bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature
Authors: Ansar Muhammad , Ebstein Frédéric , Özkoç Hayriye , Paracha Sohail A , Iwaszkiewicz Justyna , Gesemann Matthias , Zoete Vincent , Ranza Emmanuelle , Santoni Federico A , Sarwar Muhammad T , Ahmed Jawad , Krüger Elke , Bachmann-Gagescu Ruxandra , Antonarakis Stylianos E 
Published: February 2020

Abstract
The molecular cause of the majority of rare autosomal recessive disorders remains unknown. Consanguinity due to extensive homozygosity unravels many recessive phenotypes and facilitates the detection of novel gene-disease links. Here, we report two siblings with phenotypic signs, including intellectual disability (ID), developmental delay and microcephaly from a Pakistani consanguineous family in which we have identified homozygosity for p(Tyr103His) in the PSMB1 gene (Genbank NM_002793) that segregated with the disease phenotype. PSMB1 encodes a β-type proteasome subunit (i.e. β6). Modeling of the p(Tyr103His) variant indicates that this variant weakens the interactions between PSMB1/β6 and PSMA5/α5 proteasome subunits and thus destabilizes the 20S proteasome complex. Biochemical experiments in human SHSY5Y cells revealed that the p(Tyr103His) variant affects both the processing of PSMB1/β6 and its incorporation into proteasome, thus impairing proteasome activity. CRISPR/Cas9 mutagenesis or morpholino knock-down of the single psmb1 zebrafish orthologue resulted in microcephaly, microphthalmia and reduced brain size. Genetic evidence in the family and functional experiments in human cells and zebrafish indicates that PSMB1/β6 pathogenic variants are the cause of a recessive disease with ID, microcephaly and developmental delay due to abnormal proteasome assembly.
Australia and the Abortive Convention on Territorial Asylum: A Case Study of a Cul de Sac in International Refugee and Human Rights Law
Authors: Taylor Savitri , Neumann Klaus 
Published: February 2020

Abstract
Focusing on the period from the adoption of the 1967 Declaration on Territorial Asylum to the 1977 Conference of Plenipotentiaries on Territorial Asylum in Geneva, this article examines attempts to arrive at an international treaty on territorial asylum. Charting the trajectory of the drafting process, it shows how the ambition of international lawyers and UNHCR to go beyond article 14 of the Universal Declaration of Human Rights and the 1967 Declaration was eventually thwarted. Australia played a significant role at the 1977 conference and particular attention is paid to the development of its position. The article argues that the discussions over the proposed convention on territorial asylum were symptomatic of States’ unwillingness to countenance a right to asylum, and their concomitant willingness to extend the principle of non-refoulement.
A New Clinical and Immunovirological Score for Predicting the Risk of Late Severe Infection in Solid Organ Transplant Recipients: The CLIV Score
Authors: San-Juan Rafael , Fernández-Ruiz Mario , Ruiz-Ruigómez María , López-Medrano Francisco , Ruiz-Merlo Tamara , Andrés Amado , Loinaz Carmelo , Len Oscar , Azancot María Antonieta , Montejo Miguel , Rodriguez-Alvarez Regino , Fortún Jesús , Escudero-Sánchez Rosa , Giménez Estela , Lora David , Albert Eliseo , Navarro David , Aguado José María ,   Spanish Network for Research in Infectious Diseases (Red Española de Investigación en Patología Infecciosa [REIPI] RD16/0016)
Published: February 2020

Abstract

Background
We aimed at constructing a composite score based on Epstein-Barr virus DNAemia (EBVd) and simple clinical and immunological parameters to predict late severe infection (LI) beyond month 6 in solid organ transplantation (SOT) recipients.

Methods
Kidney and liver transplant recipients between May 2014 and August 2016 at 4 participating centers were included. Serum immunoglobulins and complement factors, peripheral blood lymphocyte subpopulations, and whole blood EBVd were determined at months 1, 3, and 6. Cox regression analyses were performed to generate a weighted score for the prediction of LI.

Results
Overall, 309 SOT recipients were followed-up for a median of 1000 days from transplant (interquartile range, 822–1124). Late severe infection occurred in 104 patients (33.6%). The CLIV Score consisted of the following variables at month 6: high-level EBVd (&gt;1500 IU/mL) and recurrent infection during the previous months (6 points); recipient age ≥70 years and chronic graft dysfunction (5 points); cytomegalovirus mismatch (4 points); and CD8+ T-cell count &lt;400 cells/μL (2 points). The area under receiver operating characteristics curve was 0.77 (95% confidence interval, 0.71–0.84). The risk of LI at day 1000 was as follows: score 0, 12.6%; score 2–5, 25.5%; score 6–9, 52.7%; score ≥10, 73.5%.

