bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unique properties of a subset of human pluripotent stem cells with high capacity for self-renewal
Authors: Lau Kevin X. , Mason Elizabeth A. , Kie Joshua , De Souza David P. , Kloehn Joachim , Tull Dedreia , McConville Malcolm J. , Keniry Andrew , Beck Tamara , Blewitt Marnie E. , Ritchie Matthew E. , Naik Shalin H. , Zalcenstein Daniela , Korn Othmar , Su Shian , Romero Irene Gallego , Spruce Catrina , Baker Christopher L. , McGarr Tracy C. , Wells Christine A. , Pera Martin F. 
Published: May 2020

AbstractArchetypal human pluripotent stem cells (hPSC) are widely considered to be equivalent in developmental status to mouse epiblast stem cells, which correspond to pluripotent cells at a late post-implantation stage of embryogenesis. Heterogeneity within hPSC cultures complicates this interspecies comparison. Here we show that a subpopulation of archetypal hPSC enriched for high self-renewal capacity (ESR) has distinct properties relative to the bulk of the population, including a cell cycle with a very low G1 fraction and a metabolomic profile that reflects a combination of oxidative phosphorylation and glycolysis. ESR cells are pluripotent and capable of differentiation into primordial germ cell-like cells. Global DNA methylation levels in the ESR subpopulation are lower than those in mouse epiblast stem cells. Chromatin accessibility analysis revealed a unique set of open chromatin sites in ESR cells. RNA-seq at the subpopulation and single cell levels shows that, unlike mouse epiblast stem cells, the ESR subset of hPSC displays no lineage priming, and that it can be clearly distinguished from gastrulating and extraembryonic cell populations in the primate embryo. ESR hPSC correspond to an earlier stage of post-implantation development than mouse epiblast stem cells.
Trajectory-modulated hippocampal neurons persist throughout memory-guided navigation
Authors: Kinsky Nathaniel R. , Mau William , Sullivan David W. , Levy Samuel J. , Ruesch Evan A. , Hasselmo Michael E. 
Published: May 2020

AbstractTrajectory-dependent splitter neurons in the hippocampus encode information about a rodent’s prior trajectory during performance of a continuous alternation task. As such, they provide valuable information for supporting memory-guided behavior. Here, we employed single-photon calcium imaging in freely moving mice to investigate the emergence and fate of trajectory-dependent activity through learning and mastery of a continuous spatial alternation task. In agreement with others, the quality of trajectory-dependent information in hippocampal neurons correlated with task performance. We thus hypothesized that, due to their utility, splitter neurons would exhibit heightened stability. We find that splitter neurons were more likely to remain active and retained more consistent spatial information across multiple days than other neurons. Furthermore, we find that both splitter neurons and place cells emerged rapidly and maintained stable trajectory-dependent/spatial activity thereafter. Our results suggest that neurons with useful functional coding exhibit heightened stability to support memory guided behavior.
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours
Authors: Johansson Peter A. , Brooks Kelly , Newell Felicity , Palmer Jane M. , Wilmott James S. , Pritchard Antonia L. , Broit Natasa , Wood Scott , Carlino Matteo S. , Leonard Conrad , Koufariotis Lambros T. , Nathan Vaishnavi , Beasley Aaron B. , Howlie Madeleine , Dawson Rebecca , Rizos Helen , Schmidt Chris W. , Long Georgina V. , Hamilton Hayley , Kiilgaard Jens F. , Isaacs Timothy , Gray Elin S. , Rolfe Olivia J. , Park John J. , Stark Andrew , Mann Graham J. , Scolyer Richard A. , Pearson John V. , van Baren Nicolas , Waddell Nicola , Wadt Karin W. , McGrath Lindsay A. , Warrier Sunil K. , Glasson William , Hayward Nicholas K. 
Published: May 2020

