bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height:NABP2, RASA2, RNF41andSLC39A5
Authors: Lin Eugene , Tsai Shih-Jen , Kuo Po-Hsiu , Liu Yu-Li , Yang Albert C , Conomos Matthew P , Thornton Timothy A 
Published: July 2021

AbstractNumerous genome-wide association studies (GWASs) have been conducted for the identification of genetic variants involved with human height. The vast majority of these studies, however, have been conducted in populations of European ancestry. Here, we report the first GWAS of adult height in the Taiwan Biobank using a discovery sample of 14 571 individuals and an independent replication sample of 20 506 individuals. From our analysis, we generalize to the Taiwanese population genome-wide significant associations with height and 18 previously identified genes in European and non-Taiwanese East Asian populations. We also identify and replicate, at the genome-wide significance level, associated variants for height in four novel genes at two loci that have not previously been reported: RASA2 on chromosome 3 and NABP2, RNF41 and SLC39A5 at 12q13.3 on chromosome 12. RASA2 and RNF41 are strong candidates for having a role in height with copy number and loss of function variants in RASA2 previously found to be associated with short stature disorders, and decreased expression of the RNF41 gene resulting in insulin resistance in skeletal muscle. The results from our analysis of the Taiwan Biobank underscore the potential for the identification of novel genetic discoveries in underrepresented worldwide populations, even for traits, such as height, that have been extensively investigated in large-scale studies of European ancestry populations.
Drivers of variability of Calanus finmarchicus in the Gulf of Maine: roles of internal production and external exchange
Authors: Ji Rubao , Runge Jeffrey A , Davis Cabell S , Wiebe Peter H 
Published: July 2021

Abstract
The lipid-rich calanoid copepod, Calanus finmarchicus, plays a critical role in the Gulf of Maine pelagic food web. Despite numerous studies over the last several decades, a clear picture of variability patterns and links with key environmental drivers remains elusive. This study applies model-based scaling and sensitivity analyses to a regional plankton dataset collected over the last four decades (1977–2017). The focus is to describe the gulf-wide spatio-temporal patterns across three major basins, and to assess the relative roles of internal population dynamics and external exchanges. For the spring stock, there is strong synchrony of interannual variability among three basins. This variability is largely driven by internal population dynamics rather than external exchanges, and the internal population dynamics are more sensitive to the change of top-down mortality regime than the bottom-up forcings. For the fall stock, the synchrony among basins weakens, and the variability is influenced by both internal mortality and external dilution loss. There appears to be no direct connection between the spring stock with either the preceding or subsequent fall stock, suggesting seasonal or sub-seasonal scales of population variability and associated drivers. The results highlight seasonally varying drivers responsible for population variability, including previously less recognized top-down control.
SARS-CoV-2 B.1.617 Mutations L452R and E484Q Are Not Synergistic for Antibody Evasion
Authors: Ferreira Isabella A T M , Kemp Steven A , Datir Rawlings , Saito Akatsuki , Meng Bo , Rakshit Partha , Takaori-Kondo Akifumi , Kosugi Yusuke , Uriu Keiya , Kimura Izumi , Shirakawa Kotaro , Abdullahi Adam , Agarwal Anurag , Ozono Seiya , Tokunaga Kenzo , Sato Kei , Gupta Ravindra K ,   CITIID-NIHR BioResource COVID-19 Collaboration, Indian SARS-CoV-2 Genomics Consortium,   The Genotype to Phenotype Japan (G2P-Japan) Consortium
Published: July 2021

AbstractThe SARS-CoV-2 B.1.617 variant emerged in the Indian state of Maharashtra in late 2020. There have been fears that 2 key mutations seen in the receptor-binding domain, L452R and E484Q, would have additive effects on evasion of neutralizing antibodies. We report that spike bearing L452R and E484Q confers modestly reduced sensitivity to BNT162b2 mRNA vaccine-elicited antibodies following either first or second dose. The effect is similar in magnitude to the loss of sensitivity conferred by L452R or E484Q alone. These data demonstrate reduced sensitivity to vaccine-elicited neutralizing antibodies by L452R and E484Q but lack of synergistic loss of sensitivity.
Induced mutations in SlE8 and SlACO1 control tomato fruit maturation and shelf-life
Authors: Brisou Gwilherm , Piquerez Sophie J M , Minoia Silvia , Marcel Fabien , Cornille Amandine , Carriero Filomena , Boualem Adnane , Bendahmane Abdelhafid 
Published: July 2021

