bluuebunny/crossref_metadata_2025_split huggingface dataset:
PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders
Authors: Lin Guan Ning , Guo Sijia , Tan Xian , Wang Weidi , Qian Wei , Song Weichen , Wang Jingru , Yu Shunying , Wang Zhen , Cui Donghong , Wang Han 
Published: December 2019

Abstract
De novo variants (DNVs) are one of the most significant contributors to severe early-onset genetic disorders such as autism spectrum disorder, intellectual disability, and other developmental and neuropsychiatric (DNP) disorders. Presently, a plethora of DNVs have been identified using next-generation sequencing, and many efforts have been made to understand their impact at the gene level. However, there has been little exploration of the effects at the isoform level. The brain contains a high level of alternative splicing and regulation, and exhibits a more divergent splicing program than other tissues. Therefore, it is crucial to explore variants at the transcriptional regulation level to better interpret the mechanisms underlying DNP disorders. To facilitate a better usage and improve the isoform-level interpretation of variants, we developed NeuroPsychiatric Mutation Knowledge Base (PsyMuKB). It contains a comprehensive, carefully curated list of DNVs with transcriptional and translational annotations to enable identification of isoform-specific mutations. PsyMuKB allows a flexible search of genes or variants and provides both table-based descriptions and associated visualizations, such as expression, transcript genomic structures, protein interactions, and the mutation sites mapped on the protein structures. It also provides an easy-to-use web interface, allowing users to rapidly visualize the locations and characteristics of mutations and the expression patterns of the impacted genes and isoforms. PsyMuKB thus constitutes a valuable resource for identifying tissue-specific DNVs for further functional studies of related disorders. PsyMuKB is freely accessible at http://psymukb.net.
Rural versus Urban Areas and the Supplemental Nutrition Assistance Program
Authors: Weerasooriya Senal A. , Reimer Jeffrey J. 
Published: December 2019

AbstractThis study quantifies how spending changes induced by the Supplemental Nutrition Assistance Program (SNAP) affects production and employment in rural and urban areas. A general equilibrium simulation model with an estimated demand system is first used to project how SNAP affects spending on different goods and services. These impacts are then linked to the expansion and contraction of different economic sectors that differ in importance across rural and urban Oregon. In urban areas, a number of service sectors linked to higher-income households shrink slightly in response to SNAP, while food-related sectors expand; the net effect on jobs is slightly negative. Production changes in rural areas are generally smaller, while having a slightly positive net effect on jobs. Overall, SNAP makes a positive difference for low- or no-income households without strong effects elsewhere in the economy.
The Chronology of Medieval Copenhagen
Authors: Olsen Jesper , Dahlström Hanna , Poulsen Bjørn 
Published: December 2019

ABSTRACTHistorical sources reveals that Copenhagen was founded in the late 12th century AD by Bishop Absalon. However, during the excavation for the new metro in central Copenhagen a previously unknown early medieval cemetery was discovered and excavated at the Town Hall Square. Radiocarbon (14C) analysis was conducted on the 9 individuals found in situ, together with 11 individuals from the other early medieval cemetery in Copenhagen, belonging to the St Clemens church. The radiocarbon analysis places the onset of the cemeteries to the early 11th century AD and therefore questions the age of Copenhagen and hence the archaeological and historical perception of the Danish historical record. Here a detailed account of the radiocarbon-based Bayesian model is presented.
Understanding price incentives to upsize combination meals at large US fast-food restaurants
Authors: Vercammen Kelsey A , Frelier Johannah M , Moran Alyssa J , Dunn Caroline G , Musicus Aviva A , Wolfson Julia , Ullah Omar S , Bleich Sara N 
Published: December 2019

