bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Authors: Kim Hong Joo , Mohassel Payam , Donkervoort Sandra , Guo Lin , O’Donovan Kevin , Coughlin Maura , Lornage Xaviere , Foulds Nicola , Hammans Simon R. , Foley A. Reghan , Fare Charlotte M. , Ford Alice F. , Ogasawara Masashi , Sato Aki , Iida Aritoshi , Munot Pinki , Ambegaonkar Gautam , Phadke Rahul , O’Donovan Dominic G. , Buchert Rebecca , Grimmel Mona , Töpf Ana , Zaharieva Irina T. , Brady Lauren , Hu Ying , Lloyd Thomas E. , Klein Andrea , Steinlin Maja , Kuster Alice , Mercier Sandra , Marcorelles Pascale , Péréon Yann , Fleurence Emmanuelle , Manzur Adnan , Ennis Sarah , Upstill-Goddard Rosanna , Bello Luca , Bertolin Cinzia , Pegoraro Elena , Salviati Leonardo , French Courtney E. , Shatillo Andriy , Raymond F. Lucy , Haack Tobias B. , Quijano-Roy Susana , Böhm Johann , Nelson Isabelle , Stojkovic Tanya , Evangelista Teresinha , Straub Volker , Romero Norma B. , Laporte Jocelyn , Muntoni Francesco , Nishino Ichizo , Tarnopolsky Mark A. , Shorter James , Bönnemann Carsten G. , Taylor J. Paul 
Published: April 2022

AbstractMissense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1. All disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and are translated to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence. In contrast to previously reported disease-causing missense variants in HNRNPA2B1, these frameshift variants do not increase the propensity of hnRNPA2 protein to fibrillize. Rather, the frameshift variants have reduced affinity for the nuclear import receptor karyopherin β2, resulting in cytoplasmic accumulation of hnRNPA2 protein in cells and in animal models that recapitulate the human pathology. Thus, we expand the phenotypes associated with HNRNPA2B1 to include an early-onset form of OPMD caused by frameshift variants that alter its nucleocytoplasmic transport dynamics.
Efficient and stable noble-metal-free catalyst for acidic water oxidation
Authors: Pan Sanjiang , Li Hao , Liu Dan , Huang Rui , Pan Xuelei , Ren Dan , Li Jun , Shakouri Mohsen , Zhang Qixing , Wang Manjing , Wei Changchun , Mai Liqiang , Zhang Bo , Zhao Ying , Wang Zhenbin , Graetzel Michael , Zhang Xiaodan 
Published: April 2022

AbstractDeveloping non-noble catalysts with superior activity and durability for oxygen evolution reaction (OER) in acidic media is paramount for hydrogen production from water. Still, challenges remain due to the inadequate activity and stability of the OER catalyst. Here, we report a cost-effective and stable manganese oxybromide (Mn7.5O10Br3) catalyst exhibiting an excellent OER activity in acidic electrolytes, with an overpotential of as low as 295 ± 5 mV at a current density of 10 mA cm−2. Mn7.5O10Br3 maintains good stability under operating conditions for at least 500 h. In situ Raman spectroscopy, X ray absorption near edge spectroscopy, and density functional theory calculations confirm that a self-oxidized surface with enhanced electronic transmission capacity forms on Mn7.5O10Br3 and is responsible for both the high catalytic activity and long-term stability during catalysis. The development of Mn7.5O10Br3 as an OER catalyst provides crucial insights into the design of non-noble metal electrocatalysts for water oxidation.
Quadrupolar magnetic excitations in an isotropic spin-1 antiferromagnet
Authors: Nag A. , Nocera A. , Agrestini S. , Garcia-Fernandez M. , Walters A. C. , Cheong Sang-Wook , Johnston S. , Zhou Ke-Jin 
Published: April 2022