Abstract
Fruit maturation and softening are critical traits that control fruit shelf-life. In the climacteric tomato (Solanum lycopersicum L.) fruit, ethylene plays a key role in fruit ripening and softening. We characterized two related proteins with contrasting impact on ethylene production, ACC oxidase 1 (SlACO1) and SlE8. We found SlACO1 and SlE8 to be highly expressed during fruit ripening. To identify loss-of-function alleles, we analysed the tomato genetic diversity but we did not find any natural mutations impairing the function of these proteins. We also found the two loci evolving under purifying selection. To engineer hypomorphic alleles, we used TILLING (target-induced local lesions in genomes) to screen a tomato ethylmethane sulfonate-mutagenized population. We found 13 mutants that we phenotyped for ethylene production, shelf-life, firmness, conductivity, and soluble solid content in tomato fruits. The data demonstrated that slaco1-1 and slaco1-2 alleles could be used to improve fruit shelf-life, and that sle8-1 and sle8-2 alleles could be used to accelerate ripening. This study highlights further the importance of SlACO1 and SlE8 in ethylene production in tomato fruit and how they might be used for post-harvest fruit preservation or speeding up fruit maturation.
Massive Transfusion Protocol in a 69 Year Old Woman with Alloantibodies
Authors: Qiao Jesse , Abadie Jude M 
Published: July 2021

Abstract
Unlike routine blood transfusions that are managed by attending providers and rely on compatibility testing, massive transfusions are managed by the trauma team members, who usually do not have immediate access to compatibility testing. Incompatible C or E antigens, when present in uncrossmatched O positive blood, require transfusion support so that health care professionals can manage potential causes for extravascular hemolysis. Herein, we describe a massive transfusion situation in which immediate patient management was required to mitigate potentially fatal clinical consequences of transfused red blood cell antibodies. In addition, this case study shows how the utility of chemistry and hematology laboratory results can illustrate the complexities of massive transfusion management in the context of incompatible C or E antigens.
Evidence for sub-Chandrasekhar Type Ia supernovae from the last major merger
Authors: Sanders Jason L , Belokurov Vasily , Man Kai T F 
Published: July 2021

ABSTRACT
We investigate the contribution of sub-Chandrasekhar mass Type Ia supernovae to the chemical enrichment of the Gaia Sausage galaxy, the progenitor of a significant merger event in the early life of the Milky Way. Using a combination of data from Nissen & Schuster, the GALactic Archaeology with HERMES (GALAH) Data Release 3 [with 1D non-local thermal equilibrium (NLTE) abundance corrections], and the Apache Point Observatory Galactic Evolution Experiment (APOGEE) Data Release 16, we fit analytic chemical evolution models to a nine-dimensional chemical abundance space (Fe, Mg, Si, Ca, Cr, Mn, Ni, Cu, and Zn) in particular focusing on the iron-peak elements, Mn and Ni. We find that low [Mn/Fe] $\sim -0.15\, \mathrm{dex}$ and low [Ni/Fe] $\sim -0.3\, \mathrm{dex}$ Type Ia yields are required to explain the observed trends beyond the [α/Fe] knee of the Gaia Sausage (approximately at [Fe/H] $=-1.4\, \mathrm{dex}$). Comparison to theoretical yield calculations indicates a significant contribution from sub-Chandrasekhar mass Type Ia supernovae in this system (from ${\sim} 60\, \mathrm{per\, cent}$ to $100\, \mathrm{per\, cent}$ depending on the theoretical model with an additional ${\pm} 10\, \mathrm{per\, cent}$ systematic from NLTE corrections). We compare to results from other Local Group environments including dwarf spheroidal galaxies, the Magellanic Clouds, and the Milky Way’s bulge, finding the Type Ia [Mn/Fe] yield must be metallicity dependent. Our results suggest that sub-Chandrasekhar mass channels are a significant, perhaps even dominant, contribution to Type Ia supernovae in metal-poor systems, whilst more metal-rich systems could be explained by metallicity-dependent sub-Chandrasekhar mass yields, possibly with additional progenitor mass variation related to star formation history, or an increased contribution from Chandrasekhar mass channels at higher metallicity.
The Global Meteor Network – Methodology and first results
Authors: Vida Denis , Šegon Damir , Gural Peter S , Brown Peter G , McIntyre Mark J M , Dijkema Tammo Jan , Pavletić Lovro , Kukić Patrik , Mazur Michael J , Eschman Peter , Roggemans Paul , Merlak Aleksandar , Zubović Dario 
Published: July 2021

