six different countries by analyzing 30,827 samples from cases of suspected AATD. Allele-specific genotyping was carried out with the Progenika A1AT Genotyping Test which analyses 14 mutations in buccal swabs or dried blood spots samples. SERPINA1 gene sequencing was performed for serum AAT-genotype discrepancies or by request of the clinician. Only cases with rare mutations were included in this analysis.

Results
There were 818 cases (2.6%) carrying a rare allele, excluding newly identified mutations. All were heterozygous except for 20 that were homozygous. The most frequent alleles were the M-like alleles, PI*Mmalton and PI*Mheerlen. Of the 14 mutations included in the Progenika panel, there were no cases detected of PI*Siiyama, PI*Q0granite falls and PI*Q0west. Other alleles not included in the 14-mutation panel and identified by gene sequencing included PI*Mwürzburg, PI*Zbristol, and PI*Zwrexham, and the null alleles PI*Q0porto, PI*Q0madrid, PI*Q0brescia, and PI*Q0kayseri.

Conclusions
The Progenika diagnostic network has allowed the identification of several rare alleles, some unexpected and not included in the initial diagnostic panel. This establishes a new perspective on the distribution of these alleles in different countries. These findings may help prioritize allele selection for routine testing and highlights the need for further research into their pathogenetic role.
An investigation of relationships between body compassion, social physique anxiety and physical appearance perfectionism in young people from Iran
Authors: Abdollahi Abbas , Prasad K. D. V. , Abdelrasheed Nasser Said Gomaa , Alshahrani Shadia Hamoud , Shoja Sarah Jawad , Al-Awsi Ghaidaa Raheem Lateef , Estrada-Araoz Edwin Gustavo , Singer Nermeen , Ramírez-Coronel Andrés Alexis , Mustafa Yasser Fakri , Iswanto A. Heri 
Published: June 2023

Abstract
Background
Previous studies have shown that physical appearance perfectionism could play an important role in social physique anxiety; however, the moderating role of body compassion has not been studied. The current study aims to explore the moderating role of body compassion in the relationship between physical appearance perfectionism and social physique anxiety in undergraduate students.

Methods
A sample of 418 undergraduates (n = 418; 217 female and 201 males) from three universities in Tehran, Iran completed online questionnaires measuring physical appearance perfectionism, body compassion and social physique anxiety.

Results
The results of structural equation modeling showed that physical appearance perfectionism (β = 0.68, p < 0.001) positively predicted the social physique anxiety and body compassion negatively predicted (β = − .56, p < 0.001) the social physique anxiety in undergraduate students. A multi-group analysis showed that body compassion acted as a moderator between physical appearance perfectionism and social physique anxiety.

Conclusions
The results suggested that individuals with greater levels of physical appearance perfectionism are more likely to experience social physique anxiety. Also, the results suggested that individuals who were at a high level of the body-compassion group experienced lower levels of social physical anxiety if they also had high levels of physical appearance perfectionism. Therefore, body-compassion acted as a protective role in the relationship between physical appearance perfectionism and social physique anxiety.
Influences of bulk structure of Calcarenitic rocks on water storage and transfer in order to assess durability and climate change impact.
Authors: Hemeda Sayed 
Published: June 2023

Abstract
The main purpose of this study is to understand influences of bulk structure of geomaterials on water storage and transfer, in order to assess durability and climate change impact on the UNESCO world heritage sites in Alexandria, Egypt. This study deals with the responses of water towards the physiochemical and physicomechanical behaviours of Calcarenitic rocks, that are utilized in Greek and Roman monuments at Alexandria. Many vulnerable archaeological sites [2.3–2.5 m above mean sea level (M.S.L)] are identified at Alexandria, specifically at the Eastern Harbor, El-Shatby the Greek necropolis and Moustafa Kamil Roman tombs and addition to the Roman Catacombs of Kom El-Shoqafa which excavated with deepth − 18 m from the land surface. These UNESCO heritage sites suffer climate change impact (heavy rains and sea water rising) as well as multiple geoenvironmental and geophysical hazards. In this study a general outline of the various tests, surveys and analyses is presented, highlighting the most important issues related to the durability and climate change impact. This paper represents the comprehensive in-situ, field and laboratory surveys and tests undertaken in these outstanding world heritage sites. The field testing program comprises various geotechnical and geophysical field and laboratory tests aiming to define the physical, mechanical and dynamic properties of the hard soils/soft rock materials of the archaeological sites where these outstanding monuments are excavated and constracted. By analysis of linear correlations, some essential mechanisms should be underlined, which may connect the macrostructure to the microstructure of the geomaterial. A systematic method of analysis clearly appeared and emphasized the role of the bulk structure (i.e. grain size, grain contact, specific area, pore shape and microporosity) on petrophysical and petromechanical behavior of rock materials. The study revealed that the petrophysical and geomechanical properties of Calcarenitic rocks are influenced by size, shape, packing of grains, porosity, cement and matrix content, all controlled strongly by depositional fabric and postdepositional processes. The accurate analysis of the physiochemical and physicomechanical behaviours of Calcarenitic rocks that are utilized in Greek and Roman monuments at Alexandria allowed us to define the pathology of these monuments and to estimate the durability, climate change impact and ultimate geostatic loads that they can survive under their present geoenvironmental conditions.
Petrographic and geochemical analyses to characterise the source of built historical natural stones — a case study of the volcanic stones from historical quarries and Baoguosi Temple in the city of Ningbo, China
Authors: Guo Xiuwei , Zhang Yawen , Xu Xuemin , Dai Shibing 
Published: June 2023