AbstractUveal melanoma (UM) is the most common intraocular tumour in adults and despite surgical or radiation treatment of primary tumours, ~50% of patients progress to metastatic disease. Therapeutic options for metastatic UM are limited, with clinical trials having little impact. Here we perform whole-genome sequencing (WGS) of 103 UM from all sites of the uveal tract (choroid, ciliary body, iris). While most UM have low tumour mutation burden (TMB), two subsets with high TMB are seen; one driven by germline MBD4 mutation, and another by ultraviolet radiation (UVR) exposure, which is restricted to iris UM. All but one tumour have a known UM driver gene mutation (GNAQ, GNA11, BAP1, PLCB4, CYSLTR2, SF3B1, EIF1AX). We identify three other significantly mutated genes (TP53, RPL5 and CENPE).
Integrating molecular markers into metabolic models improves genomic selection for Arabidopsis growth
Authors: Tong Hao , Küken Anika , Nikoloski Zoran 
Published: May 2020

AbstractThe current trends of crop yield improvements are not expected to meet the projected rise in demand. Genomic selection uses molecular markers and machine learning to identify superior genotypes with improved traits, such as growth. Plant growth directly depends on rates of metabolic reactions which transform nutrients into the building blocks of biomass. Here, we predict growth of Arabidopsis thaliana accessions by employing genomic prediction of reaction rates estimated from accession-specific metabolic models. We demonstrate that, comparing to classical genomic selection on the available data sets for 67 accessions, our approach improves the prediction accuracy for growth within and across nitrogen environments by 32.6% and 51.4%, respectively, and from optimal nitrogen to low carbon environment by 50.4%. Therefore, integration of molecular markers into metabolic models offers an approach to predict traits directly related to metabolism, and its usefulness in breeding can be examined by gathering matching datasets in crops.
Purely in-plane ferroelectricity in monolayer SnS at room temperature
Authors: Higashitarumizu Naoki , Kawamoto Hayami , Lee Chien-Ju , Lin Bo-Han , Chu Fu-Hsien , Yonemori Itsuki , Nishimura Tomonori , Wakabayashi Katsunori , Chang Wen-Hao , Nagashio Kosuke 
Published: May 2020

Abstract2D van der Waals ferroelectrics have emerged as an attractive building block with immense potential to provide multifunctionality in nanoelectronics. Although several accomplishments have been reported in ferroelectric switching for out-of-plane ferroelectrics down to the monolayer, a purely in-plane ferroelectric has not been experimentally validated at the monolayer thickness. Herein, an in-plane ferroelectricity is demonstrated for micrometer-size monolayer SnS at room temperature. SnS has been commonly regarded to exhibit the odd–even effect, where the centrosymmetry breaks only in the odd-number layers to exhibit ferroelectricity. Remarkably, however, a robust room temperature ferroelectricity exists in SnS below a critical thickness of 15 layers with both an odd and even number of layers, suggesting the possibility of controlling the stacking sequence of multilayer SnS beyond the limit of ferroelectricity in the monolayer. This work will pave the way for nanoscale ferroelectric applications based on SnS as a platform for in-plane ferroelectrics.
Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden
Authors: Qing Tao , Mohsen Hussein , Marczyk Michal , Ye Yixuan , O’Meara Tess , Zhao Hongyu , Townsend Jeffrey P. , Gerstein Mark , Hatzis Christos , Kluger Yuval , Pusztai Lajos 
Published: May 2020

AbstractCancers harbor many somatic mutations and germline variants, we hypothesized that the combined effect of germline variants that alter the structure, expression, or function of protein-coding regions of cancer-biology related genes (gHFI) determines which and how many somatic mutations (sM) must occur for malignant transformation. We show that gHFI and sM affect overlapping genes and the average number of gHFI in cancer hallmark genes is higher in patients who develop cancer at a younger age (r = −0.77, P = 0.0051), while the average number of sM increases in increasing age groups (r = 0.92, P = 0.000073). A strong negative correlation exists between average gHFI and average sM burden in increasing age groups (r = −0.70, P = 0.017). In early-onset cancers, the larger gHFI burden in cancer genes suggests a greater contribution of germline alterations to the transformation process while late-onset cancers are more driven by somatic mutations.
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Authors: Asselin Laure , Rivera Alvarez José , Heide Solveig , Bonnet Camille S. , Tilly Peggy , Vitet Hélène , Weber Chantal , Bacino Carlos A. , Baranaño Kristin , Chassevent Anna , Dameron Amy , Faivre Laurence , Hanchard Neil A. , Mahida Sonal , McWalter Kirsty , Mignot Cyril , Nava Caroline , Rastetter Agnès , Streff Haley , Thauvin-Robinet Christel , Weiss Marjan M. , Zapata Gladys , Zwijnenburg Petra J. G. , Saudou Frédéric , Depienne Christel , Golzio Christelle , Héron Delphine , Godin Juliette D. 
Published: May 2020

AbstractKIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations, including corpus callosum agenesis (ACC) and microcephaly. We demonstrate, in vivo, that the expression of KIF21B missense variants specifically recapitulates patients’ neurodevelopmental abnormalities, including microcephaly and reduced intra- and inter-hemispheric connectivity. We establish that missense KIF21B variants impede neuronal migration through attenuation of kinesin autoinhibition leading to aberrant KIF21B motility activity. We also show that the ACC-related KIF21B variant independently perturbs axonal growth and ipsilateral axon branching through two distinct mechanisms, both leading to deregulation of canonical kinesin motor activity. The duplication introduces a premature termination codon leading to nonsense-mediated mRNA decay. Although we demonstrate that Kif21b haploinsufficiency leads to an impaired neuronal positioning, the duplication variant might not be pathogenic. Altogether, our data indicate that impaired KIF21B autoregulation and function play a critical role in the pathogenicity of human neurodevelopmental disorder.
Black indium oxide a photothermal CO2 hydrogenation catalyst
Authors: Wang Lu , Dong Yuchan , Yan Tingjiang , Hu Zhixin , Ali Feysal M. , Meira Débora Motta , Duchesne Paul N. , Loh Joel Yi Yang , Qiu Chenyue , Storey Emily E. , Xu Yangfan , Sun Wei , Ghoussoub Mireille , Kherani Nazir P. , Helmy Amr S. , Ozin Geoffrey A. 
Published: May 2020

AbstractNanostructured forms of stoichiometric In2O3 are proving to be efficacious catalysts for the gas-phase hydrogenation of CO2. These conversions can be facilitated using either heat or light; however, until now, the limited optical absorption intensity evidenced by the pale-yellow color of In2O3 has prevented the use of both together. To take advantage of the heat and light content of solar energy, it would be advantageous to make indium oxide black. Herein, we present a synthetic route to tune the color of In2O3 to pitch black by controlling its degree of non-stoichiometry. Black indium oxide comprises amorphous non-stoichiometric domains of In2O3-x on a core of crystalline stoichiometric In2O3, and has 100% selectivity towards the hydrogenation of CO2 to CO with a turnover frequency of 2.44 s−1.
The unique interplay between copper and zinc during catalytic carbon dioxide hydrogenation to methanol
Authors: Zabilskiy Maxim , Sushkevich Vitaly L. , Palagin Dennis , Newton Mark A. , Krumeich Frank , van Bokhoven Jeroen A. 
Published: May 2020

AbstractIn spite of numerous works in the field of chemical valorization of carbon dioxide into methanol, the nature of high activity of Cu/ZnO catalysts, including the reaction mechanism and the structure of the catalyst active site, remains the subject of intensive debate. By using high-pressure operando techniques: steady-state isotope transient kinetic analysis coupled with infrared spectroscopy, together with time-resolved X-ray absorption spectroscopy and X-ray powder diffraction, and supported by electron microscopy and theoretical modeling, we present direct evidence that zinc formate is the principal observable reactive intermediate, which in the presence of hydrogen converts into methanol. Our results indicate that the copper–zinc alloy undergoes oxidation under reaction conditions into zinc formate, zinc oxide and metallic copper. The intimate contact between zinc and copper phases facilitates zinc formate formation and its hydrogenation by hydrogen to methanol.
Circulating SPINT1 is a biomarker of pregnancies with poor placental function and fetal growth restriction
Authors: Kaitu’u-Lino Tu’uhevaha J. , MacDonald Teresa M. , Cannon Ping , Nguyen Tuong-Vi , Hiscock Richard J. , Haan Nick , Myers Jenny E. , Hastie Roxanne , Dane Kirsten M. , Middleton Anna L. , Bittar Intissar , Sferruzzi-Perri Amanda N. , Pritchard Natasha , Harper Alesia , Hannan Natalie J. , Kyritsis Valerie , Crinis Nick , Hui Lisa , Walker Susan P. , Tong Stephen 
Published: May 2020

