julilili42/papers huggingface dataset:
Daily weather data averages for Germany aggregated over official weather stations
2021-06-22

Daily data averaged across Germany for the years 2016 till 2020:\\n\\n\\ntemperature_mean: mean&amp;nbsp;daily&amp;nbsp;temperature in degree Celsius averaged&amp;nbsp;across all weather stations in Germany.\\n\\n\\ntemperature_max:&amp;nbsp;maximum&amp;nbsp;daily&amp;nbsp;temperature in degree Celsius&amp;nbsp;averaged&amp;nbsp;across all&amp;nbsp;weather stations in&amp;nbsp;Germany.\\n\\n\\nprecipitation: daily precipitation sum in&amp;nbsp;millimeter (equals&amp;nbsp;liter per square meter) averaged&amp;nbsp;across all weather&amp;nbsp;stations in Germany.\\n\\n\\nsunshine:&amp;nbsp;sunshine duration per day averaged&amp;nbsp;across all weather stations in Germany.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
2021-06-23

We identified several patients with a neurodevelopmental disorder who have survived with a severe loss or complete absence of ATG7, an essential effector enzyme for autophagy without a known functional paralogue. (Funded by the Wellcome Centre for Mitochondrial Research and others.).
Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness
2021-06-23

This study demonstrated shared genetic loci between cortical morphometry and schizophrenia, among which a subset are associated with immunity. These findings provide an insight into the complex genetic architecture and associated with schizophrenia.
Film-Forming Systems for Dermal Drug Delivery
2021-06-23

Film-forming formulations represent a novel form of sustained release dermatic products. They are applied to the skin as a liquid or semi-solid preparation. By evaporation of the volatile solvent on the skin, the polymer contained in the formulation forms a solid film. Various film-forming formulations were tested for their water and abrasion resistance and compared with conventional semi-solid formulations. Penetration and permeation studies of the formulations indicate a potential utility as transdermal therapeutic systems. They can be used as an alternative to patch systems to administer a variety of drugs in a topical way and may provide sustained release characteristics.
Haplotype diversity and sequence heterogeneity of human telomeres
2021-06-23

Telomeres are regions of repetitive nucleotide sequences capping the ends of eukaryotic chromosomes that protect against deterioration, and whose lengths can be correlated with age and adverse health risk factors. Yet, given their length and repetitive nature, telomeric regions are not easily reconstructed from short-read sequencing, thus making telomere sequencing, mapping, and variant resolution challenging problems. Recently, long-read sequencing, with read lengths measuring in hundreds of kilobase pairs, has made it possible to routinely read into telomeric regions and inspect their sequence structure. Here, we describe a framework for extracting telomeric reads from whole-genome single-molecule sequencing experiments, including de novo identification of telomere repeat motifs and repeat types, and also describe their sequence variation. We find that long, complex telomeric stretches and repeats can be accurately captured with long-read sequencing, observe extensive sequence heterogeneity of human telomeres, discover and localize noncanonical telomere sequence motifs (both previously reported, as well as novel), and validate them in short-read sequence data. These data reveal extensive intra- and inter-population diversity of repeats in telomeric haplotypes, reveal higher paternal inheritance of telomeric variants, and represent the first motif composition maps of multi-kilobase-pair human telomeric haplotypes across three distinct ancestries (Ashkenazi, Chinese, and Utah), which can aid in future studies of genetic variation, aging, and genome biology.
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
2021-06-23

Abstract Many rare syndromes can be well described and delineated from other disorders by a combination of characteristic symptoms. These phenotypic features are best documented with terms of the Human Phenotype Ontology (HPO), which are increasingly used in electronic health records (EHRs), too. Many algorithms that perform HPO-based gene prioritization have also been developed; however, the performance of many such tools suffers from an over-representation of atypical cases in the medical literature. This is certainly the case if the algorithm cannot handle features that occur with reduced frequency in a disorder. With Cada, we built a knowledge graph based on both case annotations and disorder annotations. Using network representation learning, we achieve gene prioritization by link prediction. Our results suggest that Cada exhibits superior performance particularly for patients that present with the pathognomonic findings of a disease. Additionally, information about the frequency of occurrence of a feature can readily be incorporated, when available. Crucial in the design of our approach is the use of the growing amount of phenotype–genotype information that diagnostic labs deposit in databases such as ClinVar. By this means, Cada is an ideal reference tool for differential diagnostics in rare disorders that can also be updated regularly.
Amazonia as the Origin and Diversification Area of Didelphidae (Mammalia: Metatheria), and a Review of the Fossil Record of the Clade
2021-06-23