ABSTRACT
The Global Meteor Network (GMN) utilizes highly sensitive low-cost CMOS video cameras which run open-source meteor detection software on Raspberry Pi computers. Currently, over 450 GMN cameras in 30 countries are deployed. The main goal of the network is to provide long-term characterization of the radiants, flux, and size distribution of annual meteor showers and outbursts in the optical meteor mass range. The rapid 24-h publication cycle the orbital data will enhance the public situational awareness of the near-Earth meteoroid environment. The GMN also aims to increase the number of instrumentally observed meteorite falls and the transparency of data reduction methods. A novel astrometry calibration method is presented which allows decoupling of the camera pointing from the distortion, and is used for frequent pointing calibrations through the night. Using wide-field cameras (88° × 48°) with a limiting stellar magnitude of +6.0 ± 0.5 at 25 frames per second, over 220 000 precise meteoroid orbits were collected since 2018 December until 2021 June. The median radiant precision of all computed trajectories is 0.47°, 0.32° for $\sim 20{{\ \rm per\ cent}}$ of meteors which were observed from 4 + stations, a precision sufficient to measure physical dispersions of meteor showers. All non-daytime annual established meteor showers were observed during that time, including five outbursts. An analysis of a meteorite-dropping fireball is presented which showed visible wake, fragmentation details, and several discernible fragments. It had spatial trajectory fit errors of only ∼40 m, which translated into the estimated radiant and velocity errors of 3 arcmin and tens of meters per second.
Constrained realizations of 2MRS density and peculiar velocity fields: growth rate and local flow
Authors: Lilow Robert , Nusser Adi 
Published: July 2021

ABSTRACT
We generate constrained realizations (CRs) of the density and peculiar velocity fields within $200 \, h^{-1} \, \mathrm{Mpc}$ from the final release of the Two-Micron All-Sky Redshift Survey (2MRS) – the densest all-sky redshift survey to date. The CRs are generated by combining a Wiener filter estimator in spherical Fourier-Bessel space with random realizations of log-normally distributed density fields and Poisson-sampled galaxy positions. The algorithm is tested and calibrated on a set of semi-analytic mock catalogues mimicking the environment of the Local Group (LG), to rigorously account for the statistical and systematic errors of the reconstruction method. By comparing our peculiar velocity CRs with the observed velocities from the Cosmicflows-3 catalogue, we constrain the normalized linear growth rate to $f \sigma _8^{\text{lin}}= 0.367 \pm 0.060$, which is consistent at the 1.1σ level with the latest Planck results as well as other direct probes. Simultaneously, we estimate a bulk flow contribution from sources beyond the 2MRS reconstruction volume of $B^{\text{ext}}= 199 \pm 68 \, \mathrm{km} \, \mathrm{s}^{-1}$ towards l = 299 ± 18°, b = 8 ± 19°. The total reconstructed velocity field at the position of the LG, smoothed with a $1 \, h^{-1} \, \mathrm{Mpc}$ Gaussian, is $685 \pm 75 \, \mathrm{km} \, \mathrm{s}^{-1}$ towards l = 270.6 ± 6.6°, b = 35.5 ± 7.2°, in good agreement with the observed CMB dipole. The total reconstructed bulk flow within different radii is compatible with other measurements. Within a $50 \, h^{-1} \, \mathrm{Mpc}$ Gaussian window we find a bulk flow of $274 \pm 50 \, \mathrm{km} \, \mathrm{s}^{-1}$ towards l = 287 ± 9°, b = 11 ± 10°. The code used to generate the CRs and obtain these results, dubbed coras, is made publicly available.
Bayesian inference of quark star equation of state using the NICER PSR J0030+0451 data
Authors: Li A , Miao Z-Q , Jiang J-L , Tang S-P , Xu R-X 
Published: July 2021