AbstractCharacterising and sourcing natural stones are essential for not only understanding the historical information carried by heritage buildings and cultural heritage sites, but also providing necessary data for restoration and conservations. Petrographic analyses by polarised microscopy, along with the integrated chemical data acquired by inductively coupled plasma-mass spectrometry (ICP-MS) and X-ray diffraction (XRD) analysis, allowed us to ascertain the compositions of stone materials. In this paper it is applied on samples collected from quarries of “three famous stones (Meiyuanshi-, Xiaoxishi-, and Dayinshi-stone)” in Ningbo and from the Sumeru platform in the main hall of Baoguosi Temple (Ningbo, Zhejiang, China). Comparison of petrographic features, major and trace elements of the stones studied indicated that they are all tuffs but of different characteristics and origin. Moreover, we were able to confirm that the Sumeru platform in Baoguosi is made of Meiyuanshi-stone. The results have demonstrated the suitability of the approach and present a practicable solution for other stone buildings.
Generating rectilinear motion using permanent magnets
Authors: Rishmany Jihad , Sabiini Guitta , Mansour Ali , Imad Rodrigue 
Published: June 2023

AbstractThis paper considers generating rectilinear motion using permanent magnets based on the surface charge method. In this regard, the existing analytical expressions of the interaction magnetic field between cuboidal permanent magnets are modified and extended into new ones that take into account the magnets configuration proposed in this work. The modified equations are then solved numerically and validated via experimental testing. Based on the obtained results, a case study is considered where a magnets configuration is set through numerical iterations to produce rectilinear motion. This configuration, validated experimentally, has a self-starting aspect and generates continuous motion. The proposed technique provides a simple and quick way to configure a set of magnets to produce rectilinear motion. Such systems could be used in various medical or industrial applications such as propelling nanobots throughout the soft tissue of the human body, or driving a production line. This offers a free source of energy resulting in power saving and reduced emissions.
Digital phenotyping in psychiatry
Authors: Williamson Simon 
Published: June 2023

SUMMARYAdvances in data science and machine learning have allowed for the analysis of increasingly complex and large data-sets. Digital devices are a source of such data, given their ability to collect information on users continuously and irrespective of location. Digital phenotyping aims to use these data to build a comprehensive picture of an individual's behaviour. Psychiatry is well-positioned to make use of this, since digital behaviour may be reflective of mental state. This article provides an overview of the field of digital phenotyping as it stands currently, on the verge of large-scale studies which may pave the way for clinical implementation in psychiatry.
The effect of historical payoffs on individual strategy updates in the Prisoner's Dilemma
Authors: Han Yu , Xu Zhao jin , Zhang Lian zhong 
Published: June 2023

Abstract
Understanding the evolution of cooperation among selfish individuals remains a big challenge. In this paper, we introduce a new update rule in which individuals make decision according to their historical performance in the Prisoner's Dilemma game on a square lattice. Comparing our results with the Prisoner's Dilemma experiment, such an update rule can explain the experiment well, suggesting that this update rule may be useful for understanding the behavior of individuals in the experiment. Importantly, we can use this rule to explain the moody conditional cooperation.
Are Reindeer the New Buffalo?
Authors: Kuokkanen Rauna 
Published: June 2023

Abstract
In the nineteenth-century prairies, the buffalo was nearly exterminated as the result of the European economic and ecological invasion. Today in Scandinavia, reindeer are being threatened by the renewable energy transition, also known as the Green Shift. The Green Shift has led to an explosion of the wind industry in many countries, including Norway. Many of the onshore wind development projects have been built in areas central to reindeer herding. This article asks whether reindeer have become the new buffalo that are being sacrificed in the race to build green energies. It considers the view of reindeer herding as a vanishing livelihood and the pervasive colonial discourse of manifest destiny, which sees Indigenous peoples as disappearing in the process of natural selection and progress. The article also examines the Feminist Green New Deal (FGND) as an example of a policy framework calling for a broader intersectional approach that places race, unequal relations of power, and Indigenous rights at the heart of policy making. It considers whether the FGND is able to tackle and engage with the trajectories of settler colonialism, including manifest destiny and green colonialism. The article focuses specifically on Norway for its leading role in the energy transition and wind energy development in the Nordic countries.
Intersectional Vulnerabilities and the Banality of Harm
Authors: Emejulu Akwugo , Sobande Francesca 
Published: June 2023