AbstractPlacental insufficiency can cause fetal growth restriction and stillbirth. There are no reliable screening tests for placental insufficiency, especially near-term gestation when the risk of stillbirth rises. Here we show a strong association between low circulating plasma serine peptidase inhibitor Kunitz type-1 (SPINT1) concentrations at 36 weeks’ gestation and low birthweight, an indicator of placental insufficiency. We generate a 4-tier risk model based on SPINT1 concentrations, where the highest risk tier has approximately a 2-5 fold risk of birthing neonates with birthweights under the 3rd, 5th, 10th and 20th centiles, whereas the lowest risk tier has a 0-0.3 fold risk. Low SPINT1 is associated with antenatal ultrasound and neonatal anthropomorphic indicators of placental insufficiency. We validate the association between low circulating SPINT1 and placental insufficiency in two other cohorts. Low circulating SPINT1 is a marker of placental insufficiency and may identify pregnancies with an elevated risk of stillbirth.
Diastereoselective desymmetric 1,2-cis-glycosylation of meso-diols via chirality transfer from a glycosyl donor
Authors: Tanaka Masamichi , Sato Koji , Yoshida Ryoki , Nishi Nobuya , Oyamada Rikuto , Inaba Kazuki , Takahashi Daisuke , Toshima Kazunobu 
Published: May 2020

AbstractChemical desymmetrization reactions of meso-diols are highly effective for the precise and efficient synthesis of chiral molecules. However, even though enzyme-catalyzed desymmetric glycosylations are frequently found in nature, there is no method for highly diastereoselective desymmetric chemical glycosylation of meso-diols. Herein, we report a highly diastereoselective desymmetric 1,2-cis-glycosylation of meso-diols found in myo-inositol 1,3,5-orthoesters using a boronic acid catalyst based on predictions of regioselectivity by density functional theory (DFT) calculations. The enantiotopic hydroxyl groups of the meso-diols are clearly differentiated by the stereochemistry at the C2 position of the glycosyl donor with excellent regioselectivities. In addition, the present method is successfully applied to the synthesis of core structures of phosphatidylinositolmannosides (PIMs) and glycosylphosphatidylinositol (GPI) anchors, and common β-mannoside structures of the LLBM-782 series of antibiotics.
Selective electroreduction of CO2 to acetone by single copper atoms anchored on N-doped porous carbon
Authors: Zhao Kun , Nie Xiaowa , Wang Haozhi , Chen Shuo , Quan Xie , Yu Hongtao , Choi Wonyong , Zhang Guanghui , Kim Bupmo , Chen Jingguang G. 
Published: May 2020

AbstractEfficient electroreduction of CO2 to multi-carbon products is a challenging reaction because of the high energy barriers for CO2 activation and C–C coupling, which can be tuned by designing the metal centers and coordination environments of catalysts. Here, we design single atom copper encapsulated on N-doped porous carbon (Cu-SA/NPC) catalysts for reducing CO2 to multi-carbon products. Acetone is identified as the major product with a Faradaic efficiency of 36.7% and a production rate of 336.1 μg h−1. Density functional theory (DFT) calculations reveal that the coordination of Cu with four pyrrole-N atoms is the main active site and reduces the reaction free energies required for CO2 activation and C–C coupling. The energetically favorable pathways for CH3COCH3 production from CO2 reduction are proposed and the origin of selective acetone formation on Cu-SA/NPC is clarified. This work provides insight into the rational design of efficient electrocatalysts for reducing CO2 to multi-carbon products.
Simulating Raman spectra by combining first-principles and empirical potential approaches with application to defective MoS2
Authors: Kou Zhennan , Hashemi Arsalan , Puska Martti J. , Krasheninnikov Arkady V. , Komsa Hannu-Pekka 
Published: May 2020