AbstractObjective:To understand price incentives to upsize combination meals at fast-food restaurants by comparing the calories (i.e. kilocalories; 1 kcal = 4·184 kJ) per dollar of default combination meals (as advertised on the menu) with a higher-calorie version (created using realistic consumer additions and portion-size changes).Design:Combination meals (lunch/dinner:n258, breakfast:n68, children’s:n34) and their prices were identified from online menus; corresponding nutrition information for each menu item was obtained from a restaurant nutrition database (MenuStat). Linear models were used to examine the difference in total calories per dollar between default and higher-calorie combination meals, overall and by restaurant.Setting:Ten large fast-food chain restaurants located in the fifteen most populous US cities in 2017–2018.Participants:None.Results:There were significantly more calories per dollar in higher-caloriev.default combination meals for lunch/dinner (default: 577 kJ (138 kcal)/dollar, higher-calorie: 707 kJ (169 kcal)/dollar, difference: 130 kJ (31 kcal)/dollar,P< 0·001) and breakfast (default: 536 kJ (128 kcal)/dollar, higher-calorie: 607 kJ (145 kcal)/dollar, difference: 71 kJ (17 kcal)/dollar,P= 0·009). Results for children’s meals were in the same direction but were not statistically significant (default: 536 kJ (128 kcal)/dollar, higher-calorie: 741 kJ (177 kcal)/dollar, difference: 205 kJ (49 kcal)/dollar,P= 0·053). Across restaurants, the percentage change in calories per dollar for higher-caloriev. default combination meals ranged from 0·1 % (Dunkin’ Donuts) to 55·0 % (Subway).Conclusions:Higher-calorie combination meals in fast-food restaurants offer significantly more calories per dollar compared with default combination meals, suggesting there is a strong financial incentive for consumers to ‘upsize’ their orders. Future research should test price incentives for lower-calorie options to promote healthier restaurant choices.
Rapid Loss of CO2 From the South Pacific Ocean During the Last Glacial Termination
Authors: Allen Katherine A. , Sikes Elisabeth L. , Anderson Robert F. , Rosenthal Yair 
Published: December 2019

AbstractDuring the termination of the last ice age, atmospheric CO2 rose ~80 ppm, but the origin of this carbon has not been fully resolved. Here we present novel constraints on the patterns and processes of deglacial CO2 release using three marine sediment cores from the southwest Pacific. Carbon isotopes (δ13C) and boron to calcium ratios (B/Ca) of benthic foraminiferal calcite provide records of the δ13C of total dissolved inorganic carbon (DIC) and carbonate ion concentrations ([CO32−]) in seawater, respectively. Together these properties indicate enhanced storage of respired CO2 between 1.2‐ and 2.5‐km water depth during the Last Glacial Maximum (19–23 thousand years ago, ka). The first major rise in atmospheric CO2 during the last deglaciation, at the time of Heinrich Stadial 1, was accompanied by increases in δ13C and [CO32−] at all core depths. The initial increases could be attributed to southward shifted westerly winds driving increased upwelling in the Southern Ocean, sending a signal of enhanced ventilation northward into the Pacific. Our results confirm that southern Pacific interior water masses served as an important reservoir for CO2 during the last glacial period, likely extracted from the atmosphere via the biologic pump. Some abrupt changes in Pacific carbon storage coincide with changes in Southern Ocean pH (Rae et al., 2018, https://doi.org/10.1038/s41586‐018‐0614‐0), upwelling indicators (Anderson et al., 2009, https://doi.org/10.1126/science.1167441), and pCO2 (Monnin et al., 2001, https://doi.org/10.1126/science.291.5501.112), indicating that portions of the deep Pacific carbon pool can be ventilated rapidly to the atmosphere via the Southern Ocean.
Freezing Temperature Controls Winter Water Discharge for Cold Region Watershed
Authors: Wang Shusen 
Published: December 2019

AbstractPronounced climate warming over the arctic‐subarctic regions has lead to profound hydrological changes including intensified river flow, but how soil frost controls aquifer discharge remains poorly understood. This study quantifies the relationship between freezing temperature and baseflow in winter. Analyses show that the traditional reservoir models are unable to reproduce the observed baseflow variations. By incorporating a freezing temperature function in the reservoir models, the model performances are largely improved. It indicates the dominant role of freezing temperature in controlling the aquifer discharge through reducing the watershed conductivity and liquid (active) water content. The results for the Albany watershed in Canada show that the watershed lump conductivity decreases by half when air temperature accumulates to −172 °C·day from winter start and in extremely cold years, it could decrease by more than 85%. With this relationship, a climate warming of +1, +2, and +4 °C would suggest an increase of 7.7%, 16.7%, and 41.0% in conductivity or 6.8%, 14.7%, and 35.0% in winter discharge, respectively. The study provides an important link between climate warming and aquifer discharge in cold regions. The results could be particularly useful for developing process‐based models, estimating baseflow variations, and assessing climate change impact on cold region hydrology.
The neural and molecular basis of working memory function in psychosis: a multimodal PET-fMRI study
Authors: Borgan Faith , O’Daly Owen , Veronese Mattia , Reis Marques Tiago , Laurikainen Heikki , Hietala Jarmo , Howes Oliver 
Published: December 2019