AbstractIn this article we examine how intersectional vulnerabilities are experienced and made sense of by women of color activists in Europe. We name intersectional vulnerabilities as a broad, sometimes contradictory, set of emotions, all tied to activists’ complex experiences of insecurity and community. Intersectional vulnerabilities are those risks and rewards, derived from women of color activists’ positioning in relation to race, class, gender, sexuality, disability, and legal status, which shape the possibilities of women of color’s activist labor. These vulnerabilities are Janus-faced, in that they are experienced as social harms that oftentimes lead to community. Our article grapples with the bittersweetness of vulnerability and how the banality of harms meted out to women of color nevertheless contains the seeds of resistance, solidarity, and self-love.
Matter and Memory
Authors: Guerin Ayasha 
Published: June 2023

AbstractThis three-part essay first introduces Berlin’s anticolonial, Black feminist poetics through the work of May Ayim and Audre Lorde, whose poems “Blues in Black-and-White” and “East Berlin 1989” were written shortly after the fall of the Berlin Wall in response to racial attacks in a “reunited” Germany. Part I explores how these poetics and politics have influenced ongoing efforts to engage with the memory of German colonialism, xenophobia, and memorialization in public spaces. Part II moves the reader into close studies of two contemporary performance works by Afro-diasporic artists in Berlin who build on the Black feminist poetics explored in Part I. The first, Wayward Dust by Monilola Olayemi Ilupeju, was an invited performance at the Deutsches Technikmuseum in August 2020. The second, untitled performance, by the group Black Art Action Berlin (BAAB), was uninvited, and took place in Berlin’s Humboldt Forum in October 2021. In Part III, the author discusses how these performance artists in Berlin have responded to institutional pledges to “decolonize” museums, by inverting expectations of Black performance and white spectatorship in this space. The author argues that they are important interventions for this contemporary moment of institutional reckoning that challenge expectations of Black labor and white leisure in the museum, and that they should be understood within the context of an ongoing creative struggle developed in transnational Black feminist praxis.
Tools to analyze the organization and formation of the germline cyst in zebrafish oogenesis
Authors: Kumar Vineet , Elkouby Yaniv M. 
Published: June 2023

ABSTRACT
Oocytes develop in the germline cyst, a cellular organization in which germ cells are tightly interconnected and surrounded by somatic cells. The cyst produces oocytes for follicle formation and is a hub for essential processes in meiosis and oocyte differentiation. However, the formation and organization of the cyst, and their contribution to oocyte production in vertebrates remain unclear. Here, we provide tools for three-dimensional and functional in vivo analyses of the germline cyst in the zebrafish ovary. We describe the use of serial block-face scanning electron microscopy (SBF-SEM) to resolve the three-dimensional architecture of cells and organelles in the cyst at ultrastructural resolution. We present a deep learning-based pipeline for high-throughput quantitative analysis of three-dimensional confocal datasets of cysts in vivo. We provide a method for laser ablation of cellular components for manipulating cyst cells in ovaries. These methods will facilitate the investigation of the cyst cellular organization, expand the toolkit for the study of the zebrafish ovary, and advance our understanding of female developmental reproduction. They could also be further applied to the investigation of other developmental systems.
Muscle-specific functions of ryanodine receptor channels in Caenorhabditis elegans
Authors: Maryon Ed B. , Saari Bonnie , Anderson Philip 
Published: June 2023

ABSTRACT
Ryanodine receptor channels regulate contraction of striated muscle by gating the release of calcium ions from the sarcoplasmic reticulum. Ryanodine receptors are expressed in excitable and non-excitable cells of numerous species, including the nematode C. elegans. Unlike vertebrates, which have at least three ryanodine receptor genes, C. elegans has a single gene encoded by the unc-68 locus. We show that unc-68 is expressed in most muscle cells, and that the phenotypic defects exhibited by unc-68 null mutants result from the loss of unc-68 function in pharyngeal and body-wall muscle cells. The loss of unc-68 function in the isthmus and terminal bulb muscles of the pharynx causes a reduction in growth rate and brood size. unc-68 null mutants exhibit defective pharyngeal pumping (feeding) and have abnormal vacuoles in the terminal bulb of the pharynx. unc-68 is required in body-wall muscle cells for normal motility. We show that UNC-68 is localized in body-wall muscle cells to flattened vesicular sacs positioned between the apical plasma membrane and the myofilament lattice. In unc-68 mutants, the vesicles are enlarged and densely stained. The flattened vesicles in body-wall muscle cells thus represent the C. elegans sarcoplasmic reticulum. Morphological and behavioral phenotypes of unc-68 mutants suggest that intracellular calcium release is not essential for excitation-contraction coupling in C. elegans.
Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner
Authors: Soussi-Yanicostas Nadia , Faivre-Sarrailh Catherine , Hardelin Jean-Pierre , Levilliers Jacqueline , Rougon Geneviève , Petit Christine 
Published: June 2023