AbstractThe microscopic origins of emergent behaviours in condensed matter systems are encoded in their excitations. In ordinary magnetic materials, single spin-flips give rise to collective dipolar magnetic excitations called magnons. Likewise, multiple spin-flips can give rise to multipolar magnetic excitations in magnetic materials with spin S ≥ 1. Unfortunately, since most experimental probes are governed by dipolar selection rules, collective multipolar excitations have generally remained elusive. For instance, only dipolar magnetic excitations have been observed in isotropic S = 1 Haldane spin systems. Here, we unveil a hidden quadrupolar constituent of the spin dynamics in antiferromagnetic S = 1 Haldane chain material Y2BaNiO5 using Ni L3-edge resonant inelastic x-ray scattering. Our results demonstrate that pure quadrupolar magnetic excitations can be probed without direct interactions with dipolar excitations or anisotropic perturbations. Originating from on-site double spin-flip processes, the quadrupolar magnetic excitations in Y2BaNiO5 show a remarkable dual nature of collective dispersion. While one component propagates as non-interacting entities, the other behaves as a bound quadrupolar magnetic wave. This result highlights the rich and largely unexplored physics of higher-order magnetic excitations.
Sucrose synthases are not involved in starch synthesis in Arabidopsis leaves
Authors: Fünfgeld Maximilian M. F. F. , Wang Wei , Ishihara Hirofumi , Arrivault Stéphanie , Feil Regina , Smith Alison M. , Stitt Mark , Lunn John E. , Niittylä Totte 
Published: April 2022

AbstractMany plants accumulate transitory starch reserves in their leaves during the day to buffer their carbohydrate supply against fluctuating light conditions, and to provide carbon and energy for survival at night. It is universally accepted that transitory starch is synthesized from ADP-glucose (ADPG) in the chloroplasts. However, the consensus that ADPG is made in the chloroplasts by ADPG pyrophosphorylase has been challenged by a controversial proposal that ADPG is made primarily in the cytosol, probably by sucrose synthase (SUS), and then imported into the chloroplasts. To resolve this long-standing controversy, we critically re-examined the experimental evidence that appears to conflict with the consensus pathway. We show that when precautions are taken to avoid artefactual changes during leaf sampling, Arabidopsis thaliana mutants that lack SUS activity in mesophyll cells (quadruple sus1234) or have no SUS activity (sextuple sus123456) have wild-type levels of ADPG and starch, while ADPG is 20 times lower in the pgm and adg1 mutants that are blocked in the consensus chloroplastic pathway of starch synthesis. We conclude that the ADPG needed for starch synthesis in leaves is synthesized primarily by ADPG pyrophosphorylase in the chloroplasts.
A machine-learned interatomic potential for silica and its relation to empirical models
Authors: Erhard Linus C. , Rohrer Jochen , Albe Karsten , Deringer Volker L. 
Published: April 2022

AbstractSilica (SiO2) is an abundant material with a wide range of applications. Despite much progress, the atomistic modelling of the different forms of silica has remained a challenge. Here we show that by combining density-functional theory at the SCAN functional level with machine-learning-based interatomic potential fitting, a range of condensed phases of silica can be accurately described. We present a Gaussian approximation potential model that achieves high accuracy for the thermodynamic properties of the crystalline phases, and we compare its performance (and performance–cost trade-off) with that of multiple empirically fitted interatomic potentials for silica. We also include amorphous phases, assessing the ability of the potentials to describe structures of melt-quenched glassy silica, their energetic stability, and the high-pressure structural transition to a mainly sixfold-coordinated phase. We suggest that rather than standing on their own, machine-learned potentials for silica may be used in conjunction with suitable empirical models, each having a distinct role and complementing the other, by combining the advantages of the long simulation times afforded by empirical potentials and the near-quantum-mechanical accuracy of machine-learned potentials. This way, our work is expected to advance atomistic simulations of this key material and to benefit further computational studies in the field.
Composition design of high-entropy alloys with deep sets learning
Authors: Zhang Jie , Cai Chen , Kim George , Wang Yusu , Chen Wei 
Published: April 2022

AbstractHigh entropy alloys (HEAs) are an important material class in the development of next-generation structural materials, but the astronomically large composition space cannot be efficiently explored by experiments or first-principles calculations. Machine learning (ML) methods might address this challenge, but ML of HEAs has been hindered by the scarcity of HEA property data. In this work, the EMTO-CPA method was used to generate a large HEA dataset (spanning a composition space of 14 elements) containing 7086 cubic HEA structures with structural properties, 1911 of which have the complete elastic tensor calculated. The elastic property dataset was used to train a ML model with the Deep Sets architecture. The Deep Sets model has better predictive performance and generalizability compared to other ML models. Association rule mining was applied to the model predictions to describe the compositional dependence of HEA elastic properties and to demonstrate the potential for data-driven alloy design.
Insights into the influence of oxide inclusions on corrosion performance of additive manufactured magnesium alloys
Authors: Kuah Kai Xiang , Salehi Mojtaba , Ong Wee Kit , Seet Hang Li , Nai Mui Ling Sharon , Wijesinghe Sudesh , Blackwood Daniel J. 
Published: April 2022