AbstractWorking memory (WM) deficits predict clinical and functional outcomes in schizophrenia but are poorly understood and unaddressed by existing treatments. WM encoding and WM retrieval have not been investigated in schizophrenia without the confounds of illness chronicity or the use of antipsychotics and illicit substances. Moreover, it is unclear if WM deficits may be linked to cannabinoid 1 receptor dysfunction in schizophrenia. Sixty-six volunteers (35 controls, 31 drug-free patients with diagnoses of schizophrenia or schizoaffective disorder) completed the Sternberg Item-Recognition paradigm during an fMRI scan. Neural activation during WM encoding and WM retrieval was indexed using the blood-oxygen-level-dependent hemodynamic response. A subset of volunteers (20 controls, 20 drug-free patients) underwent a dynamic PET scan to measure [11C] MePPEP distribution volume (ml/cm3) to index CB1R availability. In a whole-brain analysis, there was a significant main effect of group on task-related BOLD responses in the superior parietal lobule during WM encoding, and the bilateral hippocampus during WM retrieval. Region of interest analyses in volunteers who had PET/fMRI indicated that there was a significant main effect of group on task-related BOLD responses in the right hippocampus, left DLPFC, left ACC during encoding; and in the bilateral hippocampus, striatum, ACC and right DLPFC during retrieval. Striatal CB1R availability was positively associated with mean striatal activation during WM retrieval in male patients (R = 0.5, p = 0.02) but not male controls (R = −0.20, p = 0.53), and this was significantly different between groups, Z = −2.20, p = 0.02. Striatal CB1R may contribute to the pathophysiology of WM deficits in male patients and have implications for drug development in schizophrenia.
Cellular calcium in bipolar disorder: systematic review and meta-analysis
Authors: Harrison Paul J. , Hall Nicola , Mould Arne , Al-Juffali Noura , Tunbridge Elizabeth M. 
Published: December 2019

AbstractCalcium signalling has long been implicated in bipolar disorder, especially by reports of altered intracellular calcium ion concentrations ([Ca2+]). However, the evidence has not been appraised critically. We carried out a systematic review and meta-analysis of studies of cellular calcium indices in bipolar disorder. 2281 records were identified and 117 screened, of which 32 were eligible and 21 were suitable for meta-analyses. The latter each involved up to 642 patients and 404 control subjects. We found that basal free intracellular [Ca2+] is increased in bipolar disorder, both in platelets and in lymphocytes. The effect size is 0.55, with an estimated elevation of 29%. It is observed in medication-free patients. It is present in mania and bipolar depression, but data are equivocal for euthymia. Cells from bipolar disorder individuals also show an enhanced [Ca2+] response to stimulation with 5-HT or thrombin, by an estimated 25%, with an effect size of 0.63. In studies which included other diagnoses, intracellular basal [Ca2+] was higher in bipolar disorder than in unipolar depression, but not significantly different from schizophrenia. Functional parameters of cellular Ca2+ (e.g. calcium transients), and neuronal [Ca2+], have been much less investigated, and no firm conclusions can be drawn. In summary, there is a robust, medium effect size elevation of basal and stimulated free intracellular [Ca2+] in bipolar disorder. The results suggest altered calcium functioning in the disorder, and encourage further investigations into the underlying mechanisms, and the implications for pathophysiology and therapeutics.
Novel genome-wide associations for anhedonia, genetic correlation with psychiatric disorders, and polygenic association with brain structure
Authors: Ward Joey , Lyall Laura M. , Bethlehem Richard A. I. , Ferguson Amy , Strawbridge Rona J. , Lyall Donald M. , Cullen Breda , Graham Nicholas , Johnston Keira J. A. , Bailey Mark E. S. , Murray Graham K. , Smith Daniel J. 
Published: December 2019