AbstractSuccessful application of two-dimensional transition metal dichalcogenides in optoelectronic, catalytic, or sensing devices heavily relies on the materials’ quality, that is, the thickness uniformity, presence of grain boundaries, and the types and concentrations of point defects. Raman spectroscopy is a powerful and nondestructive tool to probe these factors but the interpretation of the spectra, especially the separation of different contributions, is not straightforward. Comparison to simulated spectra is beneficial, but for defective systems first-principles simulations are often computationally too expensive due to the large sizes of the systems involved. Here, we present a combined first-principles and empirical potential method for simulating Raman spectra of defective materials and apply it to monolayer MoS2 with random distributions of Mo and S vacancies. We study to what extent the types of vacancies can be distinguished and provide insight into the origin of different evolutions of Raman spectra upon increasing defect concentration. We apply to our simulated spectra the phonon confinement model used in previous experiments to assess defect concentrations, and show that the simplest form of the model is insufficient to fully capture peak shapes, but a good match is obtained when the type of phonon confinement and the full phonon dispersion relation are accounted for.
Cognitive function in people with and without freezing of gait in Parkinson’s disease
Authors: Morris Rosie , Smulders Katrijn , Peterson Daniel S. , Mancini Martina , Carlson-Kuhta Patricia , Nutt John G. , Horak Fay B. 
Published: May 2020

AbstractFreezing of gait (FOG) is common in people with Parkinson’s disease (PD) which is extremely debilitating. One hypothesis for the cause of FOG episodes is impaired cognitive control, however, this is still in debate in the literature. We aimed to assess a comprehensive range of cognitive tests in older adults and people with Parkinson’s with and without FOG and associate FOG severity with cognitive performance. A total of 227 participants took part in the study which included 80 healthy older adults, 81 people with PD who did not have FOG and 66 people with PD and FOG. A comprehensive battery of neuropsychological assessments tested cognitive domains of global cognition, executive function/attention, working memory, and visuospatial function. The severity of FOG was assessed using the new FOG questionnaire and an objective FOG severity score. Cognitive performance was compared between groups using an ANCOVA adjusting for age, gender, years of education and disease severity. Correlations between cognitive performance and FOG severity were analyzed using partial correlations. Cognitive differences were observed between older adults and PD for domains of global cognition, executive function/attention, and working memory. Between those with and without FOG, there were differences for global cognition and executive function/attention, but these differences disappeared when adjusting for covariates. There were no associations between FOG severity and cognitive performance. This study identified no significant difference in cognition between those with and without FOG when adjusting for covariates, particularly disease severity. This may demonstrate that complex rehabilitation programs may be undertaken in those with FOG.
Quality of spirometry and related diagnosis in primary care with a focus on clinical use
Authors: van de Hei S. J. , Flokstra-de Blok B. M. J. , Baretta H. J. , Doornewaard N. E. , van der Molen T. , Patberg K. W. , Ruberg E. C. M. , Schermer T. R. J. , Steenbruggen I. , van den Berg J. W. K. , Kocks J. W. H. 
Published: May 2020

AbstractAmerican and European societies’ (ATS/ERS) criteria for spirometry are often not met in primary care. Yet, it is unknown if quality is sufficient for daily clinical use. We evaluated quality of spirometry in primary care based on clinical usefulness, meeting ATS/ERS criteria and agreement on diagnosis between general practitioners (GPs) and pulmonologists. GPs included ten consecutive spirometry tests and detailed history questionnaires of patients who underwent spirometry as part of usual care. GPs and two pulmonologists assessed the spirometry tests and questionnaires on clinical usefulness and formulated a diagnosis. In total, 149 participants covering 15 GPs were included. Low agreements were found on diagnosis between GPs and pulmonologists 1 (κ = 0.39) and 2 (κ = 0.44). GPs and pulmonologists rated >88% of the tests as clinically useful, although 13% met ATS/ERS criteria. This real-life study demonstrated that clinical usefulness of routine primary care spirometry tests was high, although agreement on diagnosis was low.
Materials with strong spin-textured bands
Authors: Liao Zhaoliang , Jiang Peiheng , Zhong Zhicheng , Li Run-Wei 
Published: May 2020

AbstractThe materials that exhibit strong spin-textured bands are rapidly attracting more and more attention in past few years. In this new class of quantum materials, the band structures are strongly influenced by spin/magnetization direction, affording new twist to control topological behaviors, quantum anomalous Hall effect, transport, and optical properties by rotating the spin/magnetization. The control of spin direction in spin-textured band materials can be considered as a fundamentally new route toward desired properties compared with conventional spin ordering control. In this article, we will review the research progress on spin-textured band materials from both theoretical and experimental aspects, providing the critical ingredient of this new type of materials, united theory, challenging, and perspective for future research.