Abstract Didelphidae is the largest New World radiation of marsupials, and is mostly represented by arboreal, small- to medium-sized taxa that inhabit tropical and/or subtropical forests. The group originated and remained isolated in South America for millions of years, until the formation of the Isthmus of Panama. In this study, we present the first reconstruction of the biogeographic history of Didelphidae including all major clades, based on parametric models and stratified analyses over time. We also compiled all the pre-Quaternary fossil records of the group, and contrasted these data to our biogeographic inferences, as well as to major environmental events that occurred in the South American Cenozoic. Our results indicate the relevance of Amazonia in the early diversification of Didelphidae, including the divergence of the major clades traditionally ranked as subfamilies and tribes. Cladogeneses in other areas started in the late Miocene, an interval of intense shifts, especially in the northern portion of Andes and Amazon Basin. Occupation of other areas continued through the Pliocene, but few were only colonized in Quaternary times. The comparison between the biogeographic inference and the fossil records highlights some further steps towards better understanding the spatiotemporal evolution of the clade. Finally, our results stress that the early history of didelphids is obscured by the lack of Paleogene fossils, which are still to be unearthed from low-latitude deposits of South America.
In vivo Inhibition of the 3-Dehydroquinate Synthase by 7-Deoxysedoheptulose Depends on Promiscuous Uptake by Sugar Transporters in Cyanobacteria
2021-06-23

7-Deoxysedoheptulose (7dSh) is a bioactive deoxy-sugar actively excreted by the unicellular cyanobacterium Synechococcus elongatus PCC 7942 ( S. elongatus ) but also Streptomyces setonensis . In our previous publications we have shown that in S. elongatus , 7dSh is exclusively synthesized by promiscuous enzyme activity from an inhibitory by-product of radical SAM enzymes, without a specific gene cluster being involved. Additionally, we showed that 7dSh inhibits the growth of cyanobacteria, but also the growth of plants and fungi, presumably by inhibiting the 3-dehydroquinate synthase (DHQS), the second enzyme of the shikimate pathway, as the substrate of this enzyme strongly accumulates in cells treated with 7dSh. In this study, by using purified DHQS of Anabaena variabilis ATCC 29413 ( A. variabilis ) we biochemically confirmed that 7dSh is a competitive inhibitor of this enzyme. By analyzing the effect of 7dSh on a subset of cyanobacteria from all the five subsections, we identified different species whose growth was inhibited by 7dSh. We also found that in some of the susceptible cyanobacteria import of 7dSh is mediated by structurally different and promiscuous transporters: 7dSh can be taken up by the fructose ABC-transporter in A. variabilis and via the glucose permease in Synechocystis sp. PCC 6803 ( Synechocystis sp.). In both cases, an effective uptake and thereby intracellular enrichment of 7dSh was essential for the inhibitory activity. Importantly, spontaneous mutations in the sugar transporters of A. variabilis and Synechocystis sp. not only disabled growth of the two strains on fructose and glucose, respectively, but also almost abolished their sensitivity to 7dSh. Although we have clearly shown in these examples that the effective uptake plays an essential role in the inhibitory effect of 7dSh, questions remain about how 7dSh resistance works in other (cyano)bacteria. Also, the involvement of a putative ribokinase in 7dSh resistance in the producer strain S. elongatus remained to be further investigated. Overall, these data establish 7dSh as the first allelochemical targeting the shikimate pathway in other cyanobacteria and plants and suggest a role of 7dSh in niche competition.
HIGH-RESOLUTION GIGAHERTZ AND TERAHERTZ SPECTROSCOPY OF THE ISOTOPICALLY CHIRAL MOLECULE TRANS-2,3-DIDEUTERO-OXIRANE(c-CHD-CHDO)
2021-06-23