AbstractAnhedonia is a core symptom of several psychiatric disorders but its biological underpinnings are poorly understood. We performed a genome-wide association study of state anhedonia in 375,275 UK Biobank participants and assessed for genetic correlation between anhedonia and neuropsychiatric conditions (major depressive disorder, schizophrenia, bipolar disorder, obsessive compulsive disorder and Parkinson’s Disease). We then used a polygenic risk score approach to test for association between genetic loading for anhedonia and both brain structure and brain function. This included: magnetic resonance imaging (MRI) assessments of total grey matter volume, white matter volume, cerebrospinal fluid volume, and 15 cortical/subcortical regions of interest; diffusion tensor imaging (DTI) measures of white matter tract integrity; and functional MRI activity during an emotion processing task. We identified 11 novel loci associated at genome-wide significance with anhedonia, with a SNP heritability estimate (h2SNP) of 5.6%. Strong positive genetic correlations were found between anhedonia and major depressive disorder, schizophrenia and bipolar disorder; but not with obsessive compulsive disorder or Parkinson’s Disease. Polygenic risk for anhedonia was associated with poorer brain white matter integrity, smaller total grey matter volume, and smaller volumes of brain regions linked to reward and pleasure processing, including orbito-frontal cortex. In summary, the identification of novel anhedonia-associated loci substantially expands our current understanding of the biological basis of state anhedonia and genetic correlations with several psychiatric disorders confirm the utility of this phenotype as a transdiagnostic marker of vulnerability to mental illness. We also provide the first evidence that genetic risk for state anhedonia influences brain structure, including in regions associated with reward and pleasure processing.
Dietary sodium modulates nephropathy in Nedd4-2-deficient mice
Authors: Manning Jantina A. , Shah Sonia S. , Henshall Tanya L. , Nikolic Andrej , Finnie John , Kumar Sharad 
Published: December 2019

AbstractSalt homeostasis is maintained by tight control of Na+ filtration and reabsorption. In the distal part of the nephron the ubiquitin protein ligase Nedd4-2 regulates membrane abundance and thus activity of the epithelial Na+ channel (ENaC), which is rate-limiting for Na+ reabsorption. Nedd4-2 deficiency in mouse results in elevated ENaC and nephropathy, however the contribution of dietary salt to this has not been characterized. In this study we show that high dietary Na+ exacerbated kidney injury in Nedd4-2-deficient mice, significantly perturbing normal postnatal nephrogenesis and resulting in multifocal areas of renal dysplasia, increased markers of kidney injury and a decline in renal function. In control mice, high dietary Na+ resulted in reduced levels of ENaC. However, Nedd4-2-deficient kidneys maintained elevated ENaC even after high dietary Na+, suggesting that the inability to efficiently downregulate ENaC is responsible for the salt-sensitivity of disease. Importantly, low dietary Na+ significantly ameliorated nephropathy in Nedd4-2-deficient mice. Our results demonstrate that due to dysregulation of ENaC, kidney injury in Nedd4-2-deficient mice is sensitive to dietary Na+, which may have implications in the management of disease in patients with kidney disease.
Characterization of the role of TMEM45A in cancer cell sensitivity to cisplatin
Authors: Schmit Kathleen , Chen Jia-Wei , Ayama-Canden Sophie , Fransolet Maude , Finet Laure , Demazy Catherine , D’Hondt Lionel , Graux Carlos , Michiels Carine 
Published: December 2019

AbstractTMEM45A is a transmembrane protein involved in tumor progression and cancer resistance to chemotherapeutic agents in hypoxic condition. It is correlated to a low breast cancer patient overall survival. However, little is known about this protein, in particular the mechanisms by which TMEM45A modulates cancer cell chemosensitivity. In this work, the messenger RNA expression of TMEM45A was assessed in head and neck squamous cell carcinoma (HNSCC) and renal cell carcinoma (RCC) biopsies. TMEM45A was upregulated in patients diagnosed for head and neck or renal cancer. Then, the implication of this protein in cisplatin sensitivity was explored in SQD9 and RCC4 + pVHL cells. TMEM45A inactivation decreased cell proliferation and modulated cell responses to cisplatin. Indeed, TMEM45A inactivation increased the sensitivity of SQD9 cells to cisplatin, whereas it rendered RCC4 + pVHL cells resistant to this anticancer agent. Through RNA-sequencing analysis, we identified several deregulated pathways that indicated that the impact on cisplatin sensitivity may be associated to the inhibition of DNA damage repair and to UPR pathway activation. This study demonstrated, for the first time, an anti or a pro-apoptotic role of this protein depending on the cancer type and highlighted the role of TMEM45A in modulating patient responses to treatment.
Approaching diamond’s theoretical elasticity and strength limits
Authors: Nie Anmin , Bu Yeqiang , Li Penghui , Zhang Yizhi , Jin Tianye , Liu Jiabin , Su Zhang , Wang Yanbin , He Julong , Liu Zhongyuan , Wang Hongtao , Tian Yongjun , Yang Wei 
Published: December 2019