ABSTRACT
Anosmin-1 is an extracellular matrix glycoprotein which underlies the X chromosome-linked form of Kallmann syndrome. This disease is characterized by hypogonadism due to GnRH deficiency, and a defective sense of smell related to the underdevelopment of the olfactory bulbs. This study reports that anosmin-1 is an adhesion molecule for a variety of neuronal and non-neuronal cell types in vitro. We show that cell adhesion to anosmin-1 is dependent on the presence of heparan sulfate and chondroitin sulfate glycosaminoglycans at the cell surface. A major cell adhesion site of anosmin-1 was identified in a 32 amino acid (32R1) sequence located within the first fibronectin-like type III repeat of the protein. The role of anosmin-1 as a substrate for neurite growth was tested on either coated culture dishes or monolayers of anosmin-1-producing CHO cells. In both experimental systems, anosmin-1 was shown to be a permissive substrate for the neurite growth of different types of neurons. Mouse P5 cerebellar neurons cultured on anosmin-1 coated wells developed long neurites; the 32R1 peptide was found to underly part of this neurite growth activity. When the cerebellar neurons were cultured on anosmin-1-producing CHO cells, neurite growth was reduced as compared to wild-type CHO cells; in contrast, no difference was observed for E18 hippocampal and P1 dorsal root ganglion neurons in the same experimental system. These results indicate that anosmin-1 can modulate neurite growth in a cell-type specific manner. Finally, anosmin-1 induced neurite fasciculation of P5 cerebellar neuron aggregates cultured on anosmin-1-producing CHO cells. The pathogenesis of the olfactory defect in the X-linked Kallmann syndrome is discussed in the light of the present results and the recent data reporting the immunohistochemical localisation of anosmin-1 during early embryonic development.
Transforming growth factor-β dynamically regulates vascular smooth muscle differentiation in vivo
Authors: Grainger David J. , Metcalfe James C. , Grace Andrew A. , Mosedale David E. 
Published: June 2023

ABSTRACT
Variations in the levels of smooth muscle-specific isoforms of contractile proteins have been reported to occur in many different vascular diseases. However, although much work has been done in vitro to investigate the regulation of smooth muscle cell differentiation, the molecular mechanisms which regulate the differentiation of vascular smooth muscle tissue in vivo are unknown. Using quantitative immunofluorescence, we show that in rat arteries levels of smooth muscle differentiation markers correlate with the levels of the cytokine TGF-β. In young mice with one allele of the TGF-β1 gene deleted, the levels of both TGF-β1 and smooth muscle differentiation markers are reduced compared to wild-type controls. This regulation of smooth muscle differentiation by TGF-β?during post-natal development also occurs dynamically in the adult animal. Following various pharmacological or surgical interventions, including treatment of mice with tamoxifen and balloon injury of rat carotid arteries, there is a strong correlation between the changes in the levels of TGF-β and changes in the levels of smooth muscle differentiation markers (r=0.9, P&lt;0.0001 for n=26 experiments). We conclude that TGF-β dynamically regulates smooth muscle differentiation in rodent arteries in vivo.
Cdc18p can block mitosis by two independent mechanisms
Authors: Greenwood Emma , Nishitani Hideo , Nurse Paul 
Published: June 2023

ABSTRACT
The DNA replication checkpoint is required to maintain the integrity of the genome, inhibiting mitosis until S phase has been successfully completed. The checkpoint preventing premature mitosis in Schizosaccharomyces pombe relies on phosphorylation of the tyrosine-15 residue on cdc2p to prevent its activation and hence mitosis. The cdc18 gene is essential for both generating the DNA replication checkpoint and the initiation of S phase, thus providing a key role for the overall control and coordination of the cell cycle. We show that the C terminus of the protein is capable of both initiating DNA replication and the checkpoint function of cdc18p. The C terminus of cdc18p acts upstream of the DNA replication checkpoint genes rad1, rad3, rad9, rad17, hus1 and cut5 and requires the wee1p/mik1p tyrosine kinases to block mitosis. The N terminus of cdc18p can also block mitosis but does so in the absence of the DNA replication checkpoint genes and the wee1p/mik1p kinases therefore acting downstream of these genes. Because the N terminus of cdc18p associates with cdc2p in vivo, we suggest that by binding the cdc2p/cdc13p mitotic kinase directly, it exerts an effect independently of the normal checkpoint control, probably in an unphysiological manner.