We report the observation and assignment of the rotational spectra of the isotopically chiral molecule, trans-2,3-dideutero-oxirane (c-CHD-CHDO) measured in the gigahertz range of 62-110 GHz and in the terahertz range, 25-80 \\\\wn (instrumental resolution of 0.00052 \\\\wn). Normal oxirane (c-C H O) has been detected by astrophysical spectroscopy in space. A small number of lines of trans-2,3-dideutero-oxirane had been previously analyzed in the microwave region up to 70 GHz. We have recently measured and successfully analyzed the rotational spectrum of monodeutero-oxirane between 65 and 119 GHz using our GHz spectrometer, and in the 0.75 to 2.5 THz range measured with our FTIR setup at the Swiss Light Source.In the current work, we were able to assign and analyze more than 2500 rotational transitions of the vibronic ground state of trans-2,3-dideutero-oxirane up to J=65. The molecule is also of interest in the context of molecular parity violation, similar to the related molecules. Our results are important in relation to isotopic chirality and parity violation, and to the possible astrophysical observation of this molecule.
Neutrons on Rails - trans-regional monitoring of soil moisture and snow water equivalent
2021-06-23

Earth and Space Science Open Archive This work has been accepted for publication in Geophysical Research Letters. Version of RecordESSOAr is a venue for early communication or feedback before peer review. Data may be preliminary. Learn more about preprints. preprintOpen AccessYou are viewing the latest version by default [v1]Neutrons on Rails - trans-regional monitoring of soil moisture and snow water equivalentAuthorsMartinSchröniDSascha E.OswaldSteffenZachariasMandyKasneriDPeterDietrichSabineAttingerSee all authors Martin SchröniDCorresponding Author• Submitting AuthorUFZ -Helmholtz Centre for Environmental Research GmbHiDhttps://orcid.org/0000-0002-0220-0677view email addressThe email was not providedcopy email addressSascha E. OswaldUniversity of Potsdamview email addressThe email was not providedcopy email addressSteffen ZachariasUFZ -Helmholtz Centre for Environmental Research GmbHview email addressThe email was not providedcopy email addressMandy KasneriDUFZ -Helmholtz Centre for Environmental Research GmbHiDhttps://orcid.org/0000-0002-6983-7453view email addressThe email was not providedcopy email addressPeter DietrichUFZ -Helmholtz Centre for Environmental Research GmbHEberhard Karls University of Tübingenview email addressThe email was not providedcopy email addressSabine AttingerUFZ -Helmholtz Centre for Environmental Research GmbHUniversity of Potsdamview email addressThe email was not providedcopy email address
The use of IV immunoglobulin in the treatment of vaccine-induced immune thrombotic thrombocytopenia
2021-06-24

SF3B1 MT patients compared with 40% among those with WT. 5 Recent data from a phase 2 clinical study with imetelstat suggest potential preferential and disease modifying activity among small number of SF3B1 MT patients. 6 reclassified our patients based on IWG SF3B1 new proposal criteria. 1Notably, 175 patients were classified as MDS-SF3B1 by the new proposed criteria, 145 patients with SF3B1 MT not meeting the new proposed criteria, and 1412 SF3B1 WT MDS patients (Table 1).The median OS was 120 months (95% CI, 77-164 months), 55 months (95% CI, 42-69 months), and 31.5 months (95% CI, 28-35 months), respectively (P , .005; Figure 1C).The median leukemia-free survival was not reached among all SF3B1 MT patients compared with 58 months among SF3B1 WT patients (P , .005)(Figure 1D).The rate of AML transformation was 4.7%, 22%, and 38%, respectively (P , .005).t-MDS was observed in 10%, 9%, and 17% of the 3 above-mentioned groups.Excluding t-MDS, the median OS was 142, 57, and 36 months, respectively (P , .005).There was no difference in response rates to erythroid stimulating agents, hypomethylating agents, and lenalidomide between patients classified as SF3B1 by IWG new criteria compared with other SF3B1 MT MDS.In summary, we confirm and validate the findings reported recently by Malcovati et al that SF3B1 MT MDS should be classified as a unique disease entity based on the new proposal criteria.Furthermore, we demonstrate that SF3B1 MT retained favorable prognostic value in the context of t-MDS and worse outcome among patients with isolated del(5q), and we compliment the IWG findings by reporting responses to current available therapies based on SF3B1 MT status.
The Effects of Environmental Adversities on Human Neocortical Neurogenesis Modeled in Brain Organoids
2021-06-24