Conclusions
While waiting for further external validation, the CLIV Score based on clinical and immune-virological parameters is potentially useful to stratify the risk of LI after SOT.
Domestic arbitral institutions and foreign direct investment
Authors: Yin Weiwen 
Published: February 2020

AbstractExisting literature focuses on how domestic and international institutions address investor–state disputes and attract foreign direct investment (FDI). However, contractual disputes between foreign and domestic firms are largely neglected. For foreign investors, dispute resolution mechanisms that can effectively resolve contractual disputes are very important as well. In this article, I examine the effect of institutions that conduct arbitrations for disputes between foreign and domestic firms on FDI inflows. Focusing on the within-country variation of China, I find that provinces with CIETAC (China International Economic and Trade Arbitration Commission) agencies receive a higher level of FDI. These agencies attract FDI because they can credibly signal that local governments are truly willing to treat foreign investors fairly when they have disputes with local firms. In sum, this article highlights an institutional variable that has received little attention in the literature on the politics of FDI.
Comparison of DAD and FLD Detection for Identification of Selected Bisphenols in Human Breast Milk Samples and Their Quantitative Analysis by LC-MS/MS
Authors: Tuzimski Tomasz , Szubartowski Szymon , Gadzała-Kopciuch Renata , Miturski Andrzej , Wójtowicz-Marzec Monika , Kwaśniewski Wojciech , Buszewski Bogusław 
Published: February 2020

Abstract

Background
Determination of bisphenols released from packaging material is undoubtedly a difficult and tricky task, requiring the chemical analyst to develop an individual approach to obtain reliable analytical information.

Objective
QuECHERS (Quick, Easy, Cheap, Effective, Rugged, and Safe)/dispersive solid-phase extraction (d-SPE) technique and high performance liquid chromatography (HPLC) coupled with modern detection techniques such as diode-array detector (DAD), ﬂuorescence detector (FLD) or tandem mass spectrometry (MS/MS) for the determination of bisphenols such as bisphenol A (BPA), bisphenol S (BPS), bisphenol F (BPF), bisphenol B (BPB), 2-[[4-[2-[4-(Oxiran-2-ylmethoxy)phenyl]propan-2yl]phenoxy] methyl]oxirane (BADGE), 3-[4-[2-[4-(Oxiran-2-ylmethoxy)phenyl]propan-2-yl]phenoxy]propane-1,2-diol (BADGE*H2O), 3-[4-[2-[4-(2,3-Dihydroxypropoxy)phenyl]propan-2-yl]phenoxy]propane-1,2-diol (BADGE*2H2O), 1-Chloro-3-[4-[2-[4-(3-chloro-2-hydroxypropoxy)phenyl] propan-2-yl]phenoxy]propan-2-ol (BADGE*2HCl) in human breast milk samples have been performed.

Methods
For the analysis of total analytes, prior to the extraction with acetonitrile, a deconjugation step was implemented in a tube by adding 1 mL of the enzymatic solution with the β-Glucuronidase to 5 mL of sample. The mix was homogenized and incubated for 17 h at 37°C. Ten milliliters of acetonitrile, and a QuEChERS salt packet with 4 g anhydrous MgSO4 and 1 g NaCl were added. During the d-SPE step the extract was transferred into tube with 30 mg Z-Sep and 50 mg PSA (and also 150 mg MgSO4 for LC-MS/MS analysis). MeOH–water (20:80, v/v) were added to the dry residue and the extract was reconstituted in 150 µL (25-fold analytes pre-concentration is achieved). Next bisphenols were identified by HPLC-DAD-FLD and quantified by LC-MS/MS equipment.

Conclusions
During the bisphenols HPLC-DAD-FLD analysis, from 6 min a reinforcement of 15 was used, which allowed analytes to be identified at 750 pg/mL. Application of LC-MS/MS allowed quantification of bisphenols in the range from 2.12 to 116.22 ng/mL in a total 27 human breast milk samples.