AbstractThe corrosion performance of binder jet additive samples is compared with cast samples through potentiodynamic polarization in Na2SO4 solution. Higher zinc levels in the magnesium matrix and the presence of MgO within the microstructure of the binder jet printed alloy contribute to increases in the anodic and cathodic kinetics, respectively. It is proposed that electron inhomogeneity at the Mg/MgO interface in the binder jet printed alloy is the source of the catalytic activity of the hydrogen evolution reaction. The removal of MgO inclusions suppressed the cathodic reaction relative to the large increase in kinetics seen in similarly treated cast samples.
Gait abnormalities and non-motor symptoms predict abnormal dopaminergic imaging in presumed drug-induced Parkinsonism
Authors: Aamodt Whitley W. , Dubroff Jacob G. , Cheng Gang , Taylor Betty , Wood Stephanie , Duda John E. , Morley James F. 
Published: April 2022

AbstractDrug-induced parkinsonism (DIP) can be clinically indistinguishable from degenerative parkinsonism, and bedside assessments are needed to differentiate between these conditions. We examined 34 U.S. Veterans with DIP using 123I-FP-CIT (DAT-SPECT) to identify underlying nigrostriatal degeneration. Participants were 94% male with mean age of 64.5 ± 7.1 years. DAT-SPECT was abnormal in 12/34 (35%). Comparing normal and abnormal imaging groups, there were no differences in age, sex, race/ethnicity, psychiatric diagnosis, motor severity, or RBD Screening Questionnaire scores. Those with underlying neurodegeneration reported significantly more non-motor symptoms (NMS), worse olfactory function on the University of Pennsylvania Smell Identification Test, and greater turning duration/steps on the instrumented Timed Up and Go. Area under the curve (AUC) combining poor olfaction and total NMS burden was 0.84 (CI 0.71–0.97), while AUC for turn steps was 0.91 (CI 0.81–1.00). Gait impairment, hyposmia, and NMS may be useful alone and in combination to identify DIP patients with underlying dopaminergic degeneration.
Forest degradation drives widespread avian habitat and population declines
Authors: Betts Matthew G. , Yang Zhiqiang , Hadley Adam S. , Smith Adam C. , Rousseau Josée S. , Northrup Joseph M. , Nocera Joseph J. , Gorelick Noel , Gerber Brian D. 
Published: April 2022

AbstractIn many regions of the world, forest management has reduced old forest and simplified forest structure and composition. We hypothesized that such forest degradation has resulted in long-term habitat loss for forest-associated bird species of eastern Canada (130,017 km2) which, in turn, has caused bird-population declines. Despite little change in overall forest cover, we found substantial reductions in old forest as a result of frequent clear-cutting and a broad-scale transformation to intensified forestry. Back-cast species distribution models revealed that breeding habitat loss occurred for 66% of the 54 most common species from 1985 to 2020 and was strongly associated with reduction in old age classes. Using a long-term, independent dataset, we found that habitat amount predicted population size for 94% of species, and habitat loss was associated with population declines for old-forest species. Forest degradation may therefore be a primary cause of biodiversity decline in managed forest landscapes.
Life tables of annual life expectancy and mortality for companion dogs in the United Kingdom
Authors: Teng Kendy Tzu-yun , Brodbelt Dave C. , Pegram Camilla , Church David B. , O’Neill Dan G. 
Published: April 2022

AbstractA life table is a tabulated expression of life expectancy and mortality-related information at specified ages in a given population. This study utilised VetCompass data to develop life tables for the UK companion dog population and broken down by sex, Kennel Club breed group, and common breeds. Among 30,563 dogs that died between 1st January 2016 and 31st July 2020, life expectancy at age 0 was 11.23 [95% confidence interval (CI): 11.19–11.27] years. Female dogs (11.41 years; 95% CI: 11.35–11.47) had a greater life expectancy than males (11.07 years; 95% CI: 11.01–11.13) at age 0. Life tables varied widely between breeds. Jack Russell Terrier (12.72 years; 95% CI: 12.53–12.90) and French Bulldog (4.53 years; 95% CI: 4.14–5.01) had the longest and shortest life expectancy at age 0, respectively. Life tables generated by the current study allow a deeper understanding of the varied life trajectory across many types of dogs and offer novel insights and applications to improve canine health and welfare. The current study helps promote further understanding of life expectancy, which will benefit pet owners and the veterinary profession, along with many other sectors.
Identification and validation of prognosis-associated DNA repair gene signatures in colorectal cancer
Authors: Song Dingli , Zhang Dai , Chen Sisi , Wu Jie , Hao Qian , Zhao Lili , Ren Hong , Du Ning 
Published: April 2022