Over the past decades, a growing body of evidence has demonstrated the impact of prenatal environmental adversity on the development of the human embryonic and fetal brain. Prenatal environmental adversity includes infectious agents, medication, and substances of use as well as inherently maternal factors, such as diabetes and stress. These adversities may cause long-lasting effects if occurring in sensitive time windows and, therefore, have high clinical relevance. However, our knowledge of their influence on specific cellular and molecular processes of in utero brain development remains scarce. This gap of knowledge can be partially explained by the restricted experimental access to the human embryonic and fetal brain and limited recapitulation of human-specific neurodevelopmental events in model organisms. In the past years, novel 3D human stem cell-based in vitro modeling systems, so-called brain organoids, have proven their applicability for modeling early events of human brain development in health and disease. Since their emergence, brain organoids have been successfully employed to study molecular mechanisms of Zika and Herpes simplex virus-associated microcephaly, as well as more subtle events happening upon maternal alcohol and nicotine consumption. These studies converge on pathological mechanisms targeting neural stem cells. In this review, we discuss how brain organoids have recently revealed commonalities and differences in the effects of environmental adversities on human neurogenesis. We highlight both the breakthroughs in understanding the molecular consequences of environmental exposures achieved using organoids as well as the on-going challenges in the field related to variability in protocols and a lack of benchmarking, which make cross-study comparisons difficult.
Phosphine-Stabilized Germasilenylidene: Source for a Silicon-Atom Transfer
2021-06-24

A phosphine-stabilized germasilenylidene is synthesized following the pathway of SiCl<sub>4</sub> oxidative addition at a germylene-phosphine Lewis pair. Low-temperature reduction using {(<sup>Mes</sup>Nacnac)Mg}<sub>2</sub> resulted in a chlorosilylene intermediate and finally a molecule exhibiting a Ge═Si: motif. Inside the chelating phosphine-germylene, a low-valent silicon atom is stabilized and was transferred to diazabutadiene to give N-heterocyclic silylenes. Because of the high reactivity of the phosphine-stabilized germasilenylidene, a reaction of two Ge═Si: units was found to yield a Si<sub>2</sub>Ge<sub>2</sub>-ring molecule exhibiting a germasilene substituted with a silylene.
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
2021-06-24

Abstract Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 ( NHLRC2 , MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD‐EU register database and an in‐house database were searched for patients with NHLRC2 variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi‐allelic variants in NHLRC2 . Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients.
Extended follow-up of children in a phase2b trial of the GMZ2 malaria vaccine
2021-06-24

GMZ2/alum was well tolerated. Follow-up over 2 years confirmed a low level of vaccine efficacy with slightly higher efficacy in older children, which suggests GMZ2 may act in concert with naturally acquired immunity.
9.4 T double‐tuned 13C/1H human head array using a combination of surface loops and dipole antennas
2021-06-24