Highlights
First QuEChERS/d-SPE coupled with HPLC-DAD-FLD or LC-MS/MS method for the quantification of bisphenols and its analogues in breast milk Faster and cheaper alternative to traditional extraction methods The method was applied for the first biomonitoring of bisphenols and its analogues in breast milk.
Toxicokinetics and Analytical Toxicology of Flualprazolam: Metabolic Fate, Isozyme Mapping, Human Plasma Concentration and Main Urinary Excretion Products
Authors: Wagmann Lea , Manier Sascha K , Bambauer Thomas P , Felske Christina , Eckstein Niels , Flockerzi Veit , Meyer Markus R 
Published: February 2020

Abstract
An increasing number of benzodiazepine-type compounds are appearing on the new psychoactive substances market. 8-Chloro-6-(2-fluorophenyl)-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine (well known as flualprazolam) represents a potent ‘designer benzodiazepine’ that has been associated with sedation, loss of consciousness, memory loss and disinhibition. The aims of the present study were to tentatively identify flualprazolam metabolites using in vitro incubations with pooled human liver S9 fraction or HepaRG cells by means of liquid-chromatography-high resolution tandem mass spectrometry. Isozymes involved in phase I and II biotransformation were identified in vitro. Results were then confirmed using human biosamples of an 18-year old male who was admitted to the emergency department after suspected flualprazolam ingestion. Furthermore, the plasma concentration was determined using the standard addition method. Seven flualprazolam metabolites were tentatively identified. Several cytochrome P450 and UDP-glucuronosyltransferase isozymes, amongst them CYP3A4 and UGT1A4, were shown to be involved in flualprazolam biotransformation reactions, and an influence of polymorphisms as well as drug–drug or drug–food interactions cannot be excluded. Alpha-hydroxy flualprazolam glucuronide, 4-hydroxy flualprazolam glucuronide and the parent glucuronide were identified as most abundant signals in urine, far more abundant than the parent compound flualprazolam. These metabolites are thus recommended as urine-screening targets. If conjugate cleavage was performed during sample preparation, the corresponding phase I metabolites should be added as targets. Both hydroxy metabolites can also be recommended for blood screening. The flualprazolam plasma concentration determined in the intoxication case was as low as 8 μg/L underlining the need of analytical methods with sufficient sensitivity for blood-screening purposes.
Spatial and interspecific comparisons of the reproductive biology of two species of co-occurring freshwater shrimps (Decapoda: Caridea: Palaemonidae) in the Three Gorges Reservoir, China
Authors: Chen Sibao , Liao Chuansong , Rypel Andrew L , Lian Yuxi , Ye Shaowen , Zhang Tanglin , Liu Jiashou 
Published: February 2020

Abstract
Exopalaemon modestus (Heller, 1862) and Macrobrachium nipponensis (De Haan, 1840) (Palaemonidae) are ecologically and commercially important fishery resources in the Three Gorges Reservoir (TGR), China, and co-occur in demersal habitats. Little information is available on their biology. We compared the reproductive traits of both species on the upper, middle, and lower sections of the TGR. Both species differed in mean size at maturity, which increased from upper to middle and lower sections. Sex ratios were significantly biased toward females, but no significant differences were observed among the three sites for either species. Both species displayed an obvious trade-off between embryo size and fecundity, with the size of embryos being the smallest but with the highest fecundity at the upper section, followed by the middle and lower sections. Exopalaemon modestus spawned from early April to late September, with a peak in May and June, whereas M. nipponensis spawned from late April to early October with a peak in June and July. The spatially distinct reproductive traits, which were concordant across species, are likely related to differences in habitat characteristics such as water flow. We suggest that management strategies should account for the reproductive biology of the two species in order to maintain a sustainable fishery in the reservoir.
The Estrogen-Responsive Transcriptome of Female Secondary Sexual Traits in the Gulf Pipefish
Authors: Anderson Andrew P , Rose Emily , Flanagan Sarah P , Jones Adam G 
Published: February 2020