AbstractColorectal cancer (CRC) is the third most common malignant tumor. DNA damage plays a crucial role in tumorigenesis, and abnormal DNA repair pathways affect the occurrence and progression of CRC. In the current study, we aimed to construct a DNA repair-related gene (DRG) signature to predict the overall survival (OS) of patients with CRC patients. The differentially expressed DRGs (DE-DRGs) were analyzed using The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. The prognostic gene signature was identified by univariate Cox regression and least absolute shrinkage and selection operator (LASSO)-penalized Cox proportional hazards regression analysis. The predictive ability of the model was evaluated using the Kaplan–Meier curves and time-dependent receiver operating characteristic (ROC) curves. The gene set enrichment analysis (GSEA) was performed to explore the underlying biological processes and signaling pathways. ESTIMATE and CIBERSORT were implemented to estimate the tumor immune score and immune cell infiltration status between the different risk group. The half-maximal inhibitory concentration (IC50) was evaluated to representing the drug response of this signature. Nine DE-DRGs (ESCO2, AXIN2, PLK1, CDC25C, IGF1, TREX2, ALKBH2, ESR1 and MC1R) signatures was constructed to classify patients into high- and low-risk groups. The risk score was an independent prognostic indicator of OS (hazard ratio > 1, P < 0.001). The genetic alteration analysis indicated that the nine DE-DRGs in the signature were changed in 63 required samples (100%), and the major alteration was missense mutation. Function enrichment analysis revealed that the immune response and mtotic sister chromatid segregation were the main biological processes. The high-risk group had higher immune score than the low-risk group. What’s more, low-risk patients were more sensitive to selumetinib and dasatinib. The nine DE-DRGs signature was significantly associated with OS and provided a new insight for the diagnosis and treatment of CRC.
Predictive factors for false negatives following sentinel lymph node biopsy in early oral cavity cancer
Authors: Miura Kouki , Kawakita Daisuke , Oze Isao , Suzuki Motoyuki , Sugasawa Masashi , Endo Kazuhira , Sakashita Tomohiro , Ohba Shinichi , Suzuki Mikio , Shiotani Akihiro , Kohno Naoyuki , Maruo Takashi , Suzuki Chiaki , Iki Takehiro , Hiwatashi Nao , Matsumoto Fumihiko , Kobayashi Kenya , Toyoda Minoru , Hanyu Kenji , Koide Yusuke , Murakami Yoshiko , Hasegawa Yasuhisa 
Published: April 2022

AbstractProphylactic elective neck dissection (ND) with navigation surgery using radioisotope-based sentinel lymph node biopsy (SLNB) is non-inferior to elective ND in terms of survival but has an advantage in postoperative functional disability. We conducted a subgroup analysis to identify predictive factors for false-negative (FN)-SLNB in patients with early oral cavity cancer. This study is a supplementary analysis using the dataset of a previously reported randomized clinical trial on SLN navigation surgery for oral cancers. This study investigated the association of clinical and SLN-related factors with false-negative cases in the SLNB group. From 2011 to 2016, 275 patients were enrolled and randomly assigned to the ND and SLNB study groups, with 134 patients assigned to the SLNB group. In the SLNB group, seven cases with negative SLNs and neck recurrences were judged as FN-SLNBs according to the general definition. The number of detected SLNs with and without adjusting for the propensity score was significantly associated with FNs in the logistic analysis. FN-SLNB was associated with the number of identified SLNs, suggesting the need for careful postoperative monitoring for neck recurrence in patients with one or two identified SLNs after acquiring sufficient experience in the identification technique.
Optimal cutoff values for physical function tests in elderly patients with heart failure
Authors: Aida Keita , Kamiya Kentaro , Hamazaki Nobuaki , Nozaki Kohei , Ichikawa Takafumi , Nakamura Takeshi , Yamashita Masashi , Uchida Shota , Maekawa Emi , Reed Jennifer L. , Yamaoka-Tojo Minako , Matsunaga Atsuhiko , Ako Junya 
Published: April 2022

AbstractSix-minute walk distance (6MWD) of 300 and 400 m are important targets of functional capacity. The present study was performed to determine cutoff values of physical function associated with 6MWD < 300 m and < 400 m in elderly patients with heart failure (HF). 6MWD, handgrip strength, quadriceps isometric strength (QIS), one-leg standing time (OLST), and 5-times sit-to-stand (5STS) before hospital discharge were evaluated in 1001 patients > 65 years (median age, 75: interquartile range, 71–80, 607 men) with HF. 6MWD < 300 and < 400 m were seen in 323 patients (32.3%) and 658 patients (65.7%), respectively. Handgrip strength, QIS, OLST, and 5STS were associated with 6MWD < 300 and < 400 m, respectively (P < 0.001). The cutoff values of handgrip strength, QIS, OLST, and 5STS were 18.9 kg, 35.0% body mass (BM), 9.1 s, and 9.5 s for 6MWD < 300 m, and 21.9 kg, 40.0% BM, 12.0 s, and 8.8 s for < 400 m, respectively. The cutoff values of physical function could be used to set cardiac rehabilitation goals and limiting determinants of reduced functional capacity in a clinical setting in elderly patients with HF.
A novel soluble epoxide hydrolase vaccine protects murine cardiac muscle against myocardial infarction
Authors: Kitsuka Takahiro , Shiraki Aya , Oyama Jun-ichi , Nakagami Hironori , Tanaka Atsushi , Node Koichi 
Published: April 2022

AbstractMyocardial infarction is still a life-threatening disease, even though its prognosis has been improved through the development of percutaneous coronary intervention and pharmacotherapy. In addition, heart failure due to remodeling after myocardial infarction requires lifelong management. The aim of this study was to develop a novel treatment suppressing the myocardial damage done by myocardial infarction. We focused on inhibition of soluble epoxide hydrolase to prolong the activation of epoxyeicosatrienoic acids, which have vasodilatory and anti-inflammatory properties. We successfully made a new vaccine to inactivate soluble epoxide hydrolase, and we have evaluated the effect of the vaccine in a rat myocardial infarction model. In the vaccinated group, the ischemic area was significantly reduced, and cardiac function was significantly preserved. Vaccine treatment clearly increased microvessels in the border area and suppressed fibrosis secondary to myocardial infarction. This soluble epoxide hydrolase vaccine is a novel treatment for improving cardiac function following myocardial infarction.
Responses of butter leaf lettuce to mixed red and blue light with extended light/dark cycle period
Authors: Chen Xiao-li , Li You-li , Wang Li-chun , Yang Qi-chang , Guo Wen-zhong 
Published: April 2022

AbstractTo investigate the effects of extended light/dark (L/D) cycle period (relative to the diurnal L/D cycle) on lettuce and explore potential advantages of abnormal L/D cycles, butter leaf lettuce were grown in a plant factory with artificial light (PFAL) and exposed to mixed red (R) and blue (B) LED light with different L/D cycles that were respectively 16 h light/8 h dark (L16/D8, as control), L24/D12, L48/D24, L96/D48 and L120/D60. The results showed that, all the abnormal L/D cycles increased shoot dry weight (DW) of lettuce (by 34–83%) compared with the control, and lettuce DW increased with the L/D cycle period prolonged. The contents of soluble sugar and crude fiber in lettuce showed an overall upward trend with the length of L/D cycle extended, and the highest vitamin C content as well as low nitrate content were both detected in lettuce treated with L120/D60. The light use efficiency (LUE) and electric use efficiency (EUE) of lettuce reached the maximum (respectively 5.37% and 1.76%) under L120/D60 treatment and so were DW, Assimilation rate (A), RC/CS, ABS/CS, TRo/CS and DIo/CS, indicating that longer L/D cycle period was beneficial for the assimilation efficiency and dry matter accumulation in lettuce leaves. The highest shoot fresh weight (FW) and nitrate content detected in lettuce subjected to L24/D12 may be related to the vigorous growth of root, specific L/D cycle seemed to strengthen root growth and water absorption of lettuce. The openness level of RC in PSII (Ψo), ETo/CS, and PIabs were all the highest in lettuce treated with L24/D12, implying that slightly extending the L/D cycle period might promote the energy flowing to the final electron transfer chain. In general, irradiation modes with extended L/D cycle period had the potential to improve energy use efficiency and biomass of lettuce in PFAL. No obvious stress or injury was detected in lettuce subjected to prolonged L/D cycles in terms of plant growth and production. From the perspective of shoot FW, the optimal treatment in this study was L24/D12, while L120/D60 was the recommended treatment as regards of the energy use efficiency and nutritional quality.