ABSTRACT
We constrain the equation of state of quark stars within the Bayesian statistical approach using the mass and radius measurements of PSR J0030+0451 from NICER. Three types of bag models, with and without non-zero finite quark mass and/or superfluidity, are employed for quark stars made up with self-bound strange quark matter. We find the $90{{\ \rm per\ cent}}$ posterior credible boundary around the most probable values of the quark star maximum mass is $M_{\rm TOV}=2.38_{-0.23}^{+0.26}\, M_{\odot }$, within the model flexibility of the finite quark mass, the quark pairing gap, and the perturbative contribution from the one-gluon exchange. The radius of a canonical $1.4 \, M_{\odot }$ quark star is $R_{\rm 1.4}\sim 12.3\, {\rm km}$, smaller than the results based on neutron star models.
Structural basis for glucocorticoid receptor recognition of both unmodified and methylated binding sites, precursors of a modern recognition element
Authors: Liu Xu , Weikum Emily R , Tilo Desiree , Vinson Charles , Ortlund Eric A 
Published: July 2021

Abstract
The most common form of DNA methylation involves the addition of a methyl group to a cytosine base in the context of a cytosine–phosphate–guanine (CpG) dinucleotide. Genomes from more primitive organisms are more abundant in CpG sites that, through the process of methylation, deamination and subsequent mutation to thymine–phosphate–guanine (TpG) sites, can produce new transcription factor binding sites. Here, we examined the evolutionary history of the over 36 000 glucocorticoid receptor (GR) consensus binding motifs in the human genome and identified a subset of them in regulatory regions that arose via a deamination and subsequent mutation event. GR can bind to both unmodified and methylated pre-GR binding sequences (GBSs) that contain a CpG site. Our structural analyses show that CpG methylation in a pre-GBS generates a favorable interaction with Arg447 mimicking that made with a TpG in a GBS. This methyl-specific recognition arose 420 million years ago and was conserved during the evolution of GR and likely helps fix the methylation on the relevant cytosines. Our study provides the first genetic, biochemical and structural evidence of high-affinity binding for the likely evolutionary precursor of extant TpG-containing GBS.
Cross-sectional survey of patients, caregivers, and physicians on diagnosis and treatment of brain metastases
Authors: Kim Albert E , Wang Gi-Ming , Waite Kristin A , Elder Scott , Fine Avery , Ahluwalia Manmeet S , Brat Daniel , Mehta Minesh P , Page Robin , Dunbar Erin , Calderone Heather M , Robins Debra Signer , DeVitto Ralph , Willmarth Nicole E , Barnholtz-Sloan Jill S , Brastianos Priscilla K 
Published: July 2021

Abstract

Background
The development of brain metastases (BM) is one of the most feared complications of cancer due to the substantial neurocognitive morbidity and a grim prognosis. In the past decade, targeted therapies and checkpoint inhibitors have demonstrated promising intracranial response rates for tumors of multiple histologies. As overall survival for these patients improves, there is a growing need to identify issues surrounding patient survivorship and to standardize physician practice patterns for these patients. To date, there has not been an adequate study to specifically explore these questions of survivorship and practice standardization for patients with advanced cancer and BM.

Methods
Here, we present results from a cross-sectional survey in which we analyze responses from 237 patients, 209 caregivers, and 239 physicians to identify areas of improvement in the clinical care of BM.

Results
In comparing physician and patient/caregiver responses, we found a disparity in the perceived discussion of topics pertaining to important aspects of BM clinical care. We identified variability in practice patterns for this patient population between private practice and academic physicians. Many physicians continue to have patients with BM excluded from clinical trials. Finally, we obtained patient/physician recommendations on high-yield areas for federal funding to improve patient quality of life.

Conclusion
By identifying potential areas of unmet need, we anticipate this wealth of actionable information will translate into tangible benefits for both patients and caregivers. Future studies are needed to validate our findings.
The causal impact of performance-based funding on university performance: quasi-experimental evidence from a policy in Russian higher education
Authors: Agasisti Tommaso , Abalmasova Ekaterina , Shibanova Ekaterina , Egorov Aleksei 
Published: July 2021

Abstract
In most countries implementing structural transformations in their higher education systems, a key goal of policymakers is to tie the amount of public funding to university performance. The present article analyses the Russian performance-based funding (PBF) reform to provide a quasi-experimental assessment of its effects on university performance. To evaluate the causal effect of PBF on university performance, we define the treatment and control groups by distinguishing universities on the basis of changes in their performance-based allocations and estimate the causal effect of the redistribution of public funds between universities as a result of PBF. Results indicate that the performance of universities is indeed affected by the extra funding generated by the reform, although heterogeneity is also at play. In the short term, the new policy has had an impact on the average national exam scores of enrollees showing that it has had encouraged universities to be more selective.
Prevalence and temporal trends of anemia in patients with heart failure
Authors: Rahman E U , Chobufo M D , Farah F , Mohamed T , Elhamdani M , Rueda C , Aronow W S , Fonarow G C , Thompson E 
Published: July 2021

Summary

Background
Anemia is an important comorbidity in heart failure (HF), and it is associated with increased adverse disease experience and mortality. Previous reports have focused mainly on HF presenting in healthcare settings. We, therefore, set out to establish the nationwide prevalence and temporal trends of anemia in community-based patients with HF in the US.