Abstract
Sexual dimorphism often results from hormonally regulated trait differences between the sexes. In sex-role-reversed vertebrates, females often have ornaments used in mating competition that are expected to be under hormonal control. Males of the sex-role-reversed Gulf pipefish (Syngnathus scovelli) develop female-typical traits when they are exposed to estrogens. We aimed to identify genes whose expression levels changed during the development and maintenance of female-specific ornaments. We performed RNA-sequencing on skin and muscle tissue in male Gulf pipefish with and without exposure to estrogen to investigate the transcriptome of the sexually dimorphic ornament of vertical iridescent bands found in females and estrogen-exposed males. We further compared differential gene expression patterns between males and females to generate a list of genes putatively involved in the female secondary sex traits of bands and body depth. A detailed analysis of estrogen-receptor binding sites demonstrates that estrogen-regulated genes tend to have nearby cis-regulatory elements. Our results identified a number of genes that differed between the sexes and confirmed that many of these were estrogen-responsive. These estrogen-regulated genes may be involved in the arrangement of chromatophores for color patterning, as well as in the growth of muscles to achieve the greater body depth typical of females in this species. In addition, anaerobic respiration and adipose tissue could be involved in the rigors of female courtship and mating competition. Overall, this study generates a number of interesting hypotheses regarding the genetic basis of a female ornament in a sex-role-reversed pipefish.
Pneumatosis cystoides intestinalis in an elderly patient, better to be safe than sorry
Authors: Molina Gabriel A , Fuentes Germanico , Orejuela Monica Elizabeth , Herrera Juan Marcelo , Jiménez Galo Enrique , Pinto Johanna Carolina , Cobo Maria Mercedes 
Published: February 2020

Abstract
Pneumatosis cystoides intestinalis is a rare pathology with nonspecific symptoms that can be easily misdiagnosed. Clinical awareness along with close surveillance is critical to effectively diagnose and treat this condition. Current treatment is based on conservative therapy including antibiotics and oxygen. Surgery is only recommended when complications are suspected. Here, we present the case of a 72-year-old female admitted to the emergency department with abdominal pain and vomits. Pneumatosis cystoides intestinalis was diagnosed and was successfully treated. On follow-up visits, patient is recovering and doing well.
New opportunities and insights into Papaver self-incompatibility by imaging engineered Arabidopsis pollen
Authors: Wang Ludi , Triviño Marina , Lin Zongcheng , Carli José , Eaves Deborah J , Van Damme Daniёl , Nowack Moritz K , Franklin-Tong Vernonica E , Bosch Maurice 
Published: February 2020

AbstractPollen tube growth is essential for plant reproduction. Their rapid extension using polarized tip growth provides an exciting system for studying this specialized type of growth. Self-incompatibility (SI) is a genetically controlled mechanism to prevent self-fertilization. Mechanistically, one of the best-studied SI systems is that of Papaver rhoeas (poppy). This utilizes two S-determinants: stigma-expressed PrsS and pollen-expressed PrpS. Interaction of cognate PrpS–PrsS triggers a signalling network, causing rapid growth arrest and programmed cell death (PCD) in incompatible pollen. We previously demonstrated that transgenic Arabidopsis thaliana pollen expressing PrpS–green fluorescent protein (GFP) can respond to Papaver PrsS with remarkably similar responses to those observed in incompatible Papaver pollen. Here we describe recent advances using these transgenic plants combined with genetically encoded fluorescent probes to monitor SI-induced cellular alterations, including cytosolic calcium, pH, the actin cytoskeleton, clathrin-mediated endocytosis (CME), and the vacuole. This approach has allowed us to study the SI response in depth, using multiparameter live-cell imaging approaches that were not possible in Papaver. This lays the foundations for new opportunities to elucidate key mechanisms involved in SI. Here we establish that CME is disrupted in self-incompatible pollen. Moreover, we reveal new detailed information about F-actin remodelling in pollen tubes after SI.
The pivotal function of dehydroascorbate reductase in glutathione homeostasis in plants
Authors: Ding Haiyan , Wang Bipeng , Han Yi , Li Shengchun 
Published: February 2020

Abstract
Under natural conditions, plants are exposed to various abiotic and biotic stresses that trigger rapid changes in the production and removal of reactive oxygen species (ROS) such as hydrogen peroxide (H2O2). The ascorbate-glutathione pathway has been recognized to be a key player in H2O2 metabolism, in which reduced glutathione (GSH) regenerates ascorbate by reducing dehydroascorbate (DHA), either chemically or via DHA reductase (DHAR), an enzyme belonging to the glutathione S-transferase (GST) superfamily. Thus, DHAR has been considered to be important in maintaining the ascorbate pool and its redox state. Although some GSTs and peroxiredoxins may contribute to GSH oxidation, analysis of Arabidopsis dhar mutants has identified the key role of DHAR in coupling H2O2 to GSH oxidation. The reaction of DHAR has been proposed to proceed by a ping-pong mechanism, in which binding of DHA to the free reduced form of the enzyme is followed by binding of GSH. Information from crystal structures has shed light on the formation of sulfenic acid at the catalytic cysteine of DHAR that occurs with the reduction of DHA. In this review, we discuss the molecular properties of DHAR and its importance in coupling the ascorbate and glutathione pools with H2O2 metabolism, together with its functions in plant defense, growth, and development.
A line-binned treatment of opacities for the spectra and light curves from neutron star mergers
Authors: Fontes C J , Fryer C L , Hungerford A L , Wollaeger R T , Korobkin O 
Published: February 2020