MRI at ultra‐high field (UHF, ≥7 T) provides a natural strategy for improving the quality of X‐nucleus magnetic resonance spectroscopy and imaging due to the intrinsic benefit of increased signal‐to‐noise ratio. Considering that RF coils require both local transmission and reception at UHF, the designs of double‐tuned coils, which often consist of several layers of transmit and receive resonant elements, become quite complex. A few years ago, a new type of RF coil, ie a dipole antenna, was developed and used for human body and head imaging at UHF. Due to the mechanical and electrical simplicity of dipole antennas, combining an X‐nucleus surface loop array with 1 H dipoles can substantially simplify the design of a double‐tuned UHF human head array coil. Recently, we developed a novel bent folded‐end dipole transceiver array for human head imaging at 9.4 T. The new eight‐element dipole array demonstrated full brain coverage, and transmit efficiency comparable to that of the substantially more complex 16‐element surface loop array. In this work, we developed, constructed and evaluated a double‐tuned 13 C/ 1 H human head 9.4 T array consisting of eight 13 C transceiver surface loops and eight 1 H transceiver bent folded‐end dipole antennas all placed in a single layer. We showed that interaction between loops and dipoles can be minimized by placing four 1 H traps into each 13 C loop. The presented double‐tuned RF array coil substantially simplifies the design as compared with the common double‐tuned surface loop arrays. At the same time, the coil demonstrated an improved 1 H longitudinal coverage and good transmit efficiency.
Psychometric Properties of the Turkish version of the Morningness - Eveningness Stability Scale improved (MESSi) in Adolescents
2021-06-24

Morningness-Eveningness Stability Scale improved (MESSi) is an assessment tool that evaluates distinctness of daily changes as well as the person's propensity for morningness and eveningness. The aim of this study is to evaluate psychometric properties of the Turkish version of MESSi and associations of chronotypes and diurnal variations with personality, affect, sleep quality as well as validity of the scale in Turkish adolescents. The sample of this study consisted of 445 students between ages of 10-19. Participants filled in MESSi, Morningness/Eveningness Scale for Children, Composite Scale of Morningness, Personality Traits Scale (BIG-5), Positive and Negative Affect Scale (PANAS), Pittsburgh Sleep Quality Index (PSQI). Reliability analysis of the scale showed quite reliable internal consistency values. Confirmatory factor analysis (CFA) was used to test construct validity of three-factor model of MESSi. An acceptable model fit was demonstrated in CFA. There was a moderate and significant relationship between MA and DI subscale scores of MESSi. A moderate but negative correlation was found between MA and EV subscale scores of MESSi. MA and DI subscale scores of MESSi were found to be weakly correlated with conscientiousness, emotional stability, openness to experience and subscale scores of BIG-5, respectively. There was a positive correlation of positive affect subscale scores of PANAS with MA and DI subscale scores of MESSi. MA subscale scores of MESSi were found to be negatively correlated with scores of subjective sleep quality, latency, duration, disturbances, habitual sleep efficiency, daytime dysfunction, and global scores of PSQI. This study shows that Turkish version of MESSi is valid and reliable for use in adolescents. Three-factor MESSi provides an advantage over other chronotype scales in adolescence since it includes DI subscale as well as MA and EV subscales. Psychometric results were supported by other chronotype scales and clinical features such as sleep, affect, and personality.
Interactions Between Two Cobalt Salen Centers Bridged by Non‐Conjugated Linkers**
2021-06-24

Abstract Tetra‐ tert ‐butyl‐Co(salen), an amido‐substituted derivative and a series of bis(salen) complexes of cobalt(II) with the two metal centers bridged by flexible, non‐conjugated bis‐amido linkers are investigated by cyclic voltammetry, chronoamperometry, and differential pulse voltammetry in four electrolytes (acetonitrile or dichloromethane, conventional or weakly coordinating anion). Cyclic voltammograms are analyzed by simulation based on E or EE mechanisms. The compounds are characterized by formal potentials , diffusion coefficients D and number of electrons transferred, n . Differences in the values for the subsequent two one‐electron transfer steps are used as indicators for the interaction between the metal centers in the bis(salen) complexes. The effects of solvent and supporting electrolyte are consistent with the assumption of electrostatic through‐space interactions and coordination to the Co centers. In the dinuclear complexes step‐wise electron transfers according to normal potential ordering makes these compounds “pretenders” in Winter's terms (R.F. Winter, Organometallics 2014 , 33 , 4517–4536).