AbstractDiamond is the hardest natural material, but its practical strength is low and its elastic deformability extremely limited. While recent experiments have demonstrated that diamond nanoneedles can sustain exceptionally large elastic tensile strains with high tensile strengths, the size- and orientation-dependence of these properties remains unknown. Here we report maximum achievable tensile strain and strength of diamond nanoneedles with various diameters, oriented in <100>, <110> and <111> -directions, using in situ transmission electron microscopy. We show that reversible elastic deformation depends both on nanoneedle diameter and orientation. <100> -oriented nanoneedles with a diameter of 60 nm exhibit highest elastic tensile strain (13.4%) and tensile strength (125 GPa). These values are comparable with the theoretical elasticity and Griffith strength limits of diamond, respectively. Our experimental data, together with first principles simulations, indicate that maximum achievable elastic strain and strength are primarily determined by surface conditions of the nanoneedles.
Photo-activated raster scanning thermal imaging at sub-diffraction resolution
Authors: Bouzin M. , Marini M. , Zeynali A. , Borzenkov M. , Sironi L. , D’Alfonso L. , Mingozzi F. , Granucci F. , Pallavicini P. , Chirico G. , Collini M. 
Published: December 2019

AbstractActive thermal imaging is a valuable tool for the nondestructive characterization of the morphological properties and the functional state of biological tissues and synthetic materials. However, state-of-the-art techniques do not typically combine the required high spatial resolution over extended fields of view with the quantification of temperature variations. Here, we demonstrate quantitative far-infrared photo-thermal imaging at sub-diffraction resolution over millimeter-sized fields of view. Our approach combines the sample absorption of modulated raster-scanned laser light with the automated localization of the laser-induced temperature variations imaged by a thermal camera. With temperature increments ∼0.5–5 °C, we achieve a six-time gain with respect to our 350-μm diffraction-limited resolution with proof-of-principle experiments on synthetic samples. We finally demonstrate the biological relevance of sub-diffraction thermal imaging by retrieving temperature-based super-resolution maps of the distribution of Prussian blue nanocubes across explanted murine skin biopsies.
Ultralow lattice thermal conductivity of chalcogenide perovskite CaZrSe3 contributes to high thermoelectric figure of merit
Authors: Osei-Agyemang Eric , Adu Challen Enninful , Balasubramanian Ganesh 
Published: December 2019

AbstractAn emerging chalcogenide perovskite, CaZrSe3, holds promise for energy conversion applications given its notable optical and electrical properties. However, knowledge of its thermal properties is extremely important, e.g. for potential thermoelectric applications, and has not been previously reported in detail. In this work, we examine and explain the lattice thermal transport mechanisms in CaZrSe3 using density functional theory and Boltzmann transport calculations. We find the mean relaxation time to be extremely short corroborating an enhanced phonon–phonon scattering that annihilates phonon modes, and lowers thermal conductivity. In addition, strong anharmonicity in the perovskite crystal represented by the Grüneisen parameter predictions, and low phonon number density for the acoustic modes, results in the lattice thermal conductivity to be limited to 1.17 W m−1 K−1. The average phonon mean free path in the bulk CaZrSe3 sample (N → ∞) is 138.1 nm and nanostructuring CaZrSe3 sample to ~10 nm diminishes the thermal conductivity to 0.23 W m−1 K−1. We also find that p-type doping yields higher predictions of thermoelectric figure of merit than n-type doping, and values of ZT ~0.95–1 are found for hole concentrations in the range 1016–1017 cm−3 and temperature between 600 and 700 K.