ABSTRACT
The electromagnetic observations of GW170817 were able to dramatically increase our understanding of neutron star mergers beyond what we learned from gravitational waves alone. These observations provided insight on all aspects of the merger from the nature of the gamma-ray burst to the characteristics of the ejected material. The ejecta of neutron star mergers are expected to produce such electromagnetic transients, called kilonovae or macronovae. Characteristics of the ejecta include large velocity gradients, relative to supernovae, and the presence of heavy r-process elements, which pose significant challenges to the accurate calculation of radiative opacities and radiation transport. For example, these opacities include a dense forest of bound–bound features arising from near-neutral lanthanide and actinide elements. Here we investigate the use of fine-structure, line-binned opacities that preserve the integral of the opacity over frequency. Advantages of this area-preserving approach over the traditional expansion–opacity formalism include the ability to pre-calculate opacity tables that are independent of the type of hydrodynamic expansion and thus eliminate the computational expense of calculating opacities within radiation-transport simulations. Tabular opacities are generated for all 14 lanthanides as well as a representative actinide element, uranium. We demonstrate that spectral simulations produced with the line-binned opacities agree well with results produced with the more accurate continuous Monte Carlo Sobolev approach, as well as with the commonly used expansion–opacity formalism. The agreement between the line-binned and expansion–opacity results is explained as arising from the similarity in their opacities in the limit of low optical depth, where radiation transport is important in the ejecta. Additional investigations illustrate the convergence of opacity with respect to the number of included lines, and elucidate sensitivities to different atomic physics approximations, such as fully and semirelativistic approaches.
The near and mid-infrared photometric properties of known redshift z ≥ 5 quasars
Authors: Ross Nicholas P , Cross Nicholas J G 
Published: February 2020

ABSTRACT
We assemble a catalogue of 488 spectroscopically confirmed very high (z ≥ 5.00) redshift quasars (VHzQ) and report their near- (ZYJHKs/K) and mid- (WISE W1234) infrared properties. 97 per cent of the VHzQ sample is detected in one or more near-infrared (NIR) band, with lack of coverage rather than lack of depth being the reason for the non-detections. 389 (80 per cent) of the very high redshift quasars are detected at 3.4 μm in the W1 band from the unWISE catalogue and all of the z ≥ 7 quasars are detected in both unWISE W1 and W2. Using archival Wide Field Camera (WFCAM)/United Kingdom Infrared Telescope (UKIRT) and VISTA Infrared Camera (VIRCAM)/Visible and Infrared Survey Telescope for Astronomy (VISTA) data we check for photometric variability that might be expected from super-Eddington accretion. We find 28 of the quasars have sufficient NIR measurements and signal-to-noise ratio to look for variability. Weak variability was detected in multiple bands of Sloan Digital Sky Survey (SDSS) J0959+0227, and very marginally in the Y-band of MMT J0215-0529. Only one quasar, SDSS J0349+0034, shows significant differences between WFCAM and VISTA magnitudes in one band. With supermassive black hole accretion likely to be redshift invariant up to very high redshift, further monitoring of these sources is warranted. All the data, analysis codes and plots used and generated here can be found at: github.com/d80b2t/VHzQ.
Fragmentation modelling of the 2019 August impact on Jupiter
Authors: Sankar Ramanakumar , Palotai Csaba , Hueso Ricardo , Delcroix Marc , Chappel Ethan , Sánchez-Lavega Agustin 
Published: February 2020

Abstract
On 2019 August 7, an impact flash lasting ∼1 s was observed on Jupiter. The video of this event was analysed to obtain the light curve, and determine the energy release and initial mass. We find that the impactor released a total energy of 96–151 kilotons of TNT, corresponding to an initial mass between 190 and 260 metric tonnes with a diameter between 4 and 10 m. We developed a fragmentation model to simulate the atmospheric breakup of the object and reproduce the light curve. We model three different materials: cometary, stony, and metallic at speeds of 60, 65, and 70 km s−1, respectively, to determine the material make-up of the impacting object. The slower cases are best fitted by a strong, metallic object while the faster cases require a weaker material.