Aim
To establish the nationwide prevalence and temporal trends of anemia in community-based patients with HF in the US.

Design
The NHANES dataset, conducted by the CDC National Center for Health Statistics was used to collect nationally representative data on the health and nutritional status of the non-institutionalized US population.

Methods
We utilized the National Health and Nutrition Examination data collected over five survey cycles (2007–16). Included were participants aged 20–80 years with self-reported diagnosis of HF. Anemia was defined using 2 sex specific cut offs of 13 and 12 g/dl (cutoff 1), and 12 and 11 g/dl (cutoff 2), for men and women, respectively. The Chi square test was used to compare prevalence across different categories and survey cycles. Data analysis was done using STATA 16 with P-values &lt; 0.05 considered statistically significant.

Results
The median hemoglobin in all HF patients was 13.5 g/dl (IQR 12.4–14.5). The prevalence of anemia among community-based patients with HF in the US was 21.34% (cutoff 1) and 9.03% (cutoff 2) and has been stable from 2007 to 2016. The burden of anemia was disproportionately higher in NH Blacks (34.48%, 95% CI 27.12–42.67) and those with BMI &lt; 25 Kg/m2 (17.4%, 95% CI 10.9–26.64).

Conclusion
The prevalence of anemia in patients with HF in the US is at least 9% and has remained stable over the past decade. This high persistent burden with limited proven interventions should spur further efforts aimed at identifying impactful ways of addressing anemia in patients with HF.
Cluster-randomized trial comparing organizationally tailored versus standard approach for integrating an evidence-based cancer control intervention into African American churches
Authors: Knott Cheryl L , Chen Chang , Bowie Janice V , Mullins C Daniel , Slade Jimmie L , Woodard Nathaniel , Robinson-Shaneman Barbara-Jean R , Okwara Leonore , Huq Maisha R , Williams Ralph , He Xin 
Published: July 2021

Lay Summary
Researchers have become interested in studying how health promotion activities fit within the organizational setting where they are delivered. Health activities that are integrated into the host setting’s structures and routine operations are more likely to be fully executed, effective, and sustained. Unfortunately, we know little about how to achieve such integration. This is especially true when working outside of a healthcare system, in community organizations like churches. We report findings from a study that compared an approach to tailoring health promotion activities into their host settings, with a standard, non-tailored approach. The study was conducted in 14 African American churches randomly assigned to the tailored or standard group. The health promotion activity involved training lay people to conduct cancer educational workshops for church members. We measured the extent to which the churches integrated health promotion activities into their structures, processes, resources, and communication at the beginning and one year later. We found that while the churches had overall increases in these factors over time, those in the tailored group did not do so to a greater degree than those in the standard group. Even so, this approach to tailoring health promotion activities to the organizational setting merits future study.
Development and pilot testing of a training for bilingual community education professionals about hereditary breast and ovarian cancer among Latinas: ÁRBOLES Familiares
Authors: Vadaparampil Susan T , Moreno Botero Laura , Fuzzell Lindsay , Garcia Jennifer , Jandorf Lina , Hurtado-de-Mendoza Alejandra , Campos-Galvan Claudia , Peshkin Beth N , Schwartz Marc D , Lopez Katherine , Ricker Charité , Fiallos Katie , Quinn Gwendolyn P , Graves Kristi D 
Published: July 2021

Lay Summary
Latinas at high risk for hereditary breast and ovarian cancer (HBOC) have low rates of genetic counseling and testing. Latinas may not have ready access to services like genetic counseling and testing, which need special solutions. One solution can involve training community health workers to bridge the gap between Latinas and genetic specialists. We developed an online and in person training program (ÁRBOLES Familiares or Family Trees) for English-Spanish bilingual community health workers that teaches them how to help Latinas get access to genetic services. We tested this program with a small group of community health workers. After the program, their HBOC knowledge, genetic literacy, and confidence to help Latinas get access to genetic services had improved. Trainees also made suggestions to improve the program, which will be used to help future trainees expand their knowledge and skills to work with Latinas at risk